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Sample records for variable region exons

  1. Acetylcholinesterase (AChE) gene modification in transgenic animals: functional consequences of selected exon and regulatory region deletion.

    Science.gov (United States)

    Camp, Shelley; Zhang, Limin; Marquez, Michael; de la Torre, Brian; Long, Jeffery M; Bucht, Goran; Taylor, Palmer

    2005-12-15

    AChE is an alternatively spliced gene. Exons 2, 3 and 4 are invariantly spliced, and this sequence is responsible for catalytic function. The 3' alternatively spliced exons, 5 and 6, are responsible for AChE disposition in tissue [J. Massoulie, The origin of the molecular diversity and functional anchoring of cholinesterases. Neurosignals 11 (3) (2002) 130-143; Y. Li, S. Camp, P. Taylor, Tissue-specific expression and alternative mRNA processing of the mammalian acetylcholinesterase gene. J. Biol. Chem. 268 (8) (1993) 5790-5797]. The splice to exon 5 produces the GPI anchored form of AChE found in the hematopoietic system, whereas the splice to exon 6 produces a sequence that binds to the structural subunits PRiMA and ColQ, producing AChE expression in brain and muscle. A third alternative RNA species is present that is not spliced at the 3' end; the intron 3' of exon 4 is used as coding sequence and produces the read-through, unanchored form of AChE. In order to further understand the role of alternative splicing in the expression of the AChE gene, we have used homologous recombination in stem cells to produce gene specific deletions in mice. Alternatively and together exon 5 and exon 6 were deleted. A cassette containing the neomycin gene flanked by loxP sites was used to replace the exon(s) of interest. Tissue analysis of mice with exon 5 deleted and the neomycin cassette retained showed very low levels of AChE expression, far less than would have been anticipated. Only the read-through species of the enzyme was produced; clearly the inclusion of the selection cassette disrupted splicing of exon 4 to exon 6. The selection cassette was then deleted in exon 5, exon 6 and exons 5 + 6 deleted mice by breeding to Ella-cre transgenic mice. AChE expression in serum, brain and muscle has been analyzed. Another AChE gene targeted mouse strain involving a region in the first intron, found to be critical for AChE expression in muscle cells [S. Camp, L. Zhang, M. Marquez, B

  2. Exon organization of the mouse entactin gene corresponds to the structural domains of the polypeptide and has regional homology to the low-density lipoprotein receptor gene

    DEFF Research Database (Denmark)

    Durkin, M E; Wewer, U M; Chung, A E

    1995-01-01

    of the mouse entactin gene closely corresponds to the organization of the polypeptide into distinct structural and functional domains. The two amino-terminal globular domains are encoded by three exons each. Single exons encode the two protease-sensitive, O-glycosylated linking regions. The six EGF......Entactin is a widespread basement membrane protein of 150 kDa that binds to type IV collagen and laminin. The complete exon-intron structure of the mouse entactin gene has been determined from lambda genomic DNA clones. The gene spans at least 65 kb and contains 20 exons. The exon organization...

  3. Variable pathogenicity of exon 43del (FAA) in four Fanconi anaemia patients within a consanguineous family.

    Science.gov (United States)

    Koc, A; Pronk, J C; Alikasifoglu, M; Joenje, H; Altay, C

    1999-01-01

    Four Fanconi anaemia group A (FAA) patients within two related consanguineous families are presented: the propositus (male, 13 years, transplanted at age 10), and his three cousins (one male, 8 years, and two female newborns). Assignment of the patients to FAA was based on the functional complementation analysis by somatic cell hybridization and confirmed by mutation screening showing a homozygous deletion of exon 43 (4267-4404del) in the FAA gene to be present in all four patients. The newborn patients had been diagnosed prenatally by DNA analysis. In spite of identical molecular pathology and close familial relationship the clinical phenotypes of the four patients were not concordant. Discordant symptoms included birthweight, pigmentation abnormalities, skeletal, renal and genital abnormalities, whereas microcephaly and possibly the haematological course were concordant. Differences in environmental conditions and/or genetic make-up along with chance effects during development may explain discordant phenotypes despite identical molecular pathology in these patients. However, our results do not rule out the possibility that the exon 43del mutation may have prognostic value for the haematological course of the disease.

  4. Cloning of the pig aminopeptidase N gene. Identification of possible regulatory elements and the exon distribution in relation to the membrane-spanning region

    DEFF Research Database (Denmark)

    Sjöström, H; Norén, O; Olsen, Jørgen

    1989-01-01

    . By sequence comparisons we have found three domains showing similarity to promoter regions of the genes encoding human alpha 1-antitrypsin and human intestinal alkaline phosphatase. The gene sequence includes the first three exons and two introns. It shows that a single exon encodes the cytoplasmic tail...

  5. Association between the dopamine D4 receptor gene exon III variable number of tandem repeats and political attitudes in female Han Chinese.

    Science.gov (United States)

    Ebstein, Richard P; Monakhov, Mikhail V; Lu, Yunfeng; Jiang, Yushi; Lai, Poh San; Chew, Soo Hong

    2015-08-22

    Twin and family studies suggest that political attitudes are partially determined by an individual's genotype. The dopamine D4 receptor gene (DRD4) exon III repeat region that has been extensively studied in connection with human behaviour, is a plausible candidate to contribute to individual differences in political attitudes. A first United States study provisionally identified this gene with political attitude along a liberal-conservative axis albeit contingent upon number of friends. In a large sample of 1771 Han Chinese university students in Singapore, we observed a significant main effect of association between the DRD4 exon III variable number of tandem repeats and political attitude. Subjects with two copies of the 4-repeat allele (4R/4R) were significantly more conservative. Our results provided evidence for a role of the DRD4 gene variants in contributing to individual differences in political attitude particularly in females and more generally suggested that associations between individual genes, and neurochemical pathways, contributing to traits relevant to the social sciences can be provisionally identified. © 2015 The Author(s).

  6. Association between the dopamine D4 receptor gene exon III variable number of tandem repeats and political attitudes in female Han Chinese

    Science.gov (United States)

    Ebstein, Richard P.; Monakhov, Mikhail V.; Lu, Yunfeng; Jiang, Yushi; Lai, Poh San; Chew, Soo Hong

    2015-01-01

    Twin and family studies suggest that political attitudes are partially determined by an individual's genotype. The dopamine D4 receptor gene (DRD4) exon III repeat region that has been extensively studied in connection with human behaviour, is a plausible candidate to contribute to individual differences in political attitudes. A first United States study provisionally identified this gene with political attitude along a liberal–conservative axis albeit contingent upon number of friends. In a large sample of 1771 Han Chinese university students in Singapore, we observed a significant main effect of association between the DRD4 exon III variable number of tandem repeats and political attitude. Subjects with two copies of the 4-repeat allele (4R/4R) were significantly more conservative. Our results provided evidence for a role of the DRD4 gene variants in contributing to individual differences in political attitude particularly in females and more generally suggested that associations between individual genes, and neurochemical pathways, contributing to traits relevant to the social sciences can be provisionally identified. PMID:26246555

  7. [Using exon combined target region capture sequencing chip to detect the disease-causing genes of retinitis pigmentosa].

    Science.gov (United States)

    Rong, Weining; Chen, Xuejuan; Li, Huiping; Liu, Yani; Sheng, Xunlun

    2014-06-01

    To detect the disease-causing genes of 10 retinitis pigmentosa pedigrees by using exon combined target region capture sequencing chip. Pedigree investigation study. From October 2010 to December 2013, 10 RP pedigrees were recruited for this study in Ningxia Eye Hospital. All the patients and family members received complete ophthalmic examinations. DNA was abstracted from patients, family members and controls. Using exon combined target region capture sequencing chip to screen the candidate disease-causing mutations. Polymerase chain reaction (PCR) and direct sequencing were used to confirm the disease-causing mutations. Seventy patients and 23 normal family members were recruited from 10 pedigrees. Among 10 RP pedigrees, 1 was autosomal dominant pedigrees and 9 were autosomal recessive pedigrees. 7 mutations related to 5 genes of 5 pedigrees were detected. A frameshift mutation on BBS7 gene was detected in No.2 pedigree, the patients of this pedigree combined with central obesity, polydactyly and mental handicap. No.2 pedigree was diagnosed as Bardet-Biedl syndrome finally. A missense mutation was detected in No.7 and No.10 pedigrees respectively. Because the patients suffered deafness meanwhile, the final diagnosis was Usher syndrome. A missense mutation on C3 gene related to age-related macular degeneration was also detected in No. 7 pedigrees. A nonsense mutation and a missense mutation on CRB1 gene were detected in No. 1 pedigree and a splicesite mutation on PROM1 gene was detected in No. 5 pedigree. Retinitis pigmentosa is a kind of genetic eye disease with diversity clinical phenotypes. Rapid and effective genetic diagnosis technology combined with clinical characteristics analysis is helpful to improve the level of clinical diagnosis of RP.

  8. Polymorphism of the promoter region and exon 1 of the CTLA4 gene in endemic pemphigus foliaceus (fogo selvagem

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    D.P. Pavoni

    2006-09-01

    Full Text Available Endemic pemphigus foliaceus (EPF is an autoimmune bullous skin disease characterized by acantholysis and antibodies against a desmosomal protein, desmoglein 1. Genetic and environmental factors contribute to development of this multifactorial disease. HLA class II and some cytokine gene polymorphisms are the only genetic markers thus far known to be associated with susceptibility to or protection from EPF. The cytotoxic T-lymphocyte antigen-4 gene (CTLA4 encodes a key immunoreceptor molecule that regulates and inhibits T-cell proliferation. It participates in the regulatory process controlling autoreactivity and therefore has been considered a strong candidate gene in autoimmune diseases. In the search for genes that might influence EPF pathogenesis, we analyzed variants of the CTLA4 gene in a sample of 118 patients and 291 controls from a Brazilian population. This is the first study investigating the possible role of polymorphisms of the 2q33 chromosomal region in differential susceptibility to pemphigus foliaceus. Promoter region and exon 1 single nucleotide polymorphisms -318 (C,T and 49 (A,G were genotyped using sequence-specific oligonucleotide probes after amplification by the polymerase chain reaction. The allelic and genotypic frequencies did not differ significantly between the patient and the control groups (-318T: 9.8 and 10.9%, 49G: 33.0 and 35.2% were the allelic frequencies in patients and controls, respectively. In addition, no significant difference was found when the patient and control population samples were stratified by the presence of HLA-DRB1 alleles. We conclude that the CTLA4 -318 (C,T and 49 (A,G polymorphisms do not play a major role in EPF development.

  9. Alternative-splicing in the exon-10 region of GABA(A receptor beta(2 subunit gene: relationships between novel isoforms and psychotic disorders.

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    Cunyou Zhao

    Full Text Available BACKGROUND: Non-coding single nucleotide polymorphisms (SNPs in GABRB2, the gene for beta(2-subunit of gamma-aminobutyric acid type A (GABA(A receptor, have been associated with schizophrenia (SCZ and quantitatively correlated to mRNA expression and alternative splicing. METHODS AND FINDINGS: Expression of the Exon 10 region of GABRB2 from minigene constructs revealed this region to be an "alternative splicing hotspot" that readily gave rise to differently spliced isoforms depending on intron sequences. This led to a search in human brain cDNA libraries, and the discovery of two novel isoforms, beta(2S1 and beta(2S2, bearing variations in the neighborhood of Exon-10. Quantitative real-time PCR analysis of postmortem brain samples showed increased beta(2S1 expression and decreased beta(2S2 expression in both SCZ and bipolar disorder (BPD compared to controls. Disease-control differences were significantly correlated with SNP rs187269 in BPD males for both beta(2S1 and beta(2S2 expressions, and significantly correlated with SNPs rs2546620 and rs187269 in SCZ males for beta(2S2 expression. Moreover, site-directed mutagenesis indicated that Thr(365, a potential phosphorylation site in Exon-10, played a key role in determining the time profile of the ATP-dependent electrophysiological current run-down. CONCLUSION: This study therefore provided experimental evidence for the importance of non-coding sequences in the Exon-10 region in GABRB2 with respect to beta(2-subunit splicing diversity and the etiologies of SCZ and BPD.

  10. Measure of uncertainty in regional grade variability

    NARCIS (Netherlands)

    Tutmez, B.; Kaymak, U.; Melin, P.; Castillo, O.; Gomez Ramirez, E.; Kacprzyk, J.; Pedrycz, W.

    2007-01-01

    Because the geological events are neither homogeneous nor isotropic, the geological investigations are characterized by particularly high uncertainties. This paper presents a hybrid methodology for measuring of uncertainty in regional grade variability. In order to evaluate the fuzziness in grade

  11. Genetic alteration with variable intron/exon organization amongst five PI-homoeologous genes in Platanus acerifolia.

    Science.gov (United States)

    Zhang, Jiaqi; Guo, Cong; Liu, Guofeng; Li, Zhineng; Li, Xiaomei; Bao, Manzhu

    2011-03-01

    Flower development has been extensively characterized in the model species Arabidopsis thaliana and Antirrhinum majus. However, there have been few studies in woody species. Here, we report the isolation and characterization of five PISTILLATA (PI) homoeologous genes (PaPI1-to-5) from the London Plane tree (Platanus acerifolia Willd). PaPI1 and PaPI2 show a similar genomic structure to other known PI homoeologs, but PaPI3/4/5 lack intron sequences. In addition, PaPI5 lacks the third, fourth and fifth exons which encode the K-domain. These altered gene copies may have originated as 'processed' retrogenes. PaPI2 appears micro-regulated by alternative splicing, displaying three splice forms (PaPI2a, PaPI2b and PaPI2c). RT-PCR analysis showed different expression profiles and transcript abundance for the five PaPI genes. PaPI transcripts encoding full-length polypeptides were expressed predominantly in male/female inflorescences and PaPI2a was the most abundant transcript (59%) indicating that PaPI2 may be the major functional PI-homoeolog in London Plane. Phenotypic characterization in a heterologous expression system demonstrated that the full-length PaPI product functions as a B class gene. By contrast the PaPI5 form, which lacks the K-domain, had no apparent effect on flower development. In vitro studies also demonstrated that the K-domain is required to form PaPI/PaAP3 heterodimers. Copyright © 2010 Elsevier B.V. All rights reserved.

  12. Climatological variability in regional air pollution

    International Nuclear Information System (INIS)

    Shannon, J.D.; Trexler, E.C. Jr.

    1995-01-01

    Although some air pollution modeling studies examine events that have already occurred (e.g., the Chernobyl plume) with relevant meteorological conditions largely known, most pollution modeling studies address expected or potential scenarios for the future. Future meteorological conditions, the major pollutant forcing function other than emissions, are inherently uncertain although much relevant information is contained in past observational data. For convenience in our discussions of regional pollutant variability unrelated to emission changes, we define meteorological variability as short-term (within-season) pollutant variability and climatological variability as year-to-year changes in seasonal averages and accumulations of pollutant variables. In observations and in some of our simulations the effects are confounded because for seasons of two different years both the mean and the within-season character of a pollutant variable may change. Effects of climatological and meteorological variability on means and distributions of air pollution parameters, particularly those related to regional visibility, are illustrated. Over periods of up to a decade climatological variability may mask or overstate improvements resulting from emission controls. The importance of including climatological uncertainties in assessing potential policies, particularly when based partly on calculated source-receptor relationships, is highlighted

  13. Genetic variants in the exon region of versican predict survival of patients with resected early-stage hepatitis B virus-associated hepatocellular carcinoma

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    Liu X

    2018-05-01

    Full Text Available Xiaoguang Liu,* Chuangye Han,* Xiwen Liao, Long Yu, Guangzhi Zhu, Hao Su, Wei Qin, Sicong Lu, Xinping Ye, Tao Peng Department of Hepatobiliary Surgery, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi Zhuang Autonomous Region, China *These authors contributed equally to this work Background: The upregulated expression of versican (VCAN promotes the proliferation, invasion, and metastasis of various types of human cancer cells, including hepatocellular carcinoma (HCC cells. Patients and methods: In this study, genetic variants in the exon region of VCAN were genotyped by DNA sequencing. Prognostic values of VCAN exon single nucleotide polymorphisms (SNPs were assessed by Kaplan–Meier with the log-rank test, and uni- and multivariate Cox proportional hazard regression model. Results: A total of 111 patients with resected hepatitis B virus-associated early-stage HCC were collected for genotyping VCAN exon SNPs using Sanger DNA sequencing. Haplotype analysis was performed using Haploview 4.2. Survival data were analyzed using Kaplan–Meier curves and Cox proportional hazards regression analyses. The rs2652098, rs309559, rs188703, rs160278, and rs160277 SNPs were significantly associated with overall patient survival (p<0.001, p=0.012, p=0.010, p=0.007, and p=0.007, respectively. Patients carrying the TAGTG haplotype had a poorer prognosis than those with the most common CGAAT haplotype, after adjusting for tumor size, tumor capsule, and regional invasion (adjusted hazard ratio [HR] =2.06, 95% CI: 1.27–3.34, p=0.003. Meanwhile, patients with the TAGTG haplotype and a larger tumor size or an incomplete tumor capsule had an increased risk of death, compared with the others (adjusted HR =3.00, 95% CI: 1.67–5.36, p<0.001; and adjusted HR = 1.99, 95% CI = 1.12–3.55, p = 0.02, respectively. The online database mining analysis showed that upregulated VCAN expression in HCC tissues was associated with a poor overall

  14. Region-specific expression and hormonal regulation of the first exon variants of rat prolactin receptor mRNA in rat brain and anterior pituitary gland.

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    Nogami, H; Hoshino, R; Ogasawara, K; Miyamoto, S; Hisano, S

    2007-08-01

    Recent studies have revealed the occurrence of five first exon variants of the rat prolactin receptor mRNA, suggesting that multiple promoters direct prolactin receptor transcription in response to different regulatory factors. In the present study, regional expression of these first exon variants, as well as two prolactin receptor subtypes generated by alternative splicing, was examined in the brains and anterior pituitary glands of female rats. Expression of the long-form was detected in the choroid plexus, hypothalamus, hippocampus, cerebral cortex and anterior pituitary gland, whereas the short form was detected only in the choroid plexus. E1-3 mRNA, a first exon variant, was detected in the choroid plexus, hypothalamus, and anterior pituitary gland, whereas E1-4 was detected only in the choroid plexus. Other variants were not detectable by the polymerase chain reaction protocol employed in this study. Ovariectomy increased the short form in the choroid plexus and the E1-3 expression in the choroid plexus and pituitary gland, but changes in the long-form and E1-4 expression were minimal. Replacement of oestrogens and prolactin suggest that oestrogens down-regulate E1-3 expression in the choroid plexus and pituitary gland, and that the negative effect of oestrogen is mediated by prolactin in the pituitary gland. The present results revealed the region-specific promoter usage in prolactin receptor mRNA transcription, as well as the involvement of oestrogens in the regulation of E1-3 mRNA expression in the brain and pituitary gland.

  15. Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene

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    Gamero Miguel A

    2003-07-01

    Full Text Available Abstract Background Cerebral cavernous malformations (CCM present as either sporadic or autosomal dominant conditions with incomplete penetrance of symptoms. Differences in genetic and environmental factors might be minimized among first-degree relatives. We therefore studied clinical expression in a family with several affected members. Methods We studied a three-generation family with the onset of CCM as a cerebral haemorrhage in the younger (four-year-old sibling. Identification and enumeration of CCMs were performed in T2-weighted or gradient-echo MRIs of the whole brains. Genetic analysis comprised SCCP, sequencing and restriction polymorphism of the Krit1 gene in the proband and at risk relatives. Results The phenotypes of cerebral cavernous malformations (CCMs in carriers of Krit1 mutations were very variable. We identified a novel frameshift mutation caused by a 1902A insertion in exon 17 of the Krit1 gene, which leads to a premature TAA triplet and predicts the truncating phenotype Y634X. A very striking finding was the absence of both clinical symptoms and CCMs in the eldest sibling harbouring the 1902insA. Conclusions Patients in this family, harbouring the same mutation, illustrate the very variable clinical and radiological expression of a Krit1 mutation. The early and critical onset in the proband contrasts with minor clinical findings in affected relatives. This consideration is important in genetic counselling.

  16. Investigation of the 5' flanking region and exon 3 polymorphisms of IGF-1 gene showed moderate association with semen quality in Sanjabi breed rams.

    Science.gov (United States)

    Bakhtiar, R; Abdolmohammadi, A; Hajarian, H; Nikousefat, Z; Kalantar-Neyestanaki, D

    2017-12-01

    In this study, semen samples were collected from 96 Sanjabi rams in order to investigate the IGF-1 gene polymorphisms and their relationship with the characteristics of semen quality and testicular size. The dimensions of scrotal length, width and circumference were measured during autumn and spring over two years. Blood samples were simultaneously collected from jugular vein to extract DNA. PCR was performed using specific primers to amplify 294 and 272bp fragments including 5' regulatory region and exon 3 of IGF-1 gene, respectively. PCR products were digested by BFOI and Eco88l restriction enzymes, respectively. Two genotypes including AA (194 and 100bp), AB (294, 194 and 100bp) and all possible genotypes including CC (182 and 90bp), CT (272, 182, and 90bp) and TT (272bp) were observed for 5' flanking region and exon 3 of IGF-1 gene, respectively. The significant differences among IGF-1 genotypes for testicular dimensions were not observed. However, the polymorphism of 5' flanking region in the studied population had significant effect on individual motility and percent morphology traits. Animals with AB genotype had significantly higher individual motility compared with AA genotype (P IGF-1 gene had significant effect on individual motility, concentration, morphology and water test traits. Animals with CT genotype had the highest sperm concentration (P IGF-1 genotypes. It might be concluded that polymorphisms in IGF-1gene can be considered to develop male fertility in future and for using in selection process of better animals under masker assisted selection programs. Copyright © 2017 Elsevier Inc. All rights reserved.

  17. Widespread Shortening of 3' Untranslated Regions and Increased Exon Inclusion Are Evolutionarily Conserved Features of Innate Immune Responses to Infection.

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    Athma A Pai

    2016-09-01

    Full Text Available The contribution of pre-mRNA processing mechanisms to the regulation of immune responses remains poorly studied despite emerging examples of their role as regulators of immune defenses. We sought to investigate the role of mRNA processing in the cellular responses of human macrophages to live bacterial infections. Here, we used mRNA sequencing to quantify gene expression and isoform abundances in primary macrophages from 60 individuals, before and after infection with Listeria monocytogenes and Salmonella typhimurium. In response to both bacteria we identified thousands of genes that significantly change isoform usage in response to infection, characterized by an overall increase in isoform diversity after infection. In response to both bacteria, we found global shifts towards (i the inclusion of cassette exons and (ii shorter 3' UTRs, with near-universal shifts towards usage of more upstream polyadenylation sites. Using complementary data collected in non-human primates, we show that these features are evolutionarily conserved among primates. Following infection, we identify candidate RNA processing factors whose expression is associated with individual-specific variation in isoform abundance. Finally, by profiling microRNA levels, we show that 3' UTRs with reduced abundance after infection are significantly enriched for target sites for particular miRNAs. These results suggest that the pervasive usage of shorter 3' UTRs is a mechanism for particular genes to evade repression by immune-activated miRNAs. Collectively, our results suggest that dynamic changes in RNA processing may play key roles in the regulation of innate immune responses.

  18. Selection Signatures in the First Exon of Paralogous Receptor Kinase Genes from the Sym2 Region of the Pisum sativum L. Genome

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    Anton S. Sulima

    2017-11-01

    Full Text Available During the initial step of the symbiosis between legumes (Fabaceae and nitrogen-fixing bacteria (rhizobia, the bacterial signal molecule known as the Nod factor (nodulation factor is recognized by plant LysM motif-containing receptor-like kinases (LysM-RLKs. The fifth chromosome of barrel medic (Medicago truncatula Gaertn. contains a cluster of paralogous LysM-RLK genes, one of which is known to participate in symbiosis. In the syntenic region of the pea (Pisum sativum L. genome, three genes have been identified: PsK1 and PsSym37, two symbiosis-related LysM-RLK genes with known sequences, and the unsequenced PsSym2 gene which presumably encodes a LysM-RLK and is associated with increased selectivity to certain Nod factors. In this work, we identified a new gene encoding a LysM-RLK, designated as PsLykX, within the Sym2 genomic region. We sequenced the first exons (corresponding to the protein receptor domain of PsSym37, PsK1, and PsLykX from a large set of pea genotypes of diverse origin. The nucleotide diversity of these fragments was estimated and groups of haplotypes for each gene were revealed. Footprints of selection pressure were detected via comparative analyses of SNP distribution across the first exons of these genes and their homologs MtLYK2, MtLYK3, and MtLYK4 from M. truncatula retrieved from the Medicago Hapmap project. Despite the remarkable similarity among all the studied genes, they exhibited contrasting selection signatures, possibly pointing to diversification of their functions. Signatures of balancing selection were found in LysM1-encoding parts of PsSym37 and PsK1, suggesting that the diversity of these parts may be important for pea LysM-RLKs. The first exons of PsSym37 and PsK1 displayed signatures of purifying selection, as well as MtLYK2 of M. truncatula. Evidence of positive selection affecting primarily LysM domains was found in all three investigated M. truncatula genes, as well as in the pea gene PsLykX. The data

  19. Novel SNPs in the exon region of bovine DKK4 gene and their association with body measurement traits in Qinchuan cattle.

    Science.gov (United States)

    Gao, J B; Li, Y K; Yang, N; Ma, X H; Adoligbe, C; Jiang, B J; Fu, C Z; Cheng, G; Zan, L S

    2013-02-28

    The aim of this study was to determine whether single nucleotide polymorphisms (SNPs) of bovine Dickkopf homolog 4 (DKK4) are associated with body measurement traits in Qinchuan cattle. By using PCR-SSCP technology and DNA sequencing, we discovered 5 DKK4 SNPs in Qingchuan cattle, including -65G>A and -77G>T in the 5'-untranslated region, 1532C>G and 1533T>C in exon 2, and 2088C>T in exon 3. The sequencing map showed that 1532C>G and 1533T>C were in close linkage disequilibrium and were treated as 1532C>G-1533T>C in this study. Allele frequencies were calculated and analyzed by the chi-square test, which showed that -65G>A and 1532C>G-1533T>C were in Hardy-Weinberg equilibrium (P > 0.05), whereas -77G>T and 2088C>T were not in all 633 tested Qinchuan cattle individuals (P A; 0.472, 1.894, and 0.361 at -77G>T; 0.476, 1.908, and 0.363 at 1532C>G-1533T>C; and 0.218, 1.279, and 0.195 at 2088C>T. We also evaluated the potential association of these SNPs with body measurement traits in all 633 individuals; the results suggest that several SNPs in Qinchuan cattle DKK4 were significantly associated with body length, hip height, rump length, hip width, heart girth, and pin bone width (P bovine DKK4 could be used as candidate gene for Qinchuan cattle breeding.

  20. Extreme Variables in Star Forming Regions

    Science.gov (United States)

    Contreras Peña, Carlos Eduardo

    2015-01-01

    in two multi-epoch infrared surveys: the UKIDSS Galactic Plane Survey (GPS) and the Vista Variables in the Via Lactea (VVV). In order to further investigate the nature of the selected variable stars, we use photometric information arising from public surveys at near- to far-infrared wavelengths. In addition we have performed spectroscopic and photometric follow-up for a large subset of the samples arising from GPS and VVV. We analyse the widely separated two-epoch K-band photometry in the 5th, 7th and 8th data releases of the UKIDSS Galactic Plane Survey. We find 71 stars with ΔK > 1 mag, including 2 previously known OH/IR stars and a Nova. Even though the mid-plane is mostly excluded from the dataset, we find the majority (66%) of our sample to be within known star forming regions (SFRs), with two large concentrations in the Serpens OB2 association (11 stars) and the Cygnus-X complex (27 stars). The analysis of the multi-epoch K-band photometry of 2010-2012 data from VVV covering the Galactic disc at |b| explained as arising from shock-excited emission caused by molecular outflows. Whether these molecular outflows are related to outbursts events cannot be confirmed from our data. Adding the GPS and VVV spectroscopic results, we find that between 6 and 14 objects are new additions to the FUor class from their close resemblance to the near-infrared spectra of FUors, and at least 23 more objects are new additions to the eruptive variable class. For most of these we are unable to classify them into any of the original definitions for this variable class. In any case, we are adding up to 37 new stars to the eruptive variable class which would double the current number of known objects. We note that most objects are found to be deeply embedded optically invisible stars, thus increasing the number of objects belonging to this subclass by a much larger factor. In general, objects in our samples which are found to be likely eruptive variable stars show a mixture of

  1. Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity

    International Nuclear Information System (INIS)

    Lubahn, D.B.; Simental, J.A.; Higgs, H.N.; Wilson, E.M.; French, F.S.; Brown, T.R.; Migeon, C.J.

    1989-01-01

    Androgens act through a receptor protein (AR) to mediate sex differentiation and development of the male phenotype. The authors have isolated the eight exons in the amino acid coding region of the AR gene from a human X chromosome library. Nucleotide sequences of the AR gene intron/exon boundaries were determined for use in designing synthetic oligonucleotide primers to bracket coding exons for amplification by the polymerase chain reaction. Genomic DNA was amplified from 46, XY phenotypic female siblings with complete androgen insensitivity syndrome. AR binding affinity for dihydrotestosterone in the affected siblings was lower than in normal males, but the binding capacity was normal. Sequence analysis of amplified exons demonstrated within the AR steroid-binding domain (exon G) a single guanine to adenine mutation, resulting in replacement of valine with methionine at amino acid residue 866. As expected, the carrier mother had both normal and mutant AR genes. Thus, a single point mutation in the steroid-binding domain of the AR gene correlated with the expression of an AR protein ineffective in stimulating male sexual development

  2. Common and rare variants in the exons and regulatory regions of osteoporosis-related genes improve osteoporotic fracture risk prediction.

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    Lee, Seung Hun; Kang, Moo Il; Ahn, Seong Hee; Lim, Kyeong-Hye; Lee, Gun Eui; Shin, Eun-Soon; Lee, Jong-Eun; Kim, Beom-Jun; Cho, Eun-Hee; Kim, Sang-Wook; Kim, Tae-Ho; Kim, Hyun-Ju; Yoon, Kun-Ho; Lee, Won Chul; Kim, Ghi Su; Koh, Jung-Min; Kim, Shin-Yoon

    2014-11-01

    Osteoporotic fracture risk is highly heritable, but genome-wide association studies have explained only a small proportion of the heritability to date. Genetic data may improve prediction of fracture risk in osteopenic subjects and assist early intervention and management. To detect common and rare variants in coding and regulatory regions related to osteoporosis-related traits, and to investigate whether genetic profiling improves the prediction of fracture risk. This cross-sectional study was conducted in three clinical units in Korea. Postmenopausal women with extreme phenotypes (n = 982) were used for the discovery set, and 3895 participants were used for the replication set. We performed targeted resequencing of 198 genes. Genetic risk scores from common variants (GRS-C) and from common and rare variants (GRS-T) were calculated. Nineteen common variants in 17 genes (of the discovered 34 functional variants in 26 genes) and 31 rare variants in five genes (of the discovered 87 functional variants in 15 genes) were associated with one or more osteoporosis-related traits. Accuracy of fracture risk classification was improved in the osteopenic patients by adding GRS-C to fracture risk assessment models (6.8%; P risk in an osteopenic individual.

  3. Cloud-based adaptive exon prediction for DNA analysis.

    Science.gov (United States)

    Putluri, Srinivasareddy; Zia Ur Rahman, Md; Fathima, Shaik Yasmeen

    2018-02-01

    Cloud computing offers significant research and economic benefits to healthcare organisations. Cloud services provide a safe place for storing and managing large amounts of such sensitive data. Under conventional flow of gene information, gene sequence laboratories send out raw and inferred information via Internet to several sequence libraries. DNA sequencing storage costs will be minimised by use of cloud service. In this study, the authors put forward a novel genomic informatics system using Amazon Cloud Services, where genomic sequence information is stored and accessed for processing. True identification of exon regions in a DNA sequence is a key task in bioinformatics, which helps in disease identification and design drugs. Three base periodicity property of exons forms the basis of all exon identification techniques. Adaptive signal processing techniques found to be promising in comparison with several other methods. Several adaptive exon predictors (AEPs) are developed using variable normalised least mean square and its maximum normalised variants to reduce computational complexity. Finally, performance evaluation of various AEPs is done based on measures such as sensitivity, specificity and precision using various standard genomic datasets taken from National Center for Biotechnology Information genomic sequence database.

  4. A study on single nucleotide polymorphism of exon 7 T/C (locus 593 of platelet-activating factor acetylhydrolase gene in healthy Han population in the Shanghai region

    Directory of Open Access Journals (Sweden)

    Tian-bao XIA

    2012-08-01

    Full Text Available Objective To investigate the distribution of single nucleotide polymorphism (SNP in platelet-activating factor acetylhydrolase (PAF-AH gene exon 7 T/C (locus 593 in healthy Han population in Shanghai region and the features different from other races. Methods The SNP in PAF-AH gene exon 7 T/C (locus 593 was detected and analyzed by PCR and sequencing in 110 healthy Han people from Shanghai areas. The genotype and allele frequency were then calculated and compared with that in other races in combination with review of relevant literature. Results The amplified product of the SNP in PAF-AH gene exon 7 T/C (locus 593 was 240 bp in 110 healthy Han people, of whom 97 were with TT genotype and 13 with TC genotype, but no CC genotype was found. As to the allele frequency distribution, T type allele took the highest position, and C type followed. The genotype frequency of TT and TC was 88.2% and 11.8%, respectively, and they were markedly different from that in German population (0.95%, while not statistically significant different from that in British population (7.67%. Conclusions There exists SNP in PAF-AH gene exon 7 T/C (position 593 in healthy Han people in Shanghai region, with a higher frequency of T→C mutation. The mutational genotype frequency is found to be located at the locus 593 is 11.81%, and it is markedly different from that in German population, but not significantly different from that in British population.

  5. The Frequency of MEFV Gene Mutations and Genotypes in Sanliurfa Province, South-Eastern Region of Turkey, after the Syrian Civil War by Using Next Generation Sequencing and Report of a Novel Exon 4 Mutation (I423T

    Directory of Open Access Journals (Sweden)

    Evren Gumus

    2018-05-01

    Full Text Available Background: Familial Mediterranean Fever (FMF is a genetic disorder characterized by recurrent episodes of fever and abdominal pain. Mutations in the Mediterranean fever (MEFV gene are localized on the p arm of chromosome 16. Over 333 MEFV sequence variants have been identified so far in FMF patients, which occur mostly in the 2nd and 10th exons of the gene. Methods: In this study, 296 unrelated patients with clinical suspicion of FMF, which were admitted during January–December 2017, were retrospectively reviewed to identify the frequency of MEFV gene mutations by using next generation sequencing. Results: Eighteen different mutations, 45 different genotypes and a novel exon 4 (I423T mutation were identified in this study. This mutation is the fourth mutation identified in exon 4.The most frequent mutation was R202Q, followed by M694V, E148Q, M680I, R761H, V726A and R354W. Conclusions: One of the most important aims of this study is to investigate the MEFV mutation type and genotype of migrants coming to Sanliurfa after the civil war of Syria. This study also examines the effect of the condition on the region’s gene pool and the distribution of different types of mutations. Our results indicated that MEFV mutations are highly heterogeneous in our patient population, which is consistent with the findings of other studies in our region. Previously used methods, such as Restriction Fragment Length Polymorphism (RFLP, do not define uncommon or especially novel mutations. Therefore, Next Generation Sequencing (NGS analysis of the MEFV gene could be useful for finding novel mutations, except for those located on exon 2 and 10.

  6. The Frequency of MEFV Gene Mutations and Genotypes in Sanliurfa Province, South-Eastern Region of Turkey, after the Syrian Civil War by Using Next Generation Sequencing and Report of a Novel Exon 4 Mutation (I423T).

    Science.gov (United States)

    Gumus, Evren

    2018-05-07

    Familial Mediterranean Fever (FMF) is a genetic disorder characterized by recurrent episodes of fever and abdominal pain. Mutations in the Mediterranean fever (MEFV) gene are localized on the p arm of chromosome 16. Over 333 MEFV sequence variants have been identified so far in FMF patients, which occur mostly in the 2nd and 10th exons of the gene. In this study, 296 unrelated patients with clinical suspicion of FMF, which were admitted during January⁻December 2017, were retrospectively reviewed to identify the frequency of MEFV gene mutations by using next generation sequencing. Eighteen different mutations, 45 different genotypes and a novel exon 4 (I423T) mutation were identified in this study. This mutation is the fourth mutation identified in exon 4.The most frequent mutation was R202Q, followed by M694V, E148Q, M680I, R761H, V726A and R354W. One of the most important aims of this study is to investigate the MEFV mutation type and genotype of migrants coming to Sanliurfa after the civil war of Syria. This study also examines the effect of the condition on the region’s gene pool and the distribution of different types of mutations. Our results indicated that MEFV mutations are highly heterogeneous in our patient population, which is consistent with the findings of other studies in our region. Previously used methods, such as Restriction Fragment Length Polymorphism (RFLP), do not define uncommon or especially novel mutations. Therefore, Next Generation Sequencing (NGS) analysis of the MEFV gene could be useful for finding novel mutations, except for those located on exon 2 and 10.

  7. Coral bleaching pathways under the control of regional temperature variability

    Science.gov (United States)

    Langlais, C. E.; Lenton, A.; Heron, S. F.; Evenhuis, C.; Sen Gupta, A.; Brown, J. N.; Kuchinke, M.

    2017-11-01

    Increasing sea surface temperatures (SSTs) are predicted to adversely impact coral populations worldwide through increasing thermal bleaching events. Future bleaching is unlikely to be spatially uniform. Therefore, understanding what determines regional differences will be critical for adaptation management. Here, using a cumulative heat stress metric, we show that characteristics of regional SST determine the future bleaching risk patterns. Incorporating observed information on SST variability, in assessing future bleaching risk, provides novel options for management strategies. As a consequence, the known biases in climate model variability and the uncertainties in regional warming rate across climate models are less detrimental than previously thought. We also show that the thresholds used to indicate reef viability can strongly influence a decision on what constitutes a potential refugia. Observing and understanding the drivers of regional variability, and the viability limits of coral reefs, is therefore critical for making meaningful projections of coral bleaching risk.

  8. Similarities and discrepancies in homozygous factor VII defects due to mutations in the region of residues Met298 to Cys310 (exon 8) in the catalytic domain of factor VII.

    Science.gov (United States)

    Girolami, A; Berti de Marinis, G; Bonamigo, E; Vettore, S

    2011-06-01

    Patients with the Arg304Gln mutation in factor VII Padua (FVII Padua) show discrepant activity levels that depend on the thromboplastin used in the assay system. This report investigates the possibility that residues close to Arg304 (exon 8) show the same discrepant behavior. All available homozygous patients with a mutation in a 13-residue region (preceding and following Arg304) have been evaluated. Only the Arg304Trp mutation showed a discrepancy similar to that shown by the Arg304Gln mutation. Other homozygotes failed to show differences, despite their all being positive for cross-reacting material. Another FVII amino acid residue involved in tissue factor binding and activation is Arg79 (exon 4). No comparison could be carried out because no homozygotes for deficiency in this region have ever been described. The relationship between these 2 residues involved in tissue factor binding and activation has not yet been completely clarified; however, Arg residues 79 and 304 are the only 2 residues definitely shown thus far to be involved in this important function.

  9. Effects of short-term variability of meteorological variables on soil temperature in permafrost regions

    Science.gov (United States)

    Beer, Christian; Porada, Philipp; Ekici, Altug; Brakebusch, Matthias

    2018-03-01

    Effects of the short-term temporal variability of meteorological variables on soil temperature in northern high-latitude regions have been investigated. For this, a process-oriented land surface model has been driven using an artificially manipulated climate dataset. Short-term climate variability mainly impacts snow depth, and the thermal diffusivity of lichens and bryophytes. These impacts of climate variability on insulating surface layers together substantially alter the heat exchange between atmosphere and soil. As a result, soil temperature is 0.1 to 0.8 °C higher when climate variability is reduced. Earth system models project warming of the Arctic region but also increasing variability of meteorological variables and more often extreme meteorological events. Therefore, our results show that projected future increases in permafrost temperature and active-layer thickness in response to climate change will be lower (i) when taking into account future changes in short-term variability of meteorological variables and (ii) when representing dynamic snow and lichen and bryophyte functions in land surface models.

  10. Regional simulation of interannual variability over South America

    Science.gov (United States)

    Misra, V.; Dirmeyer, P. A.; Kirtman, B. P.; Juang, H.-M. Henry; Kanamitsu, M.

    2002-08-01

    Three regional climate simulations covering the austral summer season during three contrasting phases of the El Niño-Southern Oscillation cycle were conducted with the Regional Spectral Model (RSM) developed at the National Centers for Environmental Prediction (NCEP). The simulated interannual variability of precipitation over the Amazon River Basin, the Intertropical Convergence Zone, the Pacific and Atlantic Ocean basins, and extratropical South America compare reasonably well with observations. The RSM optimally filters the peturbations about a time-varying base field, thereby enhancing the information content of the global NCEP reanalysis. The model is better than the reanalysis in reproducing the observed interannual variability of outgoing longwave radiation at both high frequencies (3-30 days) and intraseasonal (30-60 days) scales. The low-level jet shows a peak in its speed in 1998 and a minimum in the 1999 simulations. The lag correlation of the jet index with convection over various areas in continental South America indicates that the jet induces precipitation over the Pampas region downstream. A detailed moisture budget was conducted over various subregions. This budget reveals that moisture flux convergence determines most of the interannual variability of precipitation over the Amazon Basin, the Atlantic Intertropical Convergence Zone, and the Nordeste region of Brazil. However, both surface evaporation and surface moisture flux convergence were found to be critical in determining the interannual variability of precipitation over the southern Pampas, Gran Chaco area, and the South Atlantic Convergence Zone.

  11. Correlations of CTLA-4 exon-1 49 A/G and promoter region 318C/T polymorphisms with the therapeutic efficacy of 131 I radionuclide in graves' disease in Chinese Han population.

    Science.gov (United States)

    Han, Xin-Rui; Wen, Xin; Wang, Shan; Fan, Shao-Hua; Zhuang, Juan; Wang, Yong-Jian; Zhang, Zi-Feng; Li, Meng-Qiu; Hu, Bin; Shan, Qun; Sun, Chun-Hui; Bao, Ya-Xing; Wu, Dong-Mei; Lu, Jun; Zheng, Yuan-Lin

    2017-08-04

    Graves' disease is an autoimmune process in which the thyroid gland is triggered by autoantibodies, resulting in hyperthyroidism. The purpose of the present study is to elucidate whether exon-1 49 A/G and promoter region 318C/T polymorphisms in the CTLA-4 gene. This study consisted of 653 eligible patients with Graves' disease. After receiving 131I radionuclide therapy, these patients were classified into the remission and non-remission groups. A logistic regression-based model was used to analyze independent factors affecting the patient response to 131I radionuclide therapy. The results showed that CTLA-4 49 A/G was closely related to the efficacy of 131 I treatment for Graves' disease (AG + GG vs. AA: OR = 6.543, 95%CI = 2.611 ∼ 16.40, P Graves' disease. Logistic regression analysis indicated that thyroid weight (OR = 0.963, 95%CI = 0.944 ∼ 0.982, P Graves' disease. These data indicated that CTLA-4 exon-1 49 A/G polymorphism may be associated with patient response to radionuclide 131 I therapy in Graves' disease. © 2017 Wiley Periodicals, Inc.

  12. Internal variability in a regional climate model over West Africa

    Energy Technology Data Exchange (ETDEWEB)

    Vanvyve, Emilie; Ypersele, Jean-Pascal van [Universite catholique de Louvain, Institut d' astronomie et de geophysique Georges Lemaitre, Louvain-la-Neuve (Belgium); Hall, Nicholas [Laboratoire d' Etudes en Geophysique et Oceanographie Spatiales/Centre National d' Etudes Spatiales, Toulouse Cedex 9 (France); Messager, Christophe [University of Leeds, Institute for Atmospheric Science, Environment, School of Earth and Environment, Leeds (United Kingdom); Leroux, Stephanie [Universite Joseph Fourier, Laboratoire d' etude des Transferts en Hydrologie et Environnement, BP53, Grenoble Cedex 9 (France)

    2008-02-15

    Sensitivity studies with regional climate models are often performed on the basis of a few simulations for which the difference is analysed and the statistical significance is often taken for granted. In this study we present some simple measures of the confidence limits for these types of experiments by analysing the internal variability of a regional climate model run over West Africa. Two 1-year long simulations, differing only in their initial conditions, are compared. The difference between the two runs gives a measure of the internal variability of the model and an indication of which timescales are reliable for analysis. The results are analysed for a range of timescales and spatial scales, and quantitative measures of the confidence limits for regional model simulations are diagnosed for a selection of study areas for rainfall, low level temperature and wind. As the averaging period or spatial scale is increased, the signal due to internal variability gets smaller and confidence in the simulations increases. This occurs more rapidly for variations in precipitation, which appear essentially random, than for dynamical variables, which show some organisation on larger scales. (orig.)

  13. Regional impacts of ocean color on tropical Pacific variability

    Science.gov (United States)

    Anderson, W.; Gnanadesikan, A.; Wittenberg, A.

    2009-08-01

    The role of the penetration length scale of shortwave radiation into the surface ocean and its impact on tropical Pacific variability is investigated with a fully coupled ocean, atmosphere, land and ice model. Previous work has shown that removal of all ocean color results in a system that tends strongly towards an El Niño state. Results from a suite of surface chlorophyll perturbation experiments show that the mean state and variability of the tropical Pacific is highly sensitive to the concentration and distribution of ocean chlorophyll. Setting the near-oligotrophic regions to contain optically pure water warms the mean state and suppresses variability in the western tropical Pacific. Doing the same above the shadow zones of the tropical Pacific also warms the mean state but enhances the variability. It is shown that increasing penetration can both deepen the pycnocline (which tends to damp El Niño) while shifting the mean circulation so that the wind response to temperature changes is altered. Depending on what region is involved this change in the wind stress can either strengthen or weaken ENSO variability.

  14. Regional impacts of ocean color on tropical Pacific variability

    Directory of Open Access Journals (Sweden)

    W. Anderson

    2009-08-01

    Full Text Available The role of the penetration length scale of shortwave radiation into the surface ocean and its impact on tropical Pacific variability is investigated with a fully coupled ocean, atmosphere, land and ice model. Previous work has shown that removal of all ocean color results in a system that tends strongly towards an El Niño state. Results from a suite of surface chlorophyll perturbation experiments show that the mean state and variability of the tropical Pacific is highly sensitive to the concentration and distribution of ocean chlorophyll. Setting the near-oligotrophic regions to contain optically pure water warms the mean state and suppresses variability in the western tropical Pacific. Doing the same above the shadow zones of the tropical Pacific also warms the mean state but enhances the variability. It is shown that increasing penetration can both deepen the pycnocline (which tends to damp El Niño while shifting the mean circulation so that the wind response to temperature changes is altered. Depending on what region is involved this change in the wind stress can either strengthen or weaken ENSO variability.

  15. Evaluating aggregate effects of rare and common variants in the 1000 Genomes Project exon sequencing data using latent variable structural equation modeling.

    Science.gov (United States)

    Nock, Nl; Zhang, Lx

    2011-11-29

    Methods that can evaluate aggregate effects of rare and common variants are limited. Therefore, we applied a two-stage approach to evaluate aggregate gene effects in the 1000 Genomes Project data, which contain 24,487 single-nucleotide polymorphisms (SNPs) in 697 unrelated individuals from 7 populations. In stage 1, we identified potentially interesting genes (PIGs) as those having at least one SNP meeting Bonferroni correction using univariate, multiple regression models. In stage 2, we evaluate aggregate PIG effects on trait, Q1, by modeling each gene as a latent construct, which is defined by multiple common and rare variants, using the multivariate statistical framework of structural equation modeling (SEM). In stage 1, we found that PIGs varied markedly between a randomly selected replicate (replicate 137) and 100 other replicates, with the exception of FLT1. In stage 1, collapsing rare variants decreased false positives but increased false negatives. In stage 2, we developed a good-fitting SEM model that included all nine genes simulated to affect Q1 (FLT1, KDR, ARNT, ELAV4, FLT4, HIF1A, HIF3A, VEGFA, VEGFC) and found that FLT1 had the largest effect on Q1 (βstd = 0.33 ± 0.05). Using replicate 137 estimates as population values, we found that the mean relative bias in the parameters (loadings, paths, residuals) and their standard errors across 100 replicates was on average, less than 5%. Our latent variable SEM approach provides a viable framework for modeling aggregate effects of rare and common variants in multiple genes, but more elegant methods are needed in stage 1 to minimize type I and type II error.

  16. Characterizing CDOM Spectral Variability Across Diverse Regions and Spectral Ranges

    Science.gov (United States)

    Grunert, Brice K.; Mouw, Colleen B.; Ciochetto, Audrey B.

    2018-01-01

    Satellite remote sensing of colored dissolved organic matter (CDOM) has focused on CDOM absorption (aCDOM) at a reference wavelength, as its magnitude provides insight into the underwater light field and large-scale biogeochemical processes. CDOM spectral slope, SCDOM, has been treated as a constant or semiconstant parameter in satellite retrievals of aCDOM despite significant regional and temporal variabilities. SCDOM and other optical metrics provide insights into CDOM composition, processing, food web dynamics, and carbon cycling. To date, much of this work relies on fluorescence techniques or aCDOM in spectral ranges unavailable to current and planned satellite sensors (e.g., global variability in SCDOM and fit deviations in the aCDOM spectra using the recently proposed Gaussian decomposition method. From this, we investigate if global variability in retrieved SCDOM and Gaussian components is significant and regionally distinct. We iteratively decreased the spectral range considered and analyzed the number, location, and magnitude of fitted Gaussian components to understand if a reduced spectral range impacts information obtained within a common spectral window. We compared the fitted slope from the Gaussian decomposition method to absorption-based indices that indicate CDOM composition to determine the ability of satellite-derived slope to inform the analysis and modeling of large-scale biogeochemical processes. Finally, we present implications of the observed variability for remote sensing of CDOM characteristics via SCDOM.

  17. Assessment of regional air pollution variability in Istanbul

    International Nuclear Information System (INIS)

    Sen, Z.; Oztopal, A.

    2001-01-01

    Air pollution concentrations have temporal and spatial variations depending on the prevailing weather conditions, topographic features, city building heights and locations. When the measurements of air pollutants are available at set measurement sites, the regional variability degree of air pollutants is quantified using the point cumulative semi-variogram (PCSV). This technique provides a systematic method for calculating the changes in the concentrations of air pollutants with distance from a specific site. Regional variations of sulphur dioxide (SO 2 ) and total suspended particulate (TSP) matter concentrations in Istanbul city were evaluated using the PCSV concept. The data were available from 16 different air pollution measurement stations scattered all over the city for a period from 1988 to 1994. Monthly regional variation maps were drawn in and around the city at different radii of influence. These maps provide a reference for measuring future changes of air pollution in the city. (author)

  18. Mesopause region temperature variability and its trend in southern Brazil

    Science.gov (United States)

    Venturini, Mateus S.; Bageston, José V.; Caetano, Nattan R.; Peres, Lucas V.; Bencherif, Hassan; Schuch, Nelson J.

    2018-03-01

    Nowadays, the study of the upper atmosphere is increasing, mostly because of the need to understand the patterns of Earth's atmosphere. Since studies on global warming have become very important for the development of new technologies, understanding all regions of the atmosphere becomes an unavoidable task. In this paper, we aim to analyze the temperature variability and its trend in the mesosphere and lower thermosphere (MLT) region during a period of 12 years (from 2003 to 2014). For this purpose, three different heights, i.e., 85, 90 and 95 km, were focused on in order to investigate the upper atmosphere, and a geographic region different to other studies was chosen, in the southern region of Brazil, centered in the city of Santa Maria, RS (29°41'02'' S; 53°48'25'' W). In order to reach the objectives of this work, temperature data from the SABER instrument (Sounding of the Atmosphere using Broadband Emission Radiometry), aboard NASA's Thermosphere Ionosphere Mesosphere Energetics Dynamics (TIMED) satellite, were used. Finally, two cases were studied related to distinct grids of latitude/longitude used to obtain the mean temperature profiles. The first case considered a grid of 20° × 20° lat/long, centered in Santa Maria, RS, Brazil. In the second case, the region was reduced to a size of 15° × 15° in order to compare the results and discuss the two cases in terms of differences or similarities in temperature trends. Observations show that the size of the geographical area used for the average temperature profiles can influence the results of variability and trend of the temperature. In addition, reducing the time duration of analyses from 24 to 12 h a day also influences the trend significantly. For the smaller geographical region (15° × 15°) and the 12 h daily time window (09:00-21:00 UT) it was found that the main contributions for the temperature variability at the three heights were the annual and semi-annual cycles and the solar flux influence

  19. THE EXON 5, 6, 7, 8 OF P53 MUTATIONS IN ORAL SQUAMOUS CELLS CARCINOMA

    Directory of Open Access Journals (Sweden)

    Retno P Rahayu

    2012-04-01

    Full Text Available Genetic instability may underlie the etiology of multistep carcinogenesis. The altered p53 gene observed in tumors may represent the expression of such instability and may allow the accumulation of other gene alterations caused by multiple mechanism. p53 gene is the guardian of the genome, that is why we pay more attention to this gene. In this study, we evaluated the significance of p53 mutation in 55 patient with oral squamous carcinoma. Thirty among them underwent well-differentiated carcinoma, while the remaining 25 patients underwent poorly differentiated carcinoma. The mutations were detected by PCR-SSCP (Single strand Conformational Polymorphism analysis in the region between exon 5 and exon 8. The results indicated that the p53 mutation in exon 5 (40%, exon 6 (28%, exon 7 (24% and exon 8 (8% were associated with poorly differentiated carcinoma, whereas mutation in exon 5 (10%, exon 6 (30%, exon 7 (40% and exon 8 (20% were associated with well-differentiated carcinoma. These observations suggest that p53 mutation in exon 5, 6, and 7 have strong correlation with poorly differentiated in oral squamous carcinoma while well-differentiated level was related with mutation in exon 6,7 and 8.

  20. Impact of Variable-Resolution Meshes on Regional Climate Simulations

    Science.gov (United States)

    Fowler, L. D.; Skamarock, W. C.; Bruyere, C. L.

    2014-12-01

    The Model for Prediction Across Scales (MPAS) is currently being used for seasonal-scale simulations on globally-uniform and regionally-refined meshes. Our ongoing research aims at analyzing simulations of tropical convective activity and tropical cyclone development during one hurricane season over the North Atlantic Ocean, contrasting statistics obtained with a variable-resolution mesh against those obtained with a quasi-uniform mesh. Analyses focus on the spatial distribution, frequency, and intensity of convective and grid-scale precipitations, and their relative contributions to the total precipitation as a function of the horizontal scale. Multi-month simulations initialized on May 1st 2005 using ERA-Interim re-analyses indicate that MPAS performs satisfactorily as a regional climate model for different combinations of horizontal resolutions and transitions between the coarse and refined meshes. Results highlight seamless transitions for convection, cloud microphysics, radiation, and land-surface processes between the quasi-uniform and locally- refined meshes, despite the fact that the physics parameterizations were not developed for variable resolution meshes. Our goal of analyzing the performance of MPAS is twofold. First, we want to establish that MPAS can be successfully used as a regional climate model, bypassing the need for nesting and nudging techniques at the edges of the computational domain as done in traditional regional climate modeling. Second, we want to assess the performance of our convective and cloud microphysics parameterizations as the horizontal resolution varies between the lower-resolution quasi-uniform and higher-resolution locally-refined areas of the global domain.

  1. Regional climate change: Precipitation variability in mountainous part of Bulgaria

    Directory of Open Access Journals (Sweden)

    Nikolova Nina

    2007-01-01

    Full Text Available The aim of paper is to analyze temporal and spatial changes in monthly precipitation as well as extremely dry and wet months in mountainous part of Bulgaria. Study precipitation variability in mountainous part is very important because this part is the region where the rivers take its source from. Extreme values of monthly precipitation are important information for better understanding of the whole variability and trends in precipitation time series. The mean investigated period is 1951-2005 and the reference period is so called temporary climate - 1961- 1990. Extreme dry precipitation months are defined as a month whose monthly precipitation is lower than 10% of gamma distribution in the reference period 1961-1990. Extreme wet months are determined with respect to 90% percentiles of gamma distribution (monthly precipitation is higher than 90%. The result of the research show that in mountainous part of Bulgaria during 1950s and 1960s number of extremely wet months is higher than number of dry months. Decreasing of monthly precipitation is a feature for 1980s. This dry period continues till 2004. The years 2000 makes impression as driest year in high mountains with about 7 extremely dry months. The second dry year is 1993. The negative precipitation anomaly is most clearly determined during last decade at study area. The present research points out that fluctuation of precipitation in mountainous part of Bulgaria are coinciding with regional and global climate trends.

  2. Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies.

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    Zhi Yon Charles Toh

    Full Text Available Duchenne and Becker muscular dystrophy severity depends upon the nature and location of the DMD gene lesion and generally correlates with the dystrophin open reading frame. However, there are striking exceptions where an in-frame genomic deletion leads to severe pathology or protein-truncating mutations (nonsense or frame-shifting indels manifest as mild disease. Exceptions to the dystrophin reading frame rule are usually resolved after molecular diagnosis on muscle RNA. We report a moderate/severe Becker muscular dystrophy patient with an in-frame genomic deletion of DMD exon 5. This mutation has been reported by others as resulting in Duchenne or Intermediate muscular dystrophy, and the loss of this in-frame exon in one patient led to multiple splicing events, including omission of exon 6, that disrupts the open reading frame and is consistent with a severe phenotype. The patient described has a deletion of dystrophin exon 5 that does not compromise recognition of exon 6, and although the deletion does not disrupt the reading frame, his clinical presentation is more severe than would be expected for classical Becker muscular dystrophy. We suggest that the dystrophin isoform lacking the actin-binding sequence encoded by exon 5 is compromised, reflected by the phenotype resulting from induction of this dystrophin isoform in mouse muscle in vivo. Hence, exon skipping to address DMD-causing mutations within DMD exon 5 may not yield an isoform that confers marked clinical benefit. Additional studies will be required to determine whether multi-exon skipping strategies could yield more functional dystrophin isoforms, since some BMD patients with larger in-frame deletions in this region have been reported with mild phenotypes.

  3. Long term precipitation trends and variability within the Mediterranean region

    Directory of Open Access Journals (Sweden)

    C. M. Philandras

    2011-12-01

    Full Text Available In this study, the trends and variability of annual precipitation totals and annual rain days over land within the Mediterranean region are analyzed. Long term ground-based observations concerning, on one hand, monthly precipitation totals (1900–2010 and rain days (1965–2010 from 40 meteorological stations within the Mediterranean region were obtained from the Hellenic National Meteorological Service and the World Climate Data and Monitoring Programme (WCDMP of the World Meteorological Organization. On the other hand, high spatial resolution (0.5° × 0.5° gridded monthly data CRU TS 3.1 were acquired from the Climatic Research Unit, University of East Anglia, for the period 1901–2009. The two datasets were compared by means of trends and variability, while the influence of the North Atlantic Oscillation (NAO in the Mediterranean precipitation was examined. In the process, the climatic changes in the precipitation regime between the period 1961–1990 (reference period and the period 2071–2100 (future climate were presented using climate model simulations (RACMO2.1/KNMI. The future climate projections were based on SRES A1B.

    The findings of the analysis showed that statistically significant (95% confidence level negative trends of the annual precipitation totals exist in the majority of Mediterranean regions during the period 1901–2009, with an exception of northern Africa, southern Italy and western Iberian peninsula, where slight positive trends (not statistically significant at 95% CL appear. Concerning the annual number of rain days, a pronounced decrease of 20 %, statistically significant (95% confidence level, appears in representative meteorological stations of east Mediterranean, while the trends are insignificant for west and central Mediterranean. Additionally, NAO index was found to be anticorrelated with the precipitation totals and the number of rain days mainly in Spain, southern France, Italy and Greece. These

  4. Influence of Climate Variability on US Regional Homicide Rates

    Science.gov (United States)

    Harp, R. D.; Karnauskas, K. B.

    2017-12-01

    Recent studies have found consistent evidence of a relationship between temperature and criminal behavior. However, despite agreement in the overall relationship, little progress has been made in distinguishing between two proposed explanatory theories. The General Affective Aggression Model (GAAM) suggests that high temperatures create periods of higher heat stress that enhance individual aggressiveness, whereas the Routine Activities Theory (RAT) theorizes that individuals are more likely to be outdoors interacting with others during periods of pleasant weather with a resulting increase in both interpersonal interactions and victim availability. Further, few studies have considered this relationship within the context of climate change in a quantitative manner. In an effort to distinguish between the two theories, and to examine the statistical relationships on a broader spatial scale than previously, we combined data from the Supplementary Homicide Report (SHR—compiled by the Federal Bureau of Investigation) and the North American Regional Reanalysis (NARR—compiled by the National Centers for Environmental Protection, a branch of the National Oceanic and Atmospheric Administration). US homicide data described by the SHR was compared with seven relevant observed climate variables (temperature, dew point, relative humidity, accumulated precipitation, accumulated snowfall, snow cover, and snow depth) provided by the NARR atmospheric reanalysis. Relationships between homicide rates and climate variables, as well as reveal regional spatial patterns will be presented and discussed, along with the implications due to future climate change. This research lays the groundwork for the refinement of estimates of an oft-overlooked climate change impact, which has previously been estimated to cause an additional 22,000 murders between 2010 and 2099, including providing important constraints for empirical models of future violent crime incidences in the face of global

  5. Climate variability and wine quality over Portuguese regions

    Science.gov (United States)

    Gouveia, Célia M.; Gani, Érico A.; Liberato, Margarida L. R.

    2015-04-01

    characterized in each region by high/low quality wines. Finally, we also investigated how climate variability is related to DOC wine quality for different regions using North Atlantic Oscillation (NAO) index. Results reveal a strong dependence of wine quality for all regions on maximum temperature and precipitation during spring and summer (the growing season) as expected. However the role of temperature on wine quality seems to be distinct among the diverse regions probably due to their different climate zoning. Moreover, it is shown that the differences associated with high/low quality wine are in agreement with different synoptic fields patterns. Our results suggest that this type of analysis may be used in developing a tool that may help anticipating a vintage/high quality year, based on already available seasonal climate outlooks. Santo F.E., de Lima M.I.P., Ramos A.M., Trigo R.M., Trends in seasonal surface air temperature in mainland Portugal, since 1941, International Journal Climatolology, 34: 1814-1837, doi: 10.1002/joc.3803 (2014) de Lima M.I.P., Santo F.E., Ramos A.M. , Trigo, R.M., Trends and correlations in annual extreme precipitation indices for mainland Portugal, 1941-2007, Theoretical and Applied Climatology, DOI:10.1007/s00704-013-1079-6 (2014) Acknowledgements: This work was partially supported by national funds through FCT (Fundação para a Ciência e a Tecnologia, Portugal) under project QSECA (PTDC/AAGGLO/4155/2012).

  6. Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis.

    Science.gov (United States)

    D'Souza, Leera; Cukras, Catherine; Antolik, Christian; Craig, Candice; Lee, Ji-Yun; He, Hong; Li, Shibo; Smaoui, Nizar; Hejtmancik, James F; Sieving, Paul A; Wang, Xinjing

    2013-01-01

    X-linked juvenile retinoschisis (XLRS) is a vitreoretinal dystrophy characterized by schisis (splitting) of the inner layers of the neuroretina. Mutations within the retinoschisis (RS1) gene are responsible for this disease. The mutation spectrum consists of amino acid substitutions, splice site variations, small indels, and larger genomic deletions. Clinically, genomic deletions are rarely reported. Here, we characterize two novel full exonic deletions: one encompassing exon 1 and the other spanning exons 4-5 of the RS1 gene. We also report the clinical findings in these patients with XLRS with two different exonic deletions. Unrelated XLRS men and boys and their mothers (if available) were enrolled for molecular genetics evaluation. The patients also underwent ophthalmologic examination and in some cases electroretinogram (ERG) recording. All the exons and the flanking intronic regions of the RS1 gene were analyzed with direct sequencing. Two patients with exonic deletions were further evaluated with array comparative genomic hybridization to define the scope of the genomic aberrations. After the deleted genomic region was identified, primer walking followed by direct sequencing was used to determine the exact breakpoints. Two novel exonic deletions of the RS1 gene were identified: one including exon 1 and the other spanning exons 4 and 5. The exon 1 deletion extends from the 5' region of the RS1 gene (including the promoter) through intron 1 (c.(-35)-1723_c.51+2664del4472). The exon 4-5 deletion spans introns 3 to intron 5 (c.185-1020_c.522+1844del5764). Here we report two novel exonic deletions within the RS1 gene locus. We have also described the clinical presentations and hypothesized the genomic mechanisms underlying these schisis phenotypes.

  7. Regional softwood sawmill processing variables as influenced by productive capacity

    Science.gov (United States)

    P. H. Steele; F. G. Wagner; K. E. Skog

    The relationship between annual softwood sawmill production and lumber processing variables was examined using data from Sawmill Improvement Program (SIP) studies of 650 softwood mills. The variables were lumber recovery factor (LRF); headrig and resaw kerf width; total sawing variation, rough green size, and oversizing-undersizing for 4/4 and 8/4 lumber; planer...

  8. Origins and Impacts of New Mammalian Exons

    Directory of Open Access Journals (Sweden)

    Jason J. Merkin

    2015-03-01

    Full Text Available Mammalian genes are composed of exons, but the evolutionary origins and functions of new internal exons are poorly understood. Here, we analyzed patterns of exon gain using deep cDNA sequencing data from five mammals and one bird, identifying thousands of species- and lineage-specific exons. Most new exons derived from unique rather than repetitive intronic sequence. Unlike exons conserved across mammals, species-specific internal exons were mostly located in 5′ UTRs and alternatively spliced. They were associated with upstream intronic deletions, increased nucleosome occupancy, and RNA polymerase II pausing. Genes containing new internal exons had increased gene expression, but only in tissues in which the exon was included. Increased expression correlated with the level of exon inclusion, promoter proximity, and signatures of cotranscriptional splicing. Altogether, these findings suggest that increased splicing at the 5′ ends of genes enhances expression and that changes in 5′ end splicing alter gene expression between tissues and between species.

  9. Regional impacts of ocean color on tropical Pacific variability

    OpenAIRE

    W. Anderson; A. Gnanadesikan; A. Wittenberg

    2009-01-01

    The role of the penetration length scale of shortwave radiation into the surface ocean and its impact on tropical Pacific variability is investigated with a fully coupled ocean, atmosphere, land and ice model. Previous work has shown that removal of all ocean color results in a system that tends strongly towards an El Niño state. Results from a suite of surface chlorophyll perturbation experiments show that the mean state and variability of the tropical Pacific is highly se...

  10. Climate Variability and Change in the Mediterranean Region

    Science.gov (United States)

    Lionello, Piero; Özsoy, Emin; Planton, Serge; Zanchetta, Giovanni

    2017-04-01

    This special issue collects new research results on the climate of the Mediterranean region. It covers traditional topics of the MedCLIVAR programme (www.medclivar.eu, Lionello et al. 2006, Lionello et al. 2012b) being devoted to papers addressing on-going and future climate changes in the Mediterranean region and their impacts on its environment.

  11. Regional variability among nonlinear chlorophyll-phosphorus relationships in lakes

    Science.gov (United States)

    Filstrup, Christopher T.; Wagner, Tyler; Soranno, Patricia A.; Stanley, Emily H.; Stow, Craig A.; Webster, Katherine E.; Downing, John A.

    2014-01-01

    The relationship between chlorophyll a (Chl a) and total phosphorus (TP) is a fundamental relationship in lakes that reflects multiple aspects of ecosystem function and is also used in the regulation and management of inland waters. The exact form of this relationship has substantial implications on its meaning and its use. We assembled a spatially extensive data set to examine whether nonlinear models are a better fit for Chl a—TP relationships than traditional log-linear models, whether there were regional differences in the form of the relationships, and, if so, which regional factors were related to these differences. We analyzed a data set from 2105 temperate lakes across 35 ecoregions by fitting and comparing two different nonlinear models and one log-linear model. The two nonlinear models fit the data better than the log-linear model. In addition, the parameters for the best-fitting model varied among regions: the maximum and lower Chl aasymptotes were positively and negatively related to percent regional pasture land use, respectively, and the rate at which chlorophyll increased with TP was negatively related to percent regional wetland cover. Lakes in regions with more pasture fields had higher maximum chlorophyll concentrations at high TP concentrations but lower minimum chlorophyll concentrations at low TP concentrations. Lakes in regions with less wetland cover showed a steeper Chl a—TP relationship than wetland-rich regions. Interpretation of Chl a—TP relationships depends on regional differences, and theory and management based on a monolithic relationship may be inaccurate.

  12. Identification of protein features encoded by alternative exons using Exon Ontology.

    Science.gov (United States)

    Tranchevent, Léon-Charles; Aubé, Fabien; Dulaurier, Louis; Benoit-Pilven, Clara; Rey, Amandine; Poret, Arnaud; Chautard, Emilie; Mortada, Hussein; Desmet, François-Olivier; Chakrama, Fatima Zahra; Moreno-Garcia, Maira Alejandra; Goillot, Evelyne; Janczarski, Stéphane; Mortreux, Franck; Bourgeois, Cyril F; Auboeuf, Didier

    2017-06-01

    Transcriptomic genome-wide analyses demonstrate massive variation of alternative splicing in many physiological and pathological situations. One major challenge is now to establish the biological contribution of alternative splicing variation in physiological- or pathological-associated cellular phenotypes. Toward this end, we developed a computational approach, named "Exon Ontology," based on terms corresponding to well-characterized protein features organized in an ontology tree. Exon Ontology is conceptually similar to Gene Ontology-based approaches but focuses on exon-encoded protein features instead of gene level functional annotations. Exon Ontology describes the protein features encoded by a selected list of exons and looks for potential Exon Ontology term enrichment. By applying this strategy to exons that are differentially spliced between epithelial and mesenchymal cells and after extensive experimental validation, we demonstrate that Exon Ontology provides support to discover specific protein features regulated by alternative splicing. We also show that Exon Ontology helps to unravel biological processes that depend on suites of coregulated alternative exons, as we uncovered a role of epithelial cell-enriched splicing factors in the AKT signaling pathway and of mesenchymal cell-enriched splicing factors in driving splicing events impacting on autophagy. Freely available on the web, Exon Ontology is the first computational resource that allows getting a quick insight into the protein features encoded by alternative exons and investigating whether coregulated exons contain the same biological information. © 2017 Tranchevent et al.; Published by Cold Spring Harbor Laboratory Press.

  13. The spread amongst ENSEMBLES regional scenarios: regional climate models, driving general circulation models and interannual variability

    Energy Technology Data Exchange (ETDEWEB)

    Deque, M.; Somot, S. [Meteo-France, Centre National de Recherches Meteorologiques, CNRS/GAME, Toulouse Cedex 01 (France); Sanchez-Gomez, E. [Cerfacs/CNRS, SUC URA1875, Toulouse Cedex 01 (France); Goodess, C.M. [University of East Anglia, Climatic Research Unit, Norwich (United Kingdom); Jacob, D. [Max Planck Institute for Meteorology, Hamburg (Germany); Lenderink, G. [KNMI, Postbus 201, De Bilt (Netherlands); Christensen, O.B. [Danish Meteorological Institute, Copenhagen Oe (Denmark)

    2012-03-15

    Various combinations of thirteen regional climate models (RCM) and six general circulation models (GCM) were used in FP6-ENSEMBLES. The response to the SRES-A1B greenhouse gas concentration scenario over Europe, calculated as the difference between the 2021-2050 and the 1961-1990 means can be viewed as an expected value about which various uncertainties exist. Uncertainties are measured here by variance explained for temperature and precipitation changes over eight European sub-areas. Three sources of uncertainty can be evaluated from the ENSEMBLES database. Sampling uncertainty is due to the fact that the model climate is estimated as an average over a finite number of years (30) despite a non-negligible interannual variability. Regional model uncertainty is due to the fact that the RCMs use different techniques to discretize the equations and to represent sub-grid effects. Global model uncertainty is due to the fact that the RCMs have been driven by different GCMs. Two methods are presented to fill the many empty cells of the ENSEMBLES RCM x GCM matrix. The first one is based on the same approach as in FP5-PRUDENCE. The second one uses the concept of weather regimes to attempt to separate the contribution of the GCM and the RCM. The variance of the climate response is analyzed with respect to the contribution of the GCM and the RCM. The two filling methods agree that the main contributor to the spread is the choice of the GCM, except for summer precipitation where the choice of the RCM dominates the uncertainty. Of course the implication of the GCM to the spread varies with the region, being maximum in the South-western part of Europe, whereas the continental parts are more sensitive to the choice of the RCM. The third cause of spread is systematically the interannual variability. The total uncertainty about temperature is not large enough to mask the 2021-2050 response which shows a similar pattern to the one obtained for 2071-2100 in PRUDENCE. The uncertainty

  14. N-linked glycosylation of the immunoglobulin variable region

    NARCIS (Netherlands)

    van de Bovenkamp, Fleur S.; Derksen, Ninotska I. L.; Ooijevaar-de Heer, Pleuni; van Schie, Karin A.; Kruithof, Simone; Berkowska, Magdalena A.; van der Schoot, C. Ellen; Ijspeert, Hanna; van der Burg, Mirjam; Gils, Ann; Hafkenscheid, Lise; Toes, René E. M.; Rombouts, Yoann; Plomp, Rosina; Wuhrer, Manfred; van Ham, S. Marieke; Vidarsson, Gestur; Rispens, Theo

    2018-01-01

    N-glycosylation sites are introduced at positions in which glycans can affect antigen binding as a result of a specific clustering of progenitor glycosylation sites in the germline sequences of variable domain genes. By analyzing multiple human monoclonal and polyclonal (auto)antibody responses, we

  15. The Tokar Gap Jet: Regional Circulation, Diurnal Variability, and Moisture Transport Based on Numerical Simulations

    KAUST Repository

    Davis, Shannon R.; Pratt, Lawrence J.; Jiang, Houshuo

    2015-01-01

    The structure, variability, and regional connectivity of the Tokar Gap jet (TGJ) are described using WRF Model analyses and supporting atmospheric datasets from the East African–Red Sea–Arabian Peninsula (EARSAP) region during summer 2008. Sources

  16. Maps of mesoscale wind variability over the North Sea region

    DEFF Research Database (Denmark)

    Vincent, Claire Louise; Hahmann, Andrea N.; Badger, Jake

    Mesoscale wind fluctuations affect the operation of wind farms, particularly as the number of geographically concentrated wind farms in the North Sea increases (Akhmatov et al. 2007). The frequency and intensity of wind fluctuations could be considered as a new siting criterion, together with exi...... for a 1 year period. The model was run with a horizontal grid spacing of 2 km. The variability maps are created by integrating the average 24 hour spectra at every grid point over different time-scales....

  17. Variability or conservation of hepatitis C virus hypervariable region 1 ...

    Indian Academy of Sciences (India)

    Unknown

    in an agammaglobulinemic patient; Gastroenterology 10. 1072–1075. Lesniewsky R R, Boardway K M, Casey J M, Desai S M,. Devare S G and Leung T K 1993 Hypervariable region 5′- terminus of hepatitis C virus E2/NS1 encodes antigenically distinct variants; J. Med. Virol. 40 150–156. Li C, Candotti D and Allain J-P ...

  18. Variability or conservation of hepatitis C virus hypervariable region 1?

    Indian Academy of Sciences (India)

    The hypervariable region 1 (HVR1) of the E2 protein of hepatitis C virus (HCV) is highly heterogeneous in its primary sequence and is responsible for significant inter- and intra-individual variation of the infecting virus, which may represent an important pathogenetic mechanism leading to immune escape and persistent ...

  19. Regional frameworks applied to hydrology: can landscape-based frameworks capture the hydrologic variability?

    Science.gov (United States)

    R. McManamay; D. Orth; C. Dolloff; E. Frimpong

    2011-01-01

    Regional frameworks have been used extensively in recent years to aid in broad-scale management. Widely used landscape-based regional frameworks, such as hydrologic landscape regions (HLRs) and physiographic provinces, may provide predictive tools of hydrologic variability. However, hydrologic-based regional frameworks, created using only streamflow data, are also...

  20. Independent variable complexity for regional regression of the flow duration curve in ungauged basins

    Science.gov (United States)

    Fouad, Geoffrey; Skupin, André; Hope, Allen

    2016-04-01

    The flow duration curve (FDC) is one of the most widely used tools to quantify streamflow. Its percentile flows are often required for water resource applications, but these values must be predicted for ungauged basins with insufficient or no streamflow data. Regional regression is a commonly used approach for predicting percentile flows that involves identifying hydrologic regions and calibrating regression models to each region. The independent variables used to describe the physiographic and climatic setting of the basins are a critical component of regional regression, yet few studies have investigated their effect on resulting predictions. In this study, the complexity of the independent variables needed for regional regression is investigated. Different levels of variable complexity are applied for a regional regression consisting of 918 basins in the US. Both the hydrologic regions and regression models are determined according to the different sets of variables, and the accuracy of resulting predictions is assessed. The different sets of variables include (1) a simple set of three variables strongly tied to the FDC (mean annual precipitation, potential evapotranspiration, and baseflow index), (2) a traditional set of variables describing the average physiographic and climatic conditions of the basins, and (3) a more complex set of variables extending the traditional variables to include statistics describing the distribution of physiographic data and temporal components of climatic data. The latter set of variables is not typically used in regional regression, and is evaluated for its potential to predict percentile flows. The simplest set of only three variables performed similarly to the other more complex sets of variables. Traditional variables used to describe climate, topography, and soil offered little more to the predictions, and the experimental set of variables describing the distribution of basin data in more detail did not improve predictions

  1. Intraregional and inter-regional variability of herbicide sensitivity in common arable weed populations

    DEFF Research Database (Denmark)

    de Mol, Friederike; Gerowitt, Bärbel; Kaczmarek, Sylwia

    2015-01-01

    The question on intraregional versus inter-regional variability in herbicide sensitivity for weed populations is of major importance, both in extrapolation of model parameters and in herbicide zonal approval procedures. We hypothesised that inter-regional variability in herbicide sensitivity for ...

  2. ExonMiner: Web service for analysis of GeneChip Exon array data

    Directory of Open Access Journals (Sweden)

    Imoto Seiya

    2008-11-01

    Full Text Available Abstract Background Some splicing isoform-specific transcriptional regulations are related to disease. Therefore, detection of disease specific splice variations is the first step for finding disease specific transcriptional regulations. Affymetrix Human Exon 1.0 ST Array can measure exon-level expression profiles that are suitable to find differentially expressed exons in genome-wide scale. However, exon array produces massive datasets that are more than we can handle and analyze on personal computer. Results We have developed ExonMiner that is the first all-in-one web service for analysis of exon array data to detect transcripts that have significantly different splicing patterns in two cells, e.g. normal and cancer cells. ExonMiner can perform the following analyses: (1 data normalization, (2 statistical analysis based on two-way ANOVA, (3 finding transcripts with significantly different splice patterns, (4 efficient visualization based on heatmaps and barplots, and (5 meta-analysis to detect exon level biomarkers. We implemented ExonMiner on a supercomputer system in order to perform genome-wide analysis for more than 300,000 transcripts in exon array data, which has the potential to reveal the aberrant splice variations in cancer cells as exon level biomarkers. Conclusion ExonMiner is well suited for analysis of exon array data and does not require any installation of software except for internet browsers. What all users need to do is to access the ExonMiner URL http://ae.hgc.jp/exonminer. Users can analyze full dataset of exon array data within hours by high-level statistical analysis with sound theoretical basis that finds aberrant splice variants as biomarkers.

  3. Multiannual runoff variability in the upper Danube region

    International Nuclear Information System (INIS)

    Pekarova, P.

    2009-05-01

    The development of mankind has depended on availability of water resources. Already the first agricultural civilizations noticed the temporal variability of water resources and oscillation of the multi-annual dry and wet periods. The presented thesis summarizes results of more than fifteen years research activities of the author in the field of long-term runoff prediction. Statistical analysis of the runoff oscillations depends on availability of long time series of data. Systematic measurements of discharge in modern era started relatively late. The longest time series are available in Europe, but they do not exceed 200 years. Such long series are exceptional and in most parts of the world only much shorter series exist. Since studies dealing with the natural runoff oscillation and NAO phenomenon recently absent in Slovakia, there is the one aim of the thesis to fill in the gap in the long-term runoff fluctuation analysis and long-term discharge prediction methods development. The thesis focuses on the natural runoff cyclicity identification. In stochastic models, the climate changes scenarios caused by atmosphere warming are not involved however the runoff tele-connection around the Earth is studied. Scientific objectives of the thesis: 1. To reconstruct the Danube daily discharge series at Bratislava (1876-1890) based upon the Bratislava gauge daily water level observations; 2. to analyze variability and long term trends of the selected discharge Danube series characteristics for its Bratislava gauge; 3. to propose and develop the combined periodogram method for more exact spectral density identification in discharge time series; to analyze trends and periodicity in discharge long term series; to identify occurrence of the wet and dry periods over the world, to identify the influence of the NAO/AO/ENSO/QBO phenomena and the Sun activity on the runoff variability. 4. to present some long term stochastic prediction methods; to use two of them, the classical

  4. The human cytochrome P450 3A locus. Gene evolution by capture of downstream exons.

    Science.gov (United States)

    Finta, C; Zaphiropoulos, P G

    2000-12-30

    Using a bacterial artificial chromosome (BAC) clone, we have mapped the human cytochrome P450 3A (CYP3A) locus containing the genes encoding for CYP3A4, CYP3A5 and CYP3A7. The genes lie in a head-to-tail orientation in the order of 3A4, 3A7 and 3A5. In both intergenic regions (3A4-3A7 and 3A7-3A5), we have detected several additional cytochrome P450 3A exons, forming two CYP3A pseudogenes. These pseudogenes have the same orientation as the CYP3A genes. To our surprise, a 3A7 mRNA species has been detected in which the exons 2 and 13 of one of the pseudogenes (the one that is downstream of 3A7) are spliced after the 3A7 terminal exon. This results in an mRNA molecule that consists of the 13 3A7 exons and two additional exons at the 3' end. The additional two exons originating from the pseudogene are in an altered reading frame and consequently have the capability to code a completely different amino acid sequence than the canonical CYP3A exons 2 and 13. These findings may represent a generalized evolutionary process with genes having the potential to capture neighboring sequences and use them as functional exons.

  5. Winter climate variability and classification in the Bulgarian Mountainous Regions

    International Nuclear Information System (INIS)

    Petkova, Nadezhda; Koleva, Ekaterina

    2004-01-01

    The problems of snowiness and thermal conditions of winters are of high interest of investigations because of the more frequent droughts, occurred in the region. In the present study an attempt to reveal tendencies existing during the last 70 years of 20 th century in the course winter precipitation and,temperature as well as in some of the snow cover parameters. On the base of mean winter air temperature winters in the Bulgarian mountains were analyzed and classified. The main results of the study show that winter precipitation has decrease tendencies more significant in the highest parts of the mountains. On the other hand winter air temperature increases. It shows a relatively well-established maximum at the end of the studied period. In the Bulgarian mountains normal winters are about 35-40% of all winters. (Author)

  6. Climate Change and Climate Variability in the Latin American Region

    Science.gov (United States)

    Magrin, G. O.; Gay Garcia, C.; Cruz Choque, D.; Gimenez-Sal, J. C.; Moreno, A. R.; Nagy, G. J.; Nobre, C.; Villamizar, A.

    2007-05-01

    Over the past three decades LA was subjected to several climate-related impacts due to increased El Niño occurrences. Two extremely intense episodes of El Niño and other increased climate extremes happened during this period contributing greatly to augment the vulnerability of human systems to natural disasters. In addition to weather and climate, the main drivers of the increased vulnerability are demographic pressure, unregulated urban growth, poverty and rural migration, low investment in infrastructure and services, and problems in inter-sector coordination. As well, increases in temperature and increases/decreases in precipitation observed during the last part of 20th century have yet led to intensification of glaciers melting, increases in floods/droughts and forest fires frequency, increases in morbidity and mortality, increases in plant diseases incidence; lost of biodiversity, reduction in dairy cattle production, and problems with hydropower generation, highly affecting LA human system. For the end of the 21st century, the projected mean warming for LA ranges from 1 to 7.5ºC and the frequency of weather and climate extremes could increase. Additionally, deforestation is projected to continue leading to a reduction of 25 percent in Amazonia forest in 2020 and 40 percent in 2050. Soybeans planted area in South America could increase by 55 percent by 2020 enhancing aridity/desertification in many of the already water- stressed regions. By 2050 LA population is likely to be 50 percent larger than in 2000, and migration from the country sides to the cities will continue. In the near future, these predicted changes are very likely to severely affect a number of ecosystems and sectors distribution; b) Disappearing most tropical glaciers; c) Reducing water availability and hydropower generation; d) Increasing desertification and aridity; e) Severely affecting people, resources and economic activities in coastal areas; f) Increasing crop's pests and diseases

  7. Targeted Exon Skipping to Correct Exon Duplications in the Dystrophin Gene

    Directory of Open Access Journals (Sweden)

    Kane L Greer

    2014-01-01

    Full Text Available Duchenne muscular dystrophy is a severe muscle-wasting disease caused by mutations in the dystrophin gene that ablate functional protein expression. Although exonic deletions are the most common Duchenne muscular dystrophy lesion, duplications account for 10–15% of reported disease-causing mutations, and exon 2 is the most commonly duplicated exon. Here, we describe the in vitro evaluation of phosphorodiamidate morpholino oligomers coupled to a cell-penetrating peptide and 2′-O-methyl phosphorothioate oligonucleotides, using three distinct strategies to reframe the dystrophin transcript in patient cells carrying an exon 2 duplication. Differences in exon-skipping efficiencies in vitro were observed between oligomer analogues of the same sequence, with the phosphorodiamidate morpholino oligomer coupled to a cell-penetrating peptide proving the most effective. Differences in exon 2 excision efficiency between normal and exon 2 duplication cells, were apparent, indicating that exon context influences oligomer-induced splice switching. Skipping of a single copy of exon 2 was induced in the cells carrying an exon 2 duplication, the simplest strategy to restore the reading frame and generate a normal dystrophin transcript. In contrast, multiexon skipping of exons 2–7 to generate a Becker muscular dystrophy-like dystrophin transcript was more challenging and could only be induced efficiently with the phosphorodiamidate morpholino oligomer chemistry.

  8. The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene.

    Science.gov (United States)

    Vaughn, Cecily P; Baker, Christine L; Samowitz, Wade S; Swensen, Jeffrey J

    2013-01-01

    Lynch syndrome is characterized by mutations in one of four mismatch repair genes, MLH1, MSH2, MSH6, or PMS2. Clinical mutation analysis of these genes includes sequencing of exonic regions and deletion/duplication analysis. However, detection of deletions and duplications in PMS2 has previously been confined to Exons 1-11 due to gene conversion between PMS2 and the pseudogene PMS2CL in the remaining 3' exons (Exons 12-15). We have recently described an MLPA-based method that permits detection of deletions of PMS2 Exons 12-15; however, the frequency of such deletions has not yet been determined. To address this question, we tested for 3' deletions in 58 samples that were reported to be negative for PMS2 mutations using previously available methods. All samples were from individuals whose tumors exhibited loss of PMS2 immunohistochemical staining without concomitant loss of MLH1 immunostaining. We identified seven samples in this cohort with deletions in the 3' region of PMS2, including three previously reported samples with deletions of Exons 13-15 (two samples) and Exons 14-15. Also detected were deletions of Exons 12-15, Exon 13, and Exon 14 (two samples). Breakpoint analysis of the intragenic deletions suggests they occurred through Alu-mediated recombination. Our results indicate that ∼12% of samples suspected of harboring a PMS2 mutation based on immunohistochemical staining, for which mutations have not yet been identified, would benefit from testing using the new methodology. Copyright © 2012 Wiley Periodicals, Inc.

  9. Variability in regional background aerosols within the Mediterranean

    Science.gov (United States)

    Querol, X.; Alastuey, A.; Pey, J.; Cusack, M.; Pérez, N.; Mihalopoulos, N.; Theodosi, C.; Gerasopoulos, E.; Kubilay, N.; Koçak, M.

    2009-07-01

    The main objective of this study is the identification of major factors controlling levels and chemical composition of aerosols in the regional background (RB) along the Mediterranean Basin (MB). To this end, data on PM levels and speciation from Montseny (MSY, NE Spain), Finokalia (FKL, Southern Greece) and Erdemli (ERL, Southern Turkey) for the period 2001 to 2008 are evaluated. Important differences on PM levels and composition are evident when comparing the Western and Eastern MBs. The results manifest W-E and N-S PM10 and PM2.5 gradients along the MB, attributed to the higher frequency and intensity of African dust outbreaks in the EMB, while for PM1 very similar levels are encountered. PM in the EMB is characterized by higher levels of crustal material and sulphate as compared to WMB (and central European sites), however, RB nitrate and OC + EC levels are relatively constant across the Mediterranean and lower than other European sites. Marked seasonal trends are evidenced for PM levels, nitrate (WMB), ammonium and sulphate. Also relatively higher levels of V and Ni (WMB) are measured in the Mediterranean basin, probably as a consequence of high emissions from fuel-oil combustion (power generation, industrial and shipping emissions). Enhanced sulphate levels in EMB compared to WMB were measured. The high levels of sulphate in the EMB may deplete the available gas-phase NH3 so that little ammonium nitrate can form due to the low NH3 levels. This study illustrates the existence of three very important features within the Mediterranean that need to be accounted for when modeling climate effects of aerosols in the area, namely: a) the increasing gradient of dust from WMB to EMB; b) the change of hygroscopic behavior of mineral aerosols (dust) via nitration and sulfation; and c) the abundance of highly hygroscopic aerosols during high insolation (low cloud formation) periods.

  10. Multiannual runoff variability in the upper Danube region

    International Nuclear Information System (INIS)

    Pekarova, P.

    2009-05-01

    The main results and new knowledge of the presented Thesis can be summarized as follows: - The daily mean discharge time series of the river Danube at Bratislava has been supplemented with data from years 1876-1890. So it has been extended into the full-uninterrupted daily data series for the length of 130 years. Such series of the daily mean discharges is suitable for statistical analyses of the hydrological characteristics changes, and also for identification of the multi-annual (up to 30- years) cycles. - Using the combined periodogram method and the series filtration, in the discharge time series, the variegation cycles of dry and wet time periods were searched. For such objective, the time series were used, of more than 100 rivers of the world. From the longer cycles in the series the approximately 28-30 and 20-22 yrs. cycles of the dry and wet periods occurrence were identified. However, the cycle lengths is not exactly 28 and 21 years, but in the long term average, they come close to these values. From the shorter cycles, those with 7.8-, 6.5-, 5.2-; 4.14-, 3.65, and 2.4- years were identified. - These periods were documented for the discharge series of the analyzed rivers in various physiographic latitudes of the world. It is then possible to consider this piece of knowledge as generally valid for the whole Earth. These periods are connected with the Solar activity and with the thermohaline circulation (ocean conveyor belt). Their parts are also the El Nino, AO, NAO, and QBO phenomena. - Through the cross-correlations (two variables), time shift of the dry and wet periods was identified depending upon the geographical longitude and latitude of the river basins location. From these results it follows, that the dry and wet periods do not occur at the same time on various locations. This time shift depends upon the basins location, and it follows upon the shift in the precipitations occurrence. - The trend analysis did not indicate any significant trends in

  11. Climate change/variability science and adaptive strategies for state and regional transportation decision making.

    Science.gov (United States)

    2010-04-01

    The objective of this study was to generate a baseline understanding of current policy responses to climate : change/variability at the state and regional transportation-planning and -decision levels. Specifically, : researchers were interested in th...

  12. Changes of extreme precipitation and nonlinear influence of climate variables over monsoon region in China

    KAUST Repository

    Gao, Tao; Wang, Huixia Judy; Zhou, Tianjun

    2017-01-01

    of precipitation extremes over monsoon regions in China (MRC). However, research on monsoon extremes in China and their associations with climate variables is limited. In this study, we examine the space-time variations of extreme precipitation across the MRC

  13. Strong influence of variable treatment on the performance of numerically defined ecological regions.

    Science.gov (United States)

    Snelder, Ton; Lehmann, Anthony; Lamouroux, Nicolas; Leathwick, John; Allenbach, Karin

    2009-10-01

    Numerical clustering has frequently been used to define hierarchically organized ecological regionalizations, but there has been little robust evaluation of their performance (i.e., the degree to which regions discriminate areas with similar ecological character). In this study we investigated the effect of the weighting and treatment of input variables on the performance of regionalizations defined by agglomerative clustering across a range of hierarchical levels. For this purpose, we developed three ecological regionalizations of Switzerland of increasing complexity using agglomerative clustering. Environmental data for our analysis were drawn from a 400 m grid and consisted of estimates of 11 environmental variables for each grid cell describing climate, topography and lithology. Regionalization 1 was defined from the environmental variables which were given equal weights. We used the same variables in Regionalization 2 but weighted and transformed them on the basis of a dissimilarity model that was fitted to land cover composition data derived for a random sample of cells from interpretation of aerial photographs. Regionalization 3 was a further two-stage development of Regionalization 2 where specific classifications, also weighted and transformed using dissimilarity models, were applied to 25 small scale "sub-domains" defined by Regionalization 2. Performance was assessed in terms of the discrimination of land cover composition for an independent set of sites using classification strength (CS), which measured the similarity of land cover composition within classes and the dissimilarity between classes. Regionalization 2 performed significantly better than Regionalization 1, but the largest gains in performance, compared to Regionalization 1, occurred at coarse hierarchical levels (i.e., CS did not increase significantly beyond the 25-region level). Regionalization 3 performed better than Regionalization 2 beyond the 25-region level and CS values continued to

  14. Morphometric variability of Arctodiaptomus salinus (Copepoda) in the Mediterranean-Black Sea region

    OpenAIRE

    ANUFRIIEVA, Elena V.; SHADRIN, Nickolai V.

    2015-01-01

    Inter-species variability in morphological traits creates a need to know the range of variability of characteristics in the species for taxonomic and ecological tasks. Copepoda Arctodiaptomus salinus, which inhabits water bodies across Eurasia and North Africa, plays a dominant role in plankton of different water bodies-from fresh to hypersaline. This work assesses the intra- and inter-population morphometric variability of A. salinus in the Mediterranean-Black Sea region and discusses some o...

  15. Interannual variability in the extent of wetland-stream connectivity within the Prairie Pothole Region

    Science.gov (United States)

    Melanie Vanderhoof; Laurie Alexander

    2016-01-01

    The degree of hydrological connectivity between wetland systems and downstream receiving waters can be expected to influence the volume and variability of stream discharge. The Prairie Pothole Region contains a high density of depressional wetland features, a consequence of glacial retreat. Spatial variability in wetland density, drainage evolution, and precipitation...

  16. Development of a localized probabilistic sensitivity method to determine random variable regional importance

    International Nuclear Information System (INIS)

    Millwater, Harry; Singh, Gulshan; Cortina, Miguel

    2012-01-01

    There are many methods to identify the important variable out of a set of random variables, i.e., “inter-variable” importance; however, to date there are no comparable methods to identify the “region” of importance within a random variable, i.e., “intra-variable” importance. Knowledge of the critical region of an input random variable (tail, near-tail, and central region) can provide valuable information towards characterizing, understanding, and improving a model through additional modeling or testing. As a result, an intra-variable probabilistic sensitivity method was developed and demonstrated for independent random variables that computes the partial derivative of a probabilistic response with respect to a localized perturbation in the CDF values of each random variable. These sensitivities are then normalized in absolute value with respect to the largest sensitivity within a distribution to indicate the region of importance. The methodology is implemented using the Score Function kernel-based method such that existing samples can be used to compute sensitivities for negligible cost. Numerical examples demonstrate the accuracy of the method through comparisons with finite difference and numerical integration quadrature estimates. - Highlights: ► Probabilistic sensitivity methodology. ► Determines the “region” of importance within random variables such as left tail, near tail, center, right tail, etc. ► Uses the Score Function approach to reuse the samples, hence, negligible cost. ► No restrictions on the random variable types or limit states.

  17. DNA amplification of a further exon of Duchenne muscular dystrophy locus increase possibilities for deletion screening

    Energy Technology Data Exchange (ETDEWEB)

    Speer, A.; Rosenthal, A.; Billwitz, H.; Hanke, R.; Forrest, S.M; Love, D.; Davies, K.E.; Coutelle, C. (John Radcliffe Hospital, Oxford (England))

    1989-06-26

    The data of Chamberlain et al allow the detection of 76% of deletions in the region Cf56A/Cf23a identified by hybridization in their patients. The authors have generated two oligonucleotides allowing the amplification of a further exon which is included in the 3.4 kb hybridization of fragment of Cf56a. This exon is deleted in about 10% of their patients.

  18. Capturing subregional variability in regional-scale climate change vulnerability assessments of natural resources

    Science.gov (United States)

    Polly C. Buotte; David L. Peterson; Kevin S. McKelvey; Jeffrey A. Hicke

    2016-01-01

    Natural resource vulnerability to climate change can depend on the climatology and ecological conditions at a particular site. Here we present a conceptual framework for incorporating spatial variability in natural resource vulnerability to climate change in a regional-scale assessment. The framework was implemented in the first regional-scale vulnerability...

  19. Linking the uncertainty of low frequency variability in tropical forcing in regional climate change

    Energy Technology Data Exchange (ETDEWEB)

    Forest, Chris E. [Pennsylvania State Univ., University Park, PA (United States). Dept. of Meteorology; Barsugli, Joseph J. [Univ. of Colorado, Boulder, CO (United States). CIRES; Li, Wei [Pennsylvania State Univ., University Park, PA (United States). Dept. of Meteorology

    2015-02-20

    The project utilizes multiple atmospheric general circulation models (AGCMs) to examine the regional climate sensitivity to tropical sea surface temperature forcing through a series of ensemble experiments. The overall goal for this work is to use the global teleconnection operator (GTO) as a metric to assess the impact of model structural differences on the uncertainties in regional climate variability.

  20. Airborne black carbon concentrations over an urban region in western India-temporal variability, effects of meteorology, and source regions.

    Science.gov (United States)

    Bapna, Mukund; Sunder Raman, Ramya; Ramachandran, S; Rajesh, T A

    2013-03-01

    This study characterizes over 5 years of high time resolution (5 min), airborne black carbon (BC) concentrations (July 2003 to December 2008) measured over Ahmedabad, an urban region in western India. The data were used to obtain different time averages of BC concentrations, and these averages were then used to assess the diurnal, seasonal, and annual variability of BC over the study region. Assessment of diurnal variations revealed a strong association between BC concentrations and vehicular traffic. Peaks in BC concentration were co-incident with the morning (0730 to 0830, LST) and late evening (1930 to 2030, LST) rush hour traffic. Additionally, diurnal variability in BC concentrations during major festivals (Diwali and Dushera during the months of October/November) revealed an increase in BC concentrations due to fireworks displays. Maximum half hourly BC concentrations during the festival days were as high as 79.8 μg m(-3). However, the high concentrations rapidly decayed suggesting that local meteorology during the festive season was favorable for aerosol dispersion. A multiple linear regression (MLR) model with BC as the dependent variable and meteorological parameters as independent variables was fitted. The variability in temperature, humidity, wind speed, and wind direction accounted for about 49% of the variability in measured BC concentrations. Conditional probability function (CPF) analysis was used to identify the geographical location of local source regions contributing to the effective BC measured (at 880 nm) at the receptor site. The east north-east (ENE) direction to the receptor was identified as a major source region. National highway (NH8) and two coal-fired thermal power stations (at Gandhinagar and Sabarmati) were located in the identified direction, suggesting that local traffic and power plant emissions were likely contributors to the measured BC.

  1. Rainfall variability, climate change and regionalization in the African monsoon region

    International Nuclear Information System (INIS)

    Fontaine, Bernard; Roucou, Pascal; Vigaud, Nicolas; Camara, Moctar; Konare, Abdourahamane; Sanda, Seidou Ibrah; Diedhiou, Arona; Janicot, Serge

    2012-01-01

    This summary recalls some results at the end of the AMMA international experiment (2003-2010) in terms of variability of the African monsoon at the intra-seasonal to multi-decadal scales and of climate prospective. The results confirmed the weight of surface temperatures and marine tele-connections for inter-annual and decadal fluctuations and stressed the importance of atmospheric variability. They also described the dominant modes of intra-seasonal variability as their interactions with the surface. Several hypotheses involving memory effects related to soil water and vegetation, particularly in boreal spring and autumn have also been made. Prospective analysis from model output suggests rainfall surplus around 2050 over the Eastern-central Sahel and relative deficit to the West. Phase 2 of AMMA (2010-2020) will focus more on aspects that have a high social impact in direct collaboration with meteorological services predictability, prediction scores, operational indicators, evaluation of the part of anthropogenic forcing in the current and future variations. (authors)

  2. Modulation of splicing of the preceding intron by antisense oligonucleotide complementary to intra-exon sequence deleted in dystrophin Kobe

    Energy Technology Data Exchange (ETDEWEB)

    Takeshima, Y.; Matuso, M.; Sakamoto, H.; Nishio, H. [Kobe Univ. School of Medicine and Science (Japan)

    1994-09-01

    Molecular analysis of dystrophin Kobe showed that exon 19 of the dystrophin gene bearing a 52 bp deletion was skipped during splicing, although the known consensus sequences at the 5{prime} and 3{prime} splice site of exon 19 were maintained. These data suggest that the deleted sequence of exon 19 may function as a cis-acting factor for exact splicing for the upstream intron. To investigate this potential role, an in vitro splicing system using dystrophin precursors was established. A two-exon precursor containing exon 18, truncated intron 18, and exon 19 was accurately spliced. However, splicing of intron 18 was dramatically inhibited when wild exon 19 was replaced with mutated exon 19. Even though the length of exon 19 was restored to normal by replacing the deleted sequence with other sequence, splicing of intron 18 was not fully reactivated. Characteristically, splicing of intron 18 was inactivated more markedly when the replaced sequence contained less polypurine stretches. These data suggested that modification of the exon sequence would result in a splicing abnormality. Antisense 31 mer 2`-O-methyl ribonucleotide was targeted against 5{prime} end of deleted region of exon 19 to modulate splicing of the mRNA precursor. Splicing of intron 18 was inhibited in a dose- and time-dependent manner. This is the first in vitro evidence to show splicing of dystrophin pre-mRNA can be managed by antisense oligonucleotides. These experiments represent an approach in which antisense oligonucleotides are used to restore the function of a defective dystrophin gene in Duchenne muscular dystrophy by inducing skipping of certain exons during splicing.

  3. Improving preparedness of farmers to Climate Variability: A case study of Vidarbha region of Maharashtra, India

    Science.gov (United States)

    Swami, D.; Parthasarathy, D.; Dave, P.

    2016-12-01

    A key objective of the ongoing research is to understand the risk and vulnerability of agriculture and farming communities with respect to multiple climate change attributes, particularly monsoon variability and hydrology such as ground water availability. Climate Variability has always been a feature affecting Indian agriculture but the nature and characteristics of this variability is not well understood. Indian monsoon patterns are highly variable and most of the studies focus on larger domain such as Central India or Western coast (Ghosh et al., 2009) but district level analysis is missing i.e. the linkage between agriculture and climate variables at finer scale has not been investigated comprehensively. For example, Eastern Vidarbha region in Maharashtra is considered as one of the most agriculturally sensitive region in India, where every year a large number of farmers commit suicide. The main reasons for large number of suicides are climate related stressors such as droughts, hail storms, and monsoon variability aggravated with poor socio-economic conditions. Present study has tried to explore the areas in Vidarbha region of Maharashtra where famers and crop productivity, specifically cotton, sorghum, is highly vulnerable to monsoon variability, hydrological and socio-economic variables which are further modelled to determine the maximal contributing factor towards crops and farmers' vulnerability. After analysis using primary and secondary data, it will aid in decision making regarding field operations such as time of sowing, harvesting and irrigation requirements by optimizing the cropping pattern with climatic, hydrological and socio-economic variables. It also suggests the adaptation strategies to farmers regarding different types of cropping and water harvesting practices, optimized dates and timings for harvesting, sowing, water and nutrient requirements of particular crops according to the specific region. Primarily along with secondary analysis

  4. Moment-to-Moment BOLD Signal Variability Reflects Regional Changes in Neural Flexibility across the Lifespan.

    Science.gov (United States)

    Nomi, Jason S; Bolt, Taylor S; Ezie, C E Chiemeka; Uddin, Lucina Q; Heller, Aaron S

    2017-05-31

    Variability of neuronal responses is thought to underlie flexible and optimal brain function. Because previous work investigating BOLD signal variability has been conducted within task-based fMRI contexts on adults and older individuals, very little is currently known regarding regional changes in spontaneous BOLD signal variability in the human brain across the lifespan. The current study used resting-state fMRI data from a large sample of male and female human participants covering a wide age range (6-85 years) across two different fMRI acquisition parameters (TR = 0.645 and 1.4 s). Variability in brain regions including a key node of the salience network (anterior insula) increased linearly across the lifespan across datasets. In contrast, variability in most other large-scale networks decreased linearly over the lifespan. These results demonstrate unique lifespan trajectories of BOLD variability related to specific regions of the brain and add to a growing literature demonstrating the importance of identifying normative trajectories of functional brain maturation. SIGNIFICANCE STATEMENT Although brain signal variability has traditionally been considered a source of unwanted noise, recent work demonstrates that variability in brain signals during task performance is related to brain maturation in old age as well as individual differences in behavioral performance. The current results demonstrate that intrinsic fluctuations in resting-state variability exhibit unique maturation trajectories in specific brain regions and systems, particularly those supporting salience detection. These results have implications for investigations of brain development and aging, as well as interpretations of brain function underlying behavioral changes across the lifespan. Copyright © 2017 the authors 0270-6474/17/375539-10$15.00/0.

  5. Large exon size does not limit splicing in vivo.

    Science.gov (United States)

    Chen, I T; Chasin, L A

    1994-03-01

    Exon sizes in vertebrate genes are, with a few exceptions, limited to less than 300 bases. It has been proposed that this limitation may derive from the exon definition model of splice site recognition. In this model, a downstream donor site enhances splicing at the upstream acceptor site of the same exon. This enhancement may require contact between factors bound to each end of the exon; an exon size limitation would promote such contact. To test the idea that proximity was required for exon definition, we inserted random DNA fragments from Escherichia coli into a central exon in a three-exon dihydrofolate reductase minigene and tested whether the expanded exons were efficiently spliced. DNA from a plasmid library of expanded minigenes was used to transfect a CHO cell deletion mutant lacking the dhfr locus. PCR analysis of DNA isolated from the pooled stable cotransfectant populations displayed a range of DNA insert sizes from 50 to 1,500 nucleotides. A parallel analysis of the RNA from this population by reverse transcription followed by PCR showed a similar size distribution. Central exons as large as 1,400 bases could be spliced into mRNA. We also tested individual plasmid clones containing exon inserts of defined sizes. The largest exon included in mRNA was 1,200 bases in length, well above the 300-base limit implied by the survey of naturally occurring exons. We conclude that a limitation in exon size is not part of the exon definition mechanism.

  6. A five' splice-region G → C mutation in exon 1 of the human β-globin gene inhibits pre-mRNA splicing: A mechanism for β+-thalassemia

    International Nuclear Information System (INIS)

    Vidaud, M.; Vidaud, D.; Amselem, S.; Rosa, J.; Goossens, M.; Gattoni, R.; Stevenin, J.; Chibani, J.

    1989-01-01

    The authors have characterized a Mediterranean β-thalassemia allele containing a sequence change at codon 30 that alters both β-globin pre-mRNA splicing and the structure of the homoglobin product. Presumably, this G → C transversion at position -1 of intron 1 reduces severely the utilization of the normal 5' splice site since the level of the Arg → Thr mutant hemoglobin (designated hemoglobin Kairouan) found in the erythrocytes of the patient is very low (2% of total hemoglobin). Since no natural mutations of the guanine located at position -1 of the CAG/GTAAGT consensus sequence had been isolated previously. They investigated the role of this nucleotide in the constitution of an active 5' splice site by studying the splicing of the pre-mRNA in cell-free extracts. They demonstrate that correct splicing of the mutant pre-mRNA is 98% inhibited. Their results provide further insights into the mechanisms of pre-mRNA maturation by revealing that the last residue of the exon plays a role at least equivalent to that of the intron residue at position +5

  7. NEAR-INFRARED VARIABILITY AMONG YOUNG STELLAR OBJECTS IN THE STAR FORMATION REGION CYGNUS OB7

    Energy Technology Data Exchange (ETDEWEB)

    Wolk, Scott J.; Rice, Thomas S. [Harvard-Smithsonian Center for Astrophysics, 60 Garden Street, Cambridge, MA 02138 (United States); Aspin, Colin [Institute for Astronomy, University of Hawaii at Manoa, 640 North Aohoku Place, Hilo, HI 96720 (United States)

    2013-08-20

    We present an analysis of near-infrared time-series photometry in J, H, and K bands for about 100 epochs of a 1 Degree-Sign Multiplication-Sign 1 Degree-Sign region of the Lynds 1003/1004 dark cloud in the Cygnus OB7 region. Augmented by data from the Wide-field Infrared Survey Explorer, we identify 96 candidate disk bearing young stellar objects (YSOs) in the region. Of these, 30 are clearly Class I or earlier. Using the Wide-Field Imaging Camera on the United Kingdom Infrared Telescope, we were able to obtain photometry over three observing seasons, with photometric uncertainty better than 0.05 mag down to J Almost-Equal-To 17. We study detailed light curves and color trajectories of {approx}50 of the YSOs in the monitored field. We investigate the variability and periodicity of the YSOs and find the data are consistent with all YSOs being variable in these wavelengths on timescales of a few years. We divide the variability into four observational classes: (1) stars with periodic variability stable over long timescales, (2) variables which exhibit short-lived cyclic behavior, (3) long-duration variables, and (4) stochastic variables. Some YSO variability defies simple classification. We can explain much of the observed variability as being due to dynamic and rotational changes in the disk, including an asymmetric or changing blocking fraction, changes to the inner disk hole size, as well as changes to the accretion rate. Overall, we find that the Class I:Class II ratio of the cluster is consistent with an age of <1 Myr, with at least one individual, wildly varying source {approx}100, 000 yr old. We have also discovered a Class II eclipsing binary system with a period of 17.87 days.

  8. Integrated Variable Speed Limits Control and Ramp Metering for Bottleneck Regions on Freeway

    Directory of Open Access Journals (Sweden)

    Ming-hui Ma

    2015-01-01

    Full Text Available To enhance the efficiency of the existing freeway system and therefore to mitigate traffic congestion and related problems on the freeway mainline lane-drop bottleneck region, the advanced strategy for bottleneck control is essential. This paper proposes a method that integrates variable speed limits and ramp metering for freeway bottleneck region control to relieve the chaos in bottleneck region. To this end, based on the analyses of spatial-temporal patterns of traffic flow, a macroscopic traffic flow model is extended to describe the traffic flow operating characteristic by considering the impacts of variable speed limits in mainstream bottleneck region. In addition, to achieve the goal of balancing the priority of the vehicles on mainline and on-ramp, increasing capacity, and reducing travel delay on bottleneck region, an improved control model, as well as an advanced control strategy that integrates variable speed limits and ramp metering, is developed. The proposed method is tested in simulation for a real freeway infrastructure feed and calibrates real traffic variables. The results demonstrate that the proposed method can substantially improve the traffic flow efficiency of mainline and on-ramp and enhance the quality of traffic flow at the investigated freeway mainline bottleneck.

  9. Regionalizing Africa: Patterns of Precipitation Variability in Observations and Global Climate Models

    Science.gov (United States)

    Badr, Hamada S.; Dezfuli, Amin K.; Zaitchik, Benjamin F.; Peters-Lidard, Christa D.

    2016-01-01

    Many studies have documented dramatic climatic and environmental changes that have affected Africa over different time scales. These studies often raise questions regarding the spatial extent and regional connectivity of changes inferred from observations and proxies and/or derived from climate models. Objective regionalization offers a tool for addressing these questions. To demonstrate this potential, applications of hierarchical climate regionalizations of Africa using observations and GCM historical simulations and future projections are presented. First, Africa is regionalized based on interannual precipitation variability using Climate Hazards Group Infrared Precipitation with Stations (CHIRPS) data for the period 19812014. A number of data processing techniques and clustering algorithms are tested to ensure a robust definition of climate regions. These regionalization results highlight the seasonal and even month-to-month specificity of regional climate associations across the continent, emphasizing the need to consider time of year as well as research question when defining a coherent region for climate analysis. CHIRPS regions are then compared to those of five GCMs for the historic period, with a focus on boreal summer. Results show that some GCMs capture the climatic coherence of the Sahel and associated teleconnections in a manner that is similar to observations, while other models break the Sahel into uncorrelated subregions or produce a Sahel-like region of variability that is spatially displaced from observations. Finally, shifts in climate regions under projected twenty-first-century climate change for different GCMs and emissions pathways are examined. A projected change is found in the coherence of the Sahel, in which the western and eastern Sahel become distinct regions with different teleconnections. This pattern is most pronounced in high-emissions scenarios.

  10. The discrete and localized nature of the variable emission from active regions

    Science.gov (United States)

    Arndt, Martina Belz; Habbal, Shadia Rifai; Karovska, Margarita

    1994-01-01

    Using data from the Extreme Ultraviolet (EUV) Spectroheliometer on Skylab, we study the empirical characteristics of the variable emission in active regions. These simultaneous multi-wavelength observations clearly confirm that active regions consist of a complex of loops at different temperatures. The variable emission from this complex has very well-defined properties that can be quantitatively summarized as follows: (1) It is localized predominantly around the footpoints where it occurs at discrete locations. (2) The strongest variability does not necessarily coincide with the most intense emission. (3) The fraction of the area of the footpoints, (delta n)/N, that exhibits variable emission, varies by +/- 15% as a function of time, at any of the wavelengths measured. It also varies very little from footpoint to footpoint. (4) This fractional variation is temperature dependent with a maximum around 10(exp 5) K. (5) The ratio of the intensity of the variable to the average background emission, (delta I)/(bar-I), also changes with temperature. In addition, we find that these distinctive characteristics persist even when flares occur within the active region.

  11. Antisense PMO found in dystrophic dog model was effective in cells from exon 7-deleted DMD patient.

    Directory of Open Access Journals (Sweden)

    Takashi Saito

    Full Text Available BACKGROUND: Antisense oligonucleotide-induced exon skipping is a promising approach for treatment of Duchenne muscular dystrophy (DMD. We have systemically administered an antisense phosphorodiamidate morpholino oligomer (PMO targeting dystrophin exons 6 and 8 to a dog with canine X-linked muscular dystrophy in Japan (CXMD(J lacking exon 7 and achieved recovery of dystrophin in skeletal muscle. To date, however, antisense chemical compounds used in DMD animal models have not been directly applied to a DMD patient having the same type of exon deletion. We recently identified a DMD patient with an exon 7 deletion and tried direct translation of the antisense PMO used in dog models to the DMD patient's cells. METHODOLOGY/PRINCIPAL FINDINGS: We converted fibroblasts of CXMD(J and the DMD patient to myotubes by FACS-aided MyoD transduction. Antisense PMOs targeting identical regions of dog and human dystrophin exons 6 and 8 were designed. These antisense PMOs were mixed and administered as a cocktail to either dog or human cells in vitro. In the CXMD(J and human DMD cells, we observed a similar efficacy of skipping of exons 6 and 8 and a similar extent of dystrophin protein recovery. The accompanying skipping of exon 9, which did not alter the reading frame, was different between cells of these two species. CONCLUSION/SIGNIFICANCE: Antisense PMOs, the effectiveness of which has been demonstrated in a dog model, achieved multi-exon skipping of dystrophin gene on the FACS-aided MyoD-transduced fibroblasts from an exon 7-deleted DMD patient, suggesting the feasibility of systemic multi-exon skipping in humans.

  12. The role of germline promoters and I exons in cytokine-induced gene-specific class switch recombination.

    Science.gov (United States)

    Dunnick, Wesley A; Shi, Jian; Holden, Victoria; Fontaine, Clinton; Collins, John T

    2011-01-01

    Germline transcription precedes class switch recombination (CSR). The promoter regions and I exons of these germline transcripts include binding sites for activation- and cytokine-induced transcription factors, and the promoter regions/I exons are essential for CSR. Therefore, it is a strong hypothesis that the promoter/I exons regions are responsible for much of cytokine-regulated, gene-specific CSR. We tested this hypothesis by swapping the germline promoter and I exons for the murine γ1 and γ2a H chain genes in a transgene of the entire H chain C-region locus. We found that the promoter/I exon for γ1 germline transcripts can direct robust IL-4-induced recombination to the γ2a gene. In contrast, the promoter/I exon for the γ2a germline transcripts works poorly in the context of the γ1 H chain gene, resulting in expression of γ1 H chains that is level. Nevertheless, the small amount of recombination to the chimeric γ1 gene is induced by IFN-γ. These results suggest that cytokine regulation of CSR, but not the magnitude of CSR, is regulated by the promoter/I exons.

  13. Climate Drivers of Spatiotemporal Variability of Precipitation in the Source Region of Yangtze River

    Science.gov (United States)

    Du, Y.; Berndtsson, R.; An, D.; Yuan, F.

    2017-12-01

    Variability of precipitation regime has significant influence on the environment sustainability in the source region of Yangtze River, especially when the vegetation degradation and biodiversity reduction have already occurred. Understanding the linkage between variability of local precipitation and global teleconnection patterns is essential for water resources management. Based on physical reasoning, indices of the climate drivers can provide a practical way of predicting precipitation. Due to high seasonal variability of precipitation, climate drivers of the seasonal precipitation also varies. However, few reports have gone through the teleconnections between large scale patterns with seasonal precipitation in the source region of Yangtze River. The objectives of this study are therefore (1) assessment of temporal trend and spatial variability of precipitation in the source region of Yangtze River; (2) identification of climate indices with strong influence on seasonal precipitation anomalies; (3) prediction of seasonal precipitation based on revealed climate indices. Principal component analysis and Spearman rank correlation were used to detect significant relationships. A feed-forward artificial neural network(ANN) was developed to predict seasonal precipitation using significant correlated climate indices. Different influencing climate indices were revealed for precipitation in each season, with significant level and lag times. Significant influencing factors were selected to be the predictors for ANN model. With correlation coefficients between observed and simulated precipitation over 0.5, the results were eligible to predict the precipitation of spring, summer and winter using teleconnections, which can improve integrated water resources management in the source region of Yangtze River.

  14. Regions of variability for a class of analytic and locally univalent ...

    Indian Academy of Sciences (India)

    f ′′(0) whenever f varies over the class C(A,B). Keywords. Janowski class; univalent functions; variability regions. 2000 Mathematics Subject Classification. 30C45. 1. Introduction and preliminary results. Let C be the complex plane. We use the following notations for open and closed discs with center c and radius r in the ...

  15. ESA STSE “SST Diurnal Variability: Regional Extend - Implications in Atmospheric Modelling”

    DEFF Research Database (Denmark)

    Karagali, Ioanna

    The diurnal variability of SST, driven by the coincident occurrence of low enough wind and solar heating, has been observed in various regions of the global ocean [4, 5, 6]. Atmospheric, oceanic and climate models are not adequately resolving the daily SST cycle, resulting in biases of the total...

  16. Representing major soil variability at regional scale by constrained Latin Hypercube Sampling of remote sensing data

    NARCIS (Netherlands)

    Mulder, V.L.; Bruin, de S.; Schaepman, M.E.

    2013-01-01

    This paper presents a sparse, remote sensing-based sampling approach making use of conditioned Latin Hypercube Sampling (cLHS) to assess variability in soil properties at regional scale. The method optimizes the sampling scheme for a defined spatial population based on selected covariates, which are

  17. Optical photometric variable stars towards the Galactic H II region NGC 2282

    Science.gov (United States)

    Dutta, Somnath; Mondal, Soumen; Joshi, Santosh; Jose, Jessy; Das, Ramkrishna; Ghosh, Supriyo

    2018-05-01

    We report here CCD I-band time series photometry of a young (2-5 Myr) cluster NGC 2282, in order to identify and understand the variability of pre-main-sequence (PMS) stars. The I-band photometry, down to ˜20.5 mag, enables us to probe the variability towards the lower mass end (˜0.1 M⊙) of PMS stars. From the light curves of 1627 stars, we identified 62 new photometric variable candidates. Their association with the region was established from H α emission and infrared (IR) excess. Among 62 variables, 30 young variables exhibit H α emission, near-IR (NIR)/mid-IR (MIR) excess or both and are candidate members of the cluster. Out of 62 variables, 41 are periodic variables, with a rotation rate ranging from 0.2-7 d. The period distribution exhibits a median period at ˜1 d, as in many young clusters (e.g. NGC 2264, ONC, etc.), but it follows a unimodal distribution, unlike others that have bimodality, with slow rotators peaking at ˜6-8 d. To investigate the rotation-disc and variability-disc connection, we derived the NIR excess from Δ(I - K) and the MIR excess from Spitzer [3.6]-[4.5] μm data. No conclusive evidence of slow rotation with the presence of discs around stars and fast rotation for discless stars is obtained from our periodic variables. A clear increasing trend of the variability amplitude with IR excess is found for all variables.

  18. Tannat grape composition responses to spatial variability of temperature in an Uruguay's coastal wine region

    Science.gov (United States)

    Fourment, Mercedes; Ferrer, Milka; González-Neves, Gustavo; Barbeau, Gérard; Bonnardot, Valérie; Quénol, Hervé

    2017-09-01

    Spatial variability of temperature was studied in relation to the berry basic composition and secondary compounds of the Tannat cultivar at harvest from vineyards located in Canelones and Montevideo, the most important wine region of Uruguay. Monitoring of berries and recording of temperature were performed in 10 commercial vineyards of Tannat situated in the southern coastal wine region of the country for three vintages (2012, 2013, and 2014). Results from a multivariate correlation analysis between berry composition and temperature over the three vintages showed that (1) Tannat responses to spatial variability of temperature were different over the vintages, (2) correlations between secondary metabolites and temperature were higher than those between primary metabolites, and (3) correlation values between berry composition and climate variables increased when ripening occurred under dry conditions (below average rainfall). For a particular studied vintage (2013), temperatures explained 82.5% of the spatial variability of the berry composition. Daily thermal amplitude was found to be the most important spatial mode of variability with lower values recorded at plots nearest to the sea and more exposed to La Plata River. The highest levels in secondary compounds were found in berries issued from plots situated as far as 18.3 km from La Plata River. The increasing knowledge of temperature spatial variability and its impact on grape berry composition contributes to providing possible issues to adapt grapevine to climate change.

  19. Morphometric variability of Arctodiaptomus salinus (Copepoda) in the Mediterranean-Black Sea region.

    Science.gov (United States)

    Anufriieva, Elena V; Shadrin, Nickolai V

    2015-11-18

    Inter-species variability in morphological traits creates a need to know the range of variability of characteristics in the species for taxonomic and ecological tasks. Copepoda Arctodiaptomus salinus, which inhabits water bodies across Eurasia and North Africa, plays a dominant role in plankton of different water bodies-from fresh to hypersaline. This work assesses the intra- and inter-population morphometric variability of A. salinus in the Mediterranean-Black Sea region and discusses some observed regularities. The variability of linear body parameters and proportions was studied. The impacts of salinity, temperature, and population density on morphological characteristics and their variability can manifest themselves in different ways at the intra- and inter-population levels. A significant effect of salinity, pH and temperature on the body proportions was not found. Their intra-population variability is dependent on temperature and salinity. Sexual dimorphism of A. salinus manifests in different linear parameters, proportions, and their variability. There were no effects of temperature, pH and salinity on the female/male parameter ratio. There were significant differences in the body proportions of males and females in different populations. The influence of temperature, salinity, and population density can be attributed to 80%-90% of intra-population variability of A. salinus. However, these factors can explain less than 40% of inter-population differences. Significant differences in the body proportions of males and females from different populations may suggest that some local populations of A. salinus in the Mediterranean-Black Sea region are in the initial stages of differentiation.

  20. YSOVAR: Mid-infrared variability in the star-forming region Lynds 1688

    Energy Technology Data Exchange (ETDEWEB)

    Günther, H. M.; Poppenhaeger, K.; Wolk, S. J.; Hora, J. L. [Harvard-Smithsonian Center for Astrophysics, 60 Garden Street, Cambridge, MA 02138 (United States); Cody, A. M. [Spitzer Science Center, California Institute of Technology, Pasadena, CA 91125 (United States); Covey, K. R. [Lowell Observatory, 1400 West Mars Hill Road, Flagstaff, AZ 86001 (United States); Hillenbrand, L. A. [Department of Astronomy, California Institute of Technology, Pasadena, CA 91125 (United States); Plavchan, P. [NASA Exoplanet Science Institute, California Institute of Technology, 770 South Wilson Avenue, Pasadena, CA 91125 (United States); Rebull, L. M.; Stauffer, J. R. [Spitzer Science Center/Caltech, 1200 East California Boulevard, Pasadena, CA 91125 (United States); Allen, L. [National Optical Astronomy Observatories, Tucson, AZ 85719 (United States); Bayo, A. [Max Planck Institut für Astronomie, Königstuhl 17, D-69117 Heidelberg (Germany); Gutermuth, R. A. [Department of Astronomy, University of Massachusetts, Amherst, MA 01003 (United States); Meng, H. Y. A. [Infrared Processing and Analysis Center, California Institute of Technology, MC 100-22, 770 South Wilson Avenue, Pasadena, CA 91125 (United States); Morales-Calderón, M. [Centro de Astrobiología (INTA-CSIC), ESAC Campus, P.O. Box 78, E-28691 Villanueva de la Canada (Spain); Parks, J. R. [Department of Physics and Astronomy, Georgia State University, 25 Park Place South, Atlanta, GA 30303 (United States); Song, Inseok, E-mail: hguenther@cfa.harvard.edu [Physics and Astronomy Department, University of Georgia, Athens, GA 30602-2451 (United States)

    2014-12-01

    The emission from young stellar objects (YSOs) in the mid-infrared (mid-IR) is dominated by the inner rim of their circumstellar disks. We present IR data from the Young Stellar Object VARiability (YSOVAR) survey of ∼800 objects in the direction of the Lynds 1688 (L1688) star-forming region over four visibility windows spanning 1.6 yr using the Spitzer Space Telescope in its warm mission phase. Among all light curves, 57 sources are cluster members identified based on their spectral energy distribution and X-ray emission. Almost all cluster members show significant variability. The amplitude of the variability is larger in more embedded YSOs. Ten out of 57 cluster members have periodic variations in the light curves with periods typically between three and seven days, but even for those sources, significant variability in addition to the periodic signal can be seen. No period is stable over 1.6 yr. Nonperiodic light curves often still show a preferred timescale of variability that is longer for more embedded sources. About half of all sources exhibit redder colors in a fainter state. This is compatible with time-variable absorption toward the YSO. The other half becomes bluer when fainter. These colors can only be explained with significant changes in the structure of the inner disk. No relation between mid-IR variability and stellar effective temperature or X-ray spectrum is found.

  1. Regional variability of farmer decision making and irrigation water use: insights from a data-scarce region of North India

    Science.gov (United States)

    O'Keeffe, Jimmy; Buytaert, Wouter; Brozović, Nick; Mijic, Ana

    2014-05-01

    Over the last fifty years, changes in agriculture brought about by the Green Revolution have transformed India from a famine-prone, drought-susceptible country into the worlds' third largest grain producer and one of the most intensively irrigated parts of the globe. Regionally, cheap energy, subsidised seeds and fertilisers, and in some areas Government purchase guarantees for grain promote the intensification of farming. While this allows farmers to survive, it also aggravates the drain agriculture is having on resources, particularly energy and water. Analysis at a regional scale, however, masks the considerable spatial variability that exists on a more localised level and must be taken into consideration to understand correctly aggregate system response to policy, hydrologic, and climatic change. In this study we present and analyse the results from over 100 farmer interviews conducted in the data-scarce districts of Jalaun and Sitapur on the Gangetic Plains of Uttar Pradesh during the post monsoon period of 2013. Variables such as the volumes and timing of irrigation water applied, sources of water, methods of abstraction and irrigation, and costs incurred are mapped, using qualitative data analysis and GIS. Large differences between the districts emerge, for instance in the region of Jalaun where cheaper canal water is available in addition to groundwater. This has enabled farmers to afford more water efficient technologies such as sprinklers, a practice not found in Sitapur which depends almost exclusively on more expensive diesel pumps. Results are used to delineate the spatial variability in water use practices, along with farmer behaviour and decision making. The primary data are compared with socio-economic information taken from regionally produced statistical abstracts. The combined data are used to identify the main drivers that influence farmer decision-making, which is in turn leading to groundwater overdraught in many parts of North India. Finally

  2. Internal and external variability in regional simulations of the Iberian Peninsula climate over the last millennium

    Directory of Open Access Journals (Sweden)

    J. J. Gómez-Navarro

    2012-01-01

    Full Text Available In this study we analyse the role of internal variability in regional climate simulations through a comparison of two regional paleoclimate simulations for the last millennium. They share the same external forcings and model configuration, differing only in the initial condition used to run the driving global model simulation. A comparison of these simulations allows us to study the role of internal variability in climate models at regional scales, and how it affects the long-term evolution of climate variables such as temperature and precipitation. The results indicate that, although temperature is homogeneously sensitive to the effect of external forcings, the evolution of precipitation is more strongly governed by random unpredictable internal dynamics. There are, however, some areas where the role of internal variability is lower than expected, allowing precipitation to respond to the external forcings. In this respect, we explore the underlying physical mechanisms responsible for it. This study identifies areas, depending on the season, in which a direct comparison between model simulations of precipitation and climate reconstructions would be meaningful, but also other areas where good agreement between them should not be expected even if both are perfect.

  3. High-resolution regional climate model evaluation using variable-resolution CESM over California

    Science.gov (United States)

    Huang, X.; Rhoades, A.; Ullrich, P. A.; Zarzycki, C. M.

    2015-12-01

    Understanding the effect of climate change at regional scales remains a topic of intensive research. Though computational constraints remain a problem, high horizontal resolution is needed to represent topographic forcing, which is a significant driver of local climate variability. Although regional climate models (RCMs) have traditionally been used at these scales, variable-resolution global climate models (VRGCMs) have recently arisen as an alternative for studying regional weather and climate allowing two-way interaction between these domains without the need for nudging. In this study, the recently developed variable-resolution option within the Community Earth System Model (CESM) is assessed for long-term regional climate modeling over California. Our variable-resolution simulations will focus on relatively high resolutions for climate assessment, namely 28km and 14km regional resolution, which are much more typical for dynamically downscaled studies. For comparison with the more widely used RCM method, the Weather Research and Forecasting (WRF) model will be used for simulations at 27km and 9km. All simulations use the AMIP (Atmospheric Model Intercomparison Project) protocols. The time period is from 1979-01-01 to 2005-12-31 (UTC), and year 1979 was discarded as spin up time. The mean climatology across California's diverse climate zones, including temperature and precipitation, is analyzed and contrasted with the Weather Research and Forcasting (WRF) model (as a traditional RCM), regional reanalysis, gridded observational datasets and uniform high-resolution CESM at 0.25 degree with the finite volume (FV) dynamical core. The results show that variable-resolution CESM is competitive in representing regional climatology on both annual and seasonal time scales. This assessment adds value to the use of VRGCMs for projecting climate change over the coming century and improve our understanding of both past and future regional climate related to fine

  4. Effects of Recent Regional Soil Moisture Variability on Global Net Ecosystem CO2 Exchange

    Science.gov (United States)

    Jones, L. A.; Madani, N.; Kimball, J. S.; Reichle, R. H.; Colliander, A.

    2017-12-01

    Soil moisture exerts a major regional control on the inter-annual variability of the global land sink for atmospheric CO2. In semi-arid regions, annual biomass production is closely coupled to variability in soil moisture availability, while in cold-season-affected regions, summer drought offsets the effects of advancing spring phenology. Availability of satellite solar-induced fluorescence (SIF) observations and improvements in atmospheric inversions has led to unprecedented ability to monitor atmospheric sink strength. However, discrepancies still exist between such top-down estimates as atmospheric inversion and bottom-up process and satellite driven models, indicating that relative strength, mechanisms, and interaction of driving factors remain poorly understood. We use soil moisture fields informed by Soil Moisture Active Passive Mission (SMAP) observations to compare recent (2015-2017) and historic (2000-2014) variability in net ecosystem land-atmosphere CO2 exchange (NEE). The operational SMAP Level 4 Carbon (L4C) product relates ground-based flux tower measurements to other bottom-up and global top-down estimates to underlying soil moisture and other driving conditions using data-assimilation-based SMAP Level 4 Soil Moisture (L4SM). Droughts in coastal Brazil, South Africa, Eastern Africa, and an anomalous wet period in Eastern Australia were observed by L4C. A seasonal seesaw pattern of below-normal sink strength at high latitudes relative to slightly above-normal sink strength for mid-latitudes was also observed. Whereas SMAP-based soil moisture is relatively informative for short-term temporal variability, soil moisture biases that vary in space and with season constrain the ability of the L4C estimates to accurately resolve NEE. Such biases might be caused by irrigation and plant-accessible ground-water. Nevertheless, SMAP L4C daily NEE estimates connect top-down estimates to variability of effective driving factors for accurate estimates of regional

  5. Uncertainties in Future Regional Sea Level Trends: How to Deal with the Internal Climate Variability?

    Science.gov (United States)

    Becker, M.; Karpytchev, M.; Hu, A.; Deser, C.; Lennartz-Sassinek, S.

    2017-12-01

    Today, the Climate models (CM) are the main tools for forecasting sea level rise (SLR) at global and regional scales. The CM forecasts are accompanied by inherent uncertainties. Understanding and reducing these uncertainties is becoming a matter of increasing urgency in order to provide robust estimates of SLR impact on coastal societies, which need sustainable choices of climate adaptation strategy. These CM uncertainties are linked to structural model formulation, initial conditions, emission scenario and internal variability. The internal variability is due to complex non-linear interactions within the Earth Climate System and can induce diverse quasi-periodic oscillatory modes and long-term persistences. To quantify the effects of internal variability, most studies used multi-model ensembles or sea level projections from a single model ran with perturbed initial conditions. However, large ensembles are not generally available, or too small, and computationally expensive. In this study, we use a power-law scaling of sea level fluctuations, as observed in many other geophysical signals and natural systems, which can be used to characterize the internal climate variability. From this specific statistical framework, we (1) use the pre-industrial control run of the National Center for Atmospheric Research Community Climate System Model (NCAR-CCSM) to test the robustness of the power-law scaling hypothesis; (2) employ the power-law statistics as a tool for assessing the spread of regional sea level projections due to the internal climate variability for the 21st century NCAR-CCSM; (3) compare the uncertainties in predicted sea level changes obtained from a NCAR-CCSM multi-member ensemble simulations with estimates derived for power-law processes, and (4) explore the sensitivity of spatial patterns of the internal variability and its effects on regional sea level projections.

  6. Impact of region contouring variability on image-based focal therapy evaluation

    Science.gov (United States)

    Gibson, Eli; Donaldson, Ian A.; Shah, Taimur T.; Hu, Yipeng; Ahmed, Hashim U.; Barratt, Dean C.

    2016-03-01

    Motivation: Focal therapy is an emerging low-morbidity treatment option for low-intermediate risk prostate cancer; however, challenges remain in accurately delivering treatment to specified targets and determining treatment success. Registered multi-parametric magnetic resonance imaging (MPMRI) acquired before and after treatment can support focal therapy evaluation and optimization; however, contouring variability, when defining the prostate, the clinical target volume (CTV) and the ablation region in images, reduces the precision of quantitative image-based focal therapy evaluation metrics. To inform the interpretation and clarify the limitations of such metrics, we investigated inter-observer contouring variability and its impact on four metrics. Methods: Pre-therapy and 2-week-post-therapy standard-of-care MPMRI were acquired from 5 focal cryotherapy patients. Two clinicians independently contoured, on each slice, the prostate (pre- and post-treatment) and the dominant index lesion CTV (pre-treatment) in the T2-weighted MRI, and the ablated region (post-treatment) in the dynamic-contrast- enhanced MRI. For each combination of clinician contours, post-treatment images were registered to pre-treatment images using a 3D biomechanical-model-based registration of prostate surfaces, and four metrics were computed: the proportion of the target tissue region that was ablated and the target:ablated region volume ratio for each of two targets (the CTV and an expanded planning target volume). Variance components analysis was used to measure the contribution of each type of contour to the variance in the therapy evaluation metrics. Conclusions: 14-23% of evaluation metric variance was attributable to contouring variability (including 6-12% from ablation region contouring); reducing this variability could improve the precision of focal therapy evaluation metrics.

  7. Exon-primed intron-crossing (EPIC markers for non-model teleost fishes

    Directory of Open Access Journals (Sweden)

    Riethoven Jean-Jack M

    2010-03-01

    Full Text Available Abstract Background Exon-primed intron-crossing (EPIC markers have three advantages over anonymous genomic sequences in studying evolution of natural populations. First, the universal primers designed in exon regions can be applied across a broad taxonomic range. Second, the homology of EPIC-amplified sequences can be easily determined by comparing either their exon or intron portion depending on the genetic distance between the taxa. Third, having both the exon and intron fragments could help in examining genetic variation at the intraspecific and interspecific level simultaneously, particularly helpful when studying species complex. However, the paucity of EPIC markers has hindered multilocus studies using nuclear gene sequences, particularly in teleost fishes. Results We introduce a bioinformatics pipeline for developing EPIC markers by comparing the whole genome sequences between two or more species. By applying this approach on five teleost fishes whose genomes were available in the Ensembl database http://www.ensembl.org, we identified 210 EPIC markers that have single-copy and conserved exon regions with identity greater than 85% among the five teleost fishes. We tested 12 randomly chosen EPIC markers in nine teleost species having a wide phylogenetic range. The success rate of amplifying and sequencing those markers varied from 44% to 100% in different species. We analyzed the exon sequences of the 12 EPIC markers from 13 teleosts. The resulting phylogeny contains many traditionally well-supported clades, indicating the usefulness of the exon portion of EPIC markers in reconstructing species phylogeny, in addition to the value of the intron portion of EPIC markers in interrogating the population history. Conclusions This study illustrated an effective approach to develop EPIC markers in a taxonomic group, where two or more genome sequences are available. The markers identified could be amplified across a broad taxonomic range of teleost

  8. Comparing the potential for identification of lactobacillus spp. of 16s rDNA variable regions

    International Nuclear Information System (INIS)

    Riano Pachon, Diego Mauricio; Vanegas Lopez, Maria Consuelo; Gonzalez Garcia, Laura Natalia

    2013-01-01

    16s rDNA is used for bacterial identification because its variation rate between species allows differentiation. The gene for this ribosomal subunit has 9 variable regions and some of them give more information than others. We were interested in evaluating the potential for species identification of each region and their combinations. We extracted the V1 to V8 regions of 16s rDNA from different strains and species of Lactobacillus and analyzed them using STAP (ss-RNA Taxonomy Assigning Pipeline) and RDP (Ribosomal Database Project) multiclassifier packages. Phylogenetic trees obtained by maximum likelihood analyses were compared. Classification results show that many regions give the correct genus classification using RDP and STAP; however they are not enough to classify up to the level of species. V5V6 region presents the highest quantity of informative fragments but also present the highest rate of false negatives. V1V3 region presents the highest rate of true positives (species) using STAP and the region V5V8 in RDP (genus).The phylogenetic result shows that the reference topology could be obtained using different combination of regions as V1V3 and V1V8.The experimental validation was done using commercial strains from a probiotic tampon. Sequencing analysis show that the V1V3 region gives the same information and result as the complete 16s rDNA; the three isolated strains correspond to the strains indicated in the product. We conclude that the V1V3 region is the minimum required region to classify Lactobacillus spp. in the correct way and this region is useful in metagenomics to analyze probiotics samples.

  9. Two centuries of observed atmospheric variability and change over the North Sea region

    Science.gov (United States)

    Stendel, Martin; van den Besselaar, Else; Hannachi, Abdel; Kent, Elizabeth; Lefebvre, Christiana; Rosenhagen, Gudrun; Schenk, Frederik; van der Schrier, Gerard; Woollings, Tim

    2016-04-01

    In the upcoming North Sea Region Climate Change Assessment (NOSCCA), we present a synthesis of current knowledge about past, present and possible future climate change in the North Sea region. A climate change assessment from published scientific work has been conducted as a kind of regional IPCC report, and a book has been produced that will be published by Springer in 2016. In the framework of the NOSCCA project, we examine past and present studies of variability and changes in atmospheric variables within the North Sea region over the instrumental period, roughly the past 200 years, based on observations and reanalyses. The variables addressed in this presentation are large-scale circulation, pressure and wind, surface air temperature, precipitation and radiative properties (clouds, solar radiation, and sunshine duration). While air temperature over land, not unexpectedly, has increased everywhere in the North Sea region, with strongest trends in spring and in the north of the region, a precipitation increase has been observed in the north and a decrease in the south of the region. This pattern goes along with a north-eastward shift of storm tracks and is in agreement with climate model projections under enhanced greenhouse gas concentrations. For other variables, it is not obvious which part of the observed changes may be due to anthropogenic activities and which is internally forced. It remains also unclear to what extent atmospheric circulation over the North Sea region is influenced by distant factors, in particular Arctic sea-ice decline in recent decades. There are indications of an increase in the number of deep cyclones (but not in the total number of cyclones), while storminess since the late 19th century shows no robust trends. The persistence of circulation types appears to have increased over the last century, and consequently, there is an indication for 'more extreme' extreme events. However, changes in extreme weather events are difficult to assess

  10. Climatic variability of river outflow in the Pantanal region and the influence of sea surface temperature

    Science.gov (United States)

    Silva, Carlos Batista; Silva, Maria Elisa Siqueira; Ambrizzi, Tércio

    2017-07-01

    This paper investigates possible linear relationships between climate, hydrology, and oceanic surface variability in the Pantanal region (in South America's central area), over interannual and interdecadal time ranges. In order to verify the mentioned relations, lagged correlation analysis and linear adjustment between river discharge at the Pantanal region and sea surface temperature were used. Composite analysis for atmospheric fields, air humidity flux divergence, and atmospheric circulation at low and high levels, for the period between 1970 and 2003, was analyzed. Results suggest that the river discharge in the Pantanal region is linearly associated with interdecadal and interannual oscillations in the Pacific and Atlantic oceans, making them good predictors to continental hydrological variables. Considering oceanic areas, 51 % of the annual discharge in the Pantanal region can be linearly explained by mean sea surface temperature (SST) in the Subtropical North Pacific, Tropical North Pacific, Extratropical South Pacific, and Extratropical North Atlantic over the period. Considering a forecast approach in seasonal scale, 66 % of the monthly discharge variance in Pantanal, 3 months ahead of SST, is explained by the oceanic variables, providing accuracy around 65 %. Annual discharge values in the Pantanal region are strongly related to the Pacific Decadal Oscillation (PDO) variability (with 52 % of linear correlation), making it possible to consider an interdecadal variability and a consequent subdivision of the whole period in three parts: 1st (1970-1977), 2nd (1978-1996), and 3rd (1997-2003) subperiods. The three subperiods coincide with distinct PDO phases: negative, positive, and negative, respectively. Convergence of humidity flux at low levels and the circulation pattern at high levels help to explain the drier and wetter subperiods. During the wetter 2nd subperiod, the air humidity convergence at low levels is much more evident than during the other two

  11. Exon - ASTRA | LSDB Archive [Life Science Database Archive metadata

    Lifescience Database Archive (English)

    Full Text Available switchLanguage; BLAST Search Image Search Home About Archive Update History Data ...ontents Exons in variants Data file File name: astra_exon.zip File URL: ftp://ftp.biosciencedbc.jp/archive/a... About This Database Database Description Download License Update History of This Database Site Policy | Contact Us Exon - ASTRA | LSDB Archive ...

  12. Coupled decadal variability of the North Atlantic Oscillation, regional rainfall and karst spring discharges in the Campania region (southern Italy

    Directory of Open Access Journals (Sweden)

    P. De Vita

    2012-05-01

    Full Text Available Thus far, studies on climate change have focused mainly on the variability of the atmospheric and surface components of the hydrologic cycle, investigating the impact of this variability on the environment, especially with respect to the risks of desertification, droughts and floods. Conversely, the impacts of climate change on the recharge of aquifers and on the variability of groundwater flow have been less investigated, especially in Mediterranean karst areas whose water supply systems depend heavily upon groundwater exploitation.

    In this paper, long-term climatic variability and its influence on groundwater recharge were analysed by examining decadal patterns of precipitation, air temperature and spring discharges in the Campania region (southern Italy, coupled with the North Atlantic Oscillation (NAO.

    The time series of precipitation and air temperature were gathered over 90 yr, from 1921 to 2010, using 18 rain gauges and 9 air temperature stations with the most continuous functioning. The time series of the winter NAO index and of the discharges of 3 karst springs, selected from those feeding the major aqueducts systems, were collected for the same period.

    Regional normalised indexes of the precipitation, air temperature and karst spring discharges were calculated, and different methods were applied to analyse the related time series, including long-term trend analysis using smoothing numerical techniques, cross-correlation and Fourier analysis.

    The investigation of the normalised indexes highlighted the existence of long-term complex periodicities, from 2 to more than 30 yr, with differences in average values of up to approximately ±30% for precipitation and karst spring discharges, which were both strongly correlated with the winter NAO index.

    Although the effects of the North Atlantic Oscillation (NAO had already been demonstrated in the long-term precipitation and streamflow patterns of

  13. Some aspects of regional flow of variable-density groundwater in crystalline basement rock of Sweden

    International Nuclear Information System (INIS)

    Voss, C.I.; Andersson, Johan

    1991-12-01

    The distribution of saltwaters in the Baltic shield in Sweden is consistent with ongoing but incomplete Holocene flushing and depends on the geometry and connectivity of conductive structures at both regional and local scales, and on the surface topography. Numerical simulation of regional variable-density fluid flow during Holocene land-rise and coastal regression shows that the existence of any old saltwater, whether derived from submarine recharge in regions below Sweden's highest post-glacial coastline or geochemical processes, is an indication either of slow fluid movements through the bedrock over long times, or of long travel distances through fracture systems before arriving at measurement points. During the land-rise period, regional flow is not affected by the variable density of fluids in the upper few kilometers of the shield and the topography of the water table is the only driving force. The spatial distribution of meteoric flushing water and pre-Holocene waters may be complex, with the possibility of relatively fresh water in fracture zones below salty units even at depths of a few kilometers. The domination of the topographic driving force implies that deep saltwater is not necessarily stagnant, and significant saltwater flows may be expected to occur in well-connected horizons even at depth. Local topography variation and fracture zone location combine to create a complex flow field in which local topographic driving forces extend to considerable depth in some areas, whereas regional topographic forces predominate in others. Thus, a pattern may be difficult to discern in measurements of the regional saltwater distribution, although it is clear that the coastal region is the major zone of discharge for deeper pre-Holocene fluids. During the land-rise period, regional flow equilibrates with changing climatic conditions and coastal positions, while the distribution of flushing water and older waters lags and will perpetually change between successive

  14. Climatological variability in modeling of long-term regional transport and deposition of air pollutants

    International Nuclear Information System (INIS)

    Shannon, J.D.

    1984-01-01

    In a growing number of emission policy analyses, regulatory proceedings, and cost/benefit assessments, numerical models of long-range transport and deposition of air pollutants have been exercised to estimate source-receptor (S-R) relationships--for the particular meteorological conditions input to the model. The representativeness of the meteorological conditions, or the variability of the model estimates with climatological input from different years or corresponding seasons from different years, is seldom evaluated. Here, two full years (1980 and 1981) of meteorological data, as well as data from January and July of 1978, are used in the Advanced Statistical Trajectory Regional Air Pollution (ASTRAP) model (Shannon, 1981), one of the eight Memorandum of Intent (MOI) models, to estimate deposition for the S-R matrix combination of eleven source regions and nine receptors used in the MOI reports. (S-R matrices of dimensions 40 by 9 were also examined in the MOI reports.) Improvements in the ASTRAP model and in the emission inventory since the earlier work require recalculation of the two-month 1978 simulation in order for the comparison to isolate the effect of meteorological variability. The source regions are listed, and the receptor regions are provide. For completeness, an additional source region, the western states and provinces, has been added, as well as a total for the 48 contiguous states and 10 provinces. 4 references, 9 tables

  15. An observational and modeling study of the regional impacts of climate variability

    Science.gov (United States)

    Horton, Radley M.

    Climate variability has large impacts on humans and their agricultural systems. Farmers are at the center of this agricultural network, but it is often agricultural planners---regional planners, extension agents, commodity groups and cooperatives---that translate climate information for users. Global climate models (GCMs) are a leading tool for understanding and predicting climate and climate change. Armed with climate projections and forecasts, agricultural planners adapt their decision-making to optimize outcomes. This thesis explores what GCMs can, and cannot, tell us about climate variability and change at regional scales. The question is important, since high-quality regional climate projections could assist farmers and regional planners in key management decisions, contributing to better agricultural outcomes. To answer these questions, climate variability and its regional impacts are explored in observations and models for the current and future climate. The goals are to identify impacts of observed variability, assess model simulation of variability, and explore how climate variability and its impacts may change under enhanced greenhouse warming. Chapter One explores how well Goddard Institute for Space Studies (GISS) atmospheric models, forced by historical sea surface temperatures (SST), simulate climatology and large-scale features during the exceptionally strong 1997--1999 El Nino Southern Oscillation (ENSO) cycle. Reasonable performance in this 'proof of concept' test is considered a minimum requirement for further study of variability in models. All model versions produce appropriate local changes with ENSO, indicating that with correct ocean temperatures these versions are capable of simulating the large-scale effects of ENSO around the globe. A high vertical resolution model (VHR) provides the best simulation. Evidence is also presented that SST anomalies outside the tropical Pacific may play a key role in generating remote teleconnections even

  16. Life-history strategies associated with local population variability confer regional stability.

    Science.gov (United States)

    Pribil, Stanislav; Houlahan, Jeff E

    2003-07-07

    A widely held ecological tenet is that, at the local scale, populations of K-selected species (i.e. low fecundity, long lifespan and large body size) will be less variable than populations of r-selected species (i.e. high fecundity, short lifespan and small body size). We examined the relationship between long-term population trends and life-history attributes for 185 bird species in the Czech Republic and found that, at regional spatial scales and over moderate temporal scales (100-120 years), K-selected bird species were more likely to show both large increases and decreases in population size than r-selected species. We conclude that life-history attributes commonly associated with variable populations at the local scale, confer stability at the regional scale.

  17. Constancy despite variability: Local and regional macrofaunal diversity in intertidal seagrass beds

    Science.gov (United States)

    Boyé, Aurélien; Legendre, Pierre; Grall, Jacques; Gauthier, Olivier

    2017-12-01

    The importance of seagrass habitat for the diversity of benthic fauna has been extensively studied worldwide. Most of the information available is, however, about α diversity while little consideration has been given to β diversity. To fill the knowledge gaps regarding the variability of epifaunal and infaunal seagrass assemblages at large spatial and temporal scales, we scrutinized an extensive dataset covering five years of monitoring of eight intertidal Zostera marina meadows around Brittany (France). High species richness arose at the regional scale from the combination of high local diversity of the meadows and substantial among-meadows β diversity. Epifauna and infauna appeared as distinct self-communities as they displayed different spatial and temporal patterns and varied in their responses to local hydrological conditions. Infauna had higher total β diversity than epifauna due to a tighter link to the great variability of local environmental conditions in the region. Both exhibited substantial variations in species composition and community structure with variations of dominant species that were accompanied by extensive change in numerous rare species. The dominant epifaunal species were all grazers. Changes in species composition were induced mostly by species replacement and rarely by richness differences between meadows. Indeed, species richness remained within a narrow range for all seagrass beds, suggesting a potential carrying capacity for species richness of the meadows. Overall, all meadows contributed equally to the regional turnover of seagrass macrofauna, emphasizing high variability and complementarity among beds at the regional scale. The implications of this substantial within-seagrass variability for the functioning of benthic ecosystems at broad scale and for conservation purposes in habitat mosaics warrant further investigations but our results clearly advocate taking into account within-habitat variation when evaluating the diversity

  18. Continental and Marine Environmental changes in Europe induced by Global Climate variability and Regional Paleogeography Changes

    OpenAIRE

    Popescu , Speranta - Maria

    2008-01-01

    version originale; My PhD and post-doctorate researches have focused on paleoclimatic, paleogeographical and paleoenvironmental reconstruction of the Mediterranean Basin and its adjacent seas (i.e. the residual former Paratethys) since 11 Ma. During this time-interval the Mediterranean marine and continental environments were affected by significant paleogeographic changes, forced by global climate and sea-level variability, plate tectonics and regional uplift of Alps s.l. and Carpathians. Tw...

  19. Long-term Variability of H2CO Masers in Star-forming Regions

    Science.gov (United States)

    Andreev, N.; Araya, E. D.; Hoffman, I. M.; Hofner, P.; Kurtz, S.; Linz, H.; Olmi, L.; Lorran-Costa, I.

    2017-10-01

    We present results of a multi-epoch monitoring program on variability of 6 cm formaldehyde (H2CO) masers in the massive star-forming region NGC 7538 IRS 1 from 2008 to 2015, conducted with the Green Bank Telescope, the Westerbork Radio Telescope , and the Very Large Array. We found that the similar variability behaviors of the two formaldehyde maser velocity components in NGC 7538 IRS 1 (which was pointed out by Araya and collaborators in 2007) have continued. The possibility that the variability is caused by changes in the maser amplification path in regions with similar morphology and kinematics is discussed. We also observed 12.2 GHz methanol and 22.2 GHz water masers toward NGC 7538 IRS 1. The brightest maser components of CH3OH and H2O species show a decrease in flux density as a function of time. The brightest H2CO maser component also shows a decrease in flux density and has a similar LSR velocity to the brightest H2O and 12.2 GHz CH3OH masers. The line parameters of radio recombination lines and the 20.17 and 20.97 GHz CH3OH transitions in NGC 7538 IRS 1 are also reported. In addition, we observed five other 6 cm formaldehyde maser regions. We found no evidence of significant variability of the 6 cm masers in these regions with respect to previous observations, the only possible exception being the maser in G29.96-0.02. All six sources were also observed in the {{{H}}}213{CO} isotopologue transition of the 6 cm H2CO line; {{{H}}}213{CO} absorption was detected in five of the sources. Estimated column density ratios [{{{H}}}212{CO}]/[{{{H}}}213{CO}] are reported.

  20. Near-surface wind variability over the broader Adriatic region: insights from an ensemble of regional climate models

    Science.gov (United States)

    Belušić, Andreina; Prtenjak, Maja Telišman; Güttler, Ivan; Ban, Nikolina; Leutwyler, David; Schär, Christoph

    2018-06-01

    Over the past few decades the horizontal resolution of regional climate models (RCMs) has steadily increased, leading to a better representation of small-scale topographic features and more details in simulating dynamical aspects, especially in coastal regions and over complex terrain. Due to its complex terrain, the broader Adriatic region represents a major challenge to state-of-the-art RCMs in simulating local wind systems realistically. The objective of this study is to identify the added value in near-surface wind due to the refined grid spacing of RCMs. For this purpose, we use a multi-model ensemble composed of CORDEX regional climate simulations at 0.11° and 0.44° grid spacing, forced by the ERA-Interim reanalysis, a COSMO convection-parameterizing simulation at 0.11° and a COSMO convection-resolving simulation at 0.02° grid spacing. Surface station observations from this region and satellite QuikSCAT data over the Adriatic Sea have been compared against daily output obtained from the available simulations. Both day-to-day wind and its frequency distribution are examined. The results indicate that the 0.44° RCMs rarely outperform ERA-Interim reanalysis, while the performance of the high-resolution simulations surpasses that of ERA-Interim. We also disclose that refining the grid spacing to a few km is needed to properly capture the small-scale wind systems. Finally, we show that the simulations frequently yield the accurate angle of local wind regimes, such as for the Bora flow, but overestimate the associated wind magnitude. Finally, spectral analysis shows good agreement between measurements and simulations, indicating the correct temporal variability of the wind speed.

  1. Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene

    Energy Technology Data Exchange (ETDEWEB)

    Putnam, E.A.; Cho, M.; Milewicz, D.M. [Univ. of Texas-Houston Medical School, Houston, TX (United States)] [and others

    1996-03-29

    Marfan syndrome is a dominantly inherited connective tissue disorder with a wide range of phenotypic severity. The condition is the result of mutations in FBN1, a large gene composed of 65 exons encoding the fibrillin-1 protein. While mutations causing classic manifestations of Marfan syndrome have been identified throughout the FBN1 gene, the six previously characterized mutations resulting in the severe, perinatal lethal form of Marfan syndrome have clustered in exons 24-32 of the gene. We screened 8 patients with either neonatal Marfan syndrome or severe cardiovascular complications of Marfan syndrome for mutations in this region of the gene. Using intron-based exon-specific primers, we amplified exons 23-32 from genomic DNAs, screened these fragments by single-stranded conformational polymorphism analysis, and sequenced indicated exons. This analysis documented mutations in exons 25-27 of the FBN1 mutations in 6 of these patients. These results, taken together with previously published FBN1 mutations in this region, further define the phenotype associated with mutations in exons 24-32 of the FBN1 gene, information important for the development of possible diagnostic tests and genetic counseling. 49 refs., 4 figs., 2 tabs.

  2. Use of epitope libraries to identify exon-specific monoclonal antibodies for characterization of altered dystrophins in muscular dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Nguyen thi Man; Morris, G.E. (North East Wales Inst., Clwyd (United Kingdom))

    1993-06-01

    The majority of mutations in Xp21-linked muscular dystrophy (MD) can be identified by PCR or Southern blotting, as deletions or duplications of groups of exons in the dystrophin gene, but it is not always possible to predict how much altered dystrophin, if any, will be produced. Use of exon-specific monoclonal antibodies (mAbs) on muscle biopsies from MD patients can, in principle, provide information on both the amount of altered dystrophin produced and, when dystrophin is present, the nature of the genetic deletion or point mutation. For this purpose, mAbs which recognize regions of dystrophin encoded by known exons and whose binding is unaffected by the absence of adjacent exons are required. To map mAbs to specific exons, random [open quotes]libraries[close quotes] of expressed dystrophin fragments were created by cloning DNAseI digestion fragments of a 4.3-kb dystrophin cDNA into a pTEX expression vector. The libraries were then used to locate the epitopes recognized by 48 mAbs to fragments of 25--60 amino acids within the 1,434-amino-acid dystrophin fragment used to produce the antibodies. This is sufficiently detailed to allow further refinement by using synthetic peptides and, in many cases, to identify the exon in the DMD (Duchenne MD) gene which encodes the epitope. To illustrate their use in dystrophin analysis, a Duchenne patient with a frameshift deletion of exons 42 and 43 makes a truncated dystrophin encoded by exons 1--41, and the authors now show that this can be detected in the sarcolemma by mAbs up to and including those specific for exon 41 epitopes but not by mAbs specific for exon 43 or later epitopes. 38 refs., 2 figs., 4 tabs.

  3. Genomic V exons from whole genome shotgun data in reptiles.

    Science.gov (United States)

    Olivieri, D N; von Haeften, B; Sánchez-Espinel, C; Faro, J; Gambón-Deza, F

    2014-08-01

    Reptiles and mammals diverged over 300 million years ago, creating two parallel evolutionary lineages amongst terrestrial vertebrates. In reptiles, two main evolutionary lines emerged: one gave rise to Squamata, while the other gave rise to Testudines, Crocodylia, and Aves. In this study, we determined the genomic variable (V) exons from whole genome shotgun sequencing (WGS) data in reptiles corresponding to the three main immunoglobulin (IG) loci and the four main T cell receptor (TR) loci. We show that Squamata lack the TRG and TRD genes, and snakes lack the IGKV genes. In representative species of Testudines and Crocodylia, the seven major IG and TR loci are maintained. As in mammals, genes of the IG loci can be grouped into well-defined IMGT clans through a multi-species phylogenetic analysis. We show that the reptilian IGHV and IGLV genes are distributed amongst the established mammalian clans, while their IGKV genes are found within a single clan, nearly exclusive from the mammalian sequences. The reptilian and mammalian TRAV genes cluster into six common evolutionary clades (since IMGT clans have not been defined for TR). In contrast, the reptilian TRBV genes cluster into three clades, which have few mammalian members. In this locus, the V exon sequences from mammals appear to have undergone different evolutionary diversification processes that occurred outside these shared reptilian clans. These sequences can be obtained in a freely available public repository (http://vgenerepertoire.org).

  4. Mitochondrial DNA control region variability in wild boars from west Balkans

    Directory of Open Access Journals (Sweden)

    Đan Mihajla

    2013-01-01

    Full Text Available The wild boar (Sus scrofa is one of most abundant game species in hunting areas of Balkan region. The large fraction of pre-glacial genetic diversity in wild boar populations from the Balkans was addressed due to high proportion of unique mtDNA haplotypes found in Greece, indicating Balkan as main refugial area for wild boars. The aim of the present study is to characterize mitochondrial DNA control region variability in wild boars from different areas in the West Balkan region, in order to evaluate level of genetic variability, to detect unique haplotypes and to infer possible structuring. The total number of 163 individuals from different sampling localities were included in the study. A fragment of the mtDNA control region was amplified and sequenced by standard procedures. Population genetic analyses were performed using several computer packages: BioEdit, ARLEQUIN 3.5.1.2., Network 4.6.0.0 and MEGA5. Eleven different haplotypes were identified and haplotype diversity was 0.676, nucleotide diversity 0.0026, and the average number of nucleotide differences (k 1.169. The mismatch distribution and neutrality tests indicated the expansion of the all populations. It is shown that high level of genetic diversity is present in the wild boars from the West Balkan region and we have managed to detect regional unique haplotypes in high frequency. Genetic diversity differences have been found in regional wild boar groups, clustering them in two main clusters, but further speculations on the reasons for the observed clustering are prevented due to restricted informativness of the single locus marker. Obtained knowledge of genetic variation in the wild boar may be relevant for improving knowledge of the phylogeny and phylogeography of the wild boars, but as well as for hunting societies and responsible authorities for the effective control of wild boar populations.

  5. The terroir of vineyards - climatic variability in an Austrian wine-growing region

    Science.gov (United States)

    Gerersdorfer, T.

    2010-09-01

    The description of a terroir is a concept in viticulture that relates the sensory attributes of wine to the environmental conditions in which the grapes grow. Many factors are involved including climate, soil, cultivar, human practices and all these factors interact manifold. The study area of Carnuntum is a small wine-growing region in the eastern part of Austria. It is rich of Roman remains which play a major role in tourism and the marketing strategies of the wines as well. An interdisciplinary study on the environmental characteristics particularly with regard to growing conditions of grapes was started in this region. The study is concerned with the description of the physiogeographic properties of the region and with the investigation of the dominating viticultural functions. Grape-vines depend on climatic conditions to a high extent. Compared to other influencing factors like soil, climate plays a significant role. In the framework of this interdisciplinary project climatic variability within the Carnuntum wine-growing region is investigated. On the one hand microclimatic variations are influenced by soil type and by canopy management. On the other hand the variability is a result of the topoclimate (altitude, aspect and slope) and therefore relief is a major terroir factor. Results of microclimatic measurements and variations are presented with focus on the interpretation of the relationship between relief, structure of the vineyards and the climatic conditions within the course of a full year period.

  6. Characterization of the Deep Water Surface Wave Variability in the California Current Region

    Science.gov (United States)

    Villas Bôas, Ana B.; Gille, Sarah T.; Mazloff, Matthew R.; Cornuelle, Bruce D.

    2017-11-01

    Surface waves are crucial for the dynamics of the upper ocean not only because they mediate exchanges of momentum, heat, energy, and gases between the ocean and the atmosphere, but also because they determine the sea state. The surface wave field in a given region is set by the combination of local and remote forcing. The present work characterizes the seasonal variability of the deep water surface wave field in the California Current region, as retrieved from over two decades of satellite altimetry data combined with wave buoys and wave model hindcast (WaveWatch III). In particular, the extent to which the local wind modulates the variability of the significant wave height, peak period, and peak direction is assessed. During spring/summer, regional-scale wind events of up to 10 m/s are the dominant forcing for waves off the California coast, leading to relatively short-period waves (8-10 s) that come predominantly from the north-northwest. The wave climatology throughout the California Current region shows average significant wave heights exceeding 2 m during most of the year, which may have implications for the planning and retrieval methods of the Surface Water and Ocean Topography (SWOT) satellite mission.

  7. Multi-region and single-cell sequencing reveal variable genomic heterogeneity in rectal cancer.

    Science.gov (United States)

    Liu, Mingshan; Liu, Yang; Di, Jiabo; Su, Zhe; Yang, Hong; Jiang, Beihai; Wang, Zaozao; Zhuang, Meng; Bai, Fan; Su, Xiangqian

    2017-11-23

    Colorectal cancer is a heterogeneous group of malignancies with complex molecular subtypes. While colon cancer has been widely investigated, studies on rectal cancer are very limited. Here, we performed multi-region whole-exome sequencing and single-cell whole-genome sequencing to examine the genomic intratumor heterogeneity (ITH) of rectal tumors. We sequenced nine tumor regions and 88 single cells from two rectal cancer patients with tumors of the same molecular classification and characterized their mutation profiles and somatic copy number alterations (SCNAs) at the multi-region and the single-cell levels. A variable extent of genomic heterogeneity was observed between the two patients, and the degree of ITH increased when analyzed on the single-cell level. We found that major SCNAs were early events in cancer development and inherited steadily. Single-cell sequencing revealed mutations and SCNAs which were hidden in bulk sequencing. In summary, we studied the ITH of rectal cancer at regional and single-cell resolution and demonstrated that variable heterogeneity existed in two patients. The mutational scenarios and SCNA profiles of two patients with treatment naïve from the same molecular subtype are quite different. Our results suggest each tumor possesses its own architecture, which may result in different diagnosis, prognosis, and drug responses. Remarkable ITH exists in the two patients we have studied, providing a preliminary impression of ITH in rectal cancer.

  8. Physical linkage of a human immunoglobulin heavy chain variable region gene segment to diversity and joining region elements

    International Nuclear Information System (INIS)

    Schroeder, H.W. Jr.; Walter, M.A.; Hofker, M.H.; Ebens, A.; Van Dijk, K.W.; Liao, L.C.; Cox, D.W.; Milner, E.C.B.; Perlmutter, R.M.

    1988-01-01

    Antibody genes are assembled from a series of germ-line gene segments that are juxtaposed during the maturation of B lymphocytes. Although diversification of the adult antibody repertoire results in large part from the combinatorial joining of these gene segments, a restricted set of antibody heavy chain variable (V H ), diversity (D H ), and joining (J H ) region gene segments appears preferentially in the human fetal repertoire. The authors report here that one of these early-expressed V H elements (termed V H 6) is the most 3' V H gene segment, positioned 77 kilobases on the 5' side of the J H locus and immediately adjacent to a set of previously described D H sequences. In addition to providing a physical map linking human V H , D H , and J H elements, these results support the view that the programmed development of the antibody V H repertoire is determined in part by the chromosomal position of these gene segments

  9. YSOVAR: MID-INFRARED VARIABILITY AMONG YSOs IN THE STAR FORMATION REGION GGD12-15

    Energy Technology Data Exchange (ETDEWEB)

    Wolk, Scott J.; Günther, H. Moritz; Poppenhaeger, Katja; Forbrich, J. [Harvard–Smithsonian Center for Astrophysics, 60 Garden Street, Cambridge, MA 02138 (United States); Cody, A. M. [NASA Ames Research Center, M/S 244-5 Moffett Field, CA 94035 (United States); Rebull, L. M.; Stauffer, J. R. [Spitzer Science Center/Caltech, 1200 E. California Blvd., Pasadena, CA 91125 (United States); Gutermuth, R. A. [Department of Astronomy, University of Massachusetts, Amherst, MA 01003 (United States); Hillenbrand, L. A. [Department of Astronomy, California Institute of Technology, Pasadena, CA 91125 (United States); Plavchan, P. [Department of Physics Astronomy and Materials Science, Missouri State University, Springfield, MO 65897 (United States); Covey, K. R. [Department of Physics and Astronomy, Western Washington Univ., Bellingham, WA 98225-9164 (United States); Song, Inseok, E-mail: swolk@cfa.harvard.edu [Physics and Astronomy Department, University of Georgia, Athens, GA 30602-2451 (United States)

    2015-11-15

    We present an IR-monitoring survey with the Spitzer Space Telescope of the star-forming region GGD 12-15. More than 1000 objects were monitored, including about 350 objects within the central 5′, which is found to be especially dense in cluster members. The monitoring took place over 38 days and is part of the Young Stellar Object VARiability project. The region was also the subject of a contemporaneous 67 ks Chandra observation. The field includes 119 previously identified pre-main sequence star candidates. X-rays are detected from 164 objects, 90 of which are identified with cluster members. Overall, we find that about half the objects in the central 5′ are young stellar objects (YSOs) based on a combination of their spectral energy distribution, IR variability, and X-ray emission. Most of the stars with IR excess relative to a photosphere show large amplitude (>0.1 mag) mid-infrared (mid-IR) variability. There are 39 periodic sources, and all but one is found to be a cluster member. Almost half of the periodic sources do not show IR excesses. Overall, more than 85% of the Class I, flat spectrum, and Class II sources are found to vary. The amplitude of the variability is larger in more embedded YSOs. Most of the Class I/II objects exhibit redder colors in a fainter state, which is compatible with time-variable extinction. A few become bluer when fainter, which can be explained with significant changes in the structure of the inner disk. A search for changes in the IR due to X-ray events is carried out, but the low number of flares prevented an analysis of the direct impact of X-ray flares on the IR light curves. However, we find that X-ray detected Class II sources have longer timescales for change in the MIR than a similar set of non-X-ray detected Class IIs.

  10. Regional and landscape-scale variability of Landsat-observed vegetation dynamics in northwest Siberian tundra

    International Nuclear Information System (INIS)

    Frost, Gerald V; Epstein, Howard E; Walker, Donald A

    2014-01-01

    Widespread increases in Arctic tundra productivity have been documented for decades using coarse-scale satellite observations, but finer-scale observations indicate that changes have been very uneven, with a high degree of landscape- and regional-scale heterogeneity. Here we analyze time-series of the Normalized Difference Vegetation Index (NDVI) observed by Landsat (1984–2012), to assess landscape- and regional-scale variability of tundra vegetation dynamics in the northwest Siberian Low Arctic, a little-studied region with varied soils, landscape histories, and permafrost attributes. We also estimate spatio-temporal rates of land-cover change associated with expansion of tall alder (Alnus) shrublands, by integrating Landsat time-series with very-high-resolution imagery dating to the mid-1960s. We compiled Landsat time-series for eleven widely-distributed landscapes, and performed linear regression of NDVI values on a per-pixel basis. We found positive net NDVI trends (‘greening’) in nine of eleven landscapes. Net greening occurred in alder shrublands in all landscapes, and strong greening tended to correspond to shrublands that developed since the 1960s. Much of the spatial variability of greening within landscapes was linked to landscape physiography and permafrost attributes, while between-landscape variability largely corresponded to differences in surficial geology. We conclude that continued increases in tundra productivity in the region are likely in upland tundra landscapes with fine-textured, cryoturbated soils; these areas currently tend to support discontinuous vegetation cover, but are highly susceptible to rapid increases in vegetation cover, as well as land-cover changes associated with the development of tall shrublands. (paper)

  11. UDP glucuronosyltransferase (UGT) 1A6 pharmacogenetics: I. Identification of polymorphisms in the 5'-regulatory and exon 1 regions, and association with human liver UGT1A6 gene expression and glucuronidation.

    Science.gov (United States)

    Krishnaswamy, Soundararajan; Hao, Qin; Al-Rohaimi, Abdul; Hesse, Leah M; von Moltke, Lisa L; Greenblatt, David J; Court, Michael H

    2005-06-01

    UDP glucuronosyltransferase (UGT) 1A6 is a major isoform in human liver that glucuronidates numerous drugs, toxins, and endogenous substrates with high interindividual variability. The molecular basis for this variability remains unknown, although it likely involves genetic and environmental factors. Phenotype-genotype studies were conducted using a well characterized human liver bank (n = 54) and serotonin glucuronidation as a UGT1A6-specific phenotype marker. A positive moderate-to-heavy alcohol use history (>14 drinks per week) was the only demographic factor examined that correlated with phenotype and was associated with 2-fold higher serotonin glucuronidation (p g, -1310del5, and -652g-->a). Initial univariate analyses did not identify any significant phenotype-genotype associations. However, in livers without substantial alcohol exposure, 50% lower UGT1A6 mRNA levels (p = 0.026) were found in carriers of the linked S7A-enhancer polymorphisms compared with noncarriers but without significant effect on UGT1A6 protein content or glucuronidation activities. Three major haplotypes, including (*)1A (reference), (*)1B (-1535g-->a and -427g-->c), and (*)2 (-1710c-->g, -1310del5, -652g-->a, S7A, T181A, and R184S), were identified, accounting for 90% of alleles. No association of haplotype with any of the phenotype measures could be discerned. In conclusion, although the identified UGT1A6 polymorphisms did not explain the observed glucuronidation variability, there does seem to be a significant role for environmental factors associated with alcohol consumption.

  12. Intraseasonal variability of organized convective systems in the Central Andes: Relationship to Regional Dynamical Features

    Science.gov (United States)

    Mohr, K. I.; Slayback, D. A.; Nicholls, S.; Yager, K.

    2013-12-01

    The Andes extend from the west coast of Colombia (10N) to the southern tip of Chile (53S). In southern Peru and Bolivia, the Central Andes is split into separate eastern and western cordilleras, with a high plateau (≥ 3000 m), the Altiplano, between them. Because 90% of the Earth's tropical mountain glaciers are located in the Central Andes, our study focuses on this region, defining its zonal extent as 7S-21S and the meridional extent as the terrain 1000 m and greater. Although intense convection occurs during the wet season in the Altiplano, it is not included in the lists of regions with frequent or the most intense convection. The scarcity of in-situ observations with sufficient density and temporal resolution to resolve individual storms or even mesoscale-organized cloud systems and documented biases in microwave-based rainfall products in poorly gauged mountainous regions have impeded the development of an extensive literature on convection and convective systems in this region. With the tropical glaciers receding at unprecedented rates, leaving seasonal precipitation as an increasingly important input to the water balance in alpine valley ecosystems and streams, understanding the nature and characteristics of the seasonal precipitation becomes increasingly important for the rural economies in this region. Previous work in analyzing precipitation in the Central Andes has emphasized interannual variability with respect to ENSO, this is the first study to focus on shorter scale variability with respect to organized convection. The present study took advantage of the University of Utah's Precipitation Features database compiled from 14 years of TRMM observations (1998-2012), supplemented by field observations of rainfall and streamflow, historical gauge data, and long-term WRF-simulations, to analyze the intraseasonal variability of precipitating systems and their relationship regional dynamical features such as the Bolivian High. Through time series and

  13. Changes of extreme precipitation and nonlinear influence of climate variables over monsoon region in China

    KAUST Repository

    Gao, Tao

    2017-07-19

    The El Niño-Southern Oscillation (ENSO), Indian Ocean Dipole (IOD), North Atlantic Oscillation (NAO), Atlantic Multidecadal Oscillation (AMO) and Pacific decadal oscillation (PDO) are well understood to be major drivers for the variability of precipitation extremes over monsoon regions in China (MRC). However, research on monsoon extremes in China and their associations with climate variables is limited. In this study, we examine the space-time variations of extreme precipitation across the MRC, and assess the time-varying influences of the climate drivers using Bayesian dynamic linear regression and their combined nonlinear effects through fitting generalized additive models. Results suggest that the central-east and south China is dominated by less frequent but more intense precipitation. Extreme rainfalls show significant positive trends, coupled with a significant decline of dry spells, indicating an increasing chance of occurrence of flood-induced disasters in the MRC during 1960–2014. Majority of the regional indices display some abrupt shifts during the 1990s. The influences of climate variables on monsoon extremes exhibit distinct interannual or interdecadal variations. IOD, ENSO and AMO have strong impacts on monsoon and extreme precipitation, especially during the 1990s, which is generally consistent with the abrupt shifts in precipitation regimes around this period. Moreover, ENSO mainly affects moderate rainfalls and dry spells, while IOD has a more significant impact on precipitation extremes. These findings could be helpful for improving the forecasting of monsoon extremes in China and the evaluations of climate models.

  14. Optimized Exon-Exon Junction Library and its Application on Rodents' Brain Transcriptome Analysis

    Directory of Open Access Journals (Sweden)

    Tong-Hai Dou

    2017-05-01

    Full Text Available ABSTRACT Background: Alternative splicing (AS, which plays an important role in gene expression and functional regulation, has been analyzed on genome-scale by various bioinformatic approaches based on RNA-seq data. Compared with the huge number of studies on mouse, the AS researches approaching the rat, whose genome is intermedia between mouse and human, were still limited. To enrich the knowledge on AS events in rodents' brain, we perfomed a comprehensive analysis on four transcriptome libraries (mouse cerebrum, mouse cerebellum, rat cerebrum, and rat cerebellum, recruiting high-throughput sequencing technology. An optimized exon-exon junction library approach was introduced to adapt the longer RNA-seq reads and to improve mapping efficiency. Results: In total, 7,106 mouse genes and 2,734 rat genes were differentially expressed between cerebrum and cerebellum, while 7,125 mouse genes and 1,795 rat genes exhibited varieties on transcript variant level. Only half of the differentially expressed exon-exon junctions could be reflected at gene expression level. Functional cluster analysis showed that 32 pathways in mouse and 9 pathways in rat were significantly enriched, and 6 of them were in both. Interestingly, some differentially expressed transcript variants did not show difference on gene expression level, such as PLCβ1 and Kcnma1. Conclusion: Our work provided a case study of a novel exon-exon junction strategy to analyze the expression of genes and isoforms, helping us understand which transcript contributes to the overall expression and further functional change.

  15. Intrasplicing coordinates alternative first exons with alternative splicing in the protein 4.1R gene

    Energy Technology Data Exchange (ETDEWEB)

    Conboy, John G.; Parra, Marilyn K.; Tan, Jeff S.; Mohandas, Narla; Conboy, John G.

    2008-11-07

    In the protein 4.1R gene, alternative first exons splice differentially to alternative 3' splice sites far downstream in exon 2'/2 (E2'/2). We describe a novel intrasplicing mechanism by which exon 1A (E1A) splices exclusively to the distal E2'/2 acceptor via two nested splicing reactions regulated by novel properties of exon 1B (E1B). E1B behaves as an exon in the first step, using its consensus 5' donor to splice to the proximal E2'/2 acceptor. A long region of downstream intron is excised, juxtaposing E1B with E2'/2 to generate a new composite acceptor containing the E1B branchpoint/pyrimidine tract and E2 distal 3' AG-dinucleotide. Next, the upstream E1A splices over E1B to this distal acceptor, excising the remaining intron plus E1B and E2' to form mature E1A/E2 product. We mapped branch points for both intrasplicing reactions and demonstrated that mutation of the E1B 5' splice site or branchpoint abrogates intrasplicing. In the 4.1R gene, intrasplicing ultimately determines N-terminal protein structure and function. More generally, intrasplicing represents a new mechanism whereby alternative promoters can be coordinated with downstream alternative splicing.

  16. Use of variability modes to evaluate AR4 climate models over the Euro-Atlantic region

    Energy Technology Data Exchange (ETDEWEB)

    Casado, M.J.; Pastor, M.A. [Agencia Estatal de Meteorologia (AEMET), Madrid (Spain)

    2012-01-15

    This paper analyzes the ability of the multi-model simulations from the Fourth Assessment Report of the Intergovernmental Panel on Climate Change (IPCC) to simulate the main leading modes of variability over the Euro-Atlantic region in winter: the North-Atlantic Oscillation (NAO), the Scandinavian mode (SCAND), the East/Atlantic Oscillation (EA) and the East Atlantic/Western Russia mode (EA/WR). These modes of variability have been evaluated both spatially, by analyzing the intensity and location of their anomaly centres, as well as temporally, by focusing on the probability density functions and e-folding time scales. The choice of variability modes as a tool for climate model assessment can be justified by the fact that modes of variability determine local climatic conditions and their likely change may have important implications for future climate changes. It is found that all the models considered are able to simulate reasonably well these four variability modes, the SCAND being the mode which is best spatially simulated. From a temporal point of view the NAO and SCAND modes are the best simulated. UKMO-HadGEM1 and CGCM3.1(T63) are the models best at reproducing spatial characteristics, whereas CCSM3 and CGCM3.1(T63) are the best ones with regard to the temporal features. GISS-AOM is the model showing the worst performance, in terms of both spatial and temporal features. These results may bring new insight into the selection and use of specific models to simulate Euro-Atlantic climate, with some models being clearly more successful in simulating patterns of temporal and spatial variability than others. (orig.)

  17. Longitudinal changes in glucocorticoid receptor exon 1F methylation and psychopathology after military deployment

    NARCIS (Netherlands)

    Schür, R R; Boks, M P; Rutten, Bart P. F.; Daskalakis, N.P.; de Nijs, Laurence; van Zuiden, M.; Kavelaars, A; Heijnen, C J; Joëls, M; Kahn, R S; Geuze, E; Vermetten, E; Vinkers, C H

    2017-01-01

    Several cross-sectional studies have demonstrated the relevance of DNA methylation of the glucocorticoid receptor exon 1F region (GR-1F) for trauma-related psychopathology. We conducted a longitudinal study to examine GR-1F methylation changes over time in relation to trauma exposure and the

  18. Targeted exonic sequencing of GWAS loci in the high extremes of the plasma lipids distribution

    NARCIS (Netherlands)

    Patel, Aniruddh P.; Peloso, Gina M.; Pirruccello, James P.; Johansen, Christopher T.; Dubé, Joseph B.; Larach, Daniel B.; Ban, Matthew R.; Dallinge-Thie, Geesje M.; Gupta, Namrata; Boehnke, Michael; Abecasis, Gonçalo R.; Kastelein, John J. P.; Hovingh, G. Kees; Hegele, Robert A.; Rader, Daniel J.; Kathiresan, Sekar

    2016-01-01

    Genome-wide association studies (GWAS) for plasma lipid levels have mapped numerous genomic loci, with each region often containing many protein-coding genes. Targeted re-sequencing of exons is a strategy to pinpoint causal variants and genes. We performed solution-based hybrid selection of 9008

  19. Longitudinal changes in glucocorticoid receptor exon 1(F) methylation and psychopathology after military deployment

    NARCIS (Netherlands)

    Schür, R. R.; Boks, M. P.; Rutten, B. P. F.; Daskalakis, N. P.; de Nijs, L.; van Zuiden, M.; Kavelaars, A.; Heijnen, C. J.; Joëls, M.; Kahn, R. S.; Geuze, E.; Vermetten, E.; Vinkers, C. H.

    2017-01-01

    Several cross-sectional studies have demonstrated the relevance of DNA methylation of the glucocorticoid receptor exon 1(F) region (GR-1(F)) for trauma-related psychopathology. We conducted a longitudinal study to examine GR-1(F) methylation changes over time in relation to trauma exposure and the

  20. Variability of the extent of the Hadley circulation in the southern hemisphere: a regional perspective

    Science.gov (United States)

    Nguyen, H.; Hendon, H. H.; Lim, E.-P.; Boschat, G.; Maloney, E.; Timbal, B.

    2018-01-01

    In order to understand the regional impacts of variations in the extent of the Hadley circulation in the Southern Hemisphere, regional Hadley circulations are defined in three sectors centered on the main tropical heat sources over Africa, Asia-Pacific (Maritime Continent) and the Americas. These regional circulations are defined by computing a streamfunction from the divergent component of the meridional wind. A major finding from this study is that year-to-year variability in the extent of the hemispheric Hadley circulation in the Southern Hemisphere is primarily governed by variations of the extent of the Hadley circulation in the Asia-Pacific sector, especially during austral spring and summer when there is little co-variability with the African sector, and the American sector exhibits an out of phase behavior. An expanded Hadley circulation in the Southern Hemisphere (both hemispherically and in the Asia-Pacific sector) is associated with La Niña conditions and a poleward expansion of the tropical wet zone in the Asia-Pacific sector. While La Niña also promotes expansion in the American and African sectors during austral winter, these tropical conditions tend to promote contraction in the two sectors during austral summer as a result of compensating convergence over the Americas and Africa sectors: a process driven by variations in the Walker circulation and Rossby wave trains emanating from the tropical Indian Ocean.

  1. Role of climate variability in the heatstroke death rates of Kanto region in Japan

    Science.gov (United States)

    Akihiko, Takaya; Morioka, Yushi; Behera, Swadhin K.

    2014-07-01

    The death toll by heatstroke in Japan, especially in Kanto region, has sharply increased since 1994 together with large interannual variability. The surface air temperature and humidity observed during boreal summers of 1980-2010 were examined to understand the role of climate in the death toll. The extremely hot days, when the daily maximum temperature exceeds 35°C, are more strongly associated with the death toll than the conventional Wet Bulb Globe Temperature index. The extremely hot days tend to be associated with El Niño/Southern Oscillation or the Indian Ocean Dipole, suggesting a potential link with tropical climate variability to the heatstroke related deaths. Also, the influence of these climate modes on the death toll has strengthened since 1994 probably related to global warming. It is possible to develop early warning systems based on seasonal climate predictions since recent climate models show excellent predictability skills for those climate modes.

  2. Climate related diseases. Current regional variability and projections to the year 2100

    Directory of Open Access Journals (Sweden)

    Błażejczyk Krzysztof

    2018-03-01

    Full Text Available The health of individuals and societies depends on different factors including atmospheric conditions which influence humans in direct and indirect ways. The paper presents regional variability of some climate related diseases (CRD in Poland: salmonellosis intoxications, Lyme boreliosis, skin cancers (morbidity and mortality, influenza, overcooling deaths, as well as respiratory and circulatory mortality. The research consisted of two stages: 1 statistical modelling basing on past data and 2 projections of CRD for three SRES scenarios of climate change (A1B, A2, B1 to the year 2100. Several simple and multiply regression models were found for the relationships between climate variables and CRD. The models were applied to project future levels of CRD. At the end of 21st century we must expect increase in: circulatory mortality, Lyme boreliosis infections and skin cancer morbidity and mortality. There is also projected decrease in: respiratory mortality, overcooling deaths and influenza infections.

  3. Using a predictive model to evaluate spatiotemporal variability in streamflow permanence across the Pacific Northwest region

    Science.gov (United States)

    Jaeger, K. L.

    2017-12-01

    The U.S. Geological Survey (USGS) has developed the PRObability Of Streamflow PERmanence (PROSPER) model, a GIS-based empirical model that provides predictions of the annual probability of a stream channel having year-round flow (Streamflow permanence probability; SPP) for any unregulated and minimally-impaired stream channel in the Pacific Northwest (Washington, Oregon, Idaho, western Montana). The model provides annual predictions for 2004-2016 at a 30-m spatial resolution based on monthly or annually updated values of climatic conditions, and static physiographic variables associated with the upstream basin. Prediction locations correspond to the channel network consistent with the National Hydrography Dataset stream grid and are publicly available through the USGS StreamStats platform (https://water.usgs.gov/osw/streamstats/). In snowmelt-driven systems, the most informative predictor variable was mean upstream snow water equivalent on May 1, which highlights the influence of late spring snow cover for supporting streamflow in mountain river networks. In non-snowmelt-driven systems, the most informative variable was mean annual precipitation. Streamflow permanence probabilities varied across the study area by geography and from year-to-year. Notably lower SPP corresponded to the climatically drier subregions of the study area. Higher SPP were concentrated in coastal and higher elevation mountain regions. In addition, SPP appeared to trend with average hydroclimatic conditions, which were also geographically coherent. The year-to-year variability lends support for the growing recognition of the spatiotemporal dynamism of streamflow permanence. An analysis of three focus basins located in contrasting geographical and hydroclimatic settings demonstrates differences in the sensitivity of streamflow permanence to antecedent climate conditions as a function of geography. Consequently, results suggest that PROSPER model can be a useful tool to evaluate regions of the

  4. Regional Community Climate Simulations with variable resolution meshes in the Community Earth System Model

    Science.gov (United States)

    Zarzycki, C. M.; Gettelman, A.; Callaghan, P.

    2017-12-01

    Accurately predicting weather extremes such as precipitation (floods and droughts) and temperature (heat waves) requires high resolution to resolve mesoscale dynamics and topography at horizontal scales of 10-30km. Simulating such resolutions globally for climate scales (years to decades) remains computationally impractical. Simulating only a small region of the planet is more tractable at these scales for climate applications. This work describes global simulations using variable-resolution static meshes with multiple dynamical cores that target the continental United States using developmental versions of the Community Earth System Model version 2 (CESM2). CESM2 is tested in idealized, aquaplanet and full physics configurations to evaluate variable mesh simulations against uniform high and uniform low resolution simulations at resolutions down to 15km. Different physical parameterization suites are also evaluated to gauge their sensitivity to resolution. Idealized variable-resolution mesh cases compare well to high resolution tests. More recent versions of the atmospheric physics, including cloud schemes for CESM2, are more stable with respect to changes in horizontal resolution. Most of the sensitivity is due to sensitivity to timestep and interactions between deep convection and large scale condensation, expected from the closure methods. The resulting full physics model produces a comparable climate to the global low resolution mesh and similar high frequency statistics in the high resolution region. Some biases are reduced (orographic precipitation in the western United States), but biases do not necessarily go away at high resolution (e.g. summertime JJA surface Temp). The simulations are able to reproduce uniform high resolution results, making them an effective tool for regional climate studies and are available in CESM2.

  5. Observations of regional and local variability in the optical properties of maritime clouds

    Energy Technology Data Exchange (ETDEWEB)

    White, A.B. [Univ. of Colorado at Boulder/National Oceanic and Atmospheric Administration, Boulder, CO (United States); Fairall, C.W. [Environmental Technology Lab., Boulder, CO (United States)

    1996-04-01

    White and Fairall (1995) calculated the optical properties of the marine boundary layer (MBL) clouds observed during the Atlantic Stratocumulus Transition Experiment (ASTEX) and compared their results with the results obtained by Fairall et al. for the MBL clouds observed during the First International Satellite Climatology Program (ISSCP) Regional Experiment (FIRE). They found a factor of two difference in the optical depth versus liquid water relationship that applies to the clouds observed in each case. In the present study, we present evidence to support this difference. We also investigate the local variability exhibited in the ASTEX optical properties using measurements of the boundary layer aerosol concentration.

  6. Collaborative Research: Improving Decadal Prediction of Arctic Climate Variability and Change Using a Regional Arctic

    Energy Technology Data Exchange (ETDEWEB)

    Gutowski, William J. [Iowa State Univ., Ames, IA (United States)

    2017-12-28

    This project developed and applied a regional Arctic System model for enhanced decadal predictions. It built on successful research by four of the current PIs with support from the DOE Climate Change Prediction Program, which has resulted in the development of a fully coupled Regional Arctic Climate Model (RACM) consisting of atmosphere, land-hydrology, ocean and sea ice components. An expanded RACM, a Regional Arctic System Model (RASM), has been set up to include ice sheets, ice caps, mountain glaciers, and dynamic vegetation to allow investigation of coupled physical processes responsible for decadal-scale climate change and variability in the Arctic. RASM can have high spatial resolution (~4-20 times higher than currently practical in global models) to advance modeling of critical processes and determine the need for their explicit representation in Global Earth System Models (GESMs). The pan-Arctic region is a key indicator of the state of global climate through polar amplification. However, a system-level understanding of critical arctic processes and feedbacks needs further development. Rapid climate change has occurred in a number of Arctic System components during the past few decades, including retreat of the perennial sea ice cover, increased surface melting of the Greenland ice sheet, acceleration and thinning of outlet glaciers, reduced snow cover, thawing permafrost, and shifts in vegetation. Such changes could have significant ramifications for global sea level, the ocean thermohaline circulation and heat budget, ecosystems, native communities, natural resource exploration, and commercial transportation. The overarching goal of the RASM project has been to advance understanding of past and present states of arctic climate and to improve seasonal to decadal predictions. To do this the project has focused on variability and long-term change of energy and freshwater flows through the arctic climate system. The three foci of this research are: - Changes

  7. Variability in the Water Footprint of Arable Crop Production across European Regions

    Directory of Open Access Journals (Sweden)

    Anne Gobin

    2017-02-01

    Full Text Available Crop growth and yield are affected by water use during the season: the green water footprint (WF accounts for rain water, the blue WF for irrigation and the grey WF for diluting agri-chemicals. We calibrated crop yield for FAO’s water balance model “Aquacrop” at field level. We collected weather, soil and crop inputs for 45 locations for the period 1992–2012. Calibrated model runs were conducted for wheat, barley, grain maize, oilseed rape, potato and sugar beet. The WF of cereals could be up to 20 times larger than the WF of tuber and root crops; the largest share was attributed to the green WF. The green and blue WF compared favourably with global benchmark values (R2 = 0.64–0.80; d = 0.91–0.95. The variability in the WF of arable crops across different regions in Europe is mainly due to variability in crop yield ( c v ¯ = 45% and to a lesser extent to variability in crop water use ( c v ¯ = 21%. The WF variability between countries ( c v ¯ = 14% is lower than the variability between seasons ( c v ¯ = 22% and between crops ( c v ¯ = 46%. Though modelled yields increased up to 50% under sprinkler irrigation, the water footprint still increased between 1% and 25%. Confronted with drainage and runoff, the grey WF tended to overestimate the contribution of nitrogen to the surface and groundwater. The results showed that the water footprint provides a measurable indicator that may support European water governance.

  8. Characterization of TTN Novex Splicing Variants across Species and the Role of RBM20 in Novex-Specific Exon Splicing

    Directory of Open Access Journals (Sweden)

    Zhilong Chen

    2018-02-01

    Full Text Available Titin (TTN is a major disease-causing gene in cardiac muscle. Titin (TTN contains 363 exons in human encoding various sizes of TTN protein due to alternative splicing regulated mainly by RNA binding motif 20 (RBM20. Three isoforms of TTN protein are produced by mutually exclusive exons 45 (Novex 1, 46 (Novex 2, and 48 (Novex 3. Alternatively splicing in Novex isoforms across species and whether Novex isoforms are associated with heart disease remains completely unknown. Cross-species exon comparison with the mVISTA online tool revealed that exon 45 is more highly conserved across all species than exons 46 and 48. Importantly, a conserved region between exons 47 and 48 across species was revealed for the first time. Reverse transcript polymerase chain reaction (RT-PCR and DNA sequencing confirmed a new exon named as 48′ in Novex 3. In addition, with primer pairs for Novex 1, a new truncated form preserving introns 44 and 45 was discovered. We discovered that Novex 2 is not expressed in the pig, mouse, and rat with Novex 2 primer pairs. Unexpectedly, three truncated forms were identified. One TTN variant with intron 46 retention is mainly expressed in the human and frog heart, another variant with co-expression of exons 45 and 46 exists predominantly in chicken and frog heart, and a third with retention of introns 45 and 46 is mainly expressed in pig, mouse, rat, and chicken. Using Rbm20 knockout rat heart, we revealed that RBM20 is not a splicing regulator of Novex variants. Furthermore, the expression levels of Novex variants in human hearts with cardiomyopathies suggested that Novexes 2 and 3 could be associated with dilated cardiomyopathy (DCM and/or arrhythmogenic right ventricular cardiomyopathy (ARVC. Taken together, our study reveals that splicing diversity of Novex exons across species and Novex variants might play a role in cardiomyopathy.

  9. Analysis of the relation between socioeconomic variables and truck trips in the metropolitan region of Rio de Janeiro

    Directory of Open Access Journals (Sweden)

    Beatriz Lagnier Gil Ferreira

    2016-04-01

    Full Text Available The goal of this paper is to analyze the relation between socioeconomic variables and freight trip generation, regarding the Metropolitan Region of Rio de Janeiro, through the use of linear regression models. A systematic literature review is conducted in order to identify which independent variables could be used in the models. The variables found are mostly related to the establishment, such as number of employees, floor area, number of stores among others; and socioeconomic variables, such as population, households and jobs in the region. The relation between the latter and number of truck trips is verified with linear regression models, and the results show that the models are valid and the variables are able to explain the freight flow in the region studied, contributing to  the region’s transport planning and  to the strategic planning  of companies that operate in the region.

  10. Quantifying uncertainty due to internal variability using high-resolution regional climate model simulations

    Science.gov (United States)

    Gutmann, E. D.; Ikeda, K.; Deser, C.; Rasmussen, R.; Clark, M. P.; Arnold, J. R.

    2015-12-01

    The uncertainty in future climate predictions is as large or larger than the mean climate change signal. As such, any predictions of future climate need to incorporate and quantify the sources of this uncertainty. One of the largest sources comes from the internal, chaotic, variability within the climate system itself. This variability has been approximated using the 30 ensemble members of the Community Earth System Model (CESM) large ensemble. Here we examine the wet and dry end members of this ensemble for cool-season precipitation in the Colorado Rocky Mountains with a set of high-resolution regional climate model simulations. We have used the Weather Research and Forecasting model (WRF) to simulate the periods 1990-2000, 2025-2035, and 2070-2080 on a 4km grid. These simulations show that the broad patterns of change depicted in CESM are inherited by the high-resolution simulations; however, the differences in the height and location of the mountains in the WRF simulation, relative to the CESM simulation, means that the location and magnitude of the precipitation changes are very different. We further show that high-resolution simulations with the Intermediate Complexity Atmospheric Research model (ICAR) predict a similar spatial pattern in the change signal as WRF for these ensemble members. We then use ICAR to examine the rest of the CESM Large Ensemble as well as the uncertainty in the regional climate model due to the choice of physics parameterizations.

  11. Late Holocene climate variability in the southwestern Mediterranean region: an integrated marine and terrestrial geochemical approach

    Directory of Open Access Journals (Sweden)

    C. Martín-Puertas

    2010-12-01

    Full Text Available A combination of marine (Alboran Sea cores, ODP 976 and TTR 300 G and terrestrial (Zoñar Lake, Andalucia, Spain geochemical proxies provides a high-resolution reconstruction of climate variability and human influence in the southwestern Mediterranean region for the last 4000 years at inter-centennial resolution. Proxies respond to changes in precipitation rather than temperature alone. Our combined terrestrial and marine archive documents a succession of dry and wet periods coherent with the North Atlantic climate signal. A dry period occurred prior to 2.7 cal ka BP – synchronously to the global aridity crisis of the third-millennium BC – and during the Medieval Climate Anomaly (1.4–0.7 cal ka BP. Wetter conditions prevailed from 2.7 to 1.4 cal ka BP. Hydrological signatures during the Little Ice Age are highly variable but consistent with more humidity than the Medieval Climate Anomaly. Additionally, Pb anomalies in sediments at the end of the Bronze Age suggest anthropogenic pollution earlier than the Roman Empire development in the Iberian Peninsula. The Late Holocene climate evolution of the in the study area confirms the see-saw pattern between the eastern and western Mediterranean regions and the higher influence of the North Atlantic dynamics in the western Mediterranean.

  12. Contributions of internal climate variability to mitigation of projected future regional sea level rise

    Science.gov (United States)

    Hu, A.; Bates, S. C.

    2017-12-01

    Observations indicate that the global mean surface temperature is rising, so does the global mean sea level. Sea level rise (SLR) can impose significant impacts on island and coastal communities, especially when SLR is compounded with storm surges. Here, via analyzing results from two sets of ensemble simulations from the Community Earth System Model version 1, we investigate how the potential SLR benefits through mitigating the future emission scenarios from business as usual to a mild-mitigation over the 21st Century would be affected by internal climate variability. Results show that there is almost no SLR benefit in the near term due to the large SLR variability due to the internal ocean dynamics. However, toward the end of the 21st century, the SLR benefit can be as much as a 26±1% reduction of the global mean SLR due to seawater thermal expansion. Regionally, the benefits from this mitigation for both near and long terms are heterogeneous. They vary from just a 11±5% SLR reduction in Melbourne, Australia to a 35±6% reduction in London. The processes contributing to these regional differences are the coupling of the wind-driven ocean circulation with the decadal scale sea surface temperature mode in the Pacific and Southern Oceans, and the changes of the thermohaline circulation and the mid-latitude air-sea coupling in the Atlantic.

  13. Impacts of Present and Future Climate Variability on Agriculture and Forestry in the Temperate Regions. Europe

    International Nuclear Information System (INIS)

    Maracchi, G.; Sirotenko, O.; Bindi, M.

    2005-01-01

    Agriculture and forestry will be particularly sensitive to changes in mean climate and climate variability in the northern and southern regions of Europe. Agriculture may be positively affected by climate change in the northern areas through the introduction of new crop species and varieties, higher crop production and expansion of suitable areas for crop cultivation. The disadvantages may be determined by an increase in need for plant protection, risk of nutrient leaching and accelerated breakdown of soil organic matter. In the southern areas the benefits of the projected climate change will be limited, while the disadvantages will be predominant. The increased water use efficiency caused by increasing CO2 will compensate for some of the negative effects of increasing water limitation and extreme weather events, but lower harvestable yields, higher yield variability and reduction in suitable areas of traditional crops are expected for these areas. Forestry in the Mediterranean region may be mainly affected by increases in drought and forest fires. In northern Europe, the increased precipitation is expected to be large enough to compensate for the increased evapotranspiration. On the other hand, however, increased precipitation, cloudiness and rain days and the reduced duration of snow cover and soil frost may negatively affect forest work and timber logging determining lower profitability of forest production and a decrease in recreational possibilities. Adaptation management strategies should be introduced, as effective tools, to reduce the negative impacts of climate change on agricultural and forestry sectors

  14. Climate variability and land cover change over the North American monsoon region (Invited)

    Science.gov (United States)

    Zeng, X.; Scheftic, W. D.; Broxton, P. D.

    2013-12-01

    The North American Monsoon System over Mexico and southwestern United States represents a weather/climate and ecosystem coupled "macrosystem". The weather and climate affect the seasonal and interannual variability of ecosystem, while the ecosystem change affects surface energy, water, and carbon fluxes that, in turn, affect weather and climate. Furthermore, long-term weather/climate data have a much coarser horizontal resolution than the satellite land cover data. Here the North American Regional Reanalysis (NARR) data at 32 km grid spacing will be combined with various satellite remote sensing products at 1 km and/or 8 km resolution from AVHRR, MODIS, and SPOT for the period of 1982 to present. Our analysis includes: a) precipitation, wind, and precipitable water data from NARR to characterize the North American monsoon; b) land cover type, normalized difference vegetation index (NDVI), green vegetation fraction, and leaf-area index (LAI) data to characterize the seasonal and interannual variability of ecosystem; c) assessing the consistency of various satellite products; and d) testing the coherence in the weather/climate and ecosystem variability.

  15. Regional regression models of percentile flows for the contiguous United States: Expert versus data-driven independent variable selection

    Directory of Open Access Journals (Sweden)

    Geoffrey Fouad

    2018-06-01

    New hydrological insights for the region: A set of three variables selected based on an expert assessment of factors that influence percentile flows performed similarly to larger sets of variables selected using a data-driven method. Expert assessment variables included mean annual precipitation, potential evapotranspiration, and baseflow index. Larger sets of up to 37 variables contributed little, if any, additional predictive information. Variables used to describe the distribution of basin data (e.g. standard deviation were not useful, and average values were sufficient to characterize physical and climatic basin conditions. Effectiveness of the expert assessment variables may be due to the high degree of multicollinearity (i.e. cross-correlation among additional variables. A tool is provided in the Supplementary material to predict percentile flows based on the three expert assessment variables. Future work should develop new variables with a strong understanding of the processes related to percentile flows.

  16. Interannual variability of mass transport in the Canary region from LADCP data

    Science.gov (United States)

    Comas-Rodríguez, Isis; Hernández-Guerra, Alonso; Vélez-Belchí, Pedro; Fraile-Nuez, Eugenio

    2010-05-01

    The variability of the Canary Current is a widely studied topic regarding its role as eastern boundary of the North Atlantic Subtropical Gyre. The Canary region provides indeed an interesting study area in terms of estimating variability scales of the Subtropical Gyre as well as the water masses dynamics. RAPROCAN (RAdial PROfunda de CANarias - Canary deep hydrographic section) is a project based on the reaching of these goals through the obtaining of hydrographic measures during cruises taking place approximately along 29°N, to the North of the Canary Archipelago, twice a year since 2006. The full depth sampling carried out allows the study of temperature and salinity distribution and the calculation of mass transports across the section. The transport estimates are compared to those obtained from previous measurements and estimates in the region. Therefore, transports and their variability through the last decade are quantified. The most significant advance made to previous works is the use of LADCP (Lowered Acoustic Doppler Current Profiler) data informing the initial geostrophic calculations. Thus, corrections are applied to each geostrophic profile considering the reference velocity obtained from LADCP data. ADCP-referenced transport estimates are obtained, providing a successful comparison between the velocity fields obtained from the hydrographic measures. While this work shows the interannual variability observed in winter since 1997, preliminary results confirm previous hypotheses about the magnitude of the Canary Current. Those results including LADCP data also provide new aspects in the circulation distribution across the Canary Archipelago. Also moored current meter data were taken into account in the up close study of the Current through the Lanzarote Passage. Interesting conclusions were drawn that certify the usefulness of LADCP data in referencing geostrophic calculations, while corroborating the results obtained through this methodology. Hence

  17. Improving plot- and regional-scale crop models for simulating impacts of climate variability and extremes

    Science.gov (United States)

    Tao, F.; Rötter, R.

    2013-12-01

    Many studies on global climate report that climate variability is increasing with more frequent and intense extreme events1. There are quite large uncertainties from both the plot- and regional-scale models in simulating impacts of climate variability and extremes on crop development, growth and productivity2,3. One key to reducing the uncertainties is better exploitation of experimental data to eliminate crop model deficiencies and develop better algorithms that more adequately capture the impacts of extreme events, such as high temperature and drought, on crop performance4,5. In the present study, in a first step, the inter-annual variability in wheat yield and climate from 1971 to 2012 in Finland was investigated. Using statistical approaches the impacts of climate variability and extremes on wheat growth and productivity were quantified. In a second step, a plot-scale model, WOFOST6, and a regional-scale crop model, MCWLA7, were calibrated and validated, and applied to simulate wheat growth and yield variability from 1971-2012. Next, the estimated impacts of high temperature stress, cold damage, and drought stress on crop growth and productivity based on the statistical approaches, and on crop simulation models WOFOST and MCWLA were compared. Then, the impact mechanisms of climate extremes on crop growth and productivity in the WOFOST model and MCWLA model were identified, and subsequently, the various algorithm and impact functions were fitted against the long-term crop trial data. Finally, the impact mechanisms, algorithms and functions in WOFOST model and MCWLA model were improved to better simulate the impacts of climate variability and extremes, particularly high temperature stress, cold damage and drought stress for location-specific and large area climate impact assessments. Our studies provide a good example of how to improve, in parallel, the plot- and regional-scale models for simulating impacts of climate variability and extremes, as needed for

  18. Source, variability, and transformation of nitrate in a regional karst aquifer: Edwards aquifer, central Texas

    Energy Technology Data Exchange (ETDEWEB)

    Musgrove, M., E-mail: mmusgrov@usgs.gov [U.S. Geological Survey, 1505 Ferguson Lane, Austin, TX 78754 (United States); Opsahl, S.P. [U.S. Geological Survey, 5563 DeZavala, Ste. 290, San Antonio, TX 78249 (United States); Mahler, B.J. [U.S. Geological Survey, 1505 Ferguson Lane, Austin, TX 78754 (United States); Herrington, C. [City of Austin Watershed Protection Department, Austin, TX 78704 (United States); Sample, T.L. [U.S. Geological Survey, 19241 David Memorial Dr., Ste. 180, Conroe, TX 77385 (United States); Banta, J.R. [U.S. Geological Survey, 5563 DeZavala, Ste. 290, San Antonio, TX 78249 (United States)

    2016-10-15

    Many karst regions are undergoing rapid population growth and expansion of urban land accompanied by increases in wastewater generation and changing patterns of nitrate (NO{sub 3}{sup −}) loading to surface and groundwater. We investigate variability and sources of NO{sub 3}{sup −} in a regional karst aquifer system, the Edwards aquifer of central Texas. Samples from streams recharging the aquifer, groundwater wells, and springs were collected during 2008–12 from the Barton Springs and San Antonio segments of the Edwards aquifer and analyzed for nitrogen (N) species concentrations and NO{sub 3}{sup −} stable isotopes (δ{sup 15}N and δ{sup 18}O). These data were augmented by historical data collected from 1937 to 2007. NO{sub 3}{sup −} concentrations and discharge data indicate that short-term variability (days to months) in groundwater NO{sub 3}{sup −} concentrations in the Barton Springs segment is controlled by occurrence of individual storms and multi-annual wet-dry cycles, whereas the lack of short-term variability in groundwater in the San Antonio segment indicates the dominance of transport along regional flow paths. In both segments, longer-term increases (years to decades) in NO{sub 3}{sup −} concentrations cannot be attributed to hydrologic conditions; rather, isotopic ratios and land-use change indicate that septic systems and land application of treated wastewater might be the source of increased loading of NO{sub 3}{sup −}. These results highlight the vulnerability of karst aquifers to NO{sub 3}{sup −} contamination from urban wastewater. An analysis of N-species loading in recharge and discharge for the Barton Springs segment during 2008–10 indicates an overall mass balance in total N, but recharge contains higher concentrations of organic N and lower concentrations of NO{sub 3}{sup −} than does discharge, consistent with nitrification of organic N within the aquifer and consumption of dissolved oxygen. This study demonstrates

  19. Source, variability, and transformation of nitrate in a regional karst aquifer: Edwards aquifer, central Texas

    International Nuclear Information System (INIS)

    Musgrove, M.; Opsahl, S.P.; Mahler, B.J.; Herrington, C.; Sample, T.L.; Banta, J.R.

    2016-01-01

    Many karst regions are undergoing rapid population growth and expansion of urban land accompanied by increases in wastewater generation and changing patterns of nitrate (NO 3 − ) loading to surface and groundwater. We investigate variability and sources of NO 3 − in a regional karst aquifer system, the Edwards aquifer of central Texas. Samples from streams recharging the aquifer, groundwater wells, and springs were collected during 2008–12 from the Barton Springs and San Antonio segments of the Edwards aquifer and analyzed for nitrogen (N) species concentrations and NO 3 − stable isotopes (δ 15 N and δ 18 O). These data were augmented by historical data collected from 1937 to 2007. NO 3 − concentrations and discharge data indicate that short-term variability (days to months) in groundwater NO 3 − concentrations in the Barton Springs segment is controlled by occurrence of individual storms and multi-annual wet-dry cycles, whereas the lack of short-term variability in groundwater in the San Antonio segment indicates the dominance of transport along regional flow paths. In both segments, longer-term increases (years to decades) in NO 3 − concentrations cannot be attributed to hydrologic conditions; rather, isotopic ratios and land-use change indicate that septic systems and land application of treated wastewater might be the source of increased loading of NO 3 − . These results highlight the vulnerability of karst aquifers to NO 3 − contamination from urban wastewater. An analysis of N-species loading in recharge and discharge for the Barton Springs segment during 2008–10 indicates an overall mass balance in total N, but recharge contains higher concentrations of organic N and lower concentrations of NO 3 − than does discharge, consistent with nitrification of organic N within the aquifer and consumption of dissolved oxygen. This study demonstrates that subaqueous nitrification of organic N in the aquifer, as opposed to in soils, might be a

  20. The Tokar Gap Jet: Regional Circulation, Diurnal Variability, and Moisture Transport Based on Numerical Simulations

    KAUST Repository

    Davis, Shannon R.

    2015-05-14

    The structure, variability, and regional connectivity of the Tokar Gap jet (TGJ) are described using WRF Model analyses and supporting atmospheric datasets from the East African–Red Sea–Arabian Peninsula (EARSAP) region during summer 2008. Sources of the TGJ’s unique quasi-diurnal nature and association with atypically high atmospheric moisture transport are traced back to larger-scale atmospheric dynamics influencing its forcing. These include seasonal shifts in the intertropical convergence zone (ITCZ), variability of the monsoon and North African wind regimes, and ties to other orographic flow patterns. Strong modulation of the TGJ by regional processes such as the desert heating cycle, wind convergence at the ITCZ surface front, and the local land–sea breeze cycle are described. Two case studies present the interplay of these influences in detail. The first of these was an “extreme” gap wind event on 12 July, in which horizontal velocities in the Tokar Gap exceeded 26 m s−1 and the flow from the jet extended the full width of the Red Sea basin. This event coincided with development of a large mesoscale convective complex (MCC) and precipitation at the entrance of the Tokar Gap as well as smaller gaps downstream along the Arabian Peninsula. More typical behavior of the TGJ during the 2008 summer is discussed using a second case study on 19 July. Downwind impact of the TGJ is evaluated using Lagrangian model trajectories and analysis of the lateral moisture fluxes (LMFs) during jet events. These results suggest means by which TGJ contributes to large LMFs and has potential bearing upon Sahelian rainfall and MCC development.

  1. Sensitivity of Sahelian Precipitation to Desert Dust under ENSO variability: a regional modeling study

    Science.gov (United States)

    Jordan, A.; Zaitchik, B. F.; Gnanadesikan, A.

    2016-12-01

    Mineral dust is estimated to comprise over half the total global aerosol burden, with a majority coming from the Sahara and Sahel region. Bounded by the Sahara Desert to the north and the Sahelian Savannah to the south, the Sahel experiences high interannual rainfall variability and a short rainy season during the boreal summer months. Observation-based data for the past three decades indicates a reduced dust emission trend, together with an increase in greening and surface roughness within the Sahel. Climate models used to study regional precipitation changes due to Saharan dust yield varied results, both in sign convention and magnitude. Inconsistency of model estimates drives future climate projections for the region that are highly varied and uncertain. We use the NASA-Unified Weather Research and Forecasting (NU-WRF) model to quantify the interaction and feedback between desert dust aerosol and Sahelian precipitation. Using nested domains at fine spatial resolution we resolve changes to mesoscale atmospheric circulation patterns due to dust, for representative phases of El Niño-Southern Oscillation (ENSO). The NU-WRF regional earth system model offers both advanced land surface data and resolvable detail of the mechanisms of the impact of Saharan dust. Results are compared to our previous work assessed over the Western Sahel using the Geophysical Fluid Dynamics Laboratory (GFDL) CM2Mc global climate model, and to other previous regional climate model studies. This prompts further research to help explain the dust-precipitation relationship and recent North African dust emission trends. This presentation will offer a quantitative analysis of differences in radiation budget, energy and moisture fluxes, and atmospheric dynamics due to desert dust aerosol over the Sahel.

  2. Aerosol and rainfall variability over the Indian monsoon region: distributions, trends and coupling

    Directory of Open Access Journals (Sweden)

    R. Gautam

    2009-09-01

    Full Text Available Aerosol solar absorption over the Indian monsoon region has a potential role of modulating the monsoon circulation and rainfall distribution as suggested by recent studies based on model simulations. Prior to the onset of the monsoon, northern India is influenced by significant dust transport that constitutes the bulk of the regional aerosol loading over the Gangetic-Himalayan region. In this paper, a multi-sensor characterization of the increasing pre-monsoon aerosol loading over northern India, in terms of their spatial, temporal and vertical distribution is presented. Aerosol transport from the northwestern arid regions into the Indo-Gangetic Plains and over the foothills of the Himalayas is found to be vertically extended to elevated altitudes (up to 5 km as observed from the space-borne lidar measurements (CALIPSO. In relation with the enhanced pre-monsoon aerosol loading and the associated solar absorption effects on tropospheric temperature anomalies, this paper investigates the monsoon rainfall variability over India in recent past decades from an observational viewpoint. It is found that the early summer monsoon rainfall over India is on the rise since 1950s, as indicated by historical rainfall data, with over 20% increase for the period 1950–2004. This large sustained increase in the early summer rainfall is led by the observed strengthening of the pre-monsoon tropospheric land-sea thermal gradient over the Indian monsoon region as indicated by microwave satellite measurements (MSU of tropospheric temperatures from 1979–2007. Combined analysis of changes in tropospheric temperatures and summer monsoon rainfall in the past three decades, suggest a future possibility of an emerging rainfall pattern of a wetter monsoon over South Asia in early summer followed by a drier period.

  3. Evaluating approaches to find exon chains based on long reads.

    Science.gov (United States)

    Kuosmanen, Anna; Norri, Tuukka; Mäkinen, Veli

    2018-05-01

    Transcript prediction can be modeled as a graph problem where exons are modeled as nodes and reads spanning two or more exons are modeled as exon chains. Pacific Biosciences third-generation sequencing technology produces significantly longer reads than earlier second-generation sequencing technologies, which gives valuable information about longer exon chains in a graph. However, with the high error rates of third-generation sequencing, aligning long reads correctly around the splice sites is a challenging task. Incorrect alignments lead to spurious nodes and arcs in the graph, which in turn lead to incorrect transcript predictions. We survey several approaches to find the exon chains corresponding to long reads in a splicing graph, and experimentally study the performance of these methods using simulated data to allow for sensitivity/precision analysis. Our experiments show that short reads from second-generation sequencing can be used to significantly improve exon chain correctness either by error-correcting the long reads before splicing graph creation, or by using them to create a splicing graph on which the long-read alignments are then projected. We also study the memory and time consumption of various modules, and show that accurate exon chains lead to significantly increased transcript prediction accuracy. The simulated data and in-house scripts used for this article are available at http://www.cs.helsinki.fi/group/gsa/exon-chains/exon-chains-bib.tar.bz2.

  4. A Study of Precipitation Climatology and Its Variability over Europe Using an Advanced Regional Model (WRF)

    KAUST Repository

    Dasari, Hari Prasad

    2015-03-06

    In recent years long-term precipitation trends on a regional scale have been given emphasis due to the impacts of global warming on regional hydrology. In this study, regional precipitation trends are simulated over the Europe continent for a 60-year period in 1950-2010 using an advanced regional model, WRF, to study extreme precipitation events over Europe. The model runs continuously for each year during the period at a horizontal resolution of 25 km with initial/ boundary conditions derived from the National Center for Environmental Prediction (NCEP) 2.5 degree reanalysis data sets. The E-OBS 0.25 degree rainfall observation analysis is used for model validation. Results indicate that the model could reproduce the spatial annual rainfall pattern over Europe with low amounts (250 - 750 mm) in Iberian Peninsula, moderate to large amounts (750 - 1500 mm) in central, eastern and northeastern parts of Europe and extremely heavy falls (1500 - 2000 mm) in hilly areas of Alps with a slight overestimation in Alps and underestimation in other parts of Europe. The regional model integrations showed increasing errors (mean absolute errors) and decreasing correlations with increasing time scale (daily to seasonal). Rainfall is simulated relatively better in Iberian Peninsula, northwest and central parts of Europe. A large spatial variability with the highest number of wet days over eastern, central Europe and Alps (~200 days/year) and less number of wet days over Iberian Peninsula (≤150 days/year) is also found in agreement with observations. The model could simulate the spatial rainfall climate variability reasonably well with low rainfall days (1 - 10 mm/days) in almost all zones, heavy rainfall events in western, northern, southeastern hilly and coastal zones and extremely heavy rainfall events in northern coastal zones. An increasing trend of heavy rainfall in central, southern and southeastern parts, a decreasing trend in Iberian Peninsula and a steady trend in other

  5. Spatial and temporal variability of rainfall in the Tocantins-Araguaia hydrographic region

    Directory of Open Access Journals (Sweden)

    Glauber Epifanio Loureiro

    2015-01-01

    Full Text Available Current paper examines the space-time dynamics of yearly rainfall of the Tocantins-Araguaia Hydrographic Region (TAHR, foregrounded on rainfall volume from isohyet maps and interpolated by Kriging geo-statistical method.  Rainfall space dynamics was undertaken by the analysis of descriptive statistics, Index of Meteorological Irregularity (IMI and Variation Coefficient. Temporal dynamics was analyzed through the distribution of total annual volume precipitation for each TAHR sub-basin by the Standardized Anomaly Index, trend and magnitude test provided by Mann-Kendall and Sen Tests. Results correlated with meteorological anomalies of the Atlantic (Dipole and Pacific (ENOS Oceans show a highly heterogeneous rainfall behavior with temporal variability. Or rather, a decrease of rainfall extensiveness during years of intense meteorological anomaly with a rainfall increase south of the High Tocantins and Araguaia sub-basins and a decrease of rainfall in the Lower Tocantins sub-basin, with El Niño features. Although the Mann-Kendall test does not show statistically a significant trend for rainfall in the TAHR region, Sen’s estimator reveals a decrease in rainfall in the High Tocantins (-1.24 km³ year-1 and Araguaia (-1.13 km³ year-1 sub-basins and a rainfall increase in the Lower Tocantins sub-basin (0.53 km³ year-1 and in the TAHR region (-1.5 km³ year-1.

  6. Antarctic climate variability on regional and continental scales over the last 2000 years

    Directory of Open Access Journals (Sweden)

    B. Stenni

    2017-11-01

    Full Text Available Climate trends in the Antarctic region remain poorly characterized, owing to the brevity and scarcity of direct climate observations and the large magnitude of interannual to decadal-scale climate variability. Here, within the framework of the PAGES Antarctica2k working group, we build an enlarged database of ice core water stable isotope records from Antarctica, consisting of 112 records. We produce both unweighted and weighted isotopic (δ18O composites and temperature reconstructions since 0 CE, binned at 5- and 10-year resolution, for seven climatically distinct regions covering the Antarctic continent. Following earlier work of the Antarctica2k working group, we also produce composites and reconstructions for the broader regions of East Antarctica, West Antarctica and the whole continent. We use three methods for our temperature reconstructions: (i a temperature scaling based on the δ18O–temperature relationship output from an ECHAM5-wiso model simulation nudged to ERA-Interim atmospheric reanalyses from 1979 to 2013, and adjusted for the West Antarctic Ice Sheet region to borehole temperature data, (ii a temperature scaling of the isotopic normalized anomalies to the variance of the regional reanalysis temperature and (iii a composite-plus-scaling approach used in a previous continent-scale reconstruction of Antarctic temperature since 1 CE but applied to the new Antarctic ice core database. Our new reconstructions confirm a significant cooling trend from 0 to 1900 CE across all Antarctic regions where records extend back into the 1st millennium, with the exception of the Wilkes Land coast and Weddell Sea coast regions. Within this long-term cooling trend from 0 to 1900 CE, we find that the warmest period occurs between 300 and 1000 CE, and the coldest interval occurs from 1200 to 1900 CE. Since 1900 CE, significant warming trends are identified for the West Antarctic Ice Sheet, the Dronning Maud Land coast and the

  7. Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable - Molecular pathology of mutations in PAH exon 11

    DEFF Research Database (Denmark)

    Heintz, Caroline; Dobrowolski, Steven F.; Andersen, Henriette Skovgaard

    2012-01-01

    as a vulnerable exon and used patient derived lymphoblast cell lines and PAH minigenes to study the molecular defect that impacted pre-mRNA processing. We showed that the c.1144T>C and c.1066-3C>T mutations cause exon 11 skipping, while the c.1139C>T mutation is neutral or slightly beneficial. The c.1144T......In about 20-30% of phenylketonuria (PKU) patients, phenylalanine (Phe) levels can be controlled by cofactor 6R-tetrahydrobiopterin (BH(4)) administration. The phenylalanine hydroxylase (PAH) genotype has a predictive value concerning BH(4)-response and therefore a correct assessment of the mutation...... molecular pathology is important. Mutations that disturb the splicing of exons (e.g. interplay between splice site strength and regulatory sequences like exon splicing enhancers (ESEs)/exon splicing silencers (ESSs)) may cause different severity of PKU. In this study, we identified PAH exon 11...

  8. Source, variability, and transformation of nitrate in a regional karst aquifer: Edwards aquifer, central Texas.

    Science.gov (United States)

    Musgrove, MaryLynn; Opsahl, Stephen P.; Mahler, Barbara J.; Herrington, Chris; Sample, Thomas; Banta, John

    2016-01-01

    Many karst regions are undergoing rapid population growth and expansion of urban land accompanied by increases in wastewater generation and changing patterns of nitrate (NO3−) loading to surface and groundwater. We investigate variability and sources of NO3− in a regional karst aquifer system, the Edwards aquifer of central Texas. Samples from streams recharging the aquifer, groundwater wells, and springs were collected during 2008–12 from the Barton Springs and San Antonio segments of the Edwards aquifer and analyzed for nitrogen (N) species concentrations and NO3− stable isotopes (δ15N and δ18O). These data were augmented by historical data collected from 1937 to 2007. NO3− concentrations and discharge data indicate that short-term variability (days to months) in groundwater NO3− concentrations in the Barton Springs segment is controlled by occurrence of individual storms and multi-annual wet-dry cycles, whereas the lack of short-term variability in groundwater in the San Antonio segment indicates the dominance of transport along regional flow paths. In both segments, longer-term increases (years to decades) in NO3− concentrations cannot be attributed to hydrologic conditions; rather, isotopic ratios and land-use change indicate that septic systems and land application of treated wastewater might be the source of increased loading of NO3−. These results highlight the vulnerability of karst aquifers to NO3− contamination from urban wastewater. An analysis of N-species loading in recharge and discharge for the Barton Springs segment during 2008–10 indicates an overall mass balance in total N, but recharge contains higher concentrations of organic N and lower concentrations of NO3−than does discharge, consistent with nitrification of organic N within the aquifer and consumption of dissolved oxygen. This study demonstrates that subaqueous nitrification of organic N in the aquifer, as opposed to in soils, might be a previously

  9. Magnetic Field Diagnostics and Spatio-Temporal Variability of the Solar Transition Region

    Science.gov (United States)

    Peter, H.

    2013-12-01

    Magnetic field diagnostics of the transition region from the chromosphere to the corona faces us with the problem that one has to apply extreme-ultraviolet (EUV) spectro-polarimetry. While for the coronal diagnostics techniques already exist in the form of infrared coronagraphy above the limb and radio observations on the disk, one has to investigate EUV observations for the transition region. However, so far the success of such observations has been limited, but various current projects aim to obtain spectro-polarimetric data in the extreme UV in the near future. Therefore it is timely to study the polarimetric signals we can expect from these observations through realistic forward modeling. We employ a 3D magneto-hydrodynamic (MHD) forward model of the solar corona and synthesize the Stokes I and Stokes V profiles of C iv (1548 Å). A signal well above 0.001 in Stokes V can be expected even if one integrates for several minutes to reach the required signal-to-noise ratio, and despite the rapidly changing intensity in the model (just as in observations). This variability of the intensity is often used as an argument against transition region magnetic diagnostics, which requires exposure times of minutes. However, the magnetic field is evolving much slower than the intensity, and therefore the degree of (circular) polarization remains rather constant when one integrates in time. Our study shows that it is possible to measure the transition region magnetic field if a polarimetric accuracy on the order of 0.001 can be reached, which we can expect from planned instrumentation.

  10. Characterizing isotopic variability of primary production and consumers in Great Plains ecosystems during protracted regional drought

    Science.gov (United States)

    Haveles, A. W.; Fox-Dobbs, K.; Talmadge, K. A.; Fetrow, A.; Fox, D. L.

    2012-12-01

    Over the last few years (2010-2012), the Great Plains of the central USA experienced protracted drought conditions, including historically severe drought during Summer, 2011. Drought severity in the region generally decreases with increasing latitude, but episodic drought is a fundamental trait of grassland ecosystems. Documenting above ground energy and nutrient flow with current drought is critical to understanding responses of grassland ecosystems in the region to predicted increased episodicity of rainfall and recurrence of drought due to anthropogenic climate change. Characterization of biogeochemical variability of modern ecosystems at the microhabitat, local landscape, and regional scales is also necessary to interpret biogeochemical records of ancient grasslands based on paleosols and fossil mammals. Here, we characterize three grassland ecosystems that span the drought gradient in the Great Plains (sites in the Texas panhandle, southwest Kansas, and northwest Nebraska). We measured δ13C and δ15N values of plants and consumers to characterize the biogeochemical variability within each ecosystem. Vegetation at each site is a mix of trees, shrubs, herbs, and cool- and warm-growing season grasses (C3 and C4, respectively). Thus, consumers have access to isotopically distinct sources of forage that vary in abundance with microhabitat (e.g., open grassland, shrub thicket, riparian woodland). Observations indicate herbivorous arthropod (grasshoppers and crickets) abundance follows drought severity, with high abundance of many species in Texas, and low abundance of few species in Nebraska. Small mammal (rodents) abundance follows the inverse pattern with 0.8%, 3.2% and 17.2% capture success in Texas, Kansas and Nebraska, respectively. The inverse abundance patterns of consumer groups may result from greater sensitivity of small mammal consumers with high metabolic needs to lower local net primary productivity and forage quality under drought conditions. As a

  11. Change features and regional distribution of temperature trend and variability joint mode in mainland China

    Science.gov (United States)

    Chen, Xi; Li, Ning; Zhang, Zhengtao; Feng, Jieling; Wang, Ye

    2018-05-01

    Adaption for temperature should be suitable to local conditions for regional differences in temperature change features. This paper proposed to utilize nine temperature modes that joint the trend (increasing/decreasing/unchanged) with variability (intensifying/weakening/unchanged) to investigate features of temperature change in mainland China. Monthly temperature data over the period 1960-2013 were obtained from 522 national basic and reference meteorological stations. Here, temperature trend (TT) was reflected by the trend of mean annual temperature (MAT) and the uptrend (downtrend) of inter-monthly sliding standard deviation (SSD) series with a sliding length of 29 years (348 months) was used for representing the intensification (weakening) of temperature variability (TV). The Mann-Kendall method and the least squares method were applied to assess the significance and quantify the magnitude of trend in MAT and SSD time series, respectively. The results show that there is a consistent warming trend throughout the country except for only three stations in which a cooling trend is identified. Moreover, the overall increasing rate in the north of 35° N is the highest, over 0.4 °C/decade for most stations. TV is weakened for almost 98% of the stations, indicating the low instability of temperature at a national scale. Finally, temperature mode (TM), for more than 90% of the stations, is the combination of an increasing TT with a weakened TV (mode 8). So, it is more important for people to adapt to the increasing temperature in these regions. Compared to using annual temperature data to calculate SSD, monthly data can accurately reflect the inter-monthly change of temperature and reserve more initial characteristics of temperature.

  12. Peucedanum ostruthium (L. Koch: Morphological and phytochemical variability of twelve accessions from the Swiss alpine region

    Directory of Open Access Journals (Sweden)

    McCardell, Jessica Heather

    2016-07-01

    Full Text Available Ostruthin, a natural bioactive compound mainly occurring in the roots of Peucedanum ostruthium, is the focus of this study. P. ostruthium was collected from twelve locations in the Swiss alpine region and reared in an experimental field, subdivided into twelve lots over two years. In the spring and fall, a portion of each of the twelve accessions was harvested and separated into above and below ground plant parts. The dried plants were then extracted with 60 % ethanol using accelerated solvent extraction (ASE and analyzed using high pressure liquid chromatography (HPLC.The above and below ground plant parts were then analyzed concerning their dry matter yield (DMY, their ostruthin concentration and their ostruthin yield. Focusing on ostruthin, it was found that the below ground plant parts harvested in the fall rendered the highest ostruthin yield. Furthermore, a variability concerning ostruthin among the twelve accessions was found. This variability among the accessions is of interest with regards to a breeding program used to develop a cultivar with a high ostruthin yield.

  13. Understanding resilience of pastoralists to climate change and variability in the Southern Afar Region, Ethiopia

    Directory of Open Access Journals (Sweden)

    Muluken Mekuyie

    Full Text Available Change in climate and climate extremes are acknowledged as a vital challenge to pastoral production systems. Alternative systems that are accessible to a household in order to make a living could determine the household’s resilience at a given point in time. This study was conducted in the Southern Afar region in Ethiopia to understand the resilience of pastoralists to climate change and variability. A household questionnaire survey and focus group discussions were employed to collect primary data at household level. A total of 250 pastoral households were sampled using stratified random sampling. The data obtained were analysed using descriptive statistics and principal component analysis. The resilience of households to climate shocks and stresses was determined using a two-step modelling approach by clustering households into livelihood groups, gender and districts. The results indicated that agro-pastoral households were more resilient than pastoralists to climate-induced shock. Furthermore, households in the Gewane district were more resilient than those in the Amibara district. Female-headed households were less resilient than male-headed households. Enhancing livestock assets and productivity, social safety nets, access to market, credit, extension services and education, improving irrigation crop farming, and providing farm inputs significantly enhanced the resilience of pastoralists to climate change and variability. Keywords: Asset, Livelihood, Climate shock, Pastoralist, Resilience

  14. Providing a non-deterministic representation of spatial variability of precipitation in the Everest region

    Directory of Open Access Journals (Sweden)

    J. Eeckman

    2017-09-01

    Full Text Available This paper provides a new representation of the effect of altitude on precipitation that represents spatial and temporal variability in precipitation in the Everest region. Exclusive observation data are used to infer a piecewise linear function for the relation between altitude and precipitation and significant seasonal variations are highlighted. An original ensemble approach is applied to provide non-deterministic water budgets for middle and high-mountain catchments. Physical processes at the soil–atmosphere interface are represented through the Interactions Soil–Biosphere–Atmosphere (ISBA surface scheme. Uncertainties associated with the model parametrization are limited by the integration of in situ measurements of soils and vegetation properties. Uncertainties associated with the representation of the orographic effect are shown to account for up to 16 % of annual total precipitation. Annual evapotranspiration is shown to represent 26 % ± 1 % of annual total precipitation for the mid-altitude catchment and 34% ± 3 % for the high-altitude catchment. Snowfall contribution is shown to be neglectable for the mid-altitude catchment, and it represents up to 44 % ± 8 % of total precipitation for the high-altitude catchment. These simulations on the local scale enhance current knowledge of the spatial variability in hydroclimatic processes in high- and mid-altitude mountain environments.

  15. ANALYSIS AND PLANNING OF REGIONAL DEVELOPMENT - CONTEXTUAL VARIABLES TO DEVELOP A MODEL FOR MONITORING FINANCIAL INDICATORS AT REGIONAL LEVEL.

    Directory of Open Access Journals (Sweden)

    CRIS TINA GRADEA

    2013-12-01

    Full Text Available Application of quantitative techniques in regional analysis can provide an understanding of both the change in time of regional economic performance and the interdependencies between economic sectors, including the use of projections to test the potential future development of the region. Qualitative techniques allow also the explanation of the reason for regional development patterns occurring in a region and the improvement of analysts' ability to reflect on the results and economic opportunities for a future based on collective experience, wisdom and judgment of the actors in region economies.

  16. Changes of regional climate variability in central Europe during the past 250 years

    Science.gov (United States)

    Böhm, R.

    2012-05-01

    The paper uses the data potential of very long and homogenized instrumental climate time series in the south central Europe for analyzing one feature which is very dominant in the climate change debate --whether anthropogenic climate warming causes or goes along with an increase of climate extremes. The monthly resolved data of the HISTALP data collection provide 58 single series for the three climate elements, air pressure, air temperature and precipitation, that start earlier than 1831 and extend back to 1760 in some cases. Trends and long-term low frequent climate evolution is only shortly touched in the paper. The main goal is the analysis of trends or changes of high frequent interannual and interseasonal variability. In other words, it is features like extremely hot summers, very cold winters, excessively dry or wet seasons which the study aims at. The methods used are based on detrended highpass series whose variance is analyzed in discrete 30-year windows moving over the entire instrumental period. The analysis of discrete subintervals relies on the unique number of 8 (for precipitation 7) such "normal periods". The second approach is based on the same subintervals though not in fixed but moving windows over the entire instrumental period. The first result of the study is the clear evidence that there has been no increase of variability during the past 250 years in the region. The second finding is similar but concentrates on the recent three decades which are of particular interest because they are the first 30 years with dominating anthropogenic greenhouse gas forcing. We can show that also this recent anthropogenic normal period shows no widening of the PDF (probability density function) compared to the preceding ones. The third finding is based on the moving window technique. It shows that interannual variability changes show a clear centennial oscillating structure for all three climate elements in the region. For the time being we have no explanation

  17. Regional precipitation variability in East Asia related to climate and environmental factors during 1979-2012

    Science.gov (United States)

    Deng, Yinyin; Gao, Tao; Gao, Huiwang; Yao, Xiaohong; Xie, Lian

    2014-01-01

    This paper studies the inter-annual precipitation variations in different regions of East Asia from oceans to interior areas in China during 1979 – 2012. The results computed by Empirical Orthogonal Functions (EOF) demonstrate that the annual precipitation changes are mainly related to the El Niño-Southern Oscillation, East Asian summer monsoon and aerosols. We also found that the increased Sea surface temperature (SST) could explain the precipitation changes over the Northwest Pacific in the dry season (Oct. – May) and the East China Sea and the South China Sea in the rainy season (Jun. – Sep.). The precipitation changes over the ocean unexplained by SST were likely due to the water vapor transport dominated by dynamic factors. With the increased SST, the moisture transported from oceans to interior land was likely redistributed and caused the complicated regional variability of precipitation. Moreover, the impacts of aerosols on cloud and precipitation varied with different pollution levels and different seasons. PMID:25033387

  18. Assessing Regional Scale Variability in Extreme Value Statistics Under Altered Climate Scenarios

    Energy Technology Data Exchange (ETDEWEB)

    Brunsell, Nathaniel [Univ. of Kansas, Lawrence, KS (United States); Mechem, David [Univ. of Kansas, Lawrence, KS (United States); Ma, Chunsheng [Wichita State Univ., KS (United States)

    2015-02-20

    Recent studies have suggested that low-frequency modes of climate variability can significantly influence regional climate. The climatology associated with extreme events has been shown to be particularly sensitive. This has profound implications for droughts, heat waves, and food production. We propose to examine regional climate simulations conducted over the continental United States by applying a recently developed technique which combines wavelet multi–resolution analysis with information theory metrics. This research is motivated by two fundamental questions concerning the spatial and temporal structure of extreme events. These questions are 1) what temporal scales of the extreme value distributions are most sensitive to alteration by low-frequency climate forcings and 2) what is the nature of the spatial structure of variation in these timescales? The primary objective is to assess to what extent information theory metrics can be useful in characterizing the nature of extreme weather phenomena. Specifically, we hypothesize that (1) changes in the nature of extreme events will impact the temporal probability density functions and that information theory metrics will be sensitive these changes and (2) via a wavelet multi–resolution analysis, we will be able to characterize the relative contribution of different timescales on the stochastic nature of extreme events. In order to address these hypotheses, we propose a unique combination of an established regional climate modeling approach and advanced statistical techniques to assess the effects of low-frequency modes on climate extremes over North America. The behavior of climate extremes in RCM simulations for the 20th century will be compared with statistics calculated from the United States Historical Climatology Network (USHCN) and simulations from the North American Regional Climate Change Assessment Program (NARCCAP). This effort will serve to establish the baseline behavior of climate extremes, the

  19. Naturally occuring nucleosome positioning signals in human exons and introns

    DEFF Research Database (Denmark)

    Baldi, Pierre; Brunak, Søren; Chauvin, Yves

    1996-01-01

    We describe the structural implications of a periodic pattern found in human exons and introns by hidden Markov models. We show that exons (besides the reading frame) have a specific sequential structure in the form of a pattern with triplet consensus non-T(A/T)G, and a minimal periodicity of rou...

  20. Regional variability of nitrate fluxes in the unsaturated zone and groundwater, Wisconsin, USA

    Science.gov (United States)

    Green, Christopher T.; Liao, Lixia; Nolan, Bernard T.; Juckem, Paul F.; Shope, Christopher L.; Tesoriero, Anthony J.; Jurgens, Bryant

    2018-01-01

    Process-based modeling of regional NO3− fluxes to groundwater is critical for understanding and managing water quality, but the complexity of NO3− reactive transport processes make implementation a challenge. This study introduces a regional vertical flux method (VFM) for efficient estimation of reactive transport of NO3− in the vadose zone and groundwater. The regional VFM was applied to 443 well samples in central-eastern Wisconsin. Chemical measurements included O2, NO3−, N2 from denitrification, and atmospheric tracers of groundwater age including carbon-14, chlorofluorocarbons, tritium, and tritiogenic helium. VFM results were consistent with observed chemistry, and calibrated parameters were in-line with estimates from previous studies. Results indicated that (1) unsaturated zone travel times were a substantial portion of the transit time to wells and streams (2) since 1945 fractions of applied N leached to groundwater have increased for manure-N, possibly due to increased injection of liquid manure, and decreased for fertilizer-N, and (3) under current practices and conditions, approximately 60% of the shallow aquifer will eventually be affected by downward migration of NO3−, with denitrification protecting the remaining 40%. Recharge variability strongly affected the unsaturated zone lag times and the eventual depth of the NO3− front. Principal components regression demonstrated that VFM parameters and predictions were significantly correlated with hydrogeochemical landscape features. The diverse and sometimes conflicting aspects of N management (e.g. limiting N volatilization versus limiting N losses to groundwater) warrant continued development of large-scale holistic strategies to manage water quality and quantity.

  1. Regional Variability of Nitrate Fluxes in the Unsaturated Zone and Groundwater, Wisconsin, USA

    Science.gov (United States)

    Green, Christopher T.; Liao, Lixia; Nolan, Bernard T.; Juckem, Paul F.; Shope, Christopher L.; Tesoriero, Anthony J.; Jurgens, Bryant C.

    2018-01-01

    Process-based modeling of regional NO3- fluxes to groundwater is critical for understanding and managing water quality, but the complexity of NO3- reactive transport processes makes implementation a challenge. This study introduces a regional vertical flux method (VFM) for efficient estimation of reactive transport of NO3- in the vadose zone and groundwater. The regional VFM was applied to 443 well samples in central-eastern Wisconsin. Chemical measurements included O2, NO3-, N2 from denitrification, and atmospheric tracers of groundwater age including carbon-14, chlorofluorocarbons, tritium, and tritiogenic helium. VFM results were consistent with observed chemistry, and calibrated parameters were in-line with estimates from previous studies. Results indicated that (1) unsaturated zone travel times were a substantial portion of the transit time to wells and streams, (2) since 1945 fractions of applied N leached to groundwater have increased for manure-N, possibly due to increased injection of liquid manure, and decreased for fertilizer-N, and (3) under current practices and conditions, approximately 60% of the shallow aquifer will eventually be affected by downward migration of NO3-, with denitrification protecting the remaining 40%. Recharge variability strongly affected the unsaturated zone lag times and the eventual depth of the NO3- front. Principal components regression demonstrated that VFM parameters and predictions were significantly correlated with hydrogeochemical landscape features. The diverse and sometimes conflicting aspects of N management (e.g., limiting N volatilization versus limiting N losses to groundwater) warrant continued development of large-scale holistic strategies to manage water quality and quantity.

  2. Widespread evolutionary conservation of alternatively spliced exons in caenorhabditis

    DEFF Research Database (Denmark)

    Irimia, Manuel; Rukov, Jakob L; Penny, David

    2007-01-01

    Alternative splicing (AS) contributes to increased transcriptome and proteome diversity in various eukaryotic lineages. Previous studies showed low levels of conservation of alternatively spliced (cassette) exons within mammals and within dipterans. We report a strikingly different pattern...... in Caenorhabditis nematodes-more than 92% of cassette exons from Caenorhabditis elegans are conserved in Caenorhabditis briggsae and/or Caenorhabditis remanei. High levels of conservation extend to minor-form exons (present in a minority of transcripts) and are particularly pronounced for exons showing complex...... patterns of splicing. The functionality of the vast majority of cassette exons is underscored by various other features. We suggest that differences in conservation between lineages reflect differences in levels of functionality and further suggest that these differences are due to differences in intron...

  3. Climate and climate variability of the wind power resources in the Great Lakes region of the United States

    Science.gov (United States)

    X. Li; S. Zhong; X. Bian; W.E. Heilman

    2010-01-01

    The climate and climate variability of low-level winds over the Great Lakes region of the United States is examined using 30 year (1979-2008) wind records from the recently released North American Regional Reanalysis (NARR), a three-dimensional, high-spatial and temporal resolution, and dynamically consistent climate data set. The analyses focus on spatial distribution...

  4. Self-organizing map network-based precipitation regionalization for the Tibetan Plateau and regional precipitation variability

    Science.gov (United States)

    Wang, Nini; Yin, Jianchuan

    2017-12-01

    A precipitation-based regionalization for the Tibetan Plateau (TP) was investigated for regional precipitation trend analysis and frequency analysis using data from 1113 grid points covering the period 1900-2014. The results utilizing self-organizing map (SOM) network suggest that four clusters of precipitation coherent zones can be identified, including the southwestern edge, the southern edge, the southeastern region, and the north central region. Regionalization results of the SOM network satisfactorily represent the influences of the atmospheric circulation systems such as the East Asian summer monsoon, the south Asian summer monsoon, and the mid-latitude westerlies. Regionalization results also well display the direct impacts of physical geographical features of the TP such as orography, topography, and land-sea distribution. Regional-scale annual precipitation trend as well as regional differences of annual and seasonal total precipitation were investigated by precipitation index such as precipitation concentration index (PCI) and Standardized Anomaly Index (SAI). Results demonstrate significant negative long-term linear trends in southeastern TP and the north central part of the TP, indicating arid and semi-arid regions in the TP are getting drier. The empirical mode decomposition (EMD) method shows an evolution of the main cycle with 4 and 12 months for all the representative grids of four sub-regions. The cross-wavelet analysis suggests that predominant and effective period of Indian Ocean Dipole (IOD) on monthly precipitation is around ˜12 months, except for the representative grid of the northwestern region.

  5. Coupled ocean-atmosphere surface variability and its climate impacts in the tropical Atlantic region

    Science.gov (United States)

    Fontaine, B.; Janicot, Serge; Roucou, P.

    This study examines time evolution and statistical relationships involving the two leading ocean-atmosphere coupled modes of variability in the tropical Atlantic and some climate anomalies over the tropical 120°W-60°W region using selected historical files (75-y near global SSTs and precipitation over land), more recent observed data (30-y SST and pseudo wind stress in the tropical Atlantic) and reanalyses from the US National Centers for Environmental Prediction (NCEP/NCAR) reanalysis System on the period 1968-1997: surface air temperature, sea level pressure, moist static energy content at 850 hPa, precipitable water and precipitation. The first coupled mode detected through singular value decomposition of the SST and pseudo wind-stress data over the tropical Atlantic (30°N-20°S) expresses a modulation in the thermal transequatorial gradient of SST anomalies conducted by one month leading wind-stress anomalies mainly in the tropical north Atlantic during northern winter and fall. It features a slight dipole structure in the meridional plane. Its time variability is dominated by a quasi-decadal signal well observed in the last 20-30 ys and, when projected over longer-term SST data, in the 1920s and 1930s but with shorter periods. The second coupled mode is more confined to the south-equatorial tropical Atlantic in the northern summer and explains considerably less wind-stress/SST cross-covariance. Its time series features an interannual variability dominated by shorter frequencies with increased variance in the 1960s and 1970s before 1977. Correlations between these modes and the ENSO-like Nino3 index lead to decreasing amplitude of thermal anomalies in the tropical Atlantic during warm episodes in the Pacific. This could explain the nonstationarity of meridional anomaly gradients on seasonal and interannual time scales. Overall the relationships between the oceanic component of the coupled modes and the climate anomaly patterns denote thermodynamical

  6. Targeted Exon Skipping to Address “Leaky” Mutations in the Dystrophin Gene

    Directory of Open Access Journals (Sweden)

    Sue Fletcher

    2012-01-01

    Full Text Available Protein-truncating mutations in the dystrophin gene lead to the progressive muscle wasting disorder Duchenne muscular dystrophy, whereas in-frame deletions typically manifest as the milder allelic condition, Becker muscular dystrophy. Antisense oligomer-induced exon skipping can modify dystrophin gene expression so that a disease-associated dystrophin pre-mRNA is processed into a Becker muscular dystrophy-like mature transcript. Despite genomic deletions that may encompass hundreds of kilobases of the gene, some dystrophin mutations appear “leaky”, and low levels of high molecular weight, and presumably semi-functional, dystrophin are produced. A likely causative mechanism is endogenous exon skipping, and Duchenne individuals with higher baseline levels of dystrophin may respond more efficiently to the administration of splice-switching antisense oligomers. We optimized excision of exons 8 and 9 in normal human myoblasts, and evaluated several oligomers in cells from eight Duchenne muscular dystrophy patients with deletions in a known “leaky” region of the dystrophin gene. Inter-patient variation in response to antisense oligomer induced skipping in vitro appeared minimal. We describe oligomers targeting exon 8, that unequivocally increase dystrophin above baseline in vitro, and propose that patients with leaky mutations are ideally suited for participation in antisense oligomer mediated splice-switching clinical studies.

  7. Duchenne muscular dystrophy in a female with compound heterozygous contiguous exon deletions.

    Science.gov (United States)

    Takeshita, Eri; Minami, Narihiro; Minami, Kumiko; Suzuki, Mikiya; Awashima, Takeya; Ishiyama, Akihiko; Komaki, Hirofumi; Nishino, Ichizo; Sasaki, Masayuki

    2017-06-01

    Females with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) mutations rarely exhibit clinical symptoms from childhood, although potential mechanisms for symptoms associated with DMD and BMD in females have been reported. We report the case of a female DMD patient with a clinical course indistinguishable from that of a male DMD patient, and who possessed compound heterozygous contiguous exon deletions in the dystrophin gene. She exhibited Gowers' sign, calf muscle hypertrophy, and a high serum creatine kinase level at 2 years. Her muscle pathology showed most of the fibers were negative for dystrophin immunohistochemical staining. She lost ambulation at 11 years. Multiplex ligation-dependent probe amplification analysis of this gene detected one copy of exons 48-53; she was found to be a BMD carrier with an in-frame deletion. Messenger RNA from her muscle demonstrated out-of-frame deletions of exons 48-50 and 51-53 occurring on separate alleles. Genomic DNA from her lymphocytes demonstrated the accurate deletion region on each allele. To our knowledge, this is the first report on a female patient possessing compound heterozygous contiguous exon deletions in the dystrophin gene, leading to DMD. Copyright © 2017 Elsevier B.V. All rights reserved.

  8. Interannual variability in the atmospheric CO2 rectification over a boreal forest region

    Science.gov (United States)

    Chen, Baozhang; Chen, Jing M.; Worthy, Douglas E. J.

    2005-08-01

    Ecosystem CO2 exchange with the atmosphere and the planetary boundary layer (PBL) dynamics are correlated diurnally and seasonally. The strength of this kind of covariation is quantified as the rectifier effect, and it affects the vertical gradient of CO2 and thus the global CO2 distribution pattern. An 11-year (1990-1996, 1999-2002), continuous CO2 record from Fraserdale, Ontario (49°52'29.9″N, 81°34'12.3″W), along with a coupled vertical diffusion scheme (VDS) and ecosystem model named Boreal Ecosystem Productivity Simulator (BEPS), are used to investigate the interannual variability of the rectifier effect over a boreal forest region. The coupled model performed well (r2 = 0.70 and 0.87, at 40 m at hourly and daily time steps, respectively) in simulating CO2 vertical diffusion processes. The simulated annual atmospheric rectifier effect varies from 3.99 to 5.52 ppm, while the diurnal rectifying effect accounted for about a quarter of the annual total (22.8˜28.9%).The atmospheric rectification of CO2 is not simply influenced by terrestrial source and sink strengths, but by seasonal and diurnal variations in the land CO2 flux and their interaction with PBL dynamics. Air temperature and moisture are found to be the dominant climatic factors controlling the rectifier effect. The annual rectifier effect is highly correlated with annual mean temperature (r2 = 0.84), while annual mean air relative humidity can explain 51% of the interannual variation in rectification. Seasonal rectifier effect is also found to be more sensitive to climate variability than diurnal rectifier effect.

  9. Adaptation of rainfed agriculture to climatic variability in the Mixteca Alta Region of Oaxaca, Mexico

    Science.gov (United States)

    Rogé, P.; Friedman, A. R.; Astier, M.; Altieri, M.

    2015-12-01

    The traditional management systems of the Mixteca Alta Region of Oaxaca, Mexico offer historical lessons about resilience to climatic variability. We interviewed small farmers to inquire about the dynamics of abandonment and persistence of a traditional management systems. We interpret farmers' narratives from a perspective of general agroecological resilience. In addition, we facilitated workshops in small farmers described their adaptation to past climate challenges and identified 14 indicators that they subsequently used to evaluate the condition of their agroecosystems. The most recent years presented increasingly extreme climatic and socioeconomic hardships: increased temperatures, delayed rainy seasons, reduced capacity of soils to retain soil moisture, changing cultural norms, and reduced rural labor. Farmers reported that their cropping systems were changing for multiple reasons: more drought, later rainfall onset, decreased rural labor, and introduced labor-saving technologies. Examination of climate data found that farmers' climate narratives were largely consistent with the observational record. There have been increases in temperature and rainfall intensity, and an increase in rainfall seasonality that may be perceived as later rainfall onset. Farmers ranked landscape-scale indicators as more marginal than farmer management or soil quality indicators. From this analysis, farmers proposed strategies to improve the ability of their agroecosystems to cope with climatic variability. Notably, they recognized that social organizing and education are required for landscape-level indicators to be improved. Transformative change is required to develop novel cropping systems and complementary activities to agriculture that will allow for farming to be sustained in the face of these challenges. Climate change adaptation by small farmers involves much more than just a set of farming practices, but also community action to tackle collective problems.

  10. Seasonal and Intraseasonal Variability of Mesoscale Convective Systems over the South Asian Monsoon Region

    Energy Technology Data Exchange (ETDEWEB)

    Virts, Katrina S.; Houze, Robert A.

    2016-12-01

    Seasonal and intraseasonal differences in mesoscale convective systems (MCSs) over South Asia are examined using A-Train satellites, a ground-based lightning network, and reanalysis fields. Pre-monsoon (April-May) MCSs occur primarily over Bangladesh and the eastern Bay of Bengal. During the monsoon (June-September), small MCSs occur over the Meghalaya Plateau and northeast Himalayan notch, while large and connected MCSs are most widespread over the Bay of Bengal. Monsoon MCSs produce less lightning and exhibit more extensive stratiform and anvil reflectivity structures in CloudSat observations than do pre-monsoon MCSs. During the monsoon season, Bay of Bengal and Meghalaya Plateau MCSs vary with the 30-60 day northward-propagating intraseasonal oscillation, while northeast Himalayan notch MCSs are associated with weak large-scale anomalies but locally enhanced CAPE. During intraseasonal active periods, a zone of enhanced large and connected MCSs, precipitation, and lightning extends from the northeastern Arabian Sea southeast over India and the Bay of Bengal, flanked by suppressed anomalies. Spatial variability is observed within this enhancement zone: lightning is most enhanced where MCSs are less enhanced, and vice versa. Reanalysis composites indicate that Bay of Bengal MCSs are associated with monsoon depressions, which are frequent during active monsoon periods, while Meghalaya Plateau MCSs are most frequent at the end of break periods, as anomalous southwesterly winds strengthen moist advection toward the terrain. Over both regions, MCSs exhibit more extensive stratiform and anvil regions and less lightning when the large-scale environment is moister, and vice versa.

  11. Singular vector decomposition of the internal variability of the Canadian Regional Climate Model

    Energy Technology Data Exchange (ETDEWEB)

    Diaconescu, Emilia Paula; Laprise, Rene [University of Quebec at Montreal (UQAM), Department of Earth and Atmospheric Sciences, Canadian Network for Regional Climate Modelling and Diagnostics, P.O. Box 8888, Montreal, QC (Canada); Centre ESCER (Etude et Simulation du Climat a l' Echelle Regionale), Montreal, QC (Canada); Zadra, Ayrton [University of Quebec at Montreal (UQAM), Department of Earth and Atmospheric Sciences, Canadian Network for Regional Climate Modelling and Diagnostics, P.O. Box 8888, Montreal, QC (Canada); Environment Canada, Meteorological Research Division, Montreal, QC (Canada); Centre ESCER (Etude et Simulation du Climat a l' Echelle Regionale), Montreal, QC (Canada)

    2012-03-15

    Previous studies have shown that Regional Climate Models (RCM) internal variability (IV) fluctuates in time depending on synoptic events. This study focuses on the physical understanding of episodes with rapid growth of IV. An ensemble of 21 simulations, differing only in their initial conditions, was run over North America using version 5 of the Canadian RCM (CRCM). The IV is quantified in terms of energy of CRCM perturbations with respect to a reference simulation. The working hypothesis is that IV is arising through rapidly growing perturbations developed in dynamically unstable regions. If indeed IV is triggered by the growth of unstable perturbations, a large proportion of the CRCM perturbations must project onto the most unstable singular vectors (SVs). A set of ten SVs was computed to identify the orthogonal set of perturbations that provide the maximum growth with respect to the dry total-energy norm during the course of the CRCM ensemble of simulations. CRCM perturbations were then projected onto the subspace of SVs. The analysis of one episode of rapid growth of IV is presented in detail. It is shown that a large part of the IV growth is explained by initially small-amplitude unstable perturbations represented by the ten leading SVs, the SV subspace accounting for over 70% of the CRCM IV growth in 36 h. The projection on the leading SV at final time is greater than the projection on the remaining SVs and there is a high similarity between the CRCM perturbations and the leading SV after 24-36 h tangent-linear model integration. The vertical structure of perturbations revealed that the baroclinic conversion is the dominant process in IV growth for this particular episode. (orig.)

  12. Phase Variability of the Recent Climate in the North Atlantic Region

    Science.gov (United States)

    Serykh, Ilya; Anisimov, Mikhail; Byshev, Vladimir; Neiman, Victor; Romanov, Juri; Sidorova, Alexandra

    2014-05-01

    The atmospheric pressure and near-surface temperature differences between the Azores High and the Icelandic Low for the period of 1900-2012 within the spatial-temporal average-out (20º latitude, 20º longitude and 12 years) were considered. The secular term of phase states of the system under consideration was found to divide into three non-intersecting subsets. Each of that was put in consequence with one of three climatic scenarios related to the periods of 1905-1935 (relatively warm phase), 1940-1970 (colder phase) and 1980-2000 (warmer phase). A life time of such a scenario lasted about 20-35 years, and the transition from one scenario to another covered 4-6 years, i.e. it run comparatively quickly. The revealed non-overlapping sub-aggregates of the thermodynamic indices related to each particular climate scenario gave an idea to follow the circulation peculiarities and the interrelated temperature differences within the limits of the Northern Atlantic ocean-atmosphere regional system. The results of this analysis bear evidence that the most probable intermittent strengthening and weakening of Hadley and Ferrell circulations occurred there in coincided phase. The analogous character of the climate system behavior was also detected in some other regional atmospheric activity centers that can be considered as a witness on the global nature of the detected phase type of modern climate inter-decadal variability. Hence, we have the grounds to suppose that mentioned above the short-period inter-decadal excitations of the modern climate have a global nature and appears everywhere. Finally, the attention was paid to the fact that at the early XXI century the thermodynamic state of the Northern Atlantic regional climate system has shown a tendency to face towards the situation, similar to the cooler scenario of the 1940-1970. We used the heat content of upper 700m Atlantic Ocean layer data from NODC to calculate its anomalies for the periods of 1955-1970, 1980-2000 and

  13. Primer sets for cloning the human repertoire of T cell Receptor Variable regions

    Directory of Open Access Journals (Sweden)

    Santoro Claudio

    2008-08-01

    Full Text Available Abstract Background Amplification and cloning of naïve T cell Receptor (TR repertoires or antigen-specific TR is crucial to shape immune response and to develop immuno-based therapies. TR variable (V regions are encoded by several genes that recombine during T cell development. The cloning of expressed genes as large diverse libraries from natural sources relies upon the availability of primers able to amplify as many V genes as possible. Results Here, we present a list of primers computationally designed on all functional TR V and J genes listed in the IMGT®, the ImMunoGeneTics information system®. The list consists of unambiguous or degenerate primers suitable to theoretically amplify and clone the entire TR repertoire. We show that it is possible to selectively amplify and clone expressed TR V genes in one single RT-PCR step and from as little as 1000 cells. Conclusion This new primer set will facilitate the creation of more diverse TR libraries than has been possible using currently available primer sets.

  14. Primer sets for cloning the human repertoire of T cell Receptor Variable regions.

    Science.gov (United States)

    Boria, Ilenia; Cotella, Diego; Dianzani, Irma; Santoro, Claudio; Sblattero, Daniele

    2008-08-29

    Amplification and cloning of naïve T cell Receptor (TR) repertoires or antigen-specific TR is crucial to shape immune response and to develop immuno-based therapies. TR variable (V) regions are encoded by several genes that recombine during T cell development. The cloning of expressed genes as large diverse libraries from natural sources relies upon the availability of primers able to amplify as many V genes as possible. Here, we present a list of primers computationally designed on all functional TR V and J genes listed in the IMGT, the ImMunoGeneTics information system. The list consists of unambiguous or degenerate primers suitable to theoretically amplify and clone the entire TR repertoire. We show that it is possible to selectively amplify and clone expressed TR V genes in one single RT-PCR step and from as little as 1000 cells. This new primer set will facilitate the creation of more diverse TR libraries than has been possible using currently available primer sets.

  15. Regional Variability of Cd, Hg, Pb and C Concentrations in Different Horizons of Swedish Forest Soils

    International Nuclear Information System (INIS)

    Alriksson, A.

    2001-01-01

    Contents of cadmium (Cd), mercury (Hg), lead (Pb) and carbon(C) in the O, B and C horizons of podzolized forest soils in Sweden were surveyed. Concentrations and storage of Cd, Hg and Pb in the O and B horizons were high in southern Sweden and gradually decreased towards the north, though with considerable local variability. This pattern reflects the influence of anthropogenic emissions of these metals, as well as the effects of soil-forming processes. Parent till material, as represented by the C horizon concentration of the respective metal, accounted for little of the variation in metal concentration in the O horizon. For Cd and Pb, the correlations were not significant or slightly negative (R 2 = 0.12 and 0.09 respectively) depending on region, while for Hg the correlation was not significant or slightly positive (R 2 = 0.03 and 0.08). Furthermore, parent till material accounted for more of the variation in metal concentrations in the B horizons in the northern part of Sweden than in the middle and southernmost parts, where the concentration of total carbon had more influence. The correlation between the metal concentrations in the B and C horizon was strongest for Pb (R 2 = 0.63 and 0.36 in the two northernmost regions), lower for Cd (R 2 = 0.19 and 0.16) and not significant for Hg. For all soil horizons, total C concentration accounted for much of the variation in Hg concentration in particular (O-horizon R 2 = 0.15-0.69, B horizon R 2 = 0.36-0.50, C horizon R 2 = 0.23-0.50 and ns in one region). Ratios of metal concentrations between the B and C horizons were highest for Hg(maximum value of 30), indicating a relatively larger addition or retention of Hg compared to Cd and Pb (maximum value of 10)in the B horizon. This study indicate that factors other than parent material account for the large scale variation in O horizon concentrations of metals but patterns correspond well with those of atmospheric deposition of heavy metals and acidifying substances

  16. Germline mutations of BRCA1 gene exon 11 are not associated with platinum response neither with survival advantage in patients with primary ovarian cancer: understanding the clinical importance of one of the biggest human exons. A study of the Tumor Bank Ovarian Cancer (TOC) Consortium.

    Science.gov (United States)

    Dimitrova, Desislava; Ruscito, Ilary; Olek, Sven; Richter, Rolf; Hellwag, Alexander; Türbachova, Ivana; Woopen, Hannah; Baron, Udo; Braicu, Elena Ioana; Sehouli, Jalid

    2016-09-01

    Germline mutations in BRCA1 gene have been reported in up to 20 % of epithelial ovarian cancer (EOC) patients. Distinct clinical characteristics have been attributed to this special EOC population. We hypothesized that mutations in different BRCA1 gene exons may differently affect the clinical course of the disease. The aim of this study was to analyze, in a large cohort of primary EOCs, the clinical impact of mutations in BRCA1 gene exon 11, the largest exon of the gene sequence encoding the 60 % of BRCA1 protein. Two hundred sixty-three primary EOC patients, treated between 2000 and 2008 at Charité University Hospital of Berlin, were included. Patients' blood samples were obtained from the Tumor Ovarian Cancer (TOC) Network ( www.toc-network.de ). Direct sequencing of BRCA1 gene exon 11 was performed for each patient to detect mutations. Based on their BRCA1 exon 11 mutational status, patients were compared regarding clinico-pathological variables and survival. Mutations in BRCA1 exon 11 were found in 18 out of 263 patients (6.8 %). Further 10/263 (3.8 %) cases showed variants of uncertain significance (VUS). All exon 11 BRCA1-positive tumors (100 %) were Type 2 ovarian carcinomas (p = 0.05). Age at diagnosis was significantly younger in Type 2 exon 11 mutated patients (p = 0.01). On multivariate analysis, BRCA1 exon 11 mutational status was not found to be an independent predictive factor for optimal cytoreduction, platinum response, or survival. Mutations in BRCA1 gene exon 11 seem to predispose women to exclusively develop a Type 2 ovarian cancer at younger age. Exon 11 BRCA1-mutated EOC patients showed distinct clinico-pathological features but similar clinical outcome with respect to sporadic EOC patients.

  17. SNP discovery in candidate adaptive genes using exon capture in a free-ranging alpine ungulate

    Science.gov (United States)

    Roffler, Gretchen H.; Amish, Stephen J.; Smith, Seth; Cosart, Ted F.; Kardos, Marty; Schwartz, Michael K.; Luikart, Gordon

    2016-01-01

    Identification of genes underlying genomic signatures of natural selection is key to understanding adaptation to local conditions. We used targeted resequencing to identify SNP markers in 5321 candidate adaptive genes associated with known immunological, metabolic and growth functions in ovids and other ungulates. We selectively targeted 8161 exons in protein-coding and nearby 5′ and 3′ untranslated regions of chosen candidate genes. Targeted sequences were taken from bighorn sheep (Ovis canadensis) exon capture data and directly from the domestic sheep genome (Ovis aries v. 3; oviAri3). The bighorn sheep sequences used in the Dall's sheep (Ovis dalli dalli) exon capture aligned to 2350 genes on the oviAri3 genome with an average of 2 exons each. We developed a microfluidic qPCR-based SNP chip to genotype 476 Dall's sheep from locations across their range and test for patterns of selection. Using multiple corroborating approaches (lositan and bayescan), we detected 28 SNP loci potentially under selection. We additionally identified candidate loci significantly associated with latitude, longitude, precipitation and temperature, suggesting local environmental adaptation. The three methods demonstrated consistent support for natural selection on nine genes with immune and disease-regulating functions (e.g. Ovar-DRA, APC, BATF2, MAGEB18), cell regulation signalling pathways (e.g. KRIT1, PI3K, ORRC3), and respiratory health (CYSLTR1). Characterizing adaptive allele distributions from novel genetic techniques will facilitate investigation of the influence of environmental variation on local adaptation of a northern alpine ungulate throughout its range. This research demonstrated the utility of exon capture for gene-targeted SNP discovery and subsequent SNP chip genotyping using low-quality samples in a nonmodel species.

  18. Characterization of major histocompatibility complex (MHC DRB exon 2 and DRA exon 3 fragments in a primary terrestrial rabies vector (Procyon lotor.

    Directory of Open Access Journals (Sweden)

    Sarrah Castillo

    Full Text Available The major histocompatibility complex (MHC presents a unique system to explore links between genetic diversity and pathogens, as diversity within MHC is maintained in part by pathogen driven selection. While the majority of wildlife MHC studies have investigated species that are of conservation concern, here we characterize MHC variation in a common and broadly distributed species, the North American raccoon (Procyon lotor. Raccoons host an array of broadly distributed wildlife diseases (e.g., canine distemper, parvovirus and raccoon rabies virus and present important human health risks as they persist in high densities and in close proximity to humans and livestock. To further explore how genetic variation influences the spread and maintenance of disease in raccoons we characterized a fragment of MHC class II DRA exon 3 (250 bp and DRB exon 2 (228 bp. MHC DRA was found to be functionally monomorphic in the 32 individuals screened; whereas DRB exon 2 revealed 66 unique alleles among the 246 individuals screened. Between two and four alleles were observed in each individual suggesting we were amplifying a duplicated DRB locus. Nucleotide differences between DRB alleles ranged from 1 to 36 bp (0.4-15.8% divergence and translated into 1 to 21 (1.3-27.6% divergence amino acid differences. We detected a significant excess of nonsynonymous substitutions at the peptide binding region (P = 0.005, indicating that DRB exon 2 in raccoons has been influenced by positive selection. These data will form the basis of continued analyses into the spatial and temporal relationship of the raccoon rabies virus and the immunogenetic response in its primary host.

  19. Modulation of extremes in the Atlantic region by modes of climate variability/change: A mechanistic coupled regional model study

    Energy Technology Data Exchange (ETDEWEB)

    Saravanan, Ramalingam [Texas A & M Univ., College Station, TX (United States)

    2015-01-09

    During the course of this project, we have accomplished the following: 1) Explored the parameter space of component models to minimize regional model bias 2) Assessed the impact of air-sea interaction on hurricanes, focusing in particular on the role of the oceanic barrier layer 3) Contributed to the activities of the U.S. CLIVAR Hurricane Working Group 4) Assessed the impact of lateral and lower boundary conditions on extreme flooding events in the U.S. Midwest in regional model simulations 5) Analyzed the concurrent impact of El Niño-Southern Oscillation and Atlantic Meridional Mode on Atlantic Hurricane activity using observations and regional model simulations

  20. Lack of association of DRD4 exon 3 VNTR genotype with reactivity to dynamic smoking cues in movies

    NARCIS (Netherlands)

    Lochbühler, K.C.; Verhagen, M.; Munafò, M.R.; Engels, R.C.M.E.

    2013-01-01

    Background: The objective of the present study was first to examine whether dynamic smoking cues in movies trigger craving, and second to explore whether the DRD4 48 bp variable number of tandem repeat (VNTR) exon 3 genotype modifies this relationship. Using an experimental design, daily adult

  1. Exon sequencing of PKD1 gene in an Iranian patient with autosomal-dominant polycystic kidney disease.

    Science.gov (United States)

    Hafizi, Atousa; Khatami, Saeid Reza; Galehdari, Hamid; Shariati, Gholamreza; Saberi, Ali Hossein; Hamid, Mohammad

    2014-07-01

    Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic kidney disorders with the incidence of 1 in 1,000 births. ADPKD is genetically heterogeneous with two genes identified: PKD1 (16p13.3, 46 exons) and PKD2 (4q21, 15 exons). Eighty five percent of the patients with ADPKD have at least one mutation in the PKD1 gene. Genetic studies have demonstrated an important allelic variability among patients, but very few data are known about the genetic variation among Iranian populations. In this study, exon direct sequencing of PKD1 was performed in a seven-year old boy with ADPKD and in his parents. The patient's father was ADPKD who was affected without any kidney dysfunction, and the patient's mother was congenitally missing one kidney. Molecular genetic testing found a mutation in all three members of this family. It was a missense mutation GTG>ATG at position 3057 in exon 25 of PKD1. On the other hand, two novel missense mutations were reported just in the 7-year-old boy: ACA>GCA found in exon 15 at codon 2241 and CAC>AAC found in exon 38 at codon 3710. For checking the pathogenicity of these mutations, exons 15, 25, and 38 of 50 unrelated normal cases were sequenced. our findings suggested that GTG>ATG is a polymorphism with high frequency (60%) as well as ACA>GCA and CAC>AAC are polymorphisms with frequencies of 14% and 22%, respectively in the population of Southwest Iran.

  2. Variability of Mediterranean aerosols properties at three regional background sites in the western Mediterranean Basin

    Science.gov (United States)

    Sicard, Michaël.; Totems, Julien; Barragan, Rubén.; Dulac, François; Mallet, Marc; Comerón, Adolfo; Alados-Arboledas, Lucas; Augustin, Patrick; Chazette, Patrick; Léon, Jean-François; Olmo-Reyes, Francisco José; Renard, Jean-Baptiste; Rocadenbosch, Francesc

    2014-10-01

    In the framework of the project ChArMEx (the Chemistry-Aerosol Mediterranean Experiment, http://charmex.lsce.ipsl.fr/), the variability of aerosol optical, microphysical and radiative properties is examined in three regional background sites on a southwest - northeast (SW-NE) straight line in the middle of the western Mediterranean Basin (WMB). The three sites are on the northward transport pathway of African dust: - Ersa, Corsica Island, France (43.00ºN, 9.36ºW, 80 m a.s.l), - Palma de Mallorca, Mallorca Island, Spain (39.55ºN, 2.62ºE, 10 m a.s.l) and - Alborán, Alboran Island, Spain (35.94ºN, 3.04ºW, 15 m a.s.l). AERONET (AErosol RObotic NETwork) sun-photometer products are mainly used. A preliminary analysis shows that at Ersa and Palma sites the annual aerosol optical depth (AOD) has a similar trend with a peak around 0.2 in July. The winter/spring AOD is lower in Palma than in Ersa, while it is reverse in summer/autumn. The aerosol particle size distribution (and the coarse mode fraction) shows clearly the SW-NE gradient with a decreasing coarse mode peak (and a decreasing coarse mode fraction from 0.5 - 0.35 - 0.2 in July) along the axis Alborán - Palma de Mallorca - Ersa. In addition to the seasonal and annual variability analysis, the analysis of AERONET products is completed with a large variety of ground-based and sounding balloons remote sensing and in situ instruments during the Special Observation Period (SOP) of the ADRIMED campaign in June 2013. The second part of the presentation will focus on the comparison of the observations at Palma de Mallorca and Ersa of the same long-range transported airmasses. The observations include lidar vertical profiles, balloon borne OPC (Optical Particle Counter) and MSG/SEVIRI AOD, among others.

  3. Variability and change of sea level and its components in the Indo-Pacific region during the altimetry era

    Science.gov (United States)

    Wu, Quran; Zhang, Xuebin; Church, John A.; Hu, Jianyu

    2017-03-01

    Previous studies have shown that regional sea level exhibits interannual and decadal variations associated with the modes of climate variability. A better understanding of those low-frequency sea level variations benefits the detection and attribution of climate change signals. Nonetheless, the contributions of thermosteric, halosteric, and mass sea level components to sea level variability and trend patterns remain unclear. By focusing on signals associated with dominant climate modes in the Indo-Pacific region, we estimate the interannual and decadal fingerprints and trend of each sea level component utilizing a multivariate linear regression of two adjoint-based ocean reanalyses. Sea level interannual, decadal, and trend patterns primarily come from thermosteric sea level (TSSL). Halosteric sea level (HSSL) is of regional importance in the Pacific Ocean on decadal time scale and dominates sea level trends in the northeast subtropical Pacific. The compensation between TSSL and HSSL is identified in their decadal variability and trends. The interannual and decadal variability of temperature generally peak at subsurface around 100 m but that of salinity tend to be surface-intensified. Decadal temperature and salinity signals extend deeper into the ocean in some regions than their interannual equivalents. Mass sea level (MassSL) is critical for the interannual and decadal variability of sea level over shelf seas. Inconsistencies exist in MassSL trend patterns among various estimates. This study highlights regions where multiple processes work together to control sea level variability and change. Further work is required to better understand the interaction of different processes in those regions.

  4. Hypertension and Biliary Ductopenia in a Patient with Duplication of Exon 6 of the Gene

    Directory of Open Access Journals (Sweden)

    J. Uberos

    2012-01-01

    Full Text Available We describe a neonatal patient with biliary ductopenia featuring duplication of exon 6 of the JAG1 gene. Facial alterations were observed, consisting of a prominent forehead, sunken eyes, upward slanting palpebral fissures, hypertelorism, flat nasal root and prominent chin. From birth, these were accompanied by the development of haematuria and renal failure and by renal Doppler findings indicative of peripheral renal artery stenosis. JAG1 gene mutations on chromosome 20 have been associated with various anomalies, including biliary cholestasis, vertebral abnormalities, eye disorders, heart defects and facial dysmorphia. This syndrome, first described by Alagille, is an infrequent congenital disorder caused by a dominant autosomal inheritance with variable expressivity. Anatomopathological effects include the destruction and disappearance of hepatic bile ducts (ductopenia. The duplication of exon 6 of JAG1 has not previously been described as an alteration related to the Alagille syndrome with peripheral renal artery stenosis.

  5. Modeling the South American regional smoke plume: aerosol optical depth variability and surface shortwave flux perturbation

    Directory of Open Access Journals (Sweden)

    N. E. Rosário

    2013-03-01

    Full Text Available Intra-seasonal variability of smoke aerosol optical depth (AOD and downwelling solar irradiance at the surface during the 2002 biomass burning season in South America was modeled using the Coupled Chemistry-Aerosol-Tracers Transport model with the Brazilian developments on the Regional Atmospheric Modeling System (CCATT-BRAMS. Measurements of total and fine mode fraction (FMF AOD from the AErosol RObotic NETwork (AERONET and solar irradiance at the surface from the Solar Radiation Network (SolRad-NET were used to evaluate model results. In general, the major features associated with AOD evolution over the southern part of the Amazon basin and cerrado ecosystem are captured by the model. The main discrepancies were found for high aerosol loading events. In the northeastern portion of the Amazon basin the model systematically underestimated total AOD, as expected, since smoke contribution is not dominant as it is in the southern portion and emissions other than smoke were not considered in the simulation. Better agreement was obtained comparing the model results with observed FMF AOD, which pointed out the relevance of coarse mode aerosol emission in that region. Likewise, major discrepancies over cerrado during high AOD events were found to be associated with coarse mode aerosol omission in our model. The issue of high aerosol loading events in the southern part of the Amazon was related to difficulties in predicting the smoke AOD field, which was discussed in the context of emissions shortcomings. The Cuiabá cerrado site was the only one where the highest quality AERONET data were unavailable for both total and FMF AOD. Thus, lower quality data were used. Root-mean-square error (RMSE between the model and observed FMF AOD decreased from 0.34 to 0.19 when extreme AOD events (FMF AOD550 nm ≥ 1.0 and Cuiabá were excluded from the analysis. Downward surface solar irradiance comparisons also followed similar trends when extreme AOD were excluded

  6. Evaluating climate variables, indexes and thresholds governing Arctic urban sustainability: case study of Russian permafrost regions

    Science.gov (United States)

    Anisimov, O. A.; Kokorev, V.

    2013-12-01

    Addressing Arctic urban sustainability today forces planners to deal with the complex interplay of multiple factors, including governance and economic development, demography and migration, environmental changes and land use, changes in the ecosystems and their services, and climate change. While the latter can be seen as a factor that exacerbates the existing vulnerabilities to other stressors, changes in temperature, precipitation, snow, river and lake ice, and the hydrological regime also have direct implications for the cities in the North. Climate change leads to reduced demand for heating energy, on one hand, and heightened concerns about the fate of the infrastructure built upon thawing permafrost, on the other. Changes in snowfall are particularly important and have direct implications for the urban economy, as together with heating costs, expenses for snow removal from streets, airport runways, roofs and ventilation corridors underneath buildings erected on pile foundations on permafrost constitute the bulk of the city's maintenance budget. Many cities are located in river valleys and are prone to flooding that leads to enormous economic losses and casualties, including human deaths. The severity of the northern climate has direct implications for demographic changes governed by regional migration and labor flows. Climate could thus be viewed as an inexhaustible public resource that creates opportunities for sustainable urban development. Long-term trends show that climate as a resource is becoming more readily available in the Russian North, notwithstanding the general perception that globally climate change is one of the challenges facing humanity in the 21st century. In this study we explore the sustainability of the Arctic urban environment under changing climatic conditions. We identify key governing variables and indexes and study the thresholds beyond which changes in the governing climatic parameters have significant impact on the economy

  7. Decadal Trends and Variability of Tropospheric Ozone over Oil and Gas Regions over 2005 - 2015

    Science.gov (United States)

    Zhou, Y.; Mao, H.; Sive, B. C.

    2017-12-01

    Tropospheric ozone (O3), which is produced largely by photochemical oxidation of nitrogen oxides (NOx) and volatile organic compounds, is a serious and ubiquitous air pollutant with strong negative health effects. Recent technological innovations such as horizontal drilling and hydraulic fracturing have accelerated oil and natural gas production in the U.S. since 2005. The additional input of O3 precursors from expanding natural gas production might prolong the effort to comply the current O3 standard (70 ppbv). The objective of this study is to investigate the impact of oil and gas extractions on variability and long term trends of O3 in the intermountain west under varying meteorological conditions. We investigated long-term O3 trends at 13 rural sites, which were within 100 km of the shale play in the U.S. intermountain west. Significant decreasing trends (-0.35 - -3.38 ppbv yr-1) were found in seasonal O3 design values at six sites in spring, summer, or fall, while no trends were found in wintertime O3 at any sites. Wintertime O3 at each site showed strong and consistent interannual variation over 2006 - 2015, and was negatively correlated with the Arctic Oscillation (AO) Index. The negative correlation was a result of multiple factors, such as in situ O3 photochemical production, stratospheric intrusion, and transport from the Arctic and California. In summer, wildfire emissions were the dominate driver to the interannual variations of high percentiles O3 at each site, while meteorological conditions (i.e., temperature and relative humidity) determined the interannual variations of low percentiles O3. Box model simulations indicated that O3 production rates were 31.51 ppbv h-1 over winters of 2012 - 2014 and 32.12 ppbv h-1 in summer 2014 around shale gas extraction regions.

  8. Human heavy-chain variable region gene family nonrandomly rearranged in familial chronic lymphocytic leukemia

    International Nuclear Information System (INIS)

    Shen, A.; Humphries, C.; Tucker, P.; Blattner, F.

    1987-01-01

    The authors have identified a family of human immunoglobulin heavy-chain variable-region (V/sub H/) genes, one member of which is rearranged in two affected members of a family in which the father and four of five siblings developed chronic lymphocytic leukemia. Cloning and sequencing of the rearranged V/sub H/ genes from leukemic lymphocytes of three affected siblings showed that two siblings had rearranged V/sub H/ genes (V/sub H/TS1 and V/sub H/WS1) that were 90% homologous. The corresponding germ-line gene, V/sub H/251, was found to part of a small (four gene) V/sub H/ gene family, which they term V/sub H/V. The DNA sequence homology to V/sub H/WS1 (95%) and V/sub H/TS1 (88%) and identical restriction sites on the 5' side of V/sub H/ confirm that rearrangement of V/sub H/251 followed by somatic mutation produced the identical V/sub H/ gene rearrangements in the two siblings. V/sub H/TS1 is not a functional V/sub H/ gene; a functional V/sub H/ rearrangement was found on the other chromosome of this patient. The other two siblings had different V/sub H/ gene rearrangements. All used different diversity genes. Mechanisms proposed for nonrandom selection of a single V/sub H/ gene include developmental regulation of this V/sub H/ gene rearrangement or selection of a subpopulation of B cells in which this V/sub H/ has been rearranged

  9. Transforming p21 ras protein: flexibility in the major variable region linking the catalytic and membrane-anchoring domains

    DEFF Research Database (Denmark)

    Willumsen, B M; Papageorge, A G; Hubbert, N

    1985-01-01

    or increasing it to 50 amino acids has relatively little effect on the capacity of the gene to induce morphological transformation of NIH 3T3 cells. Assays of GTP binding, GTPase and autophosphorylating activities of such mutant v-rasH-encoded proteins synthesized in bacteria indicated that the sequences...... that is required for post-translational processing, membrane localization and transforming activity of the proteins. We have now used the viral oncogene (v-rasH) of Harvey sarcoma virus to study the major variable region by deleting or duplicating parts of the gene. Reducing this region to five amino acids...... that encode these biochemical activities are located upstream from the major variable region. In the context of transformation, we propose that the region of sequence heterogeneity serves principally to connect the N-terminal catalytic domain with amino acids at the C terminus that are required to anchor...

  10. Exon sequence requirements for excision in vivo of the bacterial group II intron RmInt1

    Directory of Open Access Journals (Sweden)

    Toro Nicolás

    2011-05-01

    Full Text Available Abstract Background Group II intron splicing proceeds through two sequential transesterification reactions in which the 5' and 3'-exons are joined together and the lariat intron is released. The intron-encoded protein (IEP assists the splicing of the intron in vivo and remains bound to the excised intron lariat RNA in a ribonucleoprotein particle (RNP that promotes intron mobility. Exon recognition occurs through base-pairing interactions between two guide sequences on the ribozyme domain dI known as EBS1 and EBS2 and two stretches of sequence known as IBS1 and IBS2 on the 5' exon, whereas the 3' exon is recognized through interaction with the sequence immediately upstream from EBS1 [(δ-δ' interaction (subgroup IIA] or with a nucleotide [(EBS3-IBS3 interaction (subgroup IIB and IIC] located in the coordination-loop of dI. The δ nucleotide is involved in base pairing with another intron residue (δ' in subgroup IIB introns and this interaction facilitates base pairing between the 5' exon and the intron. Results In this study, we investigated nucleotide requirements in the distal 5'- and 3' exon regions, EBS-IBS interactions and δ-δ' pairing for excision of the group IIB intron RmInt1 in vivo. We found that the EBS1-IBS1 interaction was required and sufficient for RmInt1 excision. In addition, we provide evidence for the occurrence of canonical δ-δ' pairing and its importance for the intron excision in vivo. Conclusions The excision in vivo of the RmInt1 intron is a favored process, with very few constraints for sequence recognition in both the 5' and 3'-exons. Our results contribute to understand how group II introns spread in nature, and might facilitate the use of RmInt1 in gene targeting.

  11. Searching for I-band variability in stars in the M/L spectral transition region

    Science.gov (United States)

    Ramsay, Gavin; Hakala, Pasi; Doyle, J. Gerry

    2015-10-01

    We report on I-band photometric observations of 21 stars with spectral types between M8 and L4 made using the Isaac Newton Telescope. The total amount of time for observations which had a cadence of test for photometric variability using the Kruskal-Wallis H-test and find that four sources (2MASS J10224821+5825453, 2MASS J07464256+2000321, 2MASS J16262034+3925190 and 2MASS J12464678+4027150) were found to be significantly variable at least on one epoch. Three of these sources are reported as photometrically variable for the first time. If we include sources which were deemed marginally variable, the number of variable sources is 6 (29 per cent). No flares were detected from any source. The percentage of sources which we found were variable is similar to previous studies. We summarize the mechanisms which have been put forward to explain the light curves of brown dwarfs.

  12. Hydroclimatic variability in the Lake Mondsee region and its relationships with large-scale climate anomaly patterns

    Science.gov (United States)

    Rimbu, Norel; Ionita, Monica; Swierczynski, Tina; Brauer, Achim; Kämpf, Lucas; Czymzik, Markus

    2017-04-01

    Flood triggered detrital layers in varved sediments of Lake Mondsee, located at the northern fringe of the European Alps (47°48'N,13°23'E), provide an important archive of regional hydroclimatic variability during the mid- to late Holocene. To improve the interpretation of the flood layer record in terms of large-scale climate variability, we investigate the relationships between observational hydrological records from the region, like the Mondsee lake level, the runoff of the lake's main inflow Griesler Ache, with observed precipitation and global climate patterns. The lake level shows a strong positive linear trend during the observational period in all seasons. Additionally, lake level presents important interannual to multidecadal variations. These variations are associated with distinct seasonal atmospheric circulation patterns. A pronounced anomalous anticyclonic center over the Iberian Peninsula is associated with high lake levels values during winter. This center moves southwestward during spring, summer and autumn. In the same time, a cyclonic anomaly center is recorded over central and western Europe. This anomalous circulation extends southwestward from winter to autumn. Similar atmospheric circulation patterns are associated with river runoff and precipitation variability from the region. High lake levels are associated with positive local precipitation anomalies in all seasons as well as with negative local temperature anomalies during spring, summer and autumn. A correlation analysis reveals that lake level, runoff and precipitation variability is related to large-scale sea surface temperature anomaly patterns in all seasons suggesting a possible impact of large-scale climatic modes, like the North Atlantic Oscillation and Atlantic Multidecadal Oscillation on hydroclimatic variability in the Lake Mondsee region. The results presented in this study can be used for a more robust interpretation of the long flood layer record from Lake Mondsee sediments

  13. Exon silencing by UAGG motifs in response to neuronal excitation.

    Directory of Open Access Journals (Sweden)

    Ping An

    2007-02-01

    Full Text Available Alternative pre-mRNA splicing plays fundamental roles in neurons by generating functional diversity in proteins associated with the communication and connectivity of the synapse. The CI cassette of the NMDA R1 receptor is one of a variety of exons that show an increase in exon skipping in response to cell excitation, but the molecular nature of this splicing responsiveness is not yet understood. Here we investigate the molecular basis for the induced changes in splicing of the CI cassette exon in primary rat cortical cultures in response to KCl-induced depolarization using an expression assay with a tight neuron-specific readout. In this system, exon silencing in response to neuronal excitation was mediated by multiple UAGG-type silencing motifs, and transfer of the motifs to a constitutive exon conferred a similar responsiveness by gain of function. Biochemical analysis of protein binding to UAGG motifs in extracts prepared from treated and mock-treated cortical cultures showed an increase in nuclear hnRNP A1-RNA binding activity in parallel with excitation. Evidence for the role of the NMDA receptor and calcium signaling in the induced splicing response was shown by the use of specific antagonists, as well as cell-permeable inhibitors of signaling pathways. Finally, a wider role for exon-skipping responsiveness is shown to involve additional exons with UAGG-related silencing motifs, and transcripts involved in synaptic functions. These results suggest that, at the post-transcriptional level, excitable exons such as the CI cassette may be involved in strategies by which neurons mount adaptive responses to hyperstimulation.

  14. Continental and Marine Environmental changes in Europe induced by Global Climate variability and Regional Palaeography Changes

    International Nuclear Information System (INIS)

    Popescu, S.M.

    2008-12-01

    dinoflagellate cyst records from DSDP Site 380 (7 - 4 Ma) were completed from 4 Ma to Present in order to evidence the impact of glacial-interglacial cycles over the regional vegetation and to reconstruct the climate variability for the last 7 Ma; d. I was the first to demonstrate the solar cycles forcing (Hale and Gleissberg cycles) on the regional vegetation (through the 'Thermophilus trees / Artemisia' ratio) since the Last Glacial Maximum were evidenced in cored sediments from the Black and Marmara seas (unpublished data), that is a unique outcome. Using the bio-metric approach on the dinoflagellate cysts in association with statistical analyses, I demonstrated that fluctuations in salinity are partially responsible for modifying size, shape and ornamentation of the cysts, providing the first reliable paleo-ecological and paleo-bio-geographic reconstructions of the brackish Paratethyan basins (Popescu et al., palynology, in press). Simultaneously, I performed experimental cultures on a living-dinoflagellate species (Scrippsiella trifida): suggested relationships between cyst morphological variations and stress under controlled salinity are confirmed by the preliminary results, while reproduction rate seems also modified (unpublished data). Hence, my palynological and biological expertise offers an exclusive tool for establishing a continuous high resolution chronology, paleo-climatic, paleo-bio-geographic and paleo-environmental reconstructions. This is particularly important for the basins impacted by important environmental changes, such as the Mediterranean and Black seas, the sediments of the latter being precisely dated for the first time by this approach. (author)

  15. The SRCR/SID region of DMBT1 defines a complex multi-allele system representing the major basis for its variability in cancer

    DEFF Research Database (Denmark)

    Mollenhauer, Jan; Müller, Hanna; Kollender, Gaby

    2002-01-01

    Deleted in malignant brain tumors 1 (DMBT1) at 10q25.3-q26.1 has been proposed as a candidate tumor-suppressor gene for brain and epithelial cancer. DMBT1 encodes a multifunctional mucin-like protein presumably involved in epithelial differentiation and protection. The gene consists of highly...... homologous and repeating exon and intron sequences. This specifically applies to the region coding for the repetitive scavenger receptor cysteine-rich (SRCR) domains and SRCR-interspersed domains (SIDs) that constitutes the major part of the gene. This particular structure may previously have interfered...... with the delineation of DMBT1 alterations in cancer. Uncovering these, however, is of mechanistic importance. By a combined approach, we conducted a detailed mutational analysis, starting from a panel of 51 tumors, including 46 tumor cell lines and five primary tumors. Alterations in the repetitive region were present...

  16. Identification and verification of hybridoma-derived monoclonal antibody variable region sequences using recombinant DNA technology and mass spectrometry

    Science.gov (United States)

    Antibody engineering requires the identification of antigen binding domains or variable regions (VR) unique to each antibody. It is the VR that define the unique antigen binding properties and proper sequence identification is essential for functional evaluation and performance of recombinant antibo...

  17. Characterization of Campylobacter jejuni applying flaA short variable region sequencing, multilocus sequencing and Fourier transform infrared spectroscopy

    DEFF Research Database (Denmark)

    Josefsen, Mathilde Hartmann; Bonnichsen, Lise; Larsson, Jonas

    flaA short variable region sequencing and phenetic Fourier transform infrared (FTIR) spectroscopy was applied on a collection of 102 Campylobacter jejuni isolated from continuous sampling of organic, free range geese and chickens. FTIR has been shown to serve as a valuable tool in typing...

  18. Relationship between Eurasian large-scale patterns and regional climate variability over the Black and Baltic Seas

    Energy Technology Data Exchange (ETDEWEB)

    Stankunavicius, G.; Pupienis, D. [Vilnius Univ. (Lithuania). Dept. of Hydrology and Climatology; Basharin, D. [National Academy of Science of Ukraine, Sevastopol (Ukraine). Sevastopol Marine Hydrophysical Inst.

    2012-11-01

    Using a NCEP/NCAR Reanalysis dataset and the empirical orthogonal function (EOF) analysis approach we studied interannual to decadal variabilities of the sea-level air pressure (SLP) and the surface air temperature (SAT) fields over Eurasia during the 2nd part of the 20th century. Our results agree with those of the previous studies, which conclude that Eurasian trends are the result of storm-path changes driven by the interdecadal behaviour of the NAO-like meridional dipole pattern in the Atlantic. On interannual and decadal time scales, significant synchronous correlations between correspondent modes of SAT and SLP EOF patterns were found. This fact suggests that there is a strong and stable Eurasian interrelationship between SAT and SLP large-scale fields which affects the local climate of two sub-regions: the Black and Baltic Seas. The climate variability in these sub-regions was studied in terms of Eurasian large-scale surface-temperature and air-pressure patterns responses. We concluded that the sub-regional climate variability substantially differs over the Black and Baltic Seas, and depends on different Eurasian large-scale patterns. We showed that the Baltic Sea region is influenced by the patterns arising primary from NAO-like meridional dipole, as well as Scandinavian patterns, while the Black Sea's SAT/SLP variability is influenced mainly by the second mode EOF (eastern Atlantic) and large scale tropospheric wave structures. (orig.)

  19. Collaborative Proposal: Improving Decadal Prediction of Arctic Climate Variability and Change Using a Regional Arctic System Model (RASM)

    Energy Technology Data Exchange (ETDEWEB)

    Maslowski, Wieslaw [Naval Postgraduate School, Monterey, CA (United States). Dept. of Oceanography; Cassano, John J. [Univ. of Colorado, Boulder, CO (United States); Gutowski, Jr., William J. [Iowa State Univ., Ames, IA (United States); Lipscomb, William H. [Los Alamos National Lab. (LANL), Los Alamos, NM (United States); Nijssen, Bart [Univ. of Washington, Seattle, WA (United States); Roberts, Andrew [Naval Postgraduate School, Monterey, CA (United States). Dept. of Oceanography; Robertson, William [Univ. of Texas, El Paso, TX (United States); Tulaczyk, Slawek [Univ. of California, Santa Cruz, CA (United States); Zeng, Xubin [Univ. of Arizona, Tucson, AZ (United States)

    2011-05-15

    The primary outcome of the project was the development of the Regional Arctic System Model (RASM) and evaluation of its individual model components, coupling among them and fully coupled model results. Overall, we have demonstrated that RASM produces realistic mean and seasonal surface climate as well as its interannual and decadal variability and trends.

  20. Local-scale models reveal ecological niche variability in amphibian and reptile communities from two contrasting biogeographic regions

    Directory of Open Access Journals (Sweden)

    Alberto Muñoz

    2016-10-01

    Full Text Available Ecological Niche Models (ENMs are widely used to describe how environmental factors influence species distribution. Modelling at a local scale, compared to a large scale within a high environmental gradient, can improve our understanding of ecological species niches. The main goal of this study is to assess and compare the contribution of environmental variables to amphibian and reptile ENMs in two Spanish national parks located in contrasting biogeographic regions, i.e., the Mediterranean and the Atlantic area. The ENMs were built with maximum entropy modelling using 11 environmental variables in each territory. The contributions of these variables to the models were analysed and classified using various statistical procedures (Mann–Whitney U tests, Principal Components Analysis and General Linear Models. Distance to the hydrological network was consistently the most relevant variable for both parks and taxonomic classes. Topographic variables (i.e., slope and altitude were the second most predictive variables, followed by climatic variables. Differences in variable contribution were observed between parks and taxonomic classes. Variables related to water availability had the larger contribution to the models in the Mediterranean park, while topography variables were decisive in the Atlantic park. Specific response curves to environmental variables were in accordance with the biogeographic affinity of species (Mediterranean and non-Mediterranean species and taxonomy (amphibians and reptiles. Interestingly, these results were observed for species located in both parks, particularly those situated at their range limits. Our findings show that ecological niche models built at local scale reveal differences in habitat preferences within a wide environmental gradient. Therefore, modelling at local scales rather than assuming large-scale models could be preferable for the establishment of conservation strategies for herptile species in natural

  1. Local-scale models reveal ecological niche variability in amphibian and reptile communities from two contrasting biogeographic regions

    Science.gov (United States)

    Santos, Xavier; Felicísimo, Ángel M.

    2016-01-01

    Ecological Niche Models (ENMs) are widely used to describe how environmental factors influence species distribution. Modelling at a local scale, compared to a large scale within a high environmental gradient, can improve our understanding of ecological species niches. The main goal of this study is to assess and compare the contribution of environmental variables to amphibian and reptile ENMs in two Spanish national parks located in contrasting biogeographic regions, i.e., the Mediterranean and the Atlantic area. The ENMs were built with maximum entropy modelling using 11 environmental variables in each territory. The contributions of these variables to the models were analysed and classified using various statistical procedures (Mann–Whitney U tests, Principal Components Analysis and General Linear Models). Distance to the hydrological network was consistently the most relevant variable for both parks and taxonomic classes. Topographic variables (i.e., slope and altitude) were the second most predictive variables, followed by climatic variables. Differences in variable contribution were observed between parks and taxonomic classes. Variables related to water availability had the larger contribution to the models in the Mediterranean park, while topography variables were decisive in the Atlantic park. Specific response curves to environmental variables were in accordance with the biogeographic affinity of species (Mediterranean and non-Mediterranean species) and taxonomy (amphibians and reptiles). Interestingly, these results were observed for species located in both parks, particularly those situated at their range limits. Our findings show that ecological niche models built at local scale reveal differences in habitat preferences within a wide environmental gradient. Therefore, modelling at local scales rather than assuming large-scale models could be preferable for the establishment of conservation strategies for herptile species in natural parks. PMID

  2. Understanding Short-Term Nonmigrating Tidal Variability in the Ionospheric Dynamo Region from SABER Using Information Theory and Bayesian Statistics

    Science.gov (United States)

    Kumari, K.; Oberheide, J.

    2017-12-01

    Nonmigrating tidal diagnostics of SABER temperature observations in the ionospheric dynamo region reveal a large amount of variability on time-scales of a few days to weeks. In this paper, we discuss the physical reasons for the observed short-term tidal variability using a novel approach based on Information theory and Bayesian statistics. We diagnose short-term tidal variability as a function of season, QBO, ENSO, and solar cycle and other drivers using time dependent probability density functions, Shannon entropy and Kullback-Leibler divergence. The statistical significance of the approach and its predictive capability is exemplified using SABER tidal diagnostics with emphasis on the responses to the QBO and solar cycle. Implications for F-region plasma density will be discussed.

  3. Revised genomic structure of the human ghrelin gene and identification of novel exons, alternative splice variants and natural antisense transcripts

    Directory of Open Access Journals (Sweden)

    Herington Adrian C

    2007-08-01

    Full Text Available Abstract Background Ghrelin is a multifunctional peptide hormone expressed in a range of normal tissues and pathologies. It has been reported that the human ghrelin gene consists of five exons which span 5 kb of genomic DNA on chromosome 3 and includes a 20 bp non-coding first exon (20 bp exon 0. The availability of bioinformatic tools enabling comparative analysis and the finalisation of the human genome prompted us to re-examine the genomic structure of the ghrelin locus. Results We have demonstrated the presence of an additional novel exon (exon -1 and 5' extensions to exon 0 and 1 using comparative in silico analysis and have demonstrated their existence experimentally using RT-PCR and 5' RACE. A revised exon-intron structure demonstrates that the human ghrelin gene spans 7.2 kb and consists of six rather than five exons. Several ghrelin gene-derived splice forms were detected in a range of human tissues and cell lines. We have demonstrated ghrelin gene-derived mRNA transcripts that do not code for ghrelin, but instead may encode the C-terminal region of full-length preproghrelin (C-ghrelin, which contains the coding region for obestatin and a transcript encoding obestatin-only. Splice variants that differed in their 5' untranslated regions were also found, suggesting a role of these regions in the post-transcriptional regulation of preproghrelin translation. Finally, several natural antisense transcripts, termed ghrelinOS (ghrelin opposite strand transcripts, were demonstrated via orientation-specific RT-PCR, 5' RACE and in silico analysis of ESTs and cloned amplicons. Conclusion The sense and antisense alternative transcripts demonstrated in this study may function as non-coding regulatory RNA, or code for novel protein isoforms. This is the first demonstration of putative obestatin and C-ghrelin specific transcripts and these findings suggest that these ghrelin gene-derived peptides may also be produced independently of preproghrelin

  4. Spatiotemporal Variability of Humidity Across the Contiguous United States and Southern Canada Using Regional Networks

    Science.gov (United States)

    Behnke, Ruben John

    The objective of this dissertation was to show that there is now enough observed humidity data available so that estimates of humidity, along with their necessary assumptions, can be replaced by measured humidity data. The range of applications that depend on humidity data is huge, ranging from water use efficiency of plants and plant stress to human health and agricultural practices. Biases due to the use of estimated humidity can be expected to have short and long impacts, decreasing the accuracy and precision of these, and many other, applications. Data from local, regional, and national observation networks was gathered, and custom quality control routines were written to remove bad data points from over 45000 stations, leaving 12533 usable stations. While still not at the same number of observations as temperature or precipitation, this number is nearly ten times as high as two decades ago. The work I performed consists of three major components, corresponding to the three main chapters of this dissertation. In chapter one, I describe data sources and quality control methods, along with some basic statistics of humidity, describing which geographic variables often used to predict temperature and precipitation can be used to do the same for humidity. Chapter two defines specific diurnal patterns (or "types") of dew point across the United States, including their attributes, causes, and potential influences. Chapter three analyzes biases in evapotranspiration, heat indices, and relative humidity levels that are a direct result of using estimated humidity data. Chapter four discusses contributions this work makes to the scientific community, and potential further research to build on what is presented here. While it may seem that the science of humidity should be well beyond data gathering and bias analysis, the fact remains that humidity is still very commonly estimated through the use of minimum temperature, and diurnal changes in dew point are often ignored

  5. Are revised models better models? A skill score assessment of regional interannual variability

    Science.gov (United States)

    Sperber, Kenneth R.; Participating AMIP Modelling Groups

    1999-05-01

    Various skill scores are used to assess the performance of revised models relative to their original configurations. The interannual variability of all-India, Sahel and Nordeste rainfall and summer monsoon windshear is examined in integrations performed under the experimental design of the Atmospheric Model Intercomparison Project. For the indices considered, the revised models exhibit greater fidelity at simulating the observed interannual variability. Interannual variability of all-India rainfall is better simulated by models that have a more realistic rainfall climatology in the vicinity of India, indicating the beneficial effect of reducing systematic model error.

  6. Evaluating the Impact of Localized GCM Grid Refinement on Regional Tropical Cyclone Climatology and Synoptic Variability using Variable-Resolution CAM-SE

    Science.gov (United States)

    Zarzycki, C.; Jablonowski, C.

    2013-12-01

    Using General Circulation Models (GCMs) to resolve sub-synoptic features in climate simulations has traditionally been difficult due to a multitude of atmospheric processes operating at subgrid scales requiring significant parameterization. For example, at traditional GCM horizontal grid resolutions of 50-300 km, tropical cyclones are generally under-resolved. This paper explores a novel variable-resolution global modeling approach that allows for high spatial resolutions in areas of interest, such as low-latitude ocean basins where tropical cyclogenesis occurs. Such multi-resolution GCM designs allow for targeted use of computing resources at the regional level while maintaining a globally-continuous model domain and may serve to bridge the gap between GCMs with uniform grids and boundary-forced limited area models. A statically-nested, variable-resolution option has recently been introduced into the Community Atmosphere Model's (CAM) Spectral Element (SE) dynamical core. A 110 km CAM-SE grid with a 28 km nest over the Atlantic Ocean has been coupled to land, ocean, and ice components within the Community Earth System Model (CESM). We present the results of a multi-decadal climate simulation using Atmospheric Model Intercomparison Project (AMIP) protocols, which force the model with historical sea surface temperatures and airborne chemical species. To investigate whether refinement improves the representation of tropical cyclones, we compare Atlantic storm statistics to observations with specific focus paid to intensity profiles and track densities. The resolution dependance of both cyclone structure and objective detection between refined and unrefined basins is explored. In addition, we discuss the potential impact of using variable-resolution grids on the large-scale synoptic interannual variability by comparing refined grid simulations to reanalysis data as well as an unrefined, globally-uniform CAM-SE simulation with identical forcing. We also evaluate the

  7. Santa Ana Winds of Southern California: Their Climatology and Variability Spanning 6.5 Decades from Regional Dynamical Modelling

    Science.gov (United States)

    Guzman-Morales, J.; Gershunov, A.

    2015-12-01

    Santa Ana Winds (SAWs) are an integral feature of the regional climate of Southern California/Northern Baja California region. In spite of their tremendous episodic impacts on the health, economy and mood of the region, climate-scale behavior of SAW is poorly understood. In the present work, we identify SAWs in mesoscale dynamical downscaling of a global reanalysis product and construct an hourly SAW catalogue spanning 65 years. We describe the long-term SAW climatology at relevant time-space resolutions, i.e, we developed local and regional SAW indices and analyse their variability on hourly, daily, annual, and multi-decadal timescales. Local and regional SAW indices are validated with available anemometer observations. Characteristic behaviors are revealed, e.g. the SAW intensity-duration relationship. At interdecadal time scales, we find that seasonal SAW activity is sensitive to prominent large-scale low-frequency modes of climate variability rooted in the tropical and north Pacific ocean-atmosphere system that are also known to affect the hydroclimate of this region. Lastly, we do not find any long-term trend in SAW frequency and intensity as previously reported. Instead, we identify a significant long-term trend in SAW behavior whereby contribution of extreme SAW events to total seasonal SAW activity has been increasing at the expense of moderate events. These findings motivate further investigation on SAW evolution in future climate and its impact on wildfires.

  8. Structure of genes for dermaseptins B, antimicrobial peptides from frog skin. Exon 1-encoded prepropeptide is conserved in genes for peptides of highly different structures and activities.

    Science.gov (United States)

    Vouille, V; Amiche, M; Nicolas, P

    1997-09-01

    We cloned the genes of two members of the dermaseptin family, broad-spectrum antimicrobial peptides isolated from the skin of the arboreal frog Phyllomedusa bicolor. The dermaseptin gene Drg2 has a 2-exon coding structure interrupted by a small 137-bp intron, wherein exon 1 encoded a 22-residue hydrophobic signal peptide and the first three amino acids of the acidic propiece; exon 2 contained the 18 additional acidic residues of the propiece plus a typical prohormone processing signal Lys-Arg and a 32-residue dermaseptin progenitor sequence. The dermaseptin genes Drg2 and Drg1g2 have conserved sequences at both untranslated ends and in the first and second coding exons. In contrast, Drg1g2 comprises a third coding exon for a short version of the acidic propiece and a second dermaseptin progenitor sequence. Structural conservation between the two genes suggests that Drg1g2 arose recently from an ancestral Drg2-like gene through amplification of part of the second coding exon and 3'-untranslated region. Analysis of the cDNAs coding precursors for several frog skin peptides of highly different structures and activities demonstrates that the signal peptides and part of the acidic propieces are encoded by conserved nucleotides encompassed by the first coding exon of the dermaseptin genes. The organization of the genes that belong to this family, with the signal peptide and the progenitor sequence on separate exons, permits strikingly different peptides to be directed into the secretory pathway. The recruitment of such a homologous 'secretory' exon by otherwise non-homologous genes may have been an early event in the evolution of amphibian.

  9. Adaptive antibody diversification through N-linked glycosylation of the immunoglobulin variable region.

    Science.gov (United States)

    van de Bovenkamp, Fleur S; Derksen, Ninotska I L; Ooijevaar-de Heer, Pleuni; van Schie, Karin A; Kruithof, Simone; Berkowska, Magdalena A; van der Schoot, C Ellen; IJspeert, Hanna; van der Burg, Mirjam; Gils, Ann; Hafkenscheid, Lise; Toes, René E M; Rombouts, Yoann; Plomp, Rosina; Wuhrer, Manfred; van Ham, S Marieke; Vidarsson, Gestur; Rispens, Theo

    2018-02-20

    A hallmark of B-cell immunity is the generation of a diverse repertoire of antibodies from a limited set of germline V(D)J genes. This repertoire is usually defined in terms of amino acid composition. However, variable domains may also acquire N -linked glycans, a process conditional on the introduction of consensus amino acid motifs ( N -glycosylation sites) during somatic hypermutation. High levels of variable domain glycans have been associated with autoantibodies in rheumatoid arthritis, as well as certain follicular lymphomas. However, the role of these glycans in the humoral immune response remains poorly understood. Interestingly, studies have reported both positive and negative effects on antibody affinity. Our aim was to elucidate the role of variable domain glycans during antigen-specific antibody responses. By analyzing B-cell repertoires by next-generation sequencing, we demonstrate that N -glycosylation sites are introduced at positions in which glycans can affect antigen binding as a result of a specific clustering of progenitor glycosylation sites in the germline sequences of variable domain genes. By analyzing multiple human monoclonal and polyclonal (auto)antibody responses, we subsequently show that this process is subject to selection during antigen-specific antibody responses, skewed toward IgG4, and positively contributes to antigen binding. Together, these results highlight a physiological role for variable domain glycosylation as an additional layer of antibody diversification that modulates antigen binding.

  10. Increased topographical variability of task-related activation in perceptive and motor associative regions in adult autistics

    Directory of Open Access Journals (Sweden)

    Marie-Pier Poulin-Lord

    2014-01-01

    Conclusion: Different and possibly unique strategies are used by each autistic individual. That enhanced variability in localization of activations in the autistic group is found in regions typically more variable in non-autistics raises the possibility that autism involves an enhancement and/or an alteration of typical plasticity mechanisms. The current study also highlights the necessity to verify, in fMRI studies involving autistic people, that hypoactivation at the group level does not result from each individual successfully completing a task using a unique brain allocation, even by comparison to his own group.

  11. Pollen-based reconstruction of Holocene climate variability in the Eifel region evaluated with stable isotopes

    Science.gov (United States)

    Kühl, Norbert; Moschen, Robert; Wagner, Stefanie

    2010-05-01

    Pollen as well as stable isotopes have great potential as climate proxy data. While variability in these proxy data is frequently assumed to reflect climate variability, other factors than climate, including human impact and statistical noise, can often not be excluded as primary cause for the observed variability. Multiproxy studies offer the opportunity to test different drivers by providing different lines of evidence for environmental change such as climate variability and human impact. In this multiproxy study we use pollen and peat humification to evaluate to which extent stable oxygen and carbon isotope series from the peat bog "Dürres Maar" reflect human impact rather than climate variability. For times before strong anthropogenic vegetation change, isotope series from Dürres Maar were used to validate quantitative reconstructions based on pollen. Our study site is the kettle hole peat bog "Dürres Maar" in the Eifel low mountain range, Germany (450m asl), which grew 12m during the last 10,000 years. Pollen was analysed with a sum of at least 1000 terrestrial pollen grains throughout the profile to minimize statistical effects on the reconstructions. A recently developed probabilistic indicator taxa method ("pdf-method") was used for the quantitative climate estimates (January and July temperature) based on pollen. For isotope analysis, attention was given to use monospecific Sphagnum leaves whenever possible, reducing the potential of a species effect and any potential artefact that can originate from selective degradation of different morphological parts of Sphagnum plants (Moschen et al., 2009). Pollen at "Dürres Maar" reflect the variable and partly strong human impact on vegetation during the last 4000 years. Stable isotope time series were apparently not influenced by human impact at this site. This highlights the potential of stable isotope investigations from peat for climatic interpretation, because stable isotope series from lacustrine

  12. Un gene con intrones en vez de exones / Envejecimiento Prematuro de la Piel

    Directory of Open Access Journals (Sweden)

    Tobías Mojica

    1996-04-01

    Full Text Available Un gene con intrones en vez de exones. La noción de que los genes son discontinuos (compuestos de exones e intrones en forma alterna y en cuya organización los exones representan regiones presentes, por medio del código genético en las proteínas, y los intrones nadie sabe todavía que representan produjo una cierta cantidad de desasosiego entre los genetistas mayores de edad, pero hoy día es ampliamente aceptada, con poco o ningún dolor, y se ha convertido en parte del cánon científico. / Envejecimiento Prematuro de la Piel. La exposición a largo plazo de la piel a la luz ultravioleta proveniente del sol resulta en daño al colágeno de la piel y a la elastina de la matriz extracelular; se cree que este daño es responsable de la apariencia típicamente arrugadita de la piel expuesta al sol por mucho tiempo (como en los vaqueros de los comerciales de la televisión.

  13. First Exon Length Controls Active Chromatin Signatures and Transcription

    Directory of Open Access Journals (Sweden)

    Nicole I. Bieberstein

    2012-07-01

    Full Text Available Here, we explore the role of splicing in transcription, employing both genome-wide analysis of human ChIP-seq data and experimental manipulation of exon-intron organization in transgenic cell lines. We show that the activating histone modifications H3K4me3 and H3K9ac map specifically to first exon-intron boundaries. This is surprising, because these marks help recruit general transcription factors (GTFs to promoters. In genes with long first exons, promoter-proximal levels of H3K4me3 and H3K9ac are greatly reduced; consequently, GTFs and RNA polymerase II are low at transcription start sites (TSSs and exhibit a second, promoter-distal peak from which transcription also initiates. In contrast, short first exons lead to increased H3K4me3 and H3K9ac at promoters, higher expression levels, accuracy in TSS usage, and a lower frequency of antisense transcription. Therefore, first exon length is predictive for gene activity. Finally, splicing inhibition and intron deletion reduce H3K4me3 levels and transcriptional output. Thus, gene architecture and splicing determines transcription quantity and quality as well as chromatin signatures.

  14. Intron Retention and TE Exonization Events in ZRANB2

    Directory of Open Access Journals (Sweden)

    Sang-Je Park

    2012-01-01

    Full Text Available The Zinc finger, RAN-binding domain-containing protein 2 (ZRANB2, contains arginine/serine-rich (RS domains that mediate its function in the regulation of alternative splicing. The ZRANB2 gene contains 2 LINE elements (L3b, Plat_L3 between the 9th and 10th exons. We identified the exonization event of a LINE element (Plat_L3. Using genomic PCR, RT-PCR amplification, and sequencing of primate DNA and RNA samples, we analyzed the evolutionary features of ZRANB2 transcripts. The results indicated that 2 of the LINE elements were integrated in human and all of the tested primate samples (hominoids: 3 species; Old World monkey: 8 species; New World monkey: 6 species; prosimian: 1 species. Human, rhesus monkey, crab-eating monkey, African-green monkey, and marmoset harbor the exon derived from LINE element (Plat_L3. RT-PCR amplification revealed the long transcripts and their differential expression patterns. Intriguingly, these long transcripts were abundantly expressed in Old World monkey lineages (rhesus, crab-eating, and African-green monkeys and were expressed via intron retention (IR. Thus, the ZRANB2 gene produces 3 transcript variants in which the Cterminus varies by transposable elements (TEs exonization and IR mechanisms. Therefore, ZRANB2 is valuable for investigating the evolutionary mechanisms of TE exonization and IR during primate evolution.

  15. Accounting for CO2 variability over East Asia with a regional joint inversion system and its preliminary evaluation

    Science.gov (United States)

    Kou, Xingxia; Tian, Xiangjun; Zhang, Meigen; Peng, Zhen; Zhang, Xiaoling

    2017-10-01

    A regional surface carbon dioxide (CO2) flux inversion system, the Tan-Tracker-Region, was developed by incorporating an assimilation scheme into the Community Multiscale Air Quality (CMAQ) regional chemical transport model to resolve fine-scale CO2 variability over East Asia. The proper orthogonal decomposition-based ensemble four-dimensional variational data assimilation approach (POD-4DVar) is the core algorithm for the joint assimilation framework, and simultaneous assimilations of CO2 concentrations and surface CO2 fluxes are applied to help reduce the uncertainty in initial CO2 concentrations. A persistence dynamical model was developed to describe the evolution of the surface CO2 fluxes and help avoid the "signal-to-noise" problem; thus, CO2 fluxes could be estimated as a whole at the model grid scale, with better use of observation information. The performance of the regional inversion system was evaluated through a group of single-observation-based observing system simulation experiments (OSSEs). The results of the experiments suggest that a reliable performance of Tan-Tracker-Region is dependent on certain assimilation parameter choices, for example, an optimized window length of approximately 3 h, an ensemble size of approximately 100, and a covariance localization radius of approximately 320 km. This is probably due to the strong diurnal variation and spatial heterogeneity in the fine-scale CMAQ simulation, which could affect the performance of the regional inversion system. In addition, because all observations can be artificially obtained in OSSEs, the performance of Tan-Tracker-Region was further evaluated through different densities of the artificial observation network in different CO2 flux situations. The results indicate that more observation sites would be useful to systematically improve the estimation of CO2 concentration and flux in large areas over the model domain. The work presented here forms a foundation for future research in which a

  16. Association of KIT exon 9 mutations with nongastric primary site and aggressive behavior: KIT mutation analysis and clinical correlates of 120 gastrointestinal stromal tumors.

    Science.gov (United States)

    Antonescu, Cristina R; Sommer, Gunhild; Sarran, Lisa; Tschernyavsky, Sylvia J; Riedel, Elyn; Woodruff, James M; Robson, Mark; Maki, Robert; Brennan, Murray F; Ladanyi, Marc; DeMatteo, Ronald P; Besmer, Peter

    2003-08-15

    Activating mutations of the KIT juxtamembrane region are the most common genetic events in gastrointestinal stromal tumors (GISTs) and have been noted as independent prognostic factors. The impact of KIT mutation in other regions, such as the extracellular or kinase domains, is not well-defined and fewer than 30 cases have been published to date. One hundred twenty GISTs, confirmed by KIT immunoreactivity, were evaluated for the presence of KIT exon 9, 11, 13, and 17 mutations. The relation between the presence/type of KIT mutation and clinicopathological factors was analyzed using Fisher's exact test and log-rank test. Forty-four % of the tumors were located in the stomach, 47% in the small bowel, 6% in the rectum, and 3% in the retroperitoneum. Overall, KIT mutations were detected in 78% of patients as follows: 67% in exon 11, 11% in exon 9, and none in exon 13 or 17. The types of KIT exon 11 mutations were heterogeneous and clustered in the classic "hot spot" at the 5' end of exon 11. Seven % of cases showed internal tandem duplications (ITD) at the 3' end of exon 11, in a region that we designate as a second hot spot for KIT mutations. Interestingly, these cases were associated with: female predominance, stomach location, occurrence in older patients, and favorable outcome. There were significant associations between exon 9 mutations and large tumor size (P < 0.001) and extragastric location (P = 0.02). Ten of these 13 patients with more than 1-year follow-up have developed recurrent disease. Most KIT-expressing GISTs show KIT mutations that are preferentially located within the classic hot spot of exon 11. In addition, we found an association between a second hot spot at the 3'end of exon 11, characterized by ITDs, and a subgroup of clinically indolent gastric GISTs in older females. KIT exon 9 mutations seem to define a distinct subset of GISTs, located predominantly in the small bowel and associated with an unfavorable clinical course.

  17. Assessment of soil variability of South moravian region based on the satellite imagery

    Czech Academy of Sciences Publication Activity Database

    Novák, J.; Lukas, V.; Rodriguez Moreno, Fernando; Křen, J.

    2018-01-01

    Roč. 66, č. 1 (2018), s. 119-129 ISSN 1211-8516 Institutional support: RVO:86652079 Keywords : Coefficient of variation * lpis * ndvi * pca * RapidEye * Remote sensing * sentinel 2 * Soil variability Subject RIV: DF - Soil Science OBOR OECD: Soil science

  18. Regional Variability and Uncertainty of Electric Vehicle Life Cycle CO₂ Emissions across the United States.

    Science.gov (United States)

    Tamayao, Mili-Ann M; Michalek, Jeremy J; Hendrickson, Chris; Azevedo, Inês M L

    2015-07-21

    We characterize regionally specific life cycle CO2 emissions per mile traveled for plug-in hybrid electric vehicles (PHEVs) and battery electric vehicles (BEVs) across the United States under alternative assumptions for regional electricity emission factors, regional boundaries, and charging schemes. We find that estimates based on marginal vs average grid emission factors differ by as much as 50% (using National Electricity Reliability Commission (NERC) regional boundaries). Use of state boundaries versus NERC region boundaries results in estimates that differ by as much as 120% for the same location (using average emission factors). We argue that consumption-based marginal emission factors are conceptually appropriate for evaluating the emissions implications of policies that increase electric vehicle sales or use in a region. We also examine generation-based marginal emission factors to assess robustness. Using these two estimates of NERC region marginal emission factors, we find the following: (1) delayed charging (i.e., starting at midnight) leads to higher emissions in most cases due largely to increased coal in the marginal generation mix at night; (2) the Chevrolet Volt has higher expected life cycle emissions than the Toyota Prius hybrid electric vehicle (the most efficient U.S. gasoline vehicle) across the U.S. in nearly all scenarios; (3) the Nissan Leaf BEV has lower life cycle emissions than the Prius in the western U.S. and in Texas, but the Prius has lower emissions in the northern Midwest regardless of assumed charging scheme and marginal emissions estimation method; (4) in other regions the lowest emitting vehicle depends on charge timing and emission factor estimation assumptions.

  19. Analysis of source regions and meteorological factors for the variability of spring PM10 concentrations in Seoul, Korea

    Science.gov (United States)

    Lee, Jangho; Kim, Kwang-Yul

    2018-02-01

    CSEOF analysis is applied for the springtime (March, April, May) daily PM10 concentrations measured at 23 Ministry of Environment stations in Seoul, Korea for the period of 2003-2012. Six meteorological variables at 12 pressure levels are also acquired from the ERA Interim reanalysis datasets. CSEOF analysis is conducted for each meteorological variable over East Asia. Regression analysis is conducted in CSEOF space between the PM10 concentrations and individual meteorological variables to identify associated atmospheric conditions for each CSEOF mode. By adding the regressed loading vectors with the mean meteorological fields, the daily atmospheric conditions are obtained for the first five CSEOF modes. Then, HYSPLIT model is run with the atmospheric conditions for each CSEOF mode in order to back trace the air parcels and dust reaching Seoul. The K-means clustering algorithm is applied to identify major source regions for each CSEOF mode of the PM10 concentrations in Seoul. Three main source regions identified based on the mean fields are: (1) northern Taklamakan Desert (NTD), (2) Gobi Desert and (GD), and (3) East China industrial area (ECI). The main source regions for the mean meteorological fields are consistent with those of previous study; 41% of the source locations are located in GD followed by ECI (37%) and NTD (21%). Back trajectory calculations based on CSEOF analysis of meteorological variables identify distinct source characteristics associated with each CSEOF mode and greatly facilitate the interpretation of the PM10 variability in Seoul in terms of transportation route and meteorological conditions including the source area.

  20. Temporal and spatial variability of frost-free seasons in the Great Lakes region of the United States

    Science.gov (United States)

    Lejiang Yu; Shiyuan Zhong; Xindi Bian; Warren E. Heilman; Jeffrey A. Andresen

    2014-01-01

    The frequency and timing of frost events and the length of the growing season are critical limiting factors in many human and natural ecosystems. This study investigates the temporal and spatial variability of the date of last spring frost (LSF), the date of first fall frost (FFF), and the length of the frost-free season (FFS) in the Great Lakes region of the United...

  1. Protection against Syphilis Correlates with Specificity of Antibodies to the Variable Regions of Treponema pallidum Repeat Protein K

    OpenAIRE

    Morgan, Cecilia A.; Lukehart, Sheila A.; Van Voorhis, Wesley C.

    2003-01-01

    Syphilis has been recognized as a disease since the late 1400s, yet there is no practical vaccine available. One impediment to the development of a vaccine is the lack of understanding of multiple reinfections in humans despite the development of robust immune responses during the first episode. It has been shown that the Treponema pallidum repeat protein K (TprK) differs in seven discrete variable (V) regions in isolates and that the antibody response during infection is directed to these V ...

  2. Validation of EURO-CORDEX regional climate models in reproducing the variability of precipitation extremes in Romania

    Science.gov (United States)

    Dumitrescu, Alexandru; Busuioc, Aristita

    2016-04-01

    EURO-CORDEX is the European branch of the international CORDEX initiative that aims to provide improved regional climate change projections for Europe. The main objective of this paper is to document the performance of the individual models in reproducing the variability of precipitation extremes in Romania. Here three EURO-CORDEX regional climate models (RCMs) ensemble (scenario RCP4.5) are analysed and inter-compared: DMI-HIRHAM5, KNMI-RACMO2.2 and MPI-REMO. Compared to previous studies, when the RCM validation regarding the Romanian climate has mainly been made on mean state and at station scale, a more quantitative approach of precipitation extremes is proposed. In this respect, to have a more reliable comparison with observation, a high resolution daily precipitation gridded data set was used as observational reference (CLIMHYDEX project). The comparison between the RCM outputs and observed grid point values has been made by calculating three extremes precipitation indices, recommended by the Expert Team on Climate Change Detection Indices (ETCCDI), for the 1976-2005 period: R10MM, annual count of days when precipitation ≥10mm; RX5DAY, annual maximum 5-day precipitation and R95P%, precipitation fraction of annual total precipitation due to daily precipitation > 95th percentile. The RCMs capability to reproduce the mean state for these variables, as well as the main modes of their spatial variability (given by the first three EOF patterns), are analysed. The investigation confirms the ability of RCMs to simulate the main features of the precipitation extreme variability over Romania, but some deficiencies in reproducing of their regional characteristics were found (for example, overestimation of the mea state, especially over the extra Carpathian regions). This work has been realised within the research project "Changes in climate extremes and associated impact in hydrological events in Romania" (CLIMHYDEX), code PN II-ID-2011-2-0073, financed by the Romanian

  3. Prevalence and variability of use of home mechanical ventilators, positive airway pressure and oxygen devices in the Lombardy region, Italy.

    Science.gov (United States)

    Vitacca, Michele; Barbano, Luca; Colombo, Daniele; Leoni, Olivia; Guffanti, Enrico

    2018-01-29

    Few studies have analyzed the prevalence and accessibility of home mechanical ventilation (HMV) in Italy. We aimed to investigate the prevalence and prescription variability of HMV as well as of long-term oxygen therapy (LTOT) and continuous positive airway pressure (CPAP), in the Lombardy Region. Prescribing rates of HMV (both noninvasive and tracheostomies), CPAP (auto-CPAP, CPAP/other sleep machines) and LTOT (liquid-O2, O2-gas, concentrators) in the 15 Local Healthcare districts of Lombardy were gathered from billing data for 2012 and compared. Crude rates (per 100,000 population) and rates for the different healthcare districts were calculated. In 2012, 6325 patients were on HMV (crude prescription rate: 63/100,000) with a high variation across districts (8/100,000 in Milano 1 vs 150/100,000 in Pavia). There were 14,237 patients on CPAP (crude prescription rate: 142/100,000; CPAP/other sleep machines 95.3% vs auto-CPAP 4.7%) with also high intra-regional variation (56/100,000 in Mantova vs. 260/100,000 in Pavia). There were 21,826 patients on LTOT (prescription rate: 217/100,000 rate; liquid-O2 94%, O2-gas 2.08%, O2-concentrators 3.8%), with again high intra-regional variation (100/100,000 in Bergamo vs 410/100,000 in Valle Camonica). The crude rate of HMV prescriptions in Lombardy is very high, with a high intra-regional variability in prescribing HMV, LTOT and CPAP which is partly explainable by the accessibility to specialist centers with HMV/sleep-study facilities. Analysis of administrative data and variability mapping can help identify areas of reduced access for an improved standardization of services. An audit among Health Payer and prescribers to interpret the described huge variability could be welcomed.

  4. HLA-E regulatory and coding region variability and haplotypes in a Brazilian population sample.

    Science.gov (United States)

    Ramalho, Jaqueline; Veiga-Castelli, Luciana C; Donadi, Eduardo A; Mendes-Junior, Celso T; Castelli, Erick C

    2017-11-01

    The HLA-E gene is characterized by low but wide expression on different tissues. HLA-E is considered a conserved gene, being one of the least polymorphic class I HLA genes. The HLA-E molecule interacts with Natural Killer cell receptors and T lymphocytes receptors, and might activate or inhibit immune responses depending on the peptide associated with HLA-E and with which receptors HLA-E interacts to. Variable sites within the HLA-E regulatory and coding segments may influence the gene function by modifying its expression pattern or encoded molecule, thus, influencing its interaction with receptors and the peptide. Here we propose an approach to evaluate the gene structure, haplotype pattern and the complete HLA-E variability, including regulatory (promoter and 3'UTR) and coding segments (with introns), by using massively parallel sequencing. We investigated the variability of 420 samples from a very admixed population such as Brazilians by using this approach. Considering a segment of about 7kb, 63 variable sites were detected, arranged into 75 extended haplotypes. We detected 37 different promoter sequences (but few frequent ones), 27 different coding sequences (15 representing new HLA-E alleles) and 12 haplotypes at the 3'UTR segment, two of them presenting a summed frequency of 90%. Despite the number of coding alleles, they encode mainly two different full-length molecules, known as E*01:01 and E*01:03, which corresponds to about 90% of all. In addition, differently from what has been previously observed for other non classical HLA genes, the relationship among the HLA-E promoter, coding and 3'UTR haplotypes is not straightforward because the same promoter and 3'UTR haplotypes were many times associated with different HLA-E coding haplotypes. This data reinforces the presence of only two main full-length HLA-E molecules encoded by the many HLA-E alleles detected in our population sample. In addition, this data does indicate that the distal HLA-E promoter is by

  5. Evolution of the Exon-Intron Structure in Ciliate Genomes.

    Directory of Open Access Journals (Sweden)

    Vladyslav S Bondarenko

    Full Text Available A typical eukaryotic gene is comprised of alternating stretches of regions, exons and introns, retained in and spliced out a mature mRNA, respectively. Although the length of introns may vary substantially among organisms, a large fraction of genes contains short introns in many species. Notably, some Ciliates (Paramecium and Nyctotherus possess only ultra-short introns, around 25 bp long. In Paramecium, ultra-short introns with length divisible by three (3n are under strong evolutionary pressure and have a high frequency of in-frame stop codons, which, in the case of intron retention, cause premature termination of mRNA translation and consequent degradation of the mis-spliced mRNA by the nonsense-mediated decay mechanism. Here, we analyzed introns in five genera of Ciliates, Paramecium, Tetrahymena, Ichthyophthirius, Oxytricha, and Stylonychia. Introns can be classified into two length classes in Tetrahymena and Ichthyophthirius (with means 48 bp, 69 bp, and 55 bp, 64 bp, respectively, but, surprisingly, comprise three distinct length classes in Oxytricha and Stylonychia (with means 33-35 bp, 47-51 bp, and 78-80 bp. In most ranges of the intron lengths, 3n introns are underrepresented and have a high frequency of in-frame stop codons in all studied species. Introns of Paramecium, Tetrahymena, and Ichthyophthirius are preferentially located at the 5' and 3' ends of genes, whereas introns of Oxytricha and Stylonychia are strongly skewed towards the 5' end. Analysis of evolutionary conservation shows that, in each studied genome, a significant fraction of intron positions is conserved between the orthologs, but intron lengths are not correlated between the species. In summary, our study provides a detailed characterization of introns in several genera of Ciliates and highlights some of their distinctive properties, which, together, indicate that splicing spellchecking is a universal and evolutionarily conserved process in the biogenesis of short

  6. Drought Variability and Land Degradation in Semiarid Regions: Assessment Using Remote Sensing Data and Drought Indices (1982–2011

    Directory of Open Access Journals (Sweden)

    Sergio M. Vicente-Serrano

    2015-04-01

    Full Text Available We analyzed potential land degradation processes in semiarid regions worldwide using long time series of remote sensing images and the Normalized Difference Vegetation Index (NDVI for the period 1981 to 2011. The objectives of the study were to identify semiarid regions showing a marked decrease in potential vegetation activity, indicative of the occurrence of land degradation processes, and to assess the possible influence of the observed drought trends quantified using the Standardized Precipitation Evapotranspiration Index (SPEI. We found that the NDVI values recorded during the period of maximum vegetation activity (NDVImax predominantly showed a positive evolution in the majority of the semiarid regions assessed, but NDVImax was highly correlated with drought variability, and the trends of drought events influenced trends in NDVImax at the global scale. The semiarid regions that showed most increase in NDVImax (the Sahel, northern Australia, South Africa were characterized by a clear positive trend in the SPEI values, indicative of conditions of greater humidity and lesser drought conditions. While changes in drought severity may be an important driver of NDVI trends and land degradation processes in semiarid regions worldwide, drought did not apparently explain some of the observed changes in NDVImax. This reflects the complexity of vegetation activity processes in the world’s semiarid regions, and the difficulty of defining a universal response to drought in these regions, where a number of factors (natural and anthropogenic may also affect on land degradation.

  7. Drought Variability and Land Degradation in Semiarid Regions: Assessment Using Remote Sensing Data and Drought Indices (1982–2011)

    KAUST Repository

    Vicente-Serrano, Sergio

    2015-04-14

    We analyzed potential land degradation processes in semiarid regions worldwide using long time series of remote sensing images and the Normalized Difference Vegetation Index (NDVI) for the period 1981 to 2011. The objectives of the study were to identify semiarid regions showing a marked decrease in potential vegetation activity, indicative of the occurrence of land degradation processes, and to assess the possible influence of the observed drought trends quantified using the Standardized Precipitation Evapotranspiration Index (SPEI). We found that the NDVI values recorded during the period of maximum vegetation activity (NDVImax) predominantly showed a positive evolution in the majority of the semiarid regions assessed, but NDVImax was highly correlated with drought variability, and the trends of drought events influenced trends in NDVImax at the global scale. The semiarid regions that showed most increase in NDVImax (the Sahel, northern Australia, South Africa) were characterized by a clear positive trend in the SPEI values, indicative of conditions of greater humidity and lesser drought conditions. While changes in drought severity may be an important driver of NDVI trends and land degradation processes in semiarid regions worldwide, drought did not apparently explain some of the observed changes in NDVImax. This reflects the complexity of vegetation activity processes in the world’s semiarid regions, and the difficulty of defining a universal response to drought in these regions, where a number of factors (natural and anthropogenic) may also affect on land degradation.

  8. Drought Variability and Land Degradation in Semiarid Regions: Assessment Using Remote Sensing Data and Drought Indices (1982–2011)

    KAUST Repository

    Vicente-Serrano, Sergio; Cabello, Daniel; Tomá s-Burguera, Miquel; Martí n-Herná ndez, Natalia; Beguerí a, Santiago; Azorin-Molina, Cesar; Kenawy, Ahmed

    2015-01-01

    We analyzed potential land degradation processes in semiarid regions worldwide using long time series of remote sensing images and the Normalized Difference Vegetation Index (NDVI) for the period 1981 to 2011. The objectives of the study were to identify semiarid regions showing a marked decrease in potential vegetation activity, indicative of the occurrence of land degradation processes, and to assess the possible influence of the observed drought trends quantified using the Standardized Precipitation Evapotranspiration Index (SPEI). We found that the NDVI values recorded during the period of maximum vegetation activity (NDVImax) predominantly showed a positive evolution in the majority of the semiarid regions assessed, but NDVImax was highly correlated with drought variability, and the trends of drought events influenced trends in NDVImax at the global scale. The semiarid regions that showed most increase in NDVImax (the Sahel, northern Australia, South Africa) were characterized by a clear positive trend in the SPEI values, indicative of conditions of greater humidity and lesser drought conditions. While changes in drought severity may be an important driver of NDVI trends and land degradation processes in semiarid regions worldwide, drought did not apparently explain some of the observed changes in NDVImax. This reflects the complexity of vegetation activity processes in the world’s semiarid regions, and the difficulty of defining a universal response to drought in these regions, where a number of factors (natural and anthropogenic) may also affect on land degradation.

  9. Sensitivity of extreme precipitation to temperature: the variability of scaling factors from a regional to local perspective

    Science.gov (United States)

    Schroeer, K.; Kirchengast, G.

    2018-06-01

    Potential increases in extreme rainfall induced hazards in a warming climate have motivated studies to link precipitation intensities to temperature. Increases exceeding the Clausius-Clapeyron (CC) rate of 6-7%/°C-1 are seen in short-duration, convective, high-percentile rainfall at mid latitudes, but the rates of change cease or revert at regionally variable threshold temperatures due to moisture limitations. It is unclear, however, what these findings mean in term of the actual risk of extreme precipitation on a regional to local scale. When conditioning precipitation intensities on local temperatures, key influences on the scaling relationship such as from the annual cycle and regional weather patterns need better understanding. Here we analyze these influences, using sub-hourly to daily precipitation data from a dense network of 189 stations in south-eastern Austria. We find that the temperature sensitivities in the mountainous western region are lower than in the eastern lowlands. This is due to the different weather patterns that cause extreme precipitation in these regions. Sub-hourly and hourly intensities intensify at super-CC and CC-rates, respectively, up to temperatures of about 17 °C. However, we also find that, because of the regional and seasonal variability of the precipitation intensities, a smaller scaling factor can imply a larger absolute change in intensity. Our insights underline that temperature precipitation scaling requires careful interpretation of the intent and setting of the study. When this is considered, conditional scaling factors can help to better understand which influences control the intensification of rainfall with temperature on a regional scale.

  10. Intraspecific Variability of Rotylenchulus reniformis from Cotton-growing Regions in the United States

    OpenAIRE

    Agudelo, Paula; Robbins, Robert T.; Stewart, James McD.; Szalanski, Allen L.

    2005-01-01

    Reniform nematode (Rotylenchulus reniformis) is a major pest of cotton in the southeastern United States. The objective of this study was to examine the variation of reniform nematode populations from cotton-growing locations in the United States where it is prevalent. Multivariate analysis of variance and discriminant analysis were used to determine the variability of morphology in males and immature females. Reproduction indices of populations were measured on selected soybean and cotton ge...

  11. Mesoscale variability in the Bransfield Strait region (Antarctica during Austral summer

    Directory of Open Access Journals (Sweden)

    M. A. García

    1994-08-01

    Full Text Available The Bransfield Strait is one the best-known areas of Antarctica's oceanic surroundings. In spite of this, the study of the mesoscale variability of its local circulation has been addressed only recently. This paper focuses on the mesoscale structure of local physical oceanographic conditions in the Bransfield Strait during the Austral summer as derived from the BIOANTAR 93 cruise and auxiliary remote sensing data. Moreover, data recovered from moored current meters allow identification of transient mesoscale phenomena.

  12. Intra-individual variability of ITS regions in entomopathogenic nematodes (Steinernematidae: Nematoda): implications for their taxonomy

    Czech Academy of Sciences Publication Activity Database

    Půža, Vladimír; Chundelová, Daniela; Nermuť, Jiří; Žurovcová, Martina; Mráček, Zdeněk

    2015-01-01

    Roč. 60, č. 4 (2015), s. 547-554 ISSN 1386-6141 R&D Projects: GA ČR GAP504/12/2352 Grant - others:GA JU(CZ) 052/2013/P Institutional support: RVO:60077344 Keywords : Steinernema * genetic diversity * intra-individual variability Subject RIV: EG - Zoology Impact factor: 1.767, year: 2015 http://link.springer.com/article/10.1007%2Fs10526-015-9664-5

  13. Making the best of climatic variability: options for upgrading rainfed farming in water scarce regions.

    Science.gov (United States)

    Rockström, J

    2004-01-01

    Coping with climatic variability for livelihood security is part of everyday life for rural communities in semi-arid and dry sub-humid savannas. Water scarcity caused by rainfall fluctuations is common, causing meteorological droughts and dry spells. However, this paper indicates, based on experiences in sub-Saharan Africa and India, that the social impact on rural societies of climatically induced droughts is exaggerated. Instead, water scarcity causing food deficits is more often caused by management induced droughts and dry spells. A conceptual framework to distinguish between manageable and unmanageable droughts is presented. It is suggested that climatic droughts require focus on social resilience building instead of land and water resource management. Focus is then set on the manageable part of climatic variability, namely the almost annual occurrence of dry spells, short 2-4 week periods of no rainfall, affecting farmer yields. On-farm experiences in savannas of sub-Saharan Africa of water harvesting systems for dry spell mitigation are presented. It is shown that bridging dry spells combined with soil fertility management can double and even triple on-farm yield levels. Combined with innovative systems to ensure maximum plant water availability and water uptake capacity, through adoption of soil fertility improvement and conservation tillage systems, there is a clear opportunity to upgrade rainfed farming systems in vulnerable savanna environments, through appropriate local management of climatic variability.

  14. High interannual variability of sea ice thickness in the Arctic region.

    Science.gov (United States)

    Laxon, Seymour; Peacock, Neil; Smith, Doug

    2003-10-30

    Possible future changes in Arctic sea ice cover and thickness, and consequent changes in the ice-albedo feedback, represent one of the largest uncertainties in the prediction of future temperature rise. Knowledge of the natural variability of sea ice thickness is therefore critical for its representation in global climate models. Numerical simulations suggest that Arctic ice thickness varies primarily on decadal timescales owing to changes in wind and ocean stresses on the ice, but observations have been unable to provide a synoptic view of sea ice thickness, which is required to validate the model results. Here we use an eight-year time-series of Arctic ice thickness, derived from satellite altimeter measurements of ice freeboard, to determine the mean thickness field and its variability from 65 degrees N to 81.5 degrees N. Our data reveal a high-frequency interannual variability in mean Arctic ice thickness that is dominated by changes in the amount of summer melt, rather than by changes in circulation. Our results suggest that a continued increase in melt season length would lead to further thinning of Arctic sea ice.

  15. Modulating Calcium Signals to Boost AON Exon Skipping for DMD

    Science.gov (United States)

    2017-10-01

    for Public Release; Distribution Unlimited 13. SUPPLEMENTARY NOTES 14. ABSTRACT AON-mediated exon skipping is currently advancing as therapy for DMD...9 9. Appendices…………………………………………………………… 9 1 1. INTRODUCTION AON-AON-mediated exon skipping is currently advancing as therapy for DMD...CDMD inter-group meetings, an annual retreat, and hosting and attending seminars. While not a stated objective of this grant, trainee career

  16. ENSO variability reflected in precipitation oxygen isotopes across the Asian Summer Monsoon region

    Science.gov (United States)

    Cai, Zhongyin; Tian, Lide; Bowen, Gabriel J.

    2017-10-01

    Oxygen isotope signals (δ18O) from paleo-archives are important proxies for past Asian Summer Monsoon (ASM) climate reconstruction. However, causes of interannual variation in the δ18O values of modern precipitation across the ASM region remain in argument. We report interannual δ18O variation in southern Tibetan Plateau precipitation based on long-term observations at Lhasa. These data, together with precipitation δ18O records from five Global Network of Isotopes in Precipitation (GNIP) stations and two ice core δ18O records, were used to define a regional metric of ASM precipitation δ18O (ASMOI). Back-trajectory analyses for rainy season precipitation events indicate that moisture sources vary little between years with relatively high and low δ18O values, a result that is consistent for the south (Lhasa), southeast (Bangkok), and east ASM regions (Hong Kong). In contrast, δ18O values at these three locations are significantly correlated with convection in the estimated source regions and along transport paths. These results suggest that upstream convection, rather than moisture source change, causes interannual variation in ASM precipitation δ18O values. Contrasting values of the ASMOI in El Niño and La Niña years reveal a positive isotope-El Niño Southern Oscillation (ENSO) response (e.g., high values corresponding to warm phases), which we interpret as a response to changes in regional convection. We show that the isotope-ENSO response is amplified at high elevation sites and during La Niña years. These findings should improve interpretations of paleo-δ18O data as a proxy for past ASM variation and provide new opportunities to use data from this region to study paleo-ENSO activity.

  17. Precipitation and ice core isotopes from the Asian Summer Monsoon region reflect coherent ENSO variability

    Science.gov (United States)

    Cai, Z.; Tian, L.; Bowen, G. J.

    2017-12-01

    Oxygen isotope signals (δ18O) from paleo-archives are important proxies for past Asian Summer Monsoon (ASM) climate reconstruction. However, causes of interannual variation in the δ18O values of modern precipitation across the ASM region remain in argument. We report interannual δ18O variation in southern Tibetan Plateau precipitation based on long-term observations at Lhasa. These data, together with precipitation δ18O records from five Global Network of Isotopes in Precipitation (GNIP) stations and two ice core δ18O records, were used to define a regional metric of ASM precipitation δ18O (ASMOI). Back-trajectory analyses for rainy season precipitation events indicate that moisture sources vary little between years with relatively high and low δ18O values, a result that is consistent for the south (Lhasa), southeast (Bangkok), and east ASM regions (Hong Kong). In contrast, δ18O values at these three locations are significantly correlated with convection in the estimated source regions and along transport paths. These results suggest that upstream convection, rather than moisture source change, causes interannual variation in ASM precipitation δ18O values. Contrasting values of the ASMOI in El Niño and La Niña years reveal a positive isotope-El Niño Southern Oscillation (ENSO) response (e.g., high values corresponding to warm phases), which we interpret as a response to changes in regional convection. We show that the isotope-ENSO response is amplified at high elevation sites and during La Niña years. These findings should improve interpretations of paleo-δ18O data as a proxy for past ASM variation and provide new opportunities to use data from this region to study paleo-ENSO activity.

  18. Regional and depth variability of porcine meniscal mechanical properties through biaxial testing.

    Science.gov (United States)

    Kahlon, A; Hurtig, M B; Gordon, K D

    2015-01-01

    The menisci in the knee joint undergo complex loading in-vivo resulting in a multidirectional stress distribution. Extensive mechanical testing has been conducted to investigate the tissue properties of the knee meniscus, but the testing conditions do not replicate this complex loading regime. Biaxial testing involves loading tissue along two different directions simultaneously, which more accurately simulates physiologic loading conditions. The purpose of this study was to report mechanical properties of meniscal tissue resulting from biaxial testing, while simultaneously investigating regional variations in properties. Ten left, fresh porcine joints were obtained, and the medial and lateral menisci were harvested from each joint (twenty menisci total). Each menisci was divided into an anterior, middle and posterior region; and three slices (femoral, deep and tibial layers) were obtained from each region. Biaxial and constrained uniaxial testing was performed on each specimen, and Young's moduli were calculated from the resulting stress strain curves. Results illustrated significant differences in regional mechanical properties, with the medial anterior (Young's modulus (E)=11.14 ± 1.10 MPa), lateral anterior (E=11.54 ± 1.10 MPa) and lateral posterior (E=9.0 ± 1.2 MPa) regions exhibiting the highest properties compared to the medial central (E=5.0 ± 1.22 MPa), medial posterior (E=4.16 ± 1.13 MPa) and lateral central (E=5.6 ± 1.20 MPa) regions. Differences with depth were also significant on the lateral meniscus, with the femoral (E=12.7 ± 1.22 MPa) and tibial (E=8.6 ± 1.22 MPa) layers exhibiting the highest Young's moduli. This data may form the basis for future modeling of meniscal tissue, or may aid in the design of synthetic replacement alternatives. Copyright © 2014 Elsevier Ltd. All rights reserved.

  19. Variability of effects of spatial climate data aggregation on regional yield simulation by crop models

    NARCIS (Netherlands)

    Hoffmann, H.; Zhao, G.; Bussel, van L.G.J.

    2015-01-01

    Field-scale crop models are often applied at spatial resolutions coarser than that of the arable field. However, little is known about the response of the models to spatially aggregated climate input data and why these responses can differ across models. Depending on the model, regional yield

  20. Quantitative remote sensing for monitoring forest canopy structural variables in the Three Gorges region of China

    NARCIS (Netherlands)

    Zeng, Y.

    2008-01-01

    Bridging various scales ranging from local to regional and global, remote sensing has facilitated extraordinary advances in modeling and mapping ecosystems and their functioning. Since forests are one of the most important natural resources on the terrestrial Earth surface, accurate and up-to-date

  1. A mutation in an alternative untranslated exon of hexokinase 1 associated with Hereditary Motor and Sensory Neuropathy – Russe (HMSNR)

    Science.gov (United States)

    Hantke, Janina; Chandler, David; King, Rosalind; Wanders, Ronald JA; Angelicheva, Dora; Tournev, Ivailo; McNamara, Elyshia; Kwa, Marcel; Guergueltcheva, Velina; Kaneva, Radka; Baas, Frank; Kalaydjieva, Luba

    2009-01-01

    Hereditary Motor and Sensory Neuropathy – Russe (HMSNR) is a severe autosomal recessive disorder, identified in the Gypsy population. Our previous studies mapped the gene to 10q22-q23 and refined the gene region to ∼70 kb. Here we report the comprehensive sequencing analysis and fine mapping of this region, reducing it to ∼26 kb of fully characterised sequence spanning the upstream exons of Hexokinase 1 (HK1). We identified two sequence variants in complete linkage disequilibrium, a G>C in a novel alternative untranslated exon (AltT2) and a G>A in the adjacent intron, segregating with the disease in affected families and present in the heterozygote state in only 5/790 population controls. Sequence conservation of the AltT2 exon in 16 species with invariable preservation of the G allele at the mutated site, strongly favour the exonic change as the pathogenic mutation. Analysis of the Hk1 upstream region in mouse mRNA from testis and neural tissues showed an abundance of AltT2-containing transcripts generated by extensive, developmentally regulated alternative splicing. Expression is very low compared with ubiquitous Hk1 and all transcripts skip exon1, which encodes the protein domain responsible for binding to the outer mitochondrial membrane, and regulation of energy production and apoptosis. Hexokinase activity measurement and immunohistochemistry of the peripheral nerve showed no difference between patients and controls. The mutational mechanism and functional effects remain unknown and could involve disrupted translational regulation leading to increased anti-apoptotic activity (suggested by the profuse regenerative activity in affected nerves), or impairment of an unknown HK1 function in the peripheral nervous system (PNS). PMID:19536174

  2. A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR).

    Science.gov (United States)

    Hantke, Janina; Chandler, David; King, Rosalind; Wanders, Ronald J A; Angelicheva, Dora; Tournev, Ivailo; McNamara, Elyshia; Kwa, Marcel; Guergueltcheva, Velina; Kaneva, Radka; Baas, Frank; Kalaydjieva, Luba

    2009-12-01

    Hereditary Motor and Sensory Neuropathy -- Russe (HMSNR) is a severe autosomal recessive disorder, identified in the Gypsy population. Our previous studies mapped the gene to 10q22-q23 and refined the gene region to approximately 70 kb. Here we report the comprehensive sequencing analysis and fine mapping of this region, reducing it to approximately 26 kb of fully characterised sequence spanning the upstream exons of Hexokinase 1 (HK1). We identified two sequence variants in complete linkage disequilibrium, a G>C in a novel alternative untranslated exon (AltT2) and a G>A in the adjacent intron, segregating with the disease in affected families and present in the heterozygote state in only 5/790 population controls. Sequence conservation of the AltT2 exon in 16 species with invariable preservation of the G allele at the mutated site, strongly favour the exonic change as the pathogenic mutation. Analysis of the Hk1 upstream region in mouse mRNA from testis and neural tissues showed an abundance of AltT2-containing transcripts generated by extensive, developmentally regulated alternative splicing. Expression is very low compared with ubiquitous Hk1 and all transcripts skip exon1, which encodes the protein domain responsible for binding to the outer mitochondrial membrane, and regulation of energy production and apoptosis. Hexokinase activity measurement and immunohistochemistry of the peripheral nerve showed no difference between patients and controls. The mutational mechanism and functional effects remain unknown and could involve disrupted translational regulation leading to increased anti-apoptotic activity (suggested by the profuse regenerative activity in affected nerves), or impairment of an unknown HK1 function in the peripheral nervous system (PNS).

  3. Finding stability regions for preserving efficiency classification of variable returns to scale technology in data envelopment analysis

    Science.gov (United States)

    Zamani, P.; Borzouei, M.

    2016-12-01

    This paper addresses issue of sensitivity of efficiency classification of variable returns to scale (VRS) technology for enhancing the credibility of data envelopment analysis (DEA) results in practical applications when an additional decision making unit (DMU) needs to be added to the set being considered. It also develops a structured approach to assisting practitioners in making an appropriate selection of variation range for inputs and outputs of additional DMU so that this DMU be efficient and the efficiency classification of VRS technology remains unchanged. This stability region is simply specified by the concept of defining hyperplanes of production possibility set of VRS technology and the corresponding halfspaces. Furthermore, this study determines a stability region for the additional DMU within which, in addition to efficiency classification, the efficiency score of a specific inefficient DMU is preserved and also using a simulation method, a region in which some specific efficient DMUs become inefficient is provided.

  4. Cross-Regional Assessment Of Coupling And Variability In Precipitation-Runoff Relationships

    Science.gov (United States)

    Carey, S. K.; Tetzlaff, D.; Soulsby, C.; Buttle, J. M.; Laudon, H.; McDonnell, J. J.; McGuire, K. J.; Seibert, J.; Shanley, J. B.

    2011-12-01

    The higher mid-latitudes of the northern hemisphere are particularly sensitive to change due to the important role the zero-degree isotherm plays in the phase of precipitation and intermediate storage as snow. An international inter-catchment comparison program North-Watch seeks to improve our understanding of the sensitivity of northern catchments to change by examining their hydrological and biogeochemical variability and response. The catchments are located in Sweden (Krycklan), Scotland (Mharcaidh, Girnock and Strontian), the United States (Sleepers River, Hubbard Brook and HJ Andrews) and Canada (Catamaran, Dorset and Wolf Creek). For this study, 8 catchments with 10 continuous years of daily precipitation and runoff data were selected to assess the seasonal coupling of rainfall and runoff and the memory effect of runoff events on the hydrograph at different time scales. To assess the coupling and synchroneity of precipitation, continuous wavelet transforms and wavelet coherence were used. Wavelet spectra identified the relative importance of both annual versus seasonal flows while wavelet coherence was applied to identify over different time scales along the 10-year window how well precipitation and runoff were coupled. For example, while on a given day, precipitation may be closely coupled to runoff, a wet year may not necessarily be a high runoff year in catchments with large storage. Assessing different averaging periods in the variation of daily flows highlights the importance of seasonality in runoff response and the relative influence of rain versus snowmelt on flow magnitude and variability. Wet catchments with limited seasonal precipitation variability (Strontian, Girnock) have precipitation signals more closely coupled with runoff, whereas dryer catchments dominated by snow (Wolf Creek, Krycklan) have strongly coupling only during freshet. Most catchments with highly seasonal precipitation show strong intermittent coupling during their wet season. At

  5. On the cause of variability of the cosmic ray spectrum in the knee region

    Science.gov (United States)

    Loznikov, V. M.; Erokhin, N. S.; Zol'nikova, N. N.; Mikhailovskaya, L. A.

    2017-09-01

    Cosmic ray (CR) energy spectra for H, He, Si, and Fe nuclei with energy-to-charge number ratios ℰ/ Z in the range from 10 to 5 × 107 GeV are studied using observational data obtained at different times in different energy ranges: AMS-02, CREAM, Tibet ASγ, Tibet (hybrid), GRAPES-3, KASCADE, and KASCADE-Grande. Comparison of the H and He CR fluxes according to the KASCADE and KASCADE-Grande data (for different models of deconvolving CR spectra) with the Tibet ASγ and Tibet (hybrid) data obtained at another time in the range of ℰ/ Z ˜ 3 × 106 GeV demonstrates space weather-caused variability of the CR flux. This feature of CR energy spectra in the Tibet ASγ data is most clearly observed in the spectra of heavier nuclei (Si and Fe) according to the KASCADE-Grande and GRAPES-3 data. The variability in the energy spectra of all CRs in the vicinity of the "knee" is shown in the data of Yakutsk EAS, CASA-BLANCA, and Tibet-III experiments. The variability of the CR flux on a time scale on the order of several years exists only if the source corresponding to the peak in the energy spectrum is situated at a distance of no more than 1 pc from the Sun. Rapid surfatron acceleration of CRs may result from colliding interstellar clouds nearest to the Sun (LIC and G). This acceleration mechanism allows one to explain the variability of the CR spectrum in the range 103 GeV < ℰ/ Z < 108 GeV. Conditions for the trapping of strongly relativistic Fe nuclei by an electromagnetic wave, the dynamics of the components of the particle velocity and momentum, and the dependence of the particle acceleration rate on the initial parameters of the problem are analyzed using numerical calculations. The structure of the phase plane of the accelerated Fe nuclei is examined. Optimal conditions for the implementation of ultrarelativistic surfatron acceleration of Fe nuclei by an electromagnetic wave are formulated.

  6. Volumetric analysis of regional variability in the cerebellum of children with dyslexia.

    Science.gov (United States)

    Fernandez, Vindia G; Stuebing, Karla; Juranek, Jenifer; Fletcher, Jack M

    2013-12-01

    Cerebellar deficits and subsequent impairment in procedural learning may contribute to both motor difficulties and reading impairment in dyslexia. We used quantitative magnetic resonance imaging to investigate the role of regional variation in cerebellar anatomy in children with single-word decoding impairments (N = 23), children with impairment in fluency alone (N = 8), and typically developing children (N = 16). Children with decoding impairments (dyslexia) demonstrated no statistically significant differences in overall grey and white matter volumes or cerebellar asymmetry; however, reduced volume in the anterior lobe of the cerebellum relative to typically developing children was observed. These results implicate cerebellar involvement in dyslexia and establish an important foundation for future research on the connectivity of the cerebellum and cortical regions typically associated with reading impairment.

  7. Increased frequency of co-existing JAK2 exon-12 or MPL exon-10 mutations in patients with low JAK2(V617F) allelic burden.

    Science.gov (United States)

    Nussenzveig, Roberto H; Pham, Ha T; Perkins, Sherrie L; Prchal, Josef T; Agarwal, Archana M; Salama, Mohamed E

    2016-01-01

    The frequency of co-existing JAK2(V617F)/MPL and JAK2(V617F)/JAK2 exon-12 mutations has not been previously investigated in MPNs. Poor survival was reported in primary myelofibrosis with low JAK2(V617F) allelic burden. However, mutational status of JAK2 exon-12 or MPL were not reported in these patients. This study developed a cost-effective multiplex high resolution melt assay that screens for mutations in JAK2 gene exons-12 and -14 ((V617F)) and MPL gene exon-10. Co-existing mutations with JAK2(V617F) were detected in 2.9% (6/208; two JAK2 exon-12 and four MPL exon-10) patient specimens with known JAK2(V617F) (allelic-burden range: 0.1-96.8%). Co-existing mutations were detected in specimens with MPL exon-10 mutation should be pursued.

  8. Variable trajectory model for regional assessments of air pollution from sulfur compounds.

    Energy Technology Data Exchange (ETDEWEB)

    Powell, D.C.; McNaughton, D.J.; Wendell, L.L.; Drake, R.L.

    1979-02-01

    This report describes a sulfur oxides atmospheric pollution model that calculates trajectories using single-layer historical wind data as well as chemical transformation and deposition following discrete contaminant air masses. Vertical diffusion under constraints is calculated, but all horizontal dispersion is a funcion of trajectory variation. The ground-level air concentrations and deposition are calculated in a rectangular area comprising the northeastern United States and southeastern Canada. Calculations for a 29-day assessment period in April 1974 are presented along with a limited verification. Results for the studies were calculated using a source inventory comprising 61% of the anthropogenic SO/sub 2/ emissions. Using current model parameterization levels, predicted concentration values are most sensitive to variations in dry deposition of SO/sub 2/, wet deposition of sulfate, and transformation of SO/sub 2/ to sulfate. Replacing the variable mixed-layer depth and variable stability features of the model with constant definitions of each results in increased ground-level concentration predicions for SO/sub 2/ and particularly for sulfate.

  9. Explaining regional variation in home care use by demand and supply variables.

    Science.gov (United States)

    van Noort, Olivier; Schotanus, Fredo; van de Klundert, Joris; Telgen, Jan

    2018-02-01

    In the Netherlands, home care services like district nursing and personal assistance are provided by private service provider organizations and covered by private health insurance companies which bear legal responsibility for purchasing these services. To improve value for money, their procurement increasingly replaces fee-for-service payments with population based budgets. Setting appropriate population budgets requires adaptation to the legitimate needs of the population, whereas historical costs are likely to be influenced by supply factors as well, not all of which are necessarily legitimate. Our purpose is to explain home care costs in terms of demand and supply factors. This allows for adjusting historical cost patterns when setting population based budgets. Using expenses claims of 60 Dutch municipalities, we analyze eight demand variables and five supply variables with a multiple regression model to explain variance in the number of clients per inhabitant, costs per client and costs per inhabitant. Our models explain 69% of variation in the number of clients per inhabitant, 28% of costs per client and 56% of costs per inhabitant using demand factors. Moreover, we find that supply factors explain an additional 17-23% of variation. Predictors of higher utilization are home care organizations that are integrated with intramural nursing homes, higher competition levels among home care organizations and the availability of complementary services. Copyright © 2017. Published by Elsevier B.V.

  10. Inference of haplotypic phase and missing genotypes in polyploid organisms and variable copy number genomic regions

    Directory of Open Access Journals (Sweden)

    Balding David J

    2008-12-01

    Full Text Available Abstract Background The power of haplotype-based methods for association studies, identification of regions under selection, and ancestral inference, is well-established for diploid organisms. For polyploids, however, the difficulty of determining phase has limited such approaches. Polyploidy is common in plants and is also observed in animals. Partial polyploidy is sometimes observed in humans (e.g. trisomy 21; Down's syndrome, and it arises more frequently in some human tissues. Local changes in ploidy, known as copy number variations (CNV, arise throughout the genome. Here we present a method, implemented in the software polyHap, for the inference of haplotype phase and missing observations from polyploid genotypes. PolyHap allows each individual to have a different ploidy, but ploidy cannot vary over the genomic region analysed. It employs a hidden Markov model (HMM and a sampling algorithm to infer haplotypes jointly in multiple individuals and to obtain a measure of uncertainty in its inferences. Results In the simulation study, we combine real haplotype data to create artificial diploid, triploid, and tetraploid genotypes, and use these to demonstrate that polyHap performs well, in terms of both switch error rate in recovering phase and imputation error rate for missing genotypes. To our knowledge, there is no comparable software for phasing a large, densely genotyped region of chromosome from triploids and tetraploids, while for diploids we found polyHap to be more accurate than fastPhase. We also compare the results of polyHap to SATlotyper on an experimentally haplotyped tetraploid dataset of 12 SNPs, and show that polyHap is more accurate. Conclusion With the availability of large SNP data in polyploids and CNV regions, we believe that polyHap, our proposed method for inferring haplotypic phase from genotype data, will be useful in enabling researchers analysing such data to exploit the power of haplotype-based analyses.

  11. Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy

    Directory of Open Access Journals (Sweden)

    van Ommen Gert-Jan B

    2007-07-01

    Full Text Available Abstract Background Antisense-mediated exon skipping is currently one of the most promising therapeutic approaches for Duchenne muscular dystrophy (DMD. Using antisense oligonucleotides (AONs targeting specific exons the DMD reading frame is restored and partially functional dystrophins are produced. Following proof of concept in cultured muscle cells from patients with various deletions and point mutations, we now focus on single and multiple exon duplications. These mutations are in principle ideal targets for this approach since the specific skipping of duplicated exons would generate original, full-length transcripts. Methods Cultured muscle cells from DMD patients carrying duplications were transfected with AONs targeting the duplicated exons, and the dystrophin RNA and protein were analyzed. Results For two brothers with an exon 44 duplication, skipping was, even at suboptimal transfection conditions, so efficient that both exons 44 were skipped, thus generating, once more, an out-of-frame transcript. In such cases, one may resort to multi-exon skipping to restore the reading frame, as is shown here by inducing skipping of exon 43 and both exons 44. By contrast, in cells from a patient with an exon 45 duplication we were able to induce single exon 45 skipping, which allowed restoration of wild type dystrophin. The correction of a larger duplication (involving exons 52 to 62, by combinations of AONs targeting the outer exons, appeared problematic due to inefficient skipping and mistargeting of original instead of duplicated exons. Conclusion The correction of DMD duplications by exon skipping depends on the specific exons targeted. Its options vary from the ideal one, restoring for the first time the true, wild type dystrophin, to requiring more 'classical' skipping strategies, while the correction of multi-exon deletions may need the design of tailored approaches.

  12. Morphological variability and distribution of the exotic Asian Mesocyclops thermocyclopoides (Copepoda: Cyclopoida: in the Neotropical region

    Directory of Open Access Journals (Sweden)

    Eduardo Suárez-Morales

    2011-10-01

    Full Text Available From a series of biological samples collected from different freshwater environments in Costa Rica, Central America, the exotic Asian cyclopoid Mesocyclops thermocyclopoides Harada, 1931 was identified. We analyzed the morphology and appendage ornamentation of different Neotropical populations of this species, including specimens from Honduras, southeastern Mexico, and Costa Rica. We also examined Asian specimens from Taiwan, Indonesia, Vietnam, and Thailand, and performed a comparison of the Neotropical and Asian populations including a Principal Component Analysis (PCA. The Neotropical and Asian specimens show subtle morphological variations in the antennules, antennae, mandibles, swimming legs 1-4, and fifth legs. Some characters in the Neotropical group appear to diverge from the Asian pattern and the PCA indicated that intercontinental populations of M. thermocyclopoides are far from being homogeneous. These intra-specific differences are described to expand the known morphological range of this species and to provide the first comparative analysis of an exotic copepod in the Americas. Our analysis suggests that the geographic isolation of the American populations and the subtle morphological divergences with respect to the Asian patterns could be related to speciation processes in the Neotropical region, but also intra-Asian differences are reported. In the Neotropical region this species appears to be restricted to southeastern Mexico, Central America, and one Caribbean island; its potential as biological control of mosquito might enhance its spread in the region.

  13. Spatiotemporal Variability and Covariability of Temperature, Precipitation, Soil Moisture, and Vegetation in North America for Regional Climate Model Applications

    Science.gov (United States)

    Castro, C. L.; Beltran-Przekurat, A. B.; Pielke, R. A.

    2007-05-01

    Previous work has established that the dominant modes of Pacific SSTs influence the summer climate of North America through large-scale forcing, and this effect is most pronounced during the early part of the season. It is hypothesized, then, that land surface influences become more dominant in the latter part of the season as remote teleconnection influences diminish. As a first step toward investigation of this hypothesis in a regional climate model (RCM) framework, the statistically signficant spatiotemporal patterns of variability and covariability in North American precipitation (specified by the standardized precipitation index, or SPI), soil moisture, and vegetation are determined for timescales from a month to six months. To specify these respective data we use: CPC gauge- derived precipitation (1950-2000), Variable Infiltration Capacity (VIC) Model and NOAH Model NLDAS soil moisture and temperature, and the Global Inventory Modeling and Mapping Studies Normalized Difference Vegetation Index (GIMMS-NDVI). The principal statistical tool used is multiple taper frequency singular value decomposition (MTM-SVD), and this is supplemented by wavelet analysis for specific areas of interest. The significant interannual variability in all of these data occur at a timescale of about 7 to 9 years and appears to be the integrated effect of remote SST forcing from the Pacific. Considering the entire year, the spatial pattern for precipitation resembles the typical ENSO winter signature. If the summer season is considered seperately, the out of phase relationship between precipitation anomalies in the central U.S. and core monsoon region is apparent. The largest soil moisture anomalies occur in the central U.S., since precipitation in this region has a consistent relationship to Pacific SSTs for the entire year. This helps to explain the approximately 20 year periodicity in drought conditions there. Unlike soil moisture, the largest anomalies in vegetation occur in the

  14. Investigation of ANGPTL3 expression, exon sequence and promotor ...

    African Journals Online (AJOL)

    like proteins, has been demonstrated to affect lipid metabolism by inhibiting the activity of lipoprotein lipase (LPL). Objective: To compare the ANGPTL3 mRNA and protein expression, exon mutation and promoter district CpG island methylation ...

  15. Origin of introns by 'intronization' of exonic sequences

    DEFF Research Database (Denmark)

    Irimia, Manuel; Rukov, Jakob Lewin; Penny, David

    2008-01-01

    The mechanisms of spliceosomal intron creation have proved elusive. Here we describe a new mechanism: the recruitment of internal exonic sequences ('intronization') in Caenorhabditis species. The numbers of intronization events and introns gained by other mechanisms are similar, suggesting that i...

  16. Translational and Regulatory Challenges for Exon Skipping Therapies

    NARCIS (Netherlands)

    Aartsma-Rus, Annemieke; Ferlini, Alessandra; Goemans, Nathalie; Pasmooij, Anna M. G.; Wells, Dominic J.; Bushby, Katerine; Vroom, Elizabeth; Balabanov, Pavel

    2014-01-01

    Several translational challenges are currently impeding the therapeutic development of antisense-mediated exon skipping approaches for rare diseases. Some of these are inherent to developing therapies for rare diseases, such as small patient numbers and limited information on natural history and

  17. Antisense mediated exon skipping therapy for duchenne muscular dystrophy (DMD)

    DEFF Research Database (Denmark)

    Brolin, Camilla; Shiraishi, Takehiko

    2011-01-01

    Duchenne Muscular Dystrophy (DMD) is a lethal disease caused by mutations in the dystrophin gene (DMD) that result in the absence of essential muscle protein dystrophin. Among many different approaches for DMD treatment, exon skipping, mediated by antisense oligonucleotides, is one of the most...

  18. Variable-density ground-water flow and paleohydrology in the Waste Isolation Pilot Plant (WIPP) region, southeastern New Mexico

    International Nuclear Information System (INIS)

    Davies, P.B.

    1989-01-01

    Variable-density groundwater flow was studied near the Waste Isolation Pilot Plant in southeastern New Mexico. An analysis of the relative magnitude of pressure-related and density-related flow-driving forces indicates that density-related gravity effects are not significant at the plant and to the west but are significant in areas to the north, northeast, and south. A regional-scale model of variable-density groundwater flow in the Culebra Dolomite member of the Rustler Formation indicates that the flow velocities are relatively rapid west of the site and extremely slow east and northeast of the site. In the transition zone between those two extremes, which includes the plant, velocities are highly variable. Sensitivity simulations indicates that the central and western parts of the region, including the plant, are fairly well isolated from the eastern and northeastern boundaries. Vertical-flux simulations indicate that as much as 25% of total inflow to the Culebra could be entering as vertical flow, with most of this flow occurring west of the plant. A simple cross-sectional model was developed to examine the flow system as it drains through time following recharge during a past glacial pluvial. This model indicates that the system as a whole drains very slowly and that it apparently could have sustained flow from purely transient drainage following recharge of the system during the Pleistocene

  19. Long-Term Efficacy of Systemic Multiexon Skipping Targeting Dystrophin Exons 45–55 With a Cocktail of Vivo-Morpholinos in Mdx52 Mice

    Directory of Open Access Journals (Sweden)

    Yusuke Echigoya

    2015-01-01

    Full Text Available Antisense-mediated exon skipping, which can restore the reading frame, is a most promising therapeutic approach for Duchenne muscular dystrophy. Remaining challenges include the limited applicability to patients and unclear function of truncated dystrophin proteins. Multiexon skipping targeting exons 45–55 at the mutation hotspot of the dystrophin gene could overcome both of these challenges. Previously, we described the feasibility of exons 45–55 skipping with a cocktail of Vivo-Morpholinos in vivo; however, the long-term efficacy and safety of Vivo-Morpholinos remains to be determined. In this study, we examined the efficacy and toxicity of exons 45–55 skipping by intravenous injections of 6 mg/kg 10-Vivo-Morpholino cocktail (0.6 mg/kg each vPMO every 2 weeks for 18 weeks to dystrophic exon-52 knockout (mdx52 mice. Systemic skipping of the entire exons 45–55 region was induced, and the Western blot analysis exhibited the restoration of 5–27% of normal levels of dystrophin protein in skeletal muscles, accompanied by improvements in histopathology and muscle strength. No obvious immune response and renal and hepatic toxicity were detected at the end-point of the treatment. We demonstrate our new regimen with the 10-Vivo-Morpholino cocktail is effective and safe for long-term repeated systemic administration in the dystrophic mouse model.

  20. Tidal and sub-tidal sea level variability at the northern shelf of the Brazilian Northeast Region.

    Science.gov (United States)

    Frota, Felipe F; Truccolo, Eliane C; Schettini, Carlos A F

    2016-09-01

    A characterization of the sea level variability at tidal and sub-tidal frequencies at the northern shore of the Brazilian Northeast shelf for the period 2009-2011 is presented. The sea level data used was obtained from the Permanent Geodetic Tide Network from the Brazilian Institute of Geography and Statistics for the Fortaleza gauge station. Local wind data was also used to assess its effects on the low-frequency sea level variability. The variability of the sea level was investigated by classical harmonic analysis and by morphology assessment over the tidal signal. The low frequencies were obtained by low-pass filtering. The tidal range oscillated with the highest value of 3.3 m during the equinox and the lowest value of 0.7 m during the solstice. Differences between the spring and neap tides were as high as 1 m. A total of 59 tidal constituents were obtained from harmonic analysis, and the regional tide was classified as semi-diurnal pure with a form number of 0.11. An assessment of the monthly variability of the main tidal constituents (M2, S2, N2, O1, and K1) indicated that the main semi-diurnal solar S2 presented the highest variability, ranging from 0.21 to 0.41 m; it was the main element altering the form number through the years. The low frequency sea-level variability is negligible, although there is a persistent signal with an energy peak in the 10-15 day period, and it cannot be explained by the effects of local winds.

  1. Changes in intracranial morphology, regional cerebral water content and vital physiological variables during epidural bleeding

    International Nuclear Information System (INIS)

    Ganz, J.C.; Inst. of Surgical Research, National Hospital, Oslo; Thuomas, K.AA.; Inst. of Surgical Research, National Hospital, Oslo; Vlajkovic, S.; Inst. of Surgical Research, National Hospital, Oslo; Nilsson, P.; Inst. of Surgical Research, National Hospital, Oslo; Bergstroem, K.; Inst. of Surgical Research, National Hospital, Oslo; Ponten, U.; Inst. of Surgical Research, National Hospital, Oslo; Zwetnow, N.N.; Inst. of Surgical Research, National Hospital, Oslo

    1993-01-01

    Epidural bleeding was produced in 8 anaesthetised and heparinised dogs by an artificial system. Changes in vital physiological variables were related to intracranial shifts and tissue water content assessed with MR imaging. Six animals survived while 2 succumbed. In the surviving animals intracranial shifts and compressions remained unchanged from an early stage. The cerebral perfusion pressure was reduced from between 80 and 110 mm Hg to between 40 and 60 mm Hg. Some increase in supratentorial white matter tissue water was observed. In the lethal experiments cerebral perfusion pressure fell to less than 40 mm Hg. Moreover, secondary delayed anatomical changes were seen including hydrocephalus. Increase in cerebral tissue water was more intense and widespread than in the survivors. These findings indicate that the outcome of epidural bleeding is related to cerebral perfusion pressure with secondary deterioration resulting from additional volume loading from increased tissue water and hydrocephalus. (orig.)

  2. Multi-Site and Multi-Variables Statistical Downscaling Technique in the Monsoon Dominated Region of Pakistan

    Science.gov (United States)

    Khan, Firdos; Pilz, Jürgen

    2016-04-01

    South Asia is under the severe impacts of changing climate and global warming. The last two decades showed that climate change or global warming is happening and the first decade of 21st century is considered as the warmest decade over Pakistan ever in history where temperature reached 53 0C in 2010. Consequently, the spatio-temporal distribution and intensity of precipitation is badly effected and causes floods, cyclones and hurricanes in the region which further have impacts on agriculture, water, health etc. To cope with the situation, it is important to conduct impact assessment studies and take adaptation and mitigation remedies. For impact assessment studies, we need climate variables at higher resolution. Downscaling techniques are used to produce climate variables at higher resolution; these techniques are broadly divided into two types, statistical downscaling and dynamical downscaling. The target location of this study is the monsoon dominated region of Pakistan. One reason for choosing this area is because the contribution of monsoon rains in this area is more than 80 % of the total rainfall. This study evaluates a statistical downscaling technique which can be then used for downscaling climatic variables. Two statistical techniques i.e. quantile regression and copula modeling are combined in order to produce realistic results for climate variables in the area under-study. To reduce the dimension of input data and deal with multicollinearity problems, empirical orthogonal functions will be used. Advantages of this new method are: (1) it is more robust to outliers as compared to ordinary least squares estimates and other estimation methods based on central tendency and dispersion measures; (2) it preserves the dependence among variables and among sites and (3) it can be used to combine different types of distributions. This is important in our case because we are dealing with climatic variables having different distributions over different meteorological

  3. Hot regions of labile and stable soil organic carbon in Germany - Spatial variability and driving factors

    Science.gov (United States)

    Vos, Cora; Jaconi, Angélica; Jacobs, Anna; Don, Axel

    2018-06-01

    Atmospheric carbon dioxide levels can be mitigated by sequestering carbon in the soil. Sequestration can be facilitated by agricultural management, but its influence is not the same on all soil carbon pools, as labile pools with a high turnover may be accumulated much faster but are also more vulnerable to losses. The aims of this study were to (1) assess how soil organic carbon (SOC) is distributed among SOC fractions on a national scale in Germany, (2) identify factors influencing this distribution and (3) identify regions with high vulnerability to SOC losses. The SOC content and proportion of two different SOC fractions were estimated for more than 2500 mineral topsoils (soil texture, bulk soil C / N ratio, total SOC content and pH. For some regions, the drivers were linked to the land-use history of the sites. Arable topsoils in central and southern Germany were found to contain the highest proportions and contents of stable SOC fractions, and therefore have the lowest vulnerability to SOC losses. North-western Germany contains an area of sandy soils with unusually high SOC contents and high proportions of light SOC fractions, which are commonly regarded as representing a labile carbon pool. This is true for the former peat soils in this area, which have already lost and are at high risk of losing high proportions of their SOC stocks. Those black sands can, however, also contain high amounts of stable SOC due to former heathland vegetation and need to be treated and discussed separately from non-black sand agricultural soils. Overall, it was estimated that, in large areas all over Germany, over 30 % of SOC is stored in easily mineralisable forms. Thus, SOC-conserving management of arable soils in these regions is of great importance.

  4. Examining regional variability in work ethic within Mexico: Individual difference or shared value.

    Science.gov (United States)

    Arciniega, Luis M; Woehr, David J; Del Rincón, Germán A

    2018-02-19

    Despite the acceptance of work ethic as an important individual difference, little research has examined the extent to which work ethic may reflect shared environmental or socio-economic factors. This research addresses this concern by examining the influence of geographic proximity on the work ethic experienced by 254 employees from Mexico, working in 11 different cities in the Northern, Central and Southern regions of the country. Using a sequence of complementary analyses to assess the main source of variance on seven dimensions of work ethic, our results indicate that work ethic is most appropriately considered at the individual level. © 2018 International Union of Psychological Science.

  5. Observed Regional Climate Variability during the Last 50 Years in Reindeer Herding Cooperatives of Finnish Fell Lapland

    Directory of Open Access Journals (Sweden)

    Élise Lépy

    2017-10-01

    Full Text Available In Finnish Lapland, reindeer herders’ activity is strongly dependent on the surrounding natural environment, which is directly exposed to environmental changes and climatic variations. By assessing whether there is any evidence of change in climate in Fell Lapland over the last 50 years, this paper attempts to link global climatic trends with local conditions and respond to the need of information at the local level. It aims at assessing the changes in temperature, precipitation and snow cover at a regional and local scale, as well as determining the climatic trends for the period 1960–2011. Statistical methods were used to conduct analyses of the regional homogeneity, the annual and seasonal variability, and the cold intensity. The results show that the regional climate is not homogeneous and differences exist between locations. Nevertheless, it can be concluded that, in general, a warming trend is discernible for the period 1960–2011, frost and thaw cycles slightly increase, and variations in mean temperatures are more important in the winter. Precipitation is more variable according to the site but, in general, precipitation is increasing with time, especially in the winter, and the snow cover does not seem to contain any discernible trend.

  6. Multiresponse semiparametric regression for modelling the effect of regional socio-economic variables on the use of information technology

    Science.gov (United States)

    Wibowo, Wahyu; Wene, Chatrien; Budiantara, I. Nyoman; Permatasari, Erma Oktania

    2017-03-01

    Multiresponse semiparametric regression is simultaneous equation regression model and fusion of parametric and nonparametric model. The regression model comprise several models and each model has two components, parametric and nonparametric. The used model has linear function as parametric and polynomial truncated spline as nonparametric component. The model can handle both linearity and nonlinearity relationship between response and the sets of predictor variables. The aim of this paper is to demonstrate the application of the regression model for modeling of effect of regional socio-economic on use of information technology. More specific, the response variables are percentage of households has access to internet and percentage of households has personal computer. Then, predictor variables are percentage of literacy people, percentage of electrification and percentage of economic growth. Based on identification of the relationship between response and predictor variable, economic growth is treated as nonparametric predictor and the others are parametric predictors. The result shows that the multiresponse semiparametric regression can be applied well as indicate by the high coefficient determination, 90 percent.

  7. Obesity and Overweight Among Brazilian Early Adolescents: Variability Across Region, Socioeconomic Status, and Gender

    Directory of Open Access Journals (Sweden)

    Chris Fradkin

    2018-04-01

    Full Text Available IntroductionAs with most emerging nations, Brazil lacks up-to-date data on the prevalence of obesity and overweight among its children. Of particular concern is the lack of data on children in early adolescence, considered by many to be the crucial stage for weight-related healthcare.ObjectiveTo assess regional, socioeconomic, and gender differences in the prevalence of obesity and overweight among Brazilian early adolescents.MethodsA cross-sectional study was conducted on a racially diverse sample of students aged 10–13 years, from schools in three geographic regions (north, northeast, south (N = 1,738. Data on gender, age, race, socioeconomic status (SES, weight, and height were obtained. Weight class was calculated from age- and gender-adjusted body mass index, based on children’s weight and height. Bivariate and multivariable analyses, with post hoc tests, were conducted to estimate differences between groups and were corrected for multiple comparisons. Procedures were approved by institutional review boards at study sites.ResultsAnalyses revealed a higher prevalence of obesity and/or overweight among: (1 children of higher SES; (2 children in southern Brazil; (3 males; and (4 Black females.ConclusionThe most salient predictor of weight risk among Brazilian early adolescents is higher SES. This finding is consistent with previous findings of an inverse social gradient, in weight risk, among emerging-nation population groups.

  8. Seasonal variability of planktonic copepods (Copepoda: Crustacea in a tropical estuarine region in Brazil

    Directory of Open Access Journals (Sweden)

    Cristina de Oliveira Dias

    2009-12-01

    Full Text Available The Caravelas River estuary and adjacent coastal region were studied during the rainy and dry seasons of 2003-2004 to assess the copepod community structure. Abiotic and biotic parameters were measured, and the total density, frequency and percentage of copepod taxa were determined for each sampling period. Copepod densities showed significant differences between sampling periods, with higher densities in the rainy seasons (Mean: 90,941.80 ind.m-3; S.D.: 26,364.79. The sampling stations located to the north and south, in the coastal region adjacent to the Caravelas River estuary presented the lowest copepod density values. The copepod assemblage was composed mainly of estuarine and estuarine/coastal copepods. The seasonal variations in temperature and salinity influenced the abundance of species during the rainy and dry seasons, with the following dominant species alternating: Paracalanus quasimodo Bowman, 1971 in the rainy season of 2003, Parvocalanus crassirostris Dahl, 1894 in the dry season of 2003 and Acartia lilljeborgii Giesbrecht, 1892 in the rainy and dry seasons of 2004. Non-parametric multidimensional scaling indicated differences in copepod assemblages between sampling periods, but not between sampling stations.

  9. ESA STSE Project “Sea Surface Temperature Diurnal Variability: Regional Extend – Implications in Atmospheric Modelling”

    DEFF Research Database (Denmark)

    Karagali, Ioanna

    of the vertical extend of diurnal signals. Drifting buoys provide measurements close to the surface but are not always available. Moored buoys are generally not able to resolve the daily SST signal, which strongly weakens with depth within the upper water column. For such reasons, the General Ocean Turbulence......, atmospheric and oceanic modelling, bio-chemical processes and oceanic CO2 studies. The diurnal variability of SST, driven by the coincident occurrence of low enough wind and solar heating, is currently not properly understood. Atmospheric, oceanic and climate models are currently not adequately resolving...... the daily SST variability, resulting in biases of the total heat budget estimates and therefore, demised model accuracies. The ESA STSE funded project SSTDV:R.EX.-IM.A.M. aimed at characterising the regional extend of diurnal SST signals and their impact in atmospheric modelling. This study will briefly...

  10. Regional potential radiological consequences and their variability of failtRe events in a reprocessing plant

    International Nuclear Information System (INIS)

    Paretzke, H.G.; Friedland, W.; Geiss, H.; Muller, H.; Prohl, G.

    1984-01-01

    A computer program system has been developed for best estimate assessments of radiological consequences of accidental atmospheric releases of radionuclides. Computerized data bases as realistic as possible have been established and used describing weather sequences, land topography and usage, human population density, yield of agricultural products, etc. Input from the complex atmospheric transport program MUSEMEI and from the food chain program ECOSYS is combined with the main program BAMBUS to calculate site specific probability distributions for individual and regional collective exposures as functions of the time of year of the release, spatial location, exposure pathway, etc. In this paper, the principles of the program system are described and examples are given for its application to a selected hypothetical failure event in a reprocessing plant

  11. The variability and forcing of currents within a frontal region off the northeast coast of England

    Science.gov (United States)

    Gmitrowicz, E. M.; Brown, J.

    1993-08-01

    During the summer of 1988 a collaborative experiment between the Ministry of Agriculture, Fisheries and Food (MAFF), the Proudman Oceanographic Laboratory (POL) and University College North Wales (UCNW) was undertaken to study the dynamics of a near-shore frontal region off the northeast coast of England. The experiment is one of the most intensive studies of the current structure of a shelf sea front undertaken. Currents were measured using an ocean surface current RADAR (OSCR), ship-borne ADCP, Lagrangian drifters and moored current meters. The current meter moorings held conventional meters at mid-depth and near the bed and S4 electromagnetic current meters near the surface. The mean, low frequency (Continental Shelf Research, 1, 191-207) with some deviations due to nearshore effects.

  12. Variability of atmospheric aerosols at urban, regional and continental backgrounds in the western mediterranean basin

    OpenAIRE

    Pérez Lozano, Noemí

    2010-01-01

    Descripció del recurs: el 14 de febrer de 2011 El estudio de los niveles y composición del material particulado atmosférico (PM) medido simultáneamente en diferentes ambientes a escala regional se llevó a cabo en la cuenca del Mediterráneo Occidental con el fin de entender las fuentes y patrones de transformación y transporte de aerosoles en esta zona. Para esto, la medida de niveles y caracterización química de PM10, PM2.5 y PM1 se llevó a cabo en tres estaciones de monitoreo: Montsec (MS...

  13. Regional differences in low birth weight in Spain: biological, demographic and socioeconomic variables.

    Science.gov (United States)

    Fuster, Vicente; Zuluaga, Pilar; Colantonio, S E; Román-Busto, J

    2015-01-01

    The geographic and demographic dimensions of Spain, in terms of surface and number of inhabitants, and its heterogeneous socioeconomic development offer an adequate opportunity to study the provincial differences in birth weight from 1996 to 2010, focusing on possible factors determining the relative frequency of low birth weight. The study analysed geographic differences with regard to biological, demographic and socioeconomic factors that interfere with the female reproductive pattern. The variables considered here were: birth order, proportion of premature deliveries, mother's age, multiparity, mother's country of origin and professional qualifications. Two periods (1996-2000 and 2006-2010) were compared by means of principal components analysis. An increase in the relative frequency of deliveries weighing less than 2500 g occurred in most of the 52 geographic units studied, differences being significant in 42. Only in five cases was there a non-significant reduction in the proportion of low weight births. The first component after principal component analysis indicated that low birth weight was positively related to maternal age and to multiple deliveries, and negatively to the mother's low professional qualification. The second component related positively to the incidence of premature deliveries and to non-Spanish status and negatively in the case of primiparous mothers. The progressive increase in low birth weight incidence observed in Spain from 1996 onwards has occurred with considerable variation in each province. In part, this diversity can be attributed to the unequal reproductive patterns of immigrant mothers.

  14. 1990-2016 surface solar radiation variability and trend over the Piedmont region (northwest Italy)

    Science.gov (United States)

    Manara, Veronica; Bassi, Manuela; Brunetti, Michele; Cagnazzi, Barbara; Maugeri, Maurizio

    2018-05-01

    A new surface solar radiation database of 74 daily series is set up for the Piedmont region (northwest Italy) for the 1990-2016 period. All the series are subjected to a detailed quality control, homogenization and gap-filling procedure and are transformed into relative annual/seasonal anomaly series. Finally, a gridded version (0.5°×0.5°) of the database is generated. The resulting series show an increasing tendency of about + 2.5% per decade at annual scale, with strongest trend in autumn (+ 4% per decade). The only exception is winter, showing a negative but not significant trend. Considering the plain and mountain mean series, the trends are more intense for low than for high elevations with a negative vertical gradient of about - 0.03% per decade per 100 m at annual scale and values up to - 0.07% per decade per 100 m in spring. Focusing on clear days only (selected by CM SAF ClOud fractional cover dataset from METeosat first and second generation—Edition 1 satellite data over the 1991-2015 period), trend significance strongly increases and both low and high elevation records exhibit a positive trend in all seasons. However, the trends result slightly lower than for all-sky days (with the only exception of winter). The differences observed under clear-sky conditions between low and high elevations are more pronounced in winter, where the trend shows a negative vertical gradient of about - 0.1% per decade every 100 m. Overall, this paper shows how a high station density allows performing a more detailed quality control thanks to the higher performances in detecting the inhomogeneities with higher data availability and capturing regional peculiarities otherwise impossible to observe.

  15. Influence of Indian summer monsoon variability on the surface waves in the coastal regions of eastern Arabian Sea

    Digital Repository Service at National Institute of Oceanography (India)

    SanilKumar, V.; Jesbin, G.

    –885, 2016 www.ann-geophys.net/34/871/2016/ doi:10.5194/angeo-34-871-2016 © Author(s) 2016. CC Attribution 3.0 License. Influence of Indian summer monsoon variability on the surface waves in the coastal regions of eastern Arabian Sea V. Sanil Kumar and Jesbin... of the period. The annual average value is ∼ 1.5 m (Anoop et al., 2015). During the non-monsoon period, the land and sea breeze has a signif- icant influence on the wave climate of eastern AS (Glejin Ann. Geophys., 34, 871–885, 2016 www.ann-geophys.net/34...

  16. Characteristic time series and operation region of the system of two tank reactors (CSTR) with variable division of recirculation stream

    International Nuclear Information System (INIS)

    Merta, Henryk

    2006-01-01

    The paper deals with a system of a cascade of two tank reactors, being characterized by the variable stream of recirculating fluid at each stage. The assumed mathematical model enables one to determine the system's dynamics for the case when there is no time delay and for the opposite case. The time series of the conversion degree and of the dimensionless fluid temperature, characteristic for the system considered as well as the operation regions-the latter-basing on Feingenbaum diagrams with respect to the division ratio of the recirculating stream are presented

  17. Genetic variability and health of Norway spruce stands in the Regional Directorate of the State Forests in Krosno

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    Gutkowska Justyna

    2017-03-01

    Full Text Available The study was conducted in 2015 in six spruce stands situated in different forest districts administratively belonging to the Regional Directorate of State Forests in Krosno. Each spruce population was represented by 30 trees and assessed in terms of their current health status. Genetic analyses were performed on shoot samples from each tree using nine nuclear DNA markers and one mitochondrial DNA marker (nad1. The health status of the trees was described according to the classification developed by Szczepkowski and Tarasiuk (2005 and the correlation between health classes and the level of genetic variability was computed with STATISTICA (α = 0.05.

  18. Meteo-marine parameters for highly variable environment in coastal regions from satellite radar images

    Science.gov (United States)

    Pleskachevsky, A. L.; Rosenthal, W.; Lehner, S.

    2016-09-01

    The German Bight of the North Sea is the area with highly variable sea state conditions, intensive ship traffic and with a high density of offshore installations, e.g. wind farms in use and under construction. Ship navigation and the docking on offshore constructions is impeded by significant wave heights HS > 1.3 m. For these reasons, improvements are required in recognition and forecasting of sea state HS in the range 0-3 m. Thus, this necessitates the development of new methods to determine the distribution of meteo-marine parameters from remote sensing data with an accuracy of decimetres for HS. The operationalization of these methods then allows the robust automatic processing in near real time (NRT) to support forecast agencies by providing validations for model results. A new empirical algorithm XWAVE_C (C = coastal) for estimation of significant wave height from X-band satellite-borne Synthetic Aperture Radar (SAR) data has been developed, adopted for coastal applications using TerraSAR-X (TS-X) and Tandem-X (TD-X) satellites in the German Bight and implemented into the Sea Sate Processor (SSP) for fully automatic processing for NRT services. The algorithm is based on the spectral analysis of subscenes and the model function uses integrated image spectra parameters as well as local wind information from the analyzed subscene. The algorithm is able to recognize and remove the influence of non-sea state produced signals in the Wadden Sea areas such as dry sandbars as well as nonlinear SAR image distortions produced by e.g. short wind waves and breaking waves. Also parameters of very short waves, which are not visible in SAR images and produce only unsystematic clutter, can be accurately estimated. The SSP includes XWAVE_C, a pre-filtering procedure for removing artefacts such as ships, seamarks, buoys, offshore constructions and slicks, and an additional procedure performing a check of results based on the statistics of the whole scene. The SSP allows an

  19. The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data [version 1; referees: 2 approved

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    Shazia Mahamdallie

    2017-05-01

    Full Text Available Detection of deletions and duplications of whole exons (exon CNVs is a key requirement of genetic testing. Accurate detection of this variant type has proved very challenging in targeted next-generation sequencing (NGS data, particularly if only a single exon is involved. Many different NGS exon CNV calling methods have been developed over the last five years. Such methods are usually evaluated using simulated and/or in-house data due to a lack of publicly-available datasets with orthogonally generated results. This hinders tool comparisons, transparency and reproducibility. To provide a community resource for assessment of exon CNV calling methods in targeted NGS data, we here present the ICR96 exon CNV validation series. The dataset includes high-quality sequencing data from a targeted NGS assay (the TruSight Cancer Panel together with Multiplex Ligation-dependent Probe Amplification (MLPA results for 96 independent samples. 66 samples contain at least one validated exon CNV and 30 samples have validated negative results for exon CNVs in 26 genes. The dataset includes 46 exon CNVs in BRCA1, BRCA2, TP53, MLH1, MSH2, MSH6, PMS2, EPCAM or PTEN, giving excellent representation of the cancer predisposition genes most frequently tested in clinical practice. Moreover, the validated exon CNVs include 25 single exon CNVs, the most difficult type of exon CNV to detect. The FASTQ files for the ICR96 exon CNV validation series can be accessed through the European-Genome phenome Archive (EGA under the accession number EGAS00001002428.

  20. ROTATIONAL VARIABILITY OF EARTH'S POLAR REGIONS: IMPLICATIONS FOR DETECTING SNOWBALL PLANETS

    International Nuclear Information System (INIS)

    Cowan, Nicolas B.; Robinson, Tyler; Agol, Eric; Meadows, Victoria S.; Shields, Aomawa L.; Livengood, Timothy A.; Deming, Drake; A'Hearn, Michael F.; Wellnitz, Dennis D.; Charbonneau, David; Lisse, Carey M.; Seager, Sara

    2011-01-01

    We have obtained the first time-resolved, disk-integrated observations of Earth's poles with the Deep Impact spacecraft as part of the EPOXI mission of opportunity. These data mimic what we will see when we point next-generation space telescopes at nearby exoplanets. We use principal component analysis (PCA) and rotational light curve inversion to characterize color inhomogeneities and map their spatial distribution from these unusual vantage points, as a complement to the equatorial views presented by Cowan et al. in 2009. We also perform the same PCA on a suite of simulated rotational multi-band light curves from NASA's Virtual Planetary Laboratory three-dimensional spectral Earth model. This numerical experiment allows us to understand what sorts of surface features PCA can robustly identify. We find that the EPOXI polar observations have similar broadband colors as the equatorial Earth, but with 20%-30% greater apparent albedo. This is because the polar observations are most sensitive to mid-latitudes, which tend to be more cloudy than the equatorial latitudes emphasized by the original EPOXI Earth observations. The cloudiness of the mid-latitudes also manifests itself in the form of increased variability at short wavelengths in the polar observations and as a dominant gray eigencolor in the south polar observation. We construct a simple reflectance model for a snowball Earth. By construction, our model has a higher Bond albedo than the modern Earth; its surface albedo is so high that Rayleigh scattering does not noticeably affect its spectrum. The rotational color variations occur at short wavelengths due to the large contrast between glacier ice and bare land in those wavebands. Thus, we find that both the broadband colors and diurnal color variations of such a planet would be easily distinguishable from the modern-day Earth, regardless of viewing angle.

  1. Next-Generation Satellite Precipitation Products for Understanding Global and Regional Water Variability

    Science.gov (United States)

    Hou, Arthur Y.

    2011-01-01

    A major challenge in understanding the space-time variability of continental water fluxes is the lack of accurate precipitation estimates over complex terrains. While satellite precipitation observations can be used to complement ground-based data to obtain improved estimates, space-based and ground-based estimates come with their own sets of uncertainties, which must be understood and characterized. Quantitative estimation of uncertainties in these products also provides a necessary foundation for merging satellite and ground-based precipitation measurements within a rigorous statistical framework. Global Precipitation Measurement (GPM) is an international satellite mission that will provide next-generation global precipitation data products for research and applications. It consists of a constellation of microwave sensors provided by NASA, JAXA, CNES, ISRO, EUMETSAT, DOD, NOAA, NPP, and JPSS. At the heart of the mission is the GPM Core Observatory provided by NASA and JAXA to be launched in 2013. The GPM Core, which will carry the first space-borne dual-frequency radar and a state-of-the-art multi-frequency radiometer, is designed to set new reference standards for precipitation measurements from space, which can then be used to unify and refine precipitation retrievals from all constellation sensors. The next-generation constellation-based satellite precipitation estimates will be characterized by intercalibrated radiometric measurements and physical-based retrievals using a common observation-derived hydrometeor database. For pre-launch algorithm development and post-launch product evaluation, NASA supports an extensive ground validation (GV) program in cooperation with domestic and international partners to improve (1) physics of remote-sensing algorithms through a series of focused field campaigns, (2) characterization of uncertainties in satellite and ground-based precipitation products over selected GV testbeds, and (3) modeling of atmospheric processes and

  2. A ˜50 ka record of monsoonal variability in the Darjeeling foothill region, eastern Himalayas

    Science.gov (United States)

    Ghosh, Ruby; Bera, Subir; Sarkar, Anindya; Paruya, Dipak Kumar; Yao, Yi-Feng; Li, Cheng-Sen

    2015-04-01

    Pollen, phytoliths and δ 13C signatures of soil organic matter from two fluvial sedimentary sequences of the Darjeeling foothill region, eastern Himalayas are used to portray palaeoclimatic oscillations and their impact on regional plant communities over the last ˜50 ka. Quantitative palaeoclimate estimation using coexistence approach on pollen data and other proxies indicate significant oscillations in precipitation during the late part of MIS 3 (46.4-25.9 ka), early and middle part of MIS 2 (25.9-15.6 ka), and 5.4 to 3.5 ka. Middle to late MIS 3 (ca 46.4-31 ka.) was characterized by a comparatively low monsoonal activity and slightly higher temperature than that during ca 31 ka onwards. Simultaneous expansion of deciduous trees and chloridoid grasses also imply a drier and warmer phase. Between 31 and 22.3 ka (late MIS 3 to mid-MIS 2), higher precipitation and a slightly cooler temperature led to an increase in evergreen elements over deciduous taxa and wet-loving panicoid grasses over dry-loving chloridoid grasses than earlier. After ca 22.3 ka, shrinking of forest cover, expansion of C4 chloridoid grasses, Asteraceae and Cheno-ams in the vegetation with lowering of temperature and precipitation characterized the onset of the LGM which continued till 18.3 ka. End of the LGM is manifested by a restoration in the forest cover and in the temperature and precipitation regime. Later, during 5.4 to 4.3 ka, a strong monsoonal activity supported a dense moist evergreen forest cover that subsequently declined during 4.3 to 3.5 ka. A further increase in deciduous elements and non-arboreals might be a consequence of reduced precipitation and higher temperature during this phase. A comparison between monsoonal rainfall, MAT and palaeoatmospheric CO2 with floral dynamics since last ˜50 ka indicates that these fluctuations in plant succession were mainly driven by monsoonal variations.

  3. Functional Versatility of AGY Serine Codons in Immunoglobulin Variable Region Genes

    Directory of Open Access Journals (Sweden)

    Thiago Detanico

    2016-11-01

    Full Text Available In systemic autoimmunity, autoantibodies directed against nuclear antigens (Ag often arise by somatic hypermutation (SHM that converts AGT and AGC (AGY Ser codons into Arg codons. This can occur by three different single-base changes. Curiously, AGY Ser codons are far more abundant in complementarity-determining regions (CDRs of IgV-region genes than expected for random codon use or from species-specific codon frequency data. CDR AGY codons are also more abundant than TCN Ser codons. We show that these trends hold even in cartilaginous fishes. Because AGC is a preferred target for SHM by activation-induced cytidine deaminase (AID, we asked whether the AGY abundance was solely due to a selection pressure to conserve high mutability in CDRs regardless of codon context but found that this was not the case. Instead, AGY triplets were selectively enriched in the Ser codon reading frame. Motivated by reports implicating a functional role for poly/autoreactive specificities in anti-viral antibodies, we also analyzed mutations at AGY in antibodies directed against a number of different viruses, and found that mutations producing Arg codons in anti-viral antibodies were indeed frequent. Unexpectedly, however, we also found that AGY codons mutated often to encode nearly all of the amino acids that are reported to provide the most frequent contacts with antigen (Ag. In many cases, mutations producing codons for these alternative amino acids in anti-viral antibodies were more frequent than those producing Arg codons. Mutations producing each of these key amino acids required only single-base changes in AGY. AGY is the only codon group in which 2/3rds of random mutations generate codons for these key residues. Finally, by directly analyzing x-ray structures of immune complexes from the RCSB protein database, we found that Ag-contact residues generated via somatic hypermutation occurred more often at AGY than at any other codon group. Thus, preservation of

  4. ASSESSING GLOBAL CLIMATE VARIABILITY UNDER COLDEST AND WARMEST PERIODS AT DIFFERENT LATITUDINAL REGIONS

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    Eleonora Runtunuwu

    2016-10-01

    Full Text Available Effect of climate change on water balance will play a key role in the biosphere system. To study the global climate change impact on water balance during 95-year period (1901-1995, long-term grid climatic data including global mean monthly temperature and precipitation at 0.5 x 0.5 degree resolution were analysed. The trend and variation of climate change, the time series of monthly air temperature and precipitation data were aggregated into annual arithmetic means for two extreme periods (1901-1920 and 1990-1995. The potential evapotranspiration (Eo was calculated using Thornthwaite method.The changes in mean annual value were obtained by subtracting the maximum period data from 1990 to 1995 (Max with the minimum period data from 1901 to 1920 (Min. The results revealed that over 95-year period, mean global air temperature increased by 0.57oC. The temperature increase varied greatly in Asia, with more than 3.0oC, especially at 45-70oN, as well over the northern part of America (60-65oN and Europe (55- 75oN. In low latitude across Asia, Africa, and South America, the variation was less than 1.5oC. In 80-85ºN region, the variation was relatively small and at higher latitudes it increasedsignificantly. Precipitation varied temporally and spatially. In the 40-45ºN and 40-45ºS regions, increasing precipitation of more than 100 mm occurred during the June-August andSeptember-November, especially in the northern hemisphere. The Eo increase of 2000 mm during 95 years occurred in the tropical northern America, middle Africa, and South-East Asia. A grid in Central Java of Indonesia showed that the Eo increase of 2500 mm during 95 years resulted in the decrease of growing period by 100 days. In coping with climate change, adjustment of cropping calendar is imperative.

  5. Intra-seasonal and Inter-annual variability of Bowen Ratio over rain-shadow region of North peninsular India

    Science.gov (United States)

    Morwal, S. B.; Narkhedkar, S. G.; Padmakumari, B.; Maheskumar, R. S.; Deshpande, C. G.; Kulkarni, J. R.

    2017-05-01

    Intra-seasonal and inter-annual variability of Bowen Ratio (BR) have been studied over the rain-shadow region of north peninsular India during summer monsoon season. Daily grid point data of latent heat flux (LHF), sensible heat flux (SHF) from NCEP/NCAR Reanalysis for the period 1970-2014 have been used to compute daily area-mean BR. Daily grid point rainfall data at a resolution of 0.25° × 0.25° from APHRODITE's Water Resources for the available period 1970-2007 have been used to study the association between rainfall and BR. The study revealed that BR rapidly decreases from 4.1 to 0.29 in the month of June and then remains nearly constant at the same value (≤0.1) in the rest of the season. High values of BR in the first half of June are indicative of intense thermals and convective clouds with higher bases. Low values of BR from July to September period are indicative of weak thermals and convective clouds with lower bases. Intra-seasonal and inter-annual variability of BR is found to be inversely related to precipitation over the region. BR analysis indicates that the land surface characteristics of the study region during July-September are similar to that over oceanic regions as far as intensity of thermals and associated cloud microphysical properties are concerned. Similar variation of BR is found in El Nino and La Nina years. During June, an increasing trend is observed in SHF and BR and decreasing trend in LHF from 1976 to 2014. Increasing trend in the SHF is statistically significant.

  6. Biological and Molecular Variability of Alfalfa mosaic virus Affecting Alfalfa Crop in Riyadh Region

    Directory of Open Access Journals (Sweden)

    Mohammed A. AL-Saleh

    2013-12-01

    Full Text Available In 2011–2012, sixty nine samples were collected from alfalfa plants showing viral infection symptoms in Riyadh region. Mechanical inoculation with sap prepared from two collected samples out of twenty five possitive for Alfalfa mosaic virus (AMV by ELISA were produced systemic mosaic on Vigna unguiculata and Nicotiana tabacum, local lesion on Chenopodium amaranticolor and C. quinoa. Vicia faba indicator plants that induce mosaic and mottle with AMV-Sagir isolate and no infection with AMV-Wadi aldawasser isolate. Approximately 700-bp was formed by RT-PCR using AMV coat protein specific primer. Samples from infected alfalfa gave positive results, while healthy plant gave negative result using dot blot hybridization assay. The nucleotide sequences of the Saudi isolates were compared with corresponding viral nucleotide sequences reported in GenBank. The obtained results showed that the AMV from Australia, Brazil, Puglia and China had the highest similarity with AMV-Sajer isolate. While, the AMV from Spain and New Zealaland had the lowest similarity with AMV-Sajer and Wadi aldawasser isolates. The data obtained in this study has been deposited in the GenBank under the accession numbers KC434083 and KC434084 for AMV-Sajer and AMV- Wadialdawasser respectively. This is the first report regarding the gnetic make up of AMV in Saudi Arabia.

  7. Genetic variability and population structure of Plasmodium falciparum parasite populations from different malaria ecological regions of Kenya.

    Science.gov (United States)

    Ingasia, Luicer A; Cheruiyot, Jelagat; Okoth, Sheila Akinyi; Andagalu, Ben; Kamau, Edwin

    2016-04-01

    Transmission intensity, movement of human and vector hosts, biogeographical features, and malaria control measures are some of the important factors that determine Plasmodium falciparum parasite genetic variability and population structure. Kenya has different malaria ecologies which might require different disease intervention methods. Refined parasite population genetic studies are critical for informing malaria control and elimination strategies. This study describes the genetic diversity and population structure of P. falciparum parasites from the different malaria ecological zones in Kenya. Twelve multi-locus microsatellite (MS) loci previously described were genotyped in 225 P. falciparum isolates collected between 2012 and 2013 from five sites; three in lowland endemic regions (Kisumu, Kombewa, and Malindi) and two in highland, epidemic regions (Kisii and Kericho). Parasites from the lowland endemic and highland epidemic regions of western Kenya had high genetic diversity compared to coastal lowland endemic region of Kenya [Malindi]. The Kenyan parasites had a mean genetic differentiation index (FST) of 0.072 (p=0.011). The multi-locus genetic analysis of the 12 MS revealed all the parasites had unique haplotypes. Significant linkage disequilibrium (LD) was observed in all the five parasite populations. Kisumu had the most significant index of association values (0.16; pKenya after introduction of the artemether-lumefantrine is important in refining the spread of drug resistant strains and malaria transmission for more effective control and eventual elimination of malaria in Kenya. Copyright © 2015. Published by Elsevier B.V.

  8. Protection against syphilis correlates with specificity of antibodies to the variable regions of Treponema pallidum repeat protein K.

    Science.gov (United States)

    Morgan, Cecilia A; Lukehart, Sheila A; Van Voorhis, Wesley C

    2003-10-01

    Syphilis has been recognized as a disease since the late 1400s, yet there is no practical vaccine available. One impediment to the development of a vaccine is the lack of understanding of multiple reinfections in humans despite the development of robust immune responses during the first episode. It has been shown that the Treponema pallidum repeat protein K (TprK) differs in seven discrete variable (V) regions in isolates and that the antibody response during infection is directed to these V regions. Immunization with TprK confers significant protection against infection with the homologous strain. We hypothesize that the antigenic diversity of TprK is involved in immune evasion, which contributes to the lack of heterologous protection. Here, using the rabbit model, we show a correlation between limited heterologous protection and tprK diversity in the challenge inoculum. We demonstrate that antibody responses to the V regions of one TprK molecule show limited cross-reactivity with heterologous TprK V regions.

  9. Clinical characterisation of Becker muscular dystrophy patients predicts favourable outcome in exon-skipping therapy.

    Science.gov (United States)

    van den Bergen, J C; Schade van Westrum, S M; Dekker, L; van der Kooi, A J; de Visser, M; Wokke, B H A; Straathof, C S; Hulsker, M A; Aartsma-Rus, A; Verschuuren, J J; Ginjaar, H B

    2014-01-01

    Duchenne and Becker muscular dystrophy (DMD/BMD) are both caused by mutations in the DMD gene. Out-of-frame mutations in DMD lead to absence of the dystrophin protein, while in-frame BMD mutations cause production of internally deleted dystrophin. Clinically, patients with DMD loose ambulance around the age of 12, need ventilatory support at their late teens and die in their third or fourth decade due to pulmonary or cardiac failure. BMD has a more variable disease course. The disease course of patients with BMD with specific mutations could be very informative to predict the outcome of the exon-skipping therapy, aiming to restore the reading-frame in patients with DMD. Patients with BMD with a mutation equalling a DMD mutation after successful exon skipping were selected from the Dutch Dystrophinopathy Database. Information about disease course was gathered through a standardised questionnaire. Cardiac data were collected from medical correspondence and a previous study on cardiac function in BMD. Forty-eight patients were included, representing 11 different mutations. Median age of patients was 43 years (range 6-67). Nine patients were wheelchair users (26-56 years). Dilated cardiomyopathy was present in 7/36 patients. Only one patient used ventilatory support. Three patients had died at the age of 45, 50 and 76 years, respectively. This study provides mutation specific data on the course of disease in patients with BMD. It shows that the disease course of patients with BMD, with a mutation equalling a 'skipped' DMD mutation is relatively mild. This finding strongly supports the potential benefit of exon skipping in patients with DMD.

  10. Temporal Variability and Characterization of Aerosols across the Pakistan Region during the Winter Fog Periods

    Directory of Open Access Journals (Sweden)

    Muhammad Fahim Khokhar

    2016-05-01

    Full Text Available Fog is a meteorological/environmental phenomenon which happens across the Indo-Gangetic Plains (IGP and leads to significant social and economic problems, especially posing significant threats to public health and causing disruptions in air and road traffic. Meteorological stations in Pakistan provide limited information regarding fog episodes as these provide only point observations. Continuous monitoring, as well as a spatially coherent picture of fog distribution, is possible through the use of satellite observations. This study focuses on the 2012–2015 winter fog episodes over the Pakistan region using the Moderate Resolution Image Spectrometer (MODIS, the Ozone Monitoring Instrument and the Cloud-Aerosol Lidar and Infrared Pathfinder Satellite Observations (CALIPSO products. The main objective of the study was to map the spatial distribution of aerosols, their types, and to identify the aerosol origins during special weather conditions like fog in Pakistan. The study also included ground monitoring of particulate matter (PM concentrations, which were conducted during the 2014–2015 winter period only. Overall, this study is part of a multi-country project supported by the International Centre for Integrated Mountain Development (ICIMOD, started in 2014–2015 winter period, whereby scientists from Bangladesh, India and Nepal have also conducted measurements at their respective sites. A significant correlation between MODIS (AOD and AERONET Station (AOD data from Lahore was identified. Mass concentration of PM10 at all sampling sites within Lahore city exceeded the National Environmental Quality Standards (NEQS levels on most of the occasions. Smoke and absorbing aerosol were found to be major constituents of winter fog in Pakistan. Furthermore, an extended span of winter fog was also observed in Lahore city during the winter of 2014–2015. The Vertical Feature Mask (VFM provided by CALIPSO satellite confirmed the low-lying aerosol

  11. Interaction between the tidal and seasonal variability of the Gulf of Maine and Scotian Shelf region

    Science.gov (United States)

    Katavouta, Anna; Thompson, Keith; Lu, Youyu; Loder, John

    2017-04-01

    In the Gulf of Maine and Scotian Shelf (off the northeastern coast of North America) tides are large and can alter the local hydrographic properties, circulation, and sea surface height through processes such as tidal rectification, mixing, and horizontal advection. Furthermore, the stratification of the water column can influence tidal elevation and currents over the shelves (e.g., baroclinic tides). To investigate this interaction, a newly developed high resolution (1/36 degree) regional circulation model is used (GoMSS model). First, numerical experiments with and without density stratification are used to demonstrate the influence of stratification on the tides. GoMSS model is then used to interpret the physical mechanisms responsible for the largest seasonal variations in the M2 surface current which occur over, and to the north of, Georges Bank. An alternating pattern of highs and lows in the summer maximum M2 surface speed in the Gulf of Maine is identified, for the first time, in both the model output and observations by a high frequency coastal radar system. This pattern consists of extended striations in tidal speed aligned with the northern flank of Georges Bank that separates the Gulf of Maine from the North Atlantic. The striations are explained in terms of a linear superposition of the barotropic tide flowing across the northern flank of Georges Bank and the reflected, phase-locked baroclinic tide. The striations have amplitudes of about 0.1 m/s and longitudinal length scales of order 100 km, and are thus of practical significance.

  12. Predominant enteropathogens in acute diarrhea and associated variables in children at the Lambayeque Regional Hospital, Peru

    Directory of Open Access Journals (Sweden)

    Heber Silva-Díaz

    2017-01-01

    Full Text Available Objective: To determine the type and frequency of predominant enteropathogens in acute diarrhea and their associated characteristics in children treated at Hospital Regional Lambayeque (HRL - Peru. Materials and methods: A cross-sectional analytical study was carried out in 70 fecal samples between March and May 2015. These samples were studied by coproculture and immunochromatography for the detection of enteropathogenic bacteria and viruses, respectively, while enteroparasites were sought by direct microscopic examination, Kinyoun staining method and ELISA for the detection of coproantigens (Entamoeba histolytica, Giardia lamblia and Cryptosporidium spp. Leukocyte count and chemical tests (Benedict, Thevenon and Sudan III were also performed for the functional study of the diarrheal disease. Results: In 48.6% of the samples, the infectious etiology of diarrhea was detected, prevailing the parasitic cause (25.8%, followed by the bacterial (17.1% and viral (5.8% ones. The most common enteropathogens were G. lamblia (18.6% and Salmonella enteritidis (10.0%. An association between greater than 100 fecal leukocytes per field and the bacterial etiology (p=0.027 was observed, while less than 10 fecal leukocytes per field (p=0.002 and a positive Sudam III test (p=0.003 were associated with the parasitic etiology. Conclusions: In more than half of the samples (51.4% the infectious etiology of diarrhea could not be proven, whereas Giardia lamblia was the most frequent cause of diarrhea in the studied population. However, it is necessary to implement more sensitive and specific techniques for the detection of a greater range of enteropathogens with which to improve the diagnosis and treatment of the disease

  13. Cerebral perfusion computerized tomography: influence of reference vessels, regions of interest and interobserver variability

    International Nuclear Information System (INIS)

    Soustiel, Jean F.; Mor, Nadav; Zaaroor, Menashe; Goldsher, Dorith

    2006-01-01

    There are still no standardized guidelines for perfusion computerized tomography (PCT) analysis. A total of 61 PCT studies were analyzed using either the anterior cerebral artery (ACA) or the middle cerebral artery (MCA) as the arterial reference, and the superior sagittal sinus (SSS) or the vein of Galen (VG) as the venous reference. The sizes of regions of interest (ROI) were investigated comparing PCT results obtained using a hemispheric ROI combined with vascular pixel elimination with those obtained using five smaller ROIs located over the cortex and basal ganglia. In addition, interobserver variations were explored using a standardized protocol. MCA-based measurements of cerebral blood flow (CBF) and blood volume (CBV) were in accordance with those obtained with the ACA except in 16 patients with ischemic stroke, in whom CBF was overestimated by the ipsilateral MCA. Venous maximal intensity was significantly lower with the VG when compared with the SSS, resulting in overestimation of CBF and CBV. However, in 13.3% of patients the VG ROI yielded higher maximal intensities than the SSS ROI. There was no difference in PCT results between hemispheric ROI and averaged separate ROI when vascular pixel elimination was used. Finally, interobserver variations were as high as 11% for CBF and 12% for CBV. The present results suggest that pathological rather than anatomical considerations should dictate the choice of the arterial ROI. For venous ROI, although SSS seems to be adequate in most instances, deep cerebral veins may occasionally generate higher maximal intensities and should therefore be selected. Importantly, significant user-dependency should be taken into account. (orig.)

  14. Spatial and Temporal Variability of Some of Heavy Metals in Aerosols of Lenjanat Region, Esfahan

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    N. Namazi

    2016-02-01

    Full Text Available Introduction: Heavy metals released from stationaryand mobile origins can be transported in water, air and soil and can be even absorbed by plants, animals and human bodies. Trace elements are currently of great environmental concern. Nowadays, one of the most important environmental problems is pollution of agricultural soils occurs by heavy metals due to human activities. Atmospheric subsidence is one of the main sources of these elements which can result from industrial activities, fertilizers, sewage sludge, compost and pesticides. Heavy metals mapping of the atmosphere dusts indicates the status of pollution and its intensity in industrial regions. This information can also be used as a guideline for better management and pollution control. This study was performed to investigate the spatial and temporal availability of heavy metals in atmospheric dusts of Lenjanat region, Isfahan where agricultural land is extensively surrounded by industrial activities like steel making factory (Esfahan, cement making factory (Sepahan and Esfahan and Bamalead mine. Materials and Methods: Sampling was done from 60 points with the same altitude(three to six meters from the groundand their location was recorded by GPS. Glass traps (1×1 m2 covered by plastic mesh (2 × 2 cmvents were used to trap the dusts for four seasons of the year. Collected dust samples were passed through a 200 mm mesh screen size and the total weight of the dusts and the heavy metals content of Cd, Zn, Cu, Ni and Pbwere determined(with HNO3 60%. Data analysis was performed using Statistical 6.0 software. Analysis of spatial data via variogram was calculated and performed using Variowin, 2.2 software packages. After determination of the best fitting model, kriged maps of the total concentration of heavy metals were prepared by Surfer 8 software. Results and Discussion: The average concentrations of Zn, Pb and Cd in dust in most parts of the study area were much higher than the soil

  15. Variability of hepatitis C virus hypervariable region 1 (HVR-1) during the early phase of pegylated interferon and ribavirin therapy.

    Science.gov (United States)

    Caraballo Cortés, K; Laskus, T; Bukowska-Ośko, I; Pawełczyk, A; Berak, H; Horban, A; Fic, M; Radkowski, M

    2012-01-01

    Genetic variability of hepatitis C virus (HCV) is considered to be an important factor defining viral pathogenesis, persistence and resistance to treatment. The aim of the present study was to characterize HCV genetic heterogeneity within a hypervariable region 1 (HVR-1) before and during the early period of pegylated interferon alfa (PEG-IFN-α) and ribavirin treatment in correlation with treatment outcome. The study involved 24 patients treated with PEG-IFN-α and ribavirin whose sera were collected before (baseline) and at 7, 14, 21 28 and 56 day of treatment. HCV HVR-1 region was amplified by nested RT- PCR and subjected to SSCP (single strand conformational polymorphism) analysis. SSCP changes of HCV HVR-1 over time in each patient were compared to treatment outcome results. In 2/11 (18%) SVR+ and 8/13 (62%) SVR- treated patients, HVR-1 genetic changes manifested by new SSCP bands (new genetic variants) and were significantly more frequent in nonresponders (P HVR-1 variability during the early phase of PEG-IFN-α and ribavirin therapy may be predictive of treatment outcome.

  16. Suppression of Aggrus/podoplanin-induced platelet aggregation and pulmonary metastasis by a single-chain antibody variable region fragment

    International Nuclear Information System (INIS)

    Miyata, Kenichi; Takagi, Satoshi; Sato, Shigeo; Morioka, Hiroshi; Shiba, Kiyotaka; Minamisawa, Tamiko; Takami, Miho; Fujita, Naoya

    2014-01-01

    Almost all highly metastatic tumor cells possess high platelet aggregating abilities, thereby form large tumor cell-platelet aggregates in the microvasculature. Embolization of tumor cells in the microvasculature is considered to be the first step in metastasis to distant organs. We previously identified the platelet aggregation-inducing factor expressed on the surfaces of highly metastatic tumor cells and named as Aggrus. Aggrus was observed to be identical to the marker protein podoplanin (alternative names, T1α, OTS-8, and others). Aggrus is frequently overexpressed in several types of tumors and enhances platelet aggregation by interacting with the platelet receptor C-type lectin-like receptor 2 (CLEC-2). Here, we generated a novel single-chain antibody variable region fragment (scFv) by linking the variable regions of heavy and light chains of the neutralizing anti-human Aggrus monoclonal antibody MS-1 with a flexible peptide linker. Unfortunately, the generated KM10 scFv failed to suppress Aggrus-induced platelet aggregation in vitro. Therefore, we performed phage display screening and finally obtained a high-affinity scFv, K-11. K-11 scFv was able to suppress Aggrus-induced platelet aggregation in vitro. Moreover, K-11 scFv prevented the formation of pulmonary metastasis in vivo. These results suggest that K-11 scFv may be useful as metastasis inhibitory scFv and is expected to aid in the development of preclinical and clinical examinations of Aggrus-targeted cancer therapies

  17. Collaborative Proposal: Improving Decadal Prediction of Arctic Climate Variability and Change Using a Regional Arctic System Model (RASM)

    Energy Technology Data Exchange (ETDEWEB)

    Maslowski, Wieslaw [Naval Postgraduate School, Monterey, CA (United States)

    2016-10-17

    This project aims to develop, apply and evaluate a regional Arctic System model (RASM) for enhanced decadal predictions. Its overarching goal is to advance understanding of the past and present states of arctic climate and to facilitate improvements in seasonal to decadal predictions. In particular, it will focus on variability and long-term change of energy and freshwater flows through the arctic climate system. The project will also address modes of natural climate variability as well as extreme and rapid climate change in a region of the Earth that is: (i) a key indicator of the state of global climate through polar amplification and (ii) which is undergoing environmental transitions not seen in instrumental records. RASM will readily allow the addition of other earth system components, such as ecosystem or biochemistry models, thus allowing it to facilitate studies of climate impacts (e.g., droughts and fires) and of ecosystem adaptations to these impacts. As such, RASM is expected to become a foundation for more complete Arctic System models and part of a model hierarchy important for improving climate modeling and predictions.

  18. High-resolution spatial databases of monthly climate variables (1961-2010) over a complex terrain region in southwestern China

    Science.gov (United States)

    Wu, Wei; Xu, An-Ding; Liu, Hong-Bin

    2015-01-01

    Climate data in gridded format are critical for understanding climate change and its impact on eco-environment. The aim of the current study is to develop spatial databases for three climate variables (maximum, minimum temperatures, and relative humidity) over a large region with complex topography in southwestern China. Five widely used approaches including inverse distance weighting, ordinary kriging, universal kriging, co-kriging, and thin-plate smoothing spline were tested. Root mean square error (RMSE), mean absolute error (MAE), and mean absolute percentage error (MAPE) showed that thin-plate smoothing spline with latitude, longitude, and elevation outperformed other models. Average RMSE, MAE, and MAPE of the best models were 1.16 °C, 0.74 °C, and 7.38 % for maximum temperature; 0.826 °C, 0.58 °C, and 6.41 % for minimum temperature; and 3.44, 2.28, and 3.21 % for relative humidity, respectively. Spatial datasets of annual and monthly climate variables with 1-km resolution covering the period 1961-2010 were then obtained using the best performance methods. Comparative study showed that the current outcomes were in well agreement with public datasets. Based on the gridded datasets, changes in temperature variables were investigated across the study area. Future study might be needed to capture the uncertainty induced by environmental conditions through remote sensing and knowledge-based methods.

  19. Regional variability of grassland CO2 fluxes in Tyrol/Austria

    Science.gov (United States)

    Irschick, Christoph; Hammerle, Albin; Haslwanter, Alois; Wohlfahrt, Georg

    2010-05-01

    ecosystem respiration (RECO), (ii) GPP depended mainly on the amount of incident photosynthetically active radiation and the amount of green plant matter, the scale of influence of these two factors varying fourfold between the sites, and not so much on the available water, (iii) RECO was mainly affected by the soil temperature, but some evidence for priming effects was also found, (iv) the NEE was mainly influenced by GPP and to a lower extent by RECO. Taken together our results indicate that even within the same ecosystem type exposed to similar climate and land use, site selection may strongly affect the resulting NEE estimates. References: [1] D.D. Baldocchi, "Breathing of the terrestrial biosphere: lessons learned from a global network of carbon dioxide flux measurement systems", Australian Journal of Botany vol.56 (2008) pp. 1-26. [2] A. Hammerle, A. Haslwanter, U. Tappeiner, A. Cernusca, G. Wohlfahrt, "Leaf area controls on energy partitioning of a temperate mountain grassland", Biogeosciences vol.5 (2008) pp. 421 431. [3] G. Wohlfahrt, A. Hammerle, A. Haslwanter, M. Bahn, U. Tappeiner, A. Cernusca, "Seasonal and inter-annual variability of the net ecosystem CO2 exchange of a temperate mountain grassland: effects of weather and management", Journal of Geophysical Research 113 (2008) D08110, doi:10.1029/2007JD009286.

  20. A fusion protein of HCMV IE1 exon4 and IE2 exon5 stimulates potent cellular immunity in an MVA vaccine vector

    International Nuclear Information System (INIS)

    Wang, Z.; Zhou, W.; Srivastava, T.; La Rosa, C.; Mandarino, A.; Forman, S.J.; Zaia, J.A.; Britt, W.J.; Diamond, D.J.

    2008-01-01

    A therapeutic CMV vaccine incorporating an antigenic repertoire capable of eliciting a cellular immune response has yet to be successfully implemented for patients who already have acquired an infection. To address this problem, we have developed a vaccine candidate derived from modified vaccinia Ankara (MVA) that expresses three immunodominant antigens (pp65, IE1, IE2) from CMV. The novelty of this vaccine is the fusion of two adjacent exons from the immediate-early region of CMV, their successful expression in MVA, and robust immunogenicity in both primary and memory response models. Evaluation of the immunogenicity of the viral vaccine in mouse models shows that it can stimulate primary immunity against all three antigens in both the CD4 + and CD8 + T cell subsets. Evaluation of human PBMC from healthy CMV-positive donors or patients within 6 months of receiving hematopoietic cell transplant shows robust stimulation of existing CMV-specific CD4 + and CD8 + T cell subsets

  1. Interannual Variability of Regional Hadley Circulation Intensity Over Western Pacific During Boreal Winter and Its Climatic Impact Over Asia-Australia Region

    Science.gov (United States)

    Huang, Ruping; Chen, Shangfeng; Chen, Wen; Hu, Peng

    2018-01-01

    This study investigates interannual variability of boreal winter regional Hadley circulation over western Pacific (WPHC) and its climatic impacts. A WPHC intensity index (WPHCI) is defined as the vertical shear of the divergent meridional winds. It shows that WPHCI correlates well with the El Niño-Southern Oscillation (ENSO). To investigate roles of the ENSO-unrelated part of WPHCI (WPHCIres), variables that are linearly related to the Niño-3 index have been removed. It reveals that meridional sea surface temperature gradient over the western Pacific plays an essential role in modulating the WPHCIres. The climatic impacts of WPHCIres are further investigated. Below-normal (above-normal) precipitation appears over south China (North Australia) when WPHCIres is stronger. This is due to the marked convergence (divergence) anomalies at the upper troposphere, divergence (convergence) at the lower troposphere, and the accompanied downward (upward) motion over south China (North Australia), which suppresses (enhances) precipitation there. In addition, a pronounced increase in surface air temperature (SAT) appears over south and central China when WPHCIres is stronger. A temperature diagnostic analysis suggests that the increase in SAT tendency over central China is primarily due to the warm zonal temperature advection and subsidence-induced adiabatic heating. In addition, the increase in SAT tendency over south China is primarily contributed by the warm meridional temperature advection. Further analysis shows that the correlation of WPHCIres with the East Asian winter monsoon (EAWM) is weak. Thus, this study may provide additional sources besides EAWM and ENSO to improve understanding of the Asia-Australia climate variability.

  2. A DEL phenotype attributed to RHD Exon 9 sequence deletion: slipped-strand mispairing and blood group polymorphisms.

    Science.gov (United States)

    Lopez, Genghis H; Turner, Robyn M; McGowan, Eunike C; Schoeman, Elizna M; Scott, Stacy A; O'Brien, Helen; Millard, Glenda M; Roulis, Eileen V; Allen, Amanda J; Liew, Yew-Wah; Flower, Robert L; Hyland, Catherine A

    2018-03-01

    The RhD blood group antigen is extremely polymorphic and the DEL phenotype represents one such class of polymorphisms. The DEL phenotype prevalent in East Asian populations arises from a synonymous substitution defined as RHD*1227A. However, initially, based on genomic and cDNA studies, the genetic basis for a DEL phenotype in Taiwan was attributed to a deletion of RHD Exon 9 that was never verified at the genomic level by any other independent group. Here we investigate the genetic basis for a Caucasian donor with a DEL partial D phenotype and compare the genomic findings to those initial molecular studies. The 3'-region of the RHD gene was amplified by long-range polymerase chain reaction (PCR) for massively parallel sequencing. Primers were designed to encompass a deletion, flanking Exon 9, by standard PCR for Sanger sequencing. Targeted sequencing of exons and flanking introns was also performed. Genomic DNA exhibited a 1012-bp deletion spanning from Intron 8, across Exon 9 into Intron 9. The deletion breakpoints occurred between two 25-bp repeat motifs flanking Exon 9 such that one repeat sequence remained. Deletion mutations bordered by repeat sequences are a hallmark of slipped-strand mispairing (SSM) event. We propose this genetic mechanism generated the germline deletion in the Caucasian donor. Extensive studies show that the RHD*1227A is the most prevalent DEL allele in East Asian populations and may have confounded the initial molecular studies. Review of the literature revealed that the SSM model explains some of the extreme polymorphisms observed in the clinically significant RhD blood group antigen. © 2017 AABB.

  3. First report of a deletion encompassing an entire exon in the homogentisate 1,2-dioxygenase gene causing alkaptonuria.

    Science.gov (United States)

    Zouheir Habbal, Mohammad; Bou-Assi, Tarek; Zhu, Jun; Owen, Renius; Chehab, Farid F

    2014-01-01

    Alkaptonuria is often diagnosed clinically with episodes of dark urine, biochemically by the accumulation of peripheral homogentisic acid and molecularly by the presence of mutations in the homogentisate 1,2-dioxygenase gene (HGD). Alkaptonuria is invariably associated with HGD mutations, which consist of single nucleotide variants and small insertions/deletions. Surprisingly, the presence of deletions beyond a few nucleotides among over 150 reported deleterious mutations has not been described, raising the suspicion that this gene might be protected against the detrimental mechanisms of gene rearrangements. The quest for an HGD mutation in a proband with AKU revealed with a SNP array five large regions of homozygosity (5-16 Mb), one of which includes the HGD gene. A homozygous deletion of 649 bp deletion that encompasses the 72 nucleotides of exon 2 and surrounding DNA sequences in flanking introns of the HGD gene was unveiled in a proband with AKU. The nature of this deletion suggests that this in-frame deletion could generate a protein without exon 2. Thus, we modeled the tertiary structure of the mutant protein structure to determine the effect of exon 2 deletion. While the two β-pleated sheets encoded by exon 2 were missing in the mutant structure, other β-pleated sheets are largely unaffected by the deletion. However, nine novel α-helical coils substituted the eight coils present in the native HGD crystal structure. Thus, this deletion results in a deleterious enzyme, which is consistent with the proband's phenotype. Screening for mutations in the HGD gene, particularly in the Middle East, ought to include this exon 2 deletion in order to determine its frequency and uncover its origin.

  4. First report of a deletion encompassing an entire exon in the homogentisate 1,2-dioxygenase gene causing alkaptonuria.

    Directory of Open Access Journals (Sweden)

    Mohammad Zouheir Habbal

    Full Text Available Alkaptonuria is often diagnosed clinically with episodes of dark urine, biochemically by the accumulation of peripheral homogentisic acid and molecularly by the presence of mutations in the homogentisate 1,2-dioxygenase gene (HGD. Alkaptonuria is invariably associated with HGD mutations, which consist of single nucleotide variants and small insertions/deletions. Surprisingly, the presence of deletions beyond a few nucleotides among over 150 reported deleterious mutations has not been described, raising the suspicion that this gene might be protected against the detrimental mechanisms of gene rearrangements. The quest for an HGD mutation in a proband with AKU revealed with a SNP array five large regions of homozygosity (5-16 Mb, one of which includes the HGD gene. A homozygous deletion of 649 bp deletion that encompasses the 72 nucleotides of exon 2 and surrounding DNA sequences in flanking introns of the HGD gene was unveiled in a proband with AKU. The nature of this deletion suggests that this in-frame deletion could generate a protein without exon 2. Thus, we modeled the tertiary structure of the mutant protein structure to determine the effect of exon 2 deletion. While the two β-pleated sheets encoded by exon 2 were missing in the mutant structure, other β-pleated sheets are largely unaffected by the deletion. However, nine novel α-helical coils substituted the eight coils present in the native HGD crystal structure. Thus, this deletion results in a deleterious enzyme, which is consistent with the proband's phenotype. Screening for mutations in the HGD gene, particularly in the Middle East, ought to include this exon 2 deletion in order to determine its frequency and uncover its origin.

  5. Differential GC Content between Exons and Introns Establishes Distinct Strategies of Splice-Site Recognition

    Directory of Open Access Journals (Sweden)

    Maayan Amit

    2012-05-01

    Full Text Available During evolution segments of homeothermic genomes underwent a GC content increase. Our analyses reveal that two exon-intron architectures have evolved from an ancestral state of low GC content exons flanked by short introns with a lower GC content. One group underwent a GC content elevation that abolished the differential exon-intron GC content, with introns remaining short. The other group retained the overall low GC content as well as the differential exon-intron GC content, and is associated with longer introns. We show that differential exon-intron GC content regulates exon inclusion level in this group, in which disease-associated mutations often lead to exon skipping. This group's exons also display higher nucleosome occupancy compared to flanking introns and exons of the other group, thus “marking” them for spliceosomal recognition. Collectively, our results reveal that differential exon-intron GC content is a previously unidentified determinant of exon selection and argue that the two GC content architectures reflect the two mechanisms by which splicing signals are recognized: exon definition and intron definition.

  6. Alternative splicing of mutually exclusive exons--a review.

    Science.gov (United States)

    Pohl, Martin; Bortfeldt, Ralf H; Grützmann, Konrad; Schuster, Stefan

    2013-10-01

    Alternative splicing (AS) of pre-mRNAs in higher eukaryotes and several viruses is one major source of protein diversity. Usually, the following major subtypes of AS are distinguished: exon skipping, intron retention, and alternative 3' and 5' splice sites. Moreover, mutually exclusive exons (MXEs) represent a rare subtype. In the splicing of MXEs, two (or more) splicing events are not independent anymore, but are executed or disabled in a coordinated manner. In this review, several bioinformatics approaches for analyzing MXEs are presented and discussed. In particular, we revisit suitable definitions and nomenclatures, and bioinformatics tools for finding MXEs, adjacent and non-adjacent MXEs, clustered and grouped MXEs. Moreover, the molecular mechanisms for splicing MXEs proposed in the literature are reviewed and discussed. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  7. Multiplex amplification of large sets of human exons.

    Science.gov (United States)

    Porreca, Gregory J; Zhang, Kun; Li, Jin Billy; Xie, Bin; Austin, Derek; Vassallo, Sara L; LeProust, Emily M; Peck, Bill J; Emig, Christopher J; Dahl, Fredrik; Gao, Yuan; Church, George M; Shendure, Jay

    2007-11-01

    A new generation of technologies is poised to reduce DNA sequencing costs by several orders of magnitude. But our ability to fully leverage the power of these technologies is crippled by the absence of suitable 'front-end' methods for isolating complex subsets of a mammalian genome at a scale that matches the throughput at which these platforms will routinely operate. We show that targeting oligonucleotides released from programmable microarrays can be used to capture and amplify approximately 10,000 human exons in a single multiplex reaction. Additionally, we show integration of this protocol with ultra-high-throughput sequencing for targeted variation discovery. Although the multiplex capture reaction is highly specific, we found that nonuniform capture is a key issue that will need to be resolved by additional optimization. We anticipate that highly multiplexed methods for targeted amplification will enable the comprehensive resequencing of human exons at a fraction of the cost of whole-genome resequencing.

  8. OptMAVEn--a new framework for the de novo design of antibody variable region models targeting specific antigen epitopes.

    Directory of Open Access Journals (Sweden)

    Tong Li

    Full Text Available Antibody-based therapeutics provides novel and efficacious treatments for a number of diseases. Traditional experimental approaches for designing therapeutic antibodies rely on raising antibodies against a target antigen in an immunized animal or directed evolution of antibodies with low affinity for the desired antigen. However, these methods remain time consuming, cannot target a specific epitope and do not lead to broad design principles informing other studies. Computational design methods can overcome some of these limitations by using biophysics models to rationally select antibody parts that maximize affinity for a target antigen epitope. This has been addressed to some extend by OptCDR for the design of complementary determining regions. Here, we extend this earlier contribution by addressing the de novo design of a model of the entire antibody variable region against a given antigen epitope while safeguarding for immunogenicity (Optimal Method for Antibody Variable region Engineering, OptMAVEn. OptMAVEn simulates in silico the in vivo steps of antibody generation and evolution, and is capable of capturing the critical structural features responsible for affinity maturation of antibodies. In addition, a humanization procedure was developed and incorporated into OptMAVEn to minimize the potential immunogenicity of the designed antibody models. As case studies, OptMAVEn was applied to design models of neutralizing antibodies targeting influenza hemagglutinin and HIV gp120. For both HA and gp120, novel computational antibody models with numerous interactions with their target epitopes were generated. The observed rates of mutations and types of amino acid changes during in silico affinity maturation are consistent with what has been observed during in vivo affinity maturation. The results demonstrate that OptMAVEn can efficiently generate diverse computational antibody models with both optimized binding affinity to antigens and reduced

  9. Characteristics of aggregation of daily rainfall in a middle-latitudes region during a climate variability in annual rainfall amount

    Science.gov (United States)

    Lucero, Omar A.; Rozas, Daniel

    Climate variability in annual rainfall occurs because the aggregation of daily rainfall changes. A topic open to debate is whether that change takes place because rainfall becomes more intense, or because it rains more often, or a combination of both. The answer to this question is of interest for water resources planning, hydrometeorological design, and agricultural management. Change in the number of rainy days can cause major disruptions in hydrological and ecological systems, with important economic and social effects. Furthermore, the characteristics of daily rainfall aggregation in ongoing climate variability provide a reference to evaluate the capability of GCM to simulate changes in the hydrologic cycle. In this research, we analyze changes in the aggregation of daily rainfall producing a climate positive trend in annual rainfall in central Argentina, in the southern middle-latitudes. This state-of-the-art agricultural region has a semiarid climate with dry and wet seasons. Weather effects in the region influence world-market prices of several crops. Results indicate that the strong positive trend in seasonal and annual rainfall amount is produced by an increase in number of rainy days. This increase takes place in the 3-month periods January-March (summer) and April-June (autumn). These are also the 3-month periods showing a positive trend in the mean of annual rainfall. The mean of the distribution of annual number of rainy day (ANRD) increased in 50% in a 36-year span (starting at 44 days/year). No statistically significant indications on time changes in the probability distribution of daily rainfall amount were found. Non-periodic fluctuations in the time series of annual rainfall were analyzed using an integral wavelet transform. Fluctuations with a time scale of about 10 and 20 years construct the trend in annual rainfall amount. These types of non-periodic fluctuations have been observed in other regions of the world. This suggests that results of

  10. Multiple splicing defects in an intronic false exon.

    Science.gov (United States)

    Sun, H; Chasin, L A

    2000-09-01

    Splice site consensus sequences alone are insufficient to dictate the recognition of real constitutive splice sites within the typically large transcripts of higher eukaryotes, and large numbers of pseudoexons flanked by pseudosplice sites with good matches to the consensus sequences can be easily designated. In an attempt to identify elements that prevent pseudoexon splicing, we have systematically altered known splicing signals, as well as immediately adjacent flanking sequences, of an arbitrarily chosen pseudoexon from intron 1 of the human hprt gene. The substitution of a 5' splice site that perfectly matches the 5' consensus combined with mutation to match the CAG/G sequence of the 3' consensus failed to get this model pseudoexon included as the central exon in a dhfr minigene context. Provision of a real 3' splice site and a consensus 5' splice site and removal of an upstream inhibitory sequence were necessary and sufficient to confer splicing on the pseudoexon. This activated context also supported the splicing of a second pseudoexon sequence containing no apparent enhancer. Thus, both the 5' splice site sequence and the polypyrimidine tract of the pseudoexon are defective despite their good agreement with the consensus. On the other hand, the pseudoexon body did not exert a negative influence on splicing. The introduction into the pseudoexon of a sequence selected for binding to ASF/SF2 or its replacement with beta-globin exon 2 only partially reversed the effect of the upstream negative element and the defective polypyrimidine tract. These results support the idea that exon-bridging enhancers are not a prerequisite for constitutive exon definition and suggest that intrinsically defective splice sites and negative elements play important roles in distinguishing the real splicing signal from the vast number of false splicing signals.

  11. Variability in the sensitivity among model simulations of permafrost and carbon dynamics in the permafrost region between 1960 and 2009

    Science.gov (United States)

    McGuire, A. David; Koven, Charles; Lawrence, David M.; Clein, Joy S.; Xia, Jiangyang; Beer, Christian; Burke, Eleanor J.; Chen, Guangsheng; Chen, Xiaodong; Delire, Christine; Jafarov, Elchin; MacDougall, Andrew H.; Marchenko, Sergey S.; Nicolsky, Dmitry J.; Peng, Shushi; Rinke, Annette; Saito, Kazuyuki; Zhang, Wenxin; Alkama, Ramdane; Bohn, Theodore J.; Ciais, Philippe; Decharme, Bertrand; Ekici, Altug; Gouttevin, Isabelle; Hajima, Tomohiro; Hayes, Daniel J.; Ji, Duoying; Krinner, Gerhard; Lettenmaier, Dennis P.; Luo, Yiqi; Miller, Paul A.; Moore, John C.; Romanovsky, Vladimir; Schädel, Christina; Schaefer, Kevin; Schuur, Edward A.G.; Smith, Benjamin; Sueyoshi, Tetsuo; Zhuang, Qianlai

    2016-01-01

    A significant portion of the large amount of carbon (C) currently stored in soils of the permafrost region in the Northern Hemisphere has the potential to be emitted as the greenhouse gases CO2and CH4 under a warmer climate. In this study we evaluated the variability in the sensitivity of permafrost and C in recent decades among land surface model simulations over the permafrost region between 1960 and 2009. The 15 model simulations all predict a loss of near-surface permafrost (within 3 m) area over the region, but there are large differences in the magnitude of the simulated rates of loss among the models (0.2 to 58.8 × 103 km2 yr−1). Sensitivity simulations indicated that changes in air temperature largely explained changes in permafrost area, although interactions among changes in other environmental variables also played a role. All of the models indicate that both vegetation and soil C storage together have increased by 156 to 954 Tg C yr−1between 1960 and 2009 over the permafrost region even though model analyses indicate that warming alone would decrease soil C storage. Increases in gross primary production (GPP) largely explain the simulated increases in vegetation and soil C. The sensitivity of GPP to increases in atmospheric CO2 was the dominant cause of increases in GPP across the models, but comparison of simulated GPP trends across the 1982–2009 period with that of a global GPP data set indicates that all of the models overestimate the trend in GPP. Disturbance also appears to be an important factor affecting C storage, as models that consider disturbance had lower increases in C storage than models that did not consider disturbance. To improve the modeling of C in the permafrost region, there is the need for the modeling community to standardize structural representation of permafrost and carbon dynamics among models that are used to evaluate the permafrost C feedback and for the modeling and observational communities to

  12. Translational and regulatory challenges for exon skipping therapies.

    Science.gov (United States)

    Aartsma-Rus, Annemieke; Ferlini, Alessandra; Goemans, Nathalie; Pasmooij, Anna M G; Wells, Dominic J; Bushby, Katerine; Vroom, Elizabeth; Balabanov, Pavel

    2014-10-01

    Several translational challenges are currently impeding the therapeutic development of antisense-mediated exon skipping approaches for rare diseases. Some of these are inherent to developing therapies for rare diseases, such as small patient numbers and limited information on natural history and interpretation of appropriate clinical outcome measures. Others are inherent to the antisense oligonucleotide (AON)-mediated exon skipping approach, which employs small modified DNA or RNA molecules to manipulate the splicing process. This is a new approach and only limited information is available on long-term safety and toxicity for most AON chemistries. Furthermore, AONs often act in a mutation-specific manner, in which case multiple AONs have to be developed for a single disease. A workshop focusing on preclinical development, trial design, outcome measures, and different forms of marketing authorization was organized by the regulatory models and biochemical outcome measures working groups of Cooperation of Science and Technology Action: "Networking towards clinical application of antisense-mediated exon skipping for rare diseases." The workshop included participants from patient organizations, academia, and members of staff from the European Medicine Agency and Medicine Evaluation Board (the Netherlands). This statement article contains the key outcomes of this meeting.

  13. Immunoglobulin Heavy Chain Variable Region and Major Histocompatibility Region Genes Are Linked to Induced Graves' Disease in Females From Two Very Large Families of Recombinant Inbred Mice

    Science.gov (United States)

    Aliesky, Holly; Banuelos, Bianca; Magana, Jessica; Williams, Robert W.; Rapoport, Basil

    2014-01-01

    Graves' hyperthyroidism is caused by antibodies to the TSH receptor (TSHR) that mimic thyroid stimulation by TSH. Stimulating TSHR antibodies and hyperthyroidism can be induced by immunizing mice with adenovirus expressing the human TSHR A-subunit. Prior analysis of induced Graves' disease in small families of recombinant inbred (RI) female mice demonstrated strong genetic control but did not resolve trait loci for TSHR antibodies or elevated serum T4. We investigated the genetic basis for induced Graves' disease in female mice of two large RI families and combined data with earlier findings to provide phenotypes for 178 genotypes. TSHR antibodies measured by inhibition of TSH binding to its receptor were highly significantly linked in the BXD set to the major histocompatibility region (chromosome 17), consistent with observations in 3 other RI families. In the LXS family, we detected linkage between T4 levels after TSHR-adenovirus immunization and the Ig heavy chain variable region (Igvh, chromosome 12). This observation is a key finding because components of the antigen binding region of Igs determine antibody specificity and have been previously linked to induced thyroid-stimulating antibodies. Data from the LXS family provide the first evidence in mice of a direct link between induced hyperthyroidism and Igvh genes. A role for major histocompatibility genes has now been established for genetic susceptibility to Graves' disease in both humans and mice. Future studies using arrays incorporating variation in the complex human Ig gene locus will be necessary to determine whether Igvh genes are also linked to Graves' disease in humans. PMID:25051451

  14. The transfer of seasonal isotopic variability between precipitation and drip water at eight caves in the monsoon regions of China

    Science.gov (United States)

    Duan, Wuhui; Ruan, Jiaoyang; Luo, Weijun; Li, Tingyong; Tian, Lijun; Zeng, Guangneng; Zhang, Dezhong; Bai, Yijun; Li, Jilong; Tao, Tao; Zhang, Pingzhong; Baker, Andy; Tan, Ming

    2016-06-01

    This study presents new stable isotope data for precipitation (δ18Op) and drip water (δ18Od) from eight cave sites in the monsoon regions of China (MRC), with monthly to bi-monthly sampling intervals from May-2011 to April-2014, to investigate the regional-scale climate forcing on δ18Op and how the isotopic signals are transmitted to various drip sites. The monthly δ18Op values show negative correlation with surface air temperature at all the cave sites except Shihua Cave, which is opposite to that expected from the temperature effect. In addition, although the monthly δ18Op values are negatively correlated with precipitation at all the cave sites, only three sites are significant at the 95% level. These indicate that, due to the various vapor sources, a large portion of variability in δ18Op in the MRC cannot be explained simply by either temperature or precipitation alone. All the thirty-four drip sites are classified into three types based on the δ18Od variability. About 82% of them are static drips with little discernable variation in δ18Od through the whole study period, but the drip rates of these drips are not necessary constant. Their discharge modes are site-specific and the oxygen isotopic composition of the stalagmites growing from them may record the average of multi-year climatic signals, which are modulated by the seasonality of recharge and potential effects of evaporation, and in some cases infiltration from large rainfall events. About 12% of the thirty-four drip sites are seasonal drips, although the amplitude of δ18Od is narrower than that of δ18Op, the monthly response of δ18Od to coeval precipitation is not completely damped, and some of them follow the seasonal trend of δ18Op very well. These drips may be mainly recharged by present-day precipitation, mixing with some stored water. Thus, the stalagmites growing under them may record portions of the seasonal climatic signals embedded in δ18Op. About 6% of the thirty-four drip sites

  15. IDENTIFICATION OF THOSE VARIABLES THAT HAVE A SIGNIFICANT INFLUENCE ON THE EXPECTED NUMBER OF DAYS OF STAYING IN THE CENTRE DEVELOPMENT REGION OF ROMANIA

    Directory of Open Access Journals (Sweden)

    Erika KULCSÁR

    2010-06-01

    Full Text Available I started from the assumption that there are more variables that have a significant influence on the expected number of days of staying in the Centre Development Region. To identify those variables this paper includes the analysis of variance with two variables that are not interacting, in this case the dependent variable is the question "How many days did you plan to stay in Centre Development Region?" and the independent variables are: "What is the purpose of your stay?" "What is the highest level of education?". Given that there are cases when interactions occur between variables, I also analyzed the interaction effects between the two independent variables. The paper also includes an ANOVA analysis with three variables between which interactions relationships occur. After identifying the dependency relations between the variables I found that the inclusion of the third variable, namely the "Marital status" of respondents, adds value to the model. Following the results obtained by ANOVA analysis, I identified those socio-demographic characteristics that, in my opinion, companies that operate on tourist market in the Center Development Region should consider when fundamenting marketing strategies in tourism.

  16. Isotopic source signatures: Impact of regional variability on the δ13CH4 trend and spatial distribution

    Science.gov (United States)

    Feinberg, Aryeh I.; Coulon, Ancelin; Stenke, Andrea; Schwietzke, Stefan; Peter, Thomas

    2018-02-01

    The atmospheric methane growth rate has fluctuated over the past three decades, signifying variations in methane sources and sinks. Methane isotopic ratios (δ13CH4) differ between emission categories, and can therefore be used to distinguish which methane sources have changed. However, isotopic modelling studies have mainly focused on uncertainties in methane emissions rather than uncertainties in isotopic source signatures. We simulated atmospheric δ13CH4 for the period 1990-2010 using the global chemistry-climate model SOCOL. Empirically-derived regional variability in the isotopic signatures was introduced in a suite of sensitivity simulations. These simulations were compared to a baseline simulation with commonly used global mean isotopic signatures. We investigated coal, natural gas/oil, wetland, livestock, and biomass burning source signatures to determine whether regional variations impact the observed isotopic trend and spatial distribution. Based on recently published source signature datasets, our calculated global mean isotopic signatures are in general lighter than the commonly used values. Trends in several isotopic signatures were also apparent during the period 1990-2010. Tropical livestock emissions grew during the 2000s, introducing isotopically heavier livestock emissions since tropical livestock consume more C4 vegetation than midlatitude livestock. Chinese coal emissions, which are isotopically heavy compared to other coals, increase during the 2000s leading to higher global values of δ13CH4 for coal emissions. EDGAR v4.2 emissions disagree with the observed atmospheric isotopic trend for almost all simulations, confirming past doubts about this emissions inventory. The agreement between the modelled and observed δ13CH4 interhemispheric differences improves when regional source signatures are used. Even though the simulated results are highly dependent on the choice of methane emission inventories, they emphasize that the commonly used

  17. A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skipping.

    Directory of Open Access Journals (Sweden)

    Gemma L Walmsley

    2010-01-01

    Full Text Available Duchenne muscular dystrophy (DMD, which afflicts 1 in 3500 boys, is one of the most common genetic disorders of children. This fatal degenerative condition is caused by an absence or deficiency of dystrophin in striated muscle. Most affected patients have inherited or spontaneous deletions in the dystrophin gene that disrupt the reading frame resulting in unstable truncated products. For these patients, restoration of the reading frame via antisense oligonucleotide-mediated exon skipping is a promising therapeutic approach. The major DMD deletion "hot spot" is found between exons 45 and 53, and skipping exon 51 in particular is predicted to ameliorate the dystrophic phenotype in the greatest number of patients. Currently the mdx mouse is the most widely used animal model of DMD, although its mild phenotype limits its suitability in clinical trials. The Golden Retriever muscular dystrophy (GRMD model has a severe phenotype, but due to its large size, is expensive to use. Both these models have mutations in regions of the dystrophin gene distant from the commonly mutated DMD "hot spot".Here we describe the severe phenotype, histopathological findings, and molecular analysis of Cavalier King Charles Spaniels with dystrophin-deficient muscular dystrophy (CKCS-MD. The dogs harbour a missense mutation in the 5' donor splice site of exon 50 that results in deletion of exon 50 in mRNA transcripts and a predicted premature truncation of the translated protein. Antisense oligonucleotide-mediated skipping of exon 51 in cultured myoblasts from an affected dog restored the reading frame and protein expression.Given the small size of the breed, the amiable temperament and the nature of the mutation, we propose that CKCS-MD is a valuable new model for clinical trials of antisense oligonucleotide-induced exon skipping and other therapeutic approaches for DMD.

  18. Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter

    Energy Technology Data Exchange (ETDEWEB)

    Yanagawa, H.; Nishio, H.; Takeshima, Y. [Kobe Univ. School of Medicine (Japan)] [and others

    1994-09-01

    The dystrophin gene, which is muted in patients with Duchenne and Becker muscular dystrophies, is the largest known human gene. Five alternative promoters have been characterized until now. Here we show that a novel dystrophin isoform with a different first exon can be produced through transcription initiation at a previously-unidentified alternative promoter. The case study presented is that of patient with Duchenne muscular dystrophy who had a deletion extending from 5{prime} end of the dystrophin gene to exon 2, including all promoters previously mapped in the 5{prime} part of the gene. Transcripts from lymphoblastoid cells were found to contain sequences corresponding to exon 3, indicating the presence of new promoter upstream of this exon. The nucleotide sequence of amplified cDNA corresponding to the 5{prime} end of the new transcript indicated that the 5{prime} end of exon 3 was extended by 9 codons, only the last (most 3{prime}) of which codes for methionine. The genomic nucleotide sequence upstream from the new exon, as determined using inverse polymerase chain reaction, revealed the presence of sequences similar to a TATA box, an octamer motif and an MEF-2 element. The identified promoter/exon did not map to intron 2, as might have been expected, but to a position more than 500 kb upstream of the most 5{prime} of the previously-identified promoters, thereby adding 500 kb to the dystrophin gene. The sequence of part of the new promoter region is very similar to that of certain medium reiteration frequency repetitive sequences. These findings may help us understand the molecular evolution of the dystrophin gene.

  19. Predicting superdeformed rotational band-head spin in A ∼ 190 mass region using variable moment of inertia model

    International Nuclear Information System (INIS)

    Uma, V.S.; Goel, Alpana; Yadav, Archana; Jain, A.K.

    2016-01-01

    The band-head spin (I 0 ) of superdeformed (SD) rotational bands in A ∼ 190 mass region is predicted using the variable moment of inertia (VMI) model for 66 SD rotational bands. The superdeformed rotational bands exhibited considerably good rotational property and rigid behaviour. The transition energies were dependent on the prescribed band-head spins. The ratio of transition energies over spin Eγ/ 2 I (RTEOS) vs. angular momentum (I) have confirmed the rigid behaviour, provided the band-head spin value is assigned correctly. There is a good agreement between the calculated and the observed transition energies. This method gives a very comprehensive interpretation for spin assignment of SD rotational bands which could help in designing future experiments for SD bands. (author)

  20. Seasonal Variability in Regional Ice Flow Due to Meltwater Injection Into the Shear Margins of Jakobshavn Isbræ

    Science.gov (United States)

    Cavanagh, J. P.; Lampkin, D. J.; Moon, T.

    2017-12-01

    The impact of meltwater injection into the shear margins of Jakobshavn Isbræ via drainage from water-filled crevasses on ice flow is examined. We use Landsat-8 Operational Land Imager panchromatic, high-resolution imagery to monitor the spatiotemporal variability of seven water-filled crevasse ponds during the summers of 2013 to 2015. The timing of drainage from water-filled crevasses coincides with an increase of 2 to 20% in measured ice velocity beyond Jakobshavn Isbræ shear margins, which we define as extramarginal ice velocity. Some water-filled crevasse groups demonstrate multiple drainage events within a single melt season. Numerical simulations show that hydrologic shear weakening due to water-filled crevasse drainage can accelerate extramarginal flow by as much as 35% within 10 km of the margins and enhance mass flux through the shear margins by 12%. This work demonstrates a novel mechanism through which surface melt can influence regional ice flow.

  1. Idiotypes as immunogens: facing the challenge of inducing strong therapeutic immune responses against the variable region of immunoglobulins

    International Nuclear Information System (INIS)

    López-Requena, Alejandro; Burrone, Oscar R.; Cesco-Gaspere, Michela

    2012-01-01

    Idiotype (Id)-based immunotherapy has been exploited as cancer treatment option. Conceived as therapy for malignancies bearing idiotypic antigens, it has been also extended to solid tumors because of the capacity of anti-idiotypic antibodies to mimic Id-unrelated antigens. In both these two settings, efforts are being made to overcome the poor immune responsiveness often experienced when using self immunoglobulins as immunogens. Despite bearing a unique gene combination, and thus particular epitopes, it is normally difficult to stimulate the immune response against antibody variable regions. Different strategies are currently used to strengthen Id immunogenicity, such as concomitant use of immune-stimulating molecules, design of Id-containing immunogenic recombinant proteins, specific targeting of relevant immune cells, and genetic immunization. This review focuses on the role of anti-Id vaccination in cancer management and on the current developments used to foster anti-idiotypic B and T cell responses.

  2. Idiotypes as immunogens: facing the challenge of inducing strong therapeutic immune responses against the variable region of immunoglobulins

    Energy Technology Data Exchange (ETDEWEB)

    López-Requena, Alejandro [Molecular Immunology Group, International Centre for Genetic Engineering and Biotechnology, Trieste (Italy); Immunobiology Division, Center of Molecular Immunology, Havana (Cuba); Bioengineering Research Institute, Biotech Pharmaceutical Co., Ltd, Beijing (China); Burrone, Oscar R.; Cesco-Gaspere, Michela, E-mail: cescogaspere@gmail.com [Molecular Immunology Group, International Centre for Genetic Engineering and Biotechnology, Trieste (Italy)

    2012-11-09

    Idiotype (Id)-based immunotherapy has been exploited as cancer treatment option. Conceived as therapy for malignancies bearing idiotypic antigens, it has been also extended to solid tumors because of the capacity of anti-idiotypic antibodies to mimic Id-unrelated antigens. In both these two settings, efforts are being made to overcome the poor immune responsiveness often experienced when using self immunoglobulins as immunogens. Despite bearing a unique gene combination, and thus particular epitopes, it is normally difficult to stimulate the immune response against antibody variable regions. Different strategies are currently used to strengthen Id immunogenicity, such as concomitant use of immune-stimulating molecules, design of Id-containing immunogenic recombinant proteins, specific targeting of relevant immune cells, and genetic immunization. This review focuses on the role of anti-Id vaccination in cancer management and on the current developments used to foster anti-idiotypic B and T cell responses.

  3. THE EVOLUTION OF ANNUAL MEAN TEMPERATURE AND PRECIPITATION QUANTITY VARIABILITY BASED ON ESTIMATED CHANGES BY THE REGIONAL CLIMATIC MODELS

    Directory of Open Access Journals (Sweden)

    Paula Furtună

    2013-03-01

    Full Text Available Climatic changes are representing one of the major challenges of our century, these being forcasted according to climate scenarios and models, which represent plausible and concrete images of future climatic conditions. The results of climate models comparison regarding future water resources and temperature regime trend can become a useful instrument for decision makers in choosing the most effective decisions regarding economic, social and ecologic levels. The aim of this article is the analysis of temperature and pluviometric variability at the closest grid point to Cluj-Napoca, based on data provided by six different regional climate models (RCMs. Analysed on 30 year periods (2001-2030,2031-2060 and 2061-2090, the mean temperature has an ascending general trend, with great varability between periods. The precipitation expressed trough percentage deviation shows a descending general trend, which is more emphazied during 2031-2060 and 2061-2090.

  4. A quantitative magnetic resonance histology atlas of postnatal rat brain development with regional estimates of growth and variability.

    Science.gov (United States)

    Calabrese, Evan; Badea, Alexandra; Watson, Charles; Johnson, G Allan

    2013-05-01

    There has been growing interest in the role of postnatal brain development in the etiology of several neurologic diseases. The rat has long been recognized as a powerful model system for studying neuropathology and the safety of pharmacologic treatments. However, the complex spatiotemporal changes that occur during rat neurodevelopment remain to be elucidated. This work establishes the first magnetic resonance histology (MRH) atlas of the developing rat brain, with an emphasis on quantitation. The atlas comprises five specimens at each of nine time points, imaged with eight distinct MR contrasts and segmented into 26 developmentally defined brain regions. The atlas was used to establish a timeline of morphometric changes and variability throughout neurodevelopment and represents a quantitative database of rat neurodevelopment for characterizing rat models of human neurologic disease. Published by Elsevier Inc.

  5. Seasonal variability in virtual height of ionospheric f/sub 2/ layer at the pakistan atmospheric region

    International Nuclear Information System (INIS)

    Jilani, A.A.; Afridi, F.A.K.; Mian, K.; Zai, M.A.K.Y.

    2013-01-01

    The aim of this study was to assess the seasonal variability in virtual height of ionospheric F/sub 2/ layer for Pakistan's atmospheric region (PAR). In this communication virtual height variations have been analyzed by the descriptive statistical techniques. These methodologies comprise an autoregressive strategy, linear regression and polynomial regression. The relevance of these models has been illuminated using predicted values of different parameters under the seasonal variation of ionospheric F/sub 2/ layer in virtual height that affect the radio wave propagation through the ionosphere. These techniques are implemented to theorize the physical process of varying the virtual heights that leads this study towards formulating the variations due to interaction of radio wave propagation with this ionospheric layer. (author)

  6. Description, evaluation and clinical decision making according to various fetal heart rate patterns. Inter-observer and regional variability

    DEFF Research Database (Denmark)

    Lidegaard, O; Bøttcher, L M; Weber, Tom

    1992-01-01

    departments, especially between departments far apart. It is concluded that we still need a scientific clarification of which specific heart rate changes are the best predictors of fetal stress. Artificial intelligence programs for interpreting fetal cardiotocograms and ECG signals constitute one promising......At 10 Danish obstetrical departments, 116 residents (42 senior and 74 junior) participated in a study to assess inter-observer and regional variability in the description and evaluation of and clinical decision regarding 11 fetal heart rate patterns. The 11 traces included normal as well...... as pathological patterns, and normal as well as clinically asphyxiated babies. Five antepartum and six intrapartum patterns were included. A total of 1,276 descriptions and evaluations were obtained. The degree of agreement in description of fetal heart rate changes was high regarding the baseline...

  7. Efficient use of a translation start codon in BDNF exon I.

    Science.gov (United States)

    Koppel, Indrek; Tuvikene, Jürgen; Lekk, Ingrid; Timmusk, Tõnis

    2015-09-01

    The brain-derived neurotrophic factor (BDNF) gene contains a number of 5' exons alternatively spliced with a common 3' exon. BDNF protein is synthesized from alternative transcripts as a prepro-precursor encoded by the common 3' exon IX, which has a translation start site 21 bp downstream of the splicing site. BDNF mRNAs containing exon I are an exception to this arrangement as the last three nucleotides of this exon constitute an in-frame AUG. Here, we show that this AUG is efficiently used for translation initiation in PC12 cells and cultured cortical neurons. Use of exon I-specific AUG produces higher levels of BDNF protein than use of the common translation start site, resulting from a higher translation rate. No differences in protein degradation, constitutive or regulated secretion were detected between BDNF isoforms with alternative 5' termini. As the BDNF promoter preceding exon I is known to be highly regulated by neuronal activity, our results suggest that the function of this translation start site may be efficient stimulus-dependent synthesis of BDNF protein. The brain-derived neurotrophic factor (BDNF) gene contains multiple untranslated 5' exons alternatively spliced to one common protein-coding 3' exon. However, exon I contains an in-frame ATG in a favorable translation context. Here, we show that use of this ATG is associated with more efficient protein synthesis than the commonly used ATG in exon IX. © 2015 International Society for Neurochemistry.

  8. Hydrological Impacts of Land Use Change and Climate Variability in the Headwater Region of the Heihe River Basin, Northwest China

    Science.gov (United States)

    Zhang, Ling; Nan, Zhuotong; Xu, Yi; Li, Shuo

    2016-01-01

    Land use change and climate variability are two key factors impacting watershed hydrology, which is strongly related to the availability of water resources and the sustainability of local ecosystems. This study assessed separate and combined hydrological impacts of land use change and climate variability in the headwater region of a typical arid inland river basin, known as the Heihe River Basin, northwest China, in the recent past (1995–2014) and near future (2015–2024), by combining two land use models (i.e., Markov chain model and Dyna-CLUE) with a hydrological model (i.e., SWAT). The potential impacts in the near future were explored using projected land use patterns and hypothetical climate scenarios established on the basis of analyzing long-term climatic observations. Land use changes in the recent past are dominated by the expansion of grassland and a decrease in farmland; meanwhile the climate develops with a wetting and warming trend. Land use changes in this period induce slight reductions in surface runoff, groundwater discharge and streamflow whereas climate changes produce pronounced increases in them. The joint hydrological impacts are similar to those solely induced by climate changes. Spatially, both the effects of land use change and climate variability vary with the sub-basin. The influences of land use changes are more identifiable in some sub-basins, compared with the basin-wide impacts. In the near future, climate changes tend to affect the hydrological regimes much more prominently than land use changes, leading to significant increases in all hydrological components. Nevertheless, the role of land use change should not be overlooked, especially if the climate becomes drier in the future, as in this case it may magnify the hydrological responses. PMID:27348224

  9. Hydrological Impacts of Land Use Change and Climate Variability in the Headwater Region of the Heihe River Basin, Northwest China.

    Science.gov (United States)

    Zhang, Ling; Nan, Zhuotong; Xu, Yi; Li, Shuo

    2016-01-01

    Land use change and climate variability are two key factors impacting watershed hydrology, which is strongly related to the availability of water resources and the sustainability of local ecosystems. This study assessed separate and combined hydrological impacts of land use change and climate variability in the headwater region of a typical arid inland river basin, known as the Heihe River Basin, northwest China, in the recent past (1995-2014) and near future (2015-2024), by combining two land use models (i.e., Markov chain model and Dyna-CLUE) with a hydrological model (i.e., SWAT). The potential impacts in the near future were explored using projected land use patterns and hypothetical climate scenarios established on the basis of analyzing long-term climatic observations. Land use changes in the recent past are dominated by the expansion of grassland and a decrease in farmland; meanwhile the climate develops with a wetting and warming trend. Land use changes in this period induce slight reductions in surface runoff, groundwater discharge and streamflow whereas climate changes produce pronounced increases in them. The joint hydrological impacts are similar to those solely induced by climate changes. Spatially, both the effects of land use change and climate variability vary with the sub-basin. The influences of land use changes are more identifiable in some sub-basins, compared with the basin-wide impacts. In the near future, climate changes tend to affect the hydrological regimes much more prominently than land use changes, leading to significant increases in all hydrological components. Nevertheless, the role of land use change should not be overlooked, especially if the climate becomes drier in the future, as in this case it may magnify the hydrological responses.

  10. Impact of catchment geophysical characteristics and climate on the regional variability of dissolved organic carbon (DOC) in surface water.

    Science.gov (United States)

    Cool, Geneviève; Lebel, Alexandre; Sadiq, Rehan; Rodriguez, Manuel J

    2014-08-15

    Dissolved organic carbon (DOC) is a recognized indicator of natural organic matter (NOM) in surface waters. The aim of this paper is twofold: to evaluate the impact of geophysical characteristics, climate and ecological zones on DOC concentrations in surface waters and, to develop a statistical model to estimate the regional variability of these concentrations. In this study, multilevel statistical analysis was used to achieve three specific objectives: (1) evaluate the influence of climate and geophysical characteristics on DOC concentrations in surface waters; (2) compare the influence of geophysical characteristics and ecological zones on DOC concentrations in surface waters; and (3) develop a model to estimate the most accurate DOC concentrations in surface waters. The case study involved 115 catchments from surface waters in the Province of Quebec, Canada. Results showed that mean temperatures recorded 60 days prior to sampling, total precipitation 10 days prior to sampling and percentages of wetlands, coniferous forests and mixed forests have a significant positive influence on DOC concentrations in surface waters. The catchment mean slope had a significant negative influence on DOC concentrations in surface waters. Water type (lake or river) and deciduous forest variables were not significant. The ecological zones had a significant influence on DOC concentrations. However, geophysical characteristics (wetlands, forests and slope) estimated DOC concentrations more accurately. A model describing the variability of DOC concentrations was developed and can be used, in future research, for estimating DBPs in drinking water as well evaluating the impact of climate change on the quality of surface waters and drinking water. Copyright © 2014 Elsevier B.V. All rights reserved.

  11. Prevalence of cardiovascular risk factors, the association with socioeconomic variables in adolescents from low-income region.

    Science.gov (United States)

    Nascimento-Ferreira, Marcus Vinicius; De Moraes, Augusto Cesar F; Carvalho, Heraclito B; Moreno, Luis A; Gomes Carneiro, André Luiz; dos Reis, Victor Manuel M; Torres-Leal, Francisco Leonardo

    2014-01-01

    To estimate the prevalence of obesity, overweight, abdominal obesity and high blood pressure in a sample of adolescents from a low-income city in Brazil and to estimate the relationship with the socioeconomic status of the family, the education level of the family provider and the type of school. This cross-sectional study randomly sampled 1,014 adolescents (54.8% girls), between 14-19 years of age, attending high school from Imperatriz (MA). The outcomes of this study were: obesity and overweight, abdominal obesity and high blood pressure (systolic and/ or diastolic). The independent variables were: socioeconomic status (SES) of the family, education level of the family provider (ELFP) and type of school. The confounding variables were: gender, age and physical activity level. Prevalence was estimated, and the association between the endpoints and the independent variables was analyzed using a prevalence ratio (PR), with a 95% confidence interval, estimated by Poisson regression. The overall prevalence of obesity was 3.8%, overweight, 13.1%, abdominal obesity, 22.7% and high blood pressure, 21.3%. The adjusted analysis indicated that girls with high SES showed an increased likelihood to be overweight (PR=1.71 [95% IC: 1.13-2.87]), while private school boys had an increased likelihood of obesity (PR=1.79 [95% CI: 1.04-3.08]) and abdominal obesity (PR =1.64 [95% CI: 1.06-2.54]). The prevalence of CVDR is high in adolescents from this low-income region. Boys from private schools are more likely to have obesity and abdominal obesity, and girls with high SES are more likely to be overweight. Copyright AULA MEDICA EDICIONES 2014. Published by AULA MEDICA. All rights reserved.

  12. Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

    Science.gov (United States)

    Bonnet, Crystel; Grati, M'hamed; Marlin, Sandrine; Levilliers, Jacqueline; Hardelin, Jean-Pierre; Parodi, Marine; Niasme-Grare, Magali; Zelenika, Diana; Délépine, Marc; Feldmann, Delphine; Jonard, Laurence; El-Amraoui, Aziz; Weil, Dominique; Delobel, Bruno; Vincent, Christophe; Dollfus, Hélène; Eliot, Marie-Madeleine; David, Albert; Calais, Catherine; Vigneron, Jacqueline; Montaut-Verient, Bettina; Bonneau, Dominique; Dubin, Jacques; Thauvin, Christel; Duvillard, Alain; Francannet, Christine; Mom, Thierry; Lacombe, Didier; Duriez, Françoise; Drouin-Garraud, Valérie; Thuillier-Obstoy, Marie-Françoise; Sigaudy, Sabine; Frances, Anne-Marie; Collignon, Patrick; Challe, Georges; Couderc, Rémy; Lathrop, Mark; Sahel, José-Alain; Weissenbach, Jean; Petit, Christine; Denoyelle, Françoise

    2011-05-11

    Usher syndrome (USH) combines sensorineural deafness with blindness. It is inherited in an autosomal recessive mode. Early diagnosis is critical for adapted educational and patient management choices, and for genetic counseling. To date, nine causative genes have been identified for the three clinical subtypes (USH1, USH2 and USH3). Current diagnostic strategies make use of a genotyping microarray that is based on the previously reported mutations. The purpose of this study was to design a more accurate molecular diagnosis tool. We sequenced the 366 coding exons and flanking regions of the nine known USH genes, in 54 USH patients (27 USH1, 21 USH2 and 6 USH3). Biallelic mutations were detected in 39 patients (72%) and monoallelic mutations in an additional 10 patients (18.5%). In addition to biallelic mutations in one of the USH genes, presumably pathogenic mutations in another USH gene were detected in seven patients (13%), and another patient carried monoallelic mutations in three different USH genes. Notably, none of the USH3 patients carried detectable mutations in the only known USH3 gene, whereas they all carried mutations in USH2 genes. Most importantly, the currently used microarray would have detected only 30 of the 81 different mutations that we found, of which 39 (48%) were novel. Based on these results, complete exon sequencing of the currently known USH genes stands as a definite improvement for molecular diagnosis of this disease, which is of utmost importance in the perspective of gene therapy.

  13. Polymorphysims of Gene in the Exons Were Associated with the Reproductive Endocrine of Japanese Flounder (

    Directory of Open Access Journals (Sweden)

    R. Q. Ma

    2012-06-01

    Full Text Available The cytochrome P450c17-I (CYP17-I is one of the enzymes critical to gonadal development and the synthesis of androgens. Two single nucleotide polymorphisms (SNPs were detected within the coding region of the CYP17-I gene in a population of 75 male Japanese flounder (Paralichthys olivaceus. They were SNP1 (c.C445T located in exon2 and SNP2 (c.T980C (p.Phe307Leu located in exon5. Four physiological indices, which were serum testosterone (T, serum 17β-estradiol (E2, Hepatosomatic index (HSI, and Gonadosomatic index (GSI, were studied to examine the effect of the two SNPs on the reproductive endocrines of Japanese flounder. Multiple comparisons revealed that CT genotype of SNP1 had a much lower T level than CC genotype (p<0.05 and the GSI of individuals with CC genotype of SNP2 was higher than those with TT genotype (p<0.05. Four diplotypes were constructed based on the two SNPs and the diplotype D3 had a significantly lower T level and GSI. In conclusion, the two SNPs were significantly associated with reproductive traits of Japanese flounder.

  14. A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy.

    Science.gov (United States)

    Ben-Salem, Salma; Al-Shamsi, Aisha M; John, Anne; Ali, Bassam R; Al-Gazali, Lihadh

    2015-05-01

    Recent studies have implicated the WW domain-containing oxidoreductase encoding gene (WWOX) in a severe form of autosomal recessive neurological disorder. This condition showed an overlapping spectrum of clinical features including spinocerebellar ataxia associated with generalized seizures and delayed psychomotor development to growth retardation, spasticity, and microcephaly. We evaluated a child from a consanguineous Emirati family that presented at birth with growth retardation, microcephaly, epileptic seizures, and later developed spasticity and delayed psychomotor development. Screening for deletions and duplications using whole-chromosomal microarray analysis identified a novel homozygous microdeletion encompassing exon 5 of the WWOX gene. Analysis of parental DNA indicated that this deletion was inherited from both parents and lies within a large region of homozygosity. Sanger sequencing of the cDNA showed that the deletion resulted in exon 5 skipping leading to a frame-shift and creating a premature stop codon at amino acid position 212. Quantification of mRNA revealed striking low level of WWOX expression in the child and moderate level of expression in the mother compared to a healthy control. To the best of our knowledge, this is the first homozygous germline structural variation in WWOX gene resulting in truncated transcripts that were presumably subject to NMD pathway. Our findings extend the clinical and genetic spectrum of WWOX mutations and support a crucial role of this gene in neurological development.

  15. Spatial variability of the response to climate change in regional groundwater systems -- examples from simulations in the Deschutes Basin, Oregon

    Science.gov (United States)

    Waibel, Michael S.; Gannett, Marshall W.; Chang, Heejun; Hulbe, Christina L.

    2013-01-01

    We examine the spatial variability of the response of aquifer systems to climate change in and adjacent to the Cascade Range volcanic arc in the Deschutes Basin, Oregon using downscaled global climate model projections to drive surface hydrologic process and groundwater flow models. Projected warming over the 21st century is anticipated to shift the phase of precipitation toward more rain and less snow in mountainous areas in the Pacific Northwest, resulting in smaller winter snowpack and in a shift in the timing of runoff to earlier in the year. This will be accompanied by spatially variable changes in the timing of groundwater recharge. Analysis of historic climate and hydrologic data and modeling studies show that groundwater plays a key role in determining the response of stream systems to climate change. The spatial variability in the response of groundwater systems to climate change, particularly with regard to flow-system scale, however, has generally not been addressed in the literature. Here we simulate the hydrologic response to projected future climate to show that the response of groundwater systems can vary depending on the location and spatial scale of the flow systems and their aquifer characteristics. Mean annual recharge averaged over the basin does not change significantly between the 1980s and 2080s climate periods given the ensemble of global climate models and emission scenarios evaluated. There are, however, changes in the seasonality of groundwater recharge within the basin. Simulation results show that short-flow-path groundwater systems, such as those providing baseflow to many headwater streams, will likely have substantial changes in the timing of discharge in response changes in seasonality of recharge. Regional-scale aquifer systems with flow paths on the order of many tens of kilometers, in contrast, are much less affected by changes in seasonality of recharge. Flow systems at all spatial scales, however, are likely to reflect

  16. Functional interpretation of representative soil spatial-temporal variability at the Central region of European territory of Russia

    Science.gov (United States)

    Vasenev, I.

    2012-04-01

    The essential spatial and temporal variability is mutual feature for most natural and man-changed soils at the Central region of European territory of Russia. The original spatial heterogeneity of forest and forest-steppe soils has been further complicated by a specific land-use history and different-direction soil successions due to environmental changes and human impacts. For demand-driven land-use planning and decision making the quantitative analysis, modeling and functional-ecological interpretation of representative soil cover patterns spatial variability is an important and challenging task that receives increasing attention from scientific society, private companies, governmental and environmental bodies. On basis of long-term different-scale soil mapping, key plot investigation, land quality and land-use evaluation, soil forming and degradation processes modeling, functional-ecological typology of the zonal set of elementary soil cover patterns (ESCP) has been done in representative natural and man transformed ecosystems of the forest, forest-steppe and steppe zones at the Central region of European territory of Russia (ETR). The validation and ranging of the limiting factors of functional quality and ecological state have been made for dominating and most dynamical components of ESCP regional-typological forms - with application of local GIS, traditional regression kriging and correlation tree models. Development, zonal-regional differentiation and verification of the basic set of criteria and algorithms for logically formalized distinguishing of the most "stable" & "hot" areas in soil cover patterns make it possible for quantitative assessment of dominating in them elementary landscape, soil-forming and degradation processes. The received data essentially expand known ranges of the soil forming processes (SFP) rate «in situ». In case of mature forests mutual for them the windthrow impacts and lateral processes make SFPs more active and complex both in

  17. Technical Note: An operational landslide early warning system at regional scale based on space-time-variable rainfall thresholds

    Science.gov (United States)

    Segoni, S.; Battistini, A.; Rossi, G.; Rosi, A.; Lagomarsino, D.; Catani, F.; Moretti, S.; Casagli, N.

    2015-04-01

    We set up an early warning system for rainfall-induced landslides in Tuscany (23 000 km2). The system is based on a set of state-of-the-art intensity-duration rainfall thresholds (Segoni et al., 2014b) and makes use of LAMI (Limited Area Model Italy) rainfall forecasts and real-time rainfall data provided by an automated network of more than 300 rain gauges. The system was implemented in a WebGIS to ease the operational use in civil protection procedures: it is simple and intuitive to consult, and it provides different outputs. When switching among different views, the system is able to focus both on monitoring of real-time data and on forecasting at different lead times up to 48 h. Moreover, the system can switch between a basic data view where a synoptic scenario of the hazard can be shown all over the region and a more in-depth view were the rainfall path of rain gauges can be displayed and constantly compared with rainfall thresholds. To better account for the variability of the geomorphological and meteorological settings encountered in Tuscany, the region is subdivided into 25 alert zones, each provided with a specific threshold. The warning system reflects this subdivision: using a network of more than 300 rain gauges, it allows for the monitoring of each alert zone separately so that warnings can be issued independently. An important feature of the warning system is that the visualization of the thresholds in the WebGIS interface may vary in time depending on when the starting time of the rainfall event is set. The starting time of the rainfall event is considered as a variable by the early warning system: whenever new rainfall data are available, a recursive algorithm identifies the starting time for which the rainfall path is closest to or overcomes the threshold. This is considered the most hazardous condition, and it is displayed by the WebGIS interface. The early warning system is used to forecast and monitor the landslide hazard in the whole region

  18. Modeling actual evapotranspiration with routine meteorological variables in the data-scarce region of the Tibetan Plateau: Comparisons and implications

    Science.gov (United States)

    Ma, Ning; Zhang, Yinsheng; Xu, Chong-Yu; Szilagyi, Jozsef

    2015-08-01

    Quantitative estimation of actual evapotranspiration (ETa) by in situ measurements and mathematical modeling is a fundamental task for physical understanding of ETa as well as the feedback mechanisms between land and the ambient atmosphere. However, the ETa information in the Tibetan Plateau (TP) has been greatly impeded by the extremely sparse ground observation network in the region. Approaches for estimating ETa solely from routine meteorological variables are therefore important for investigating spatiotemporal variations of ETa in the data-scarce region of the TP. Motivated by this need, the complementary relationship (CR) and Penman-Monteith approaches were evaluated against in situ measurements of ETa on a daily basis in an alpine steppe region of the TP. The former includes the Nonlinear Complementary Relationship (Nonlinear-CR) as well as the Complementary Relationship Areal Evapotranspiration (CRAE) models, while the latter involves the Katerji-Perrier and the Todorovic models. Results indicate that the Nonlinear-CR, CRAE, and Katerji-Perrier models are all capable of efficiently simulating daily ETa, provided their parameter values were appropriately calibrated. The Katerji-Perrier model performed best since its site-specific parameters take the soil water status into account. The Nonlinear-CR model also performed well with the advantage of not requiring the user to choose between a symmetric and asymmetric CR. The CRAE model, even with a relatively low Nash-Sutcliffe efficiency (NSE) value, is also an acceptable approach in this data-scarce region as it does not need information of wind speed and ground surface conditions. In contrast, application of the Todorovic model was found to be inappropriate in the dry regions of the TP due to its significant overestimation of ETa as it neglects the effect of water stress on the bulk surface resistance. Sensitivity analysis of the parameter values demonstrated the relative importance of each parameter in the

  19. Spatiotemporal Phylogenetic Analysis and Molecular Characterisation of Infectious Bursal Disease Viruses Based on the VP2 Hyper-Variable Region.

    Directory of Open Access Journals (Sweden)

    Abdulahi Alfonso-Morales

    Full Text Available Infectious bursal disease is a highly contagious and acute viral disease caused by the infectious bursal disease virus (IBDV; it affects all major poultry producing areas of the world. The current study was designed to rigorously measure the global phylogeographic dynamics of IBDV strains to gain insight into viral population expansion as well as the emergence, spread and pattern of the geographical structure of very virulent IBDV (vvIBDV strains.Sequences of the hyper-variable region of the VP2 (HVR-VP2 gene from IBDV strains isolated from diverse geographic locations were obtained from the GenBank database; Cuban sequences were obtained in the current work. All sequences were analysed by Bayesian phylogeographic analysis, implemented in the Bayesian Evolutionary Analysis Sampling Trees (BEAST, Bayesian Tip-association Significance testing (BaTS and Spatial Phylogenetic Reconstruction of Evolutionary Dynamics (SPREAD software packages. Selection pressure on the HVR-VP2 was also assessed. The phylogeographic association-trait analysis showed that viruses sampled from individual countries tend to cluster together, suggesting a geographic pattern for IBDV strains. Spatial analysis from this study revealed that strains carrying sequences that were linked to increased virulence of IBDV appeared in Iran in 1981 and spread to Western Europe (Belgium in 1987, Africa (Egypt around 1990, East Asia (China and Japan in 1993, the Caribbean Region (Cuba by 1995 and South America (Brazil around 2000. Selection pressure analysis showed that several codons in the HVR-VP2 region were under purifying selection.To our knowledge, this work is the first study applying the Bayesian phylogeographic reconstruction approach to analyse the emergence and spread of vvIBDV strains worldwide.

  20. Spatiotemporal Phylogenetic Analysis and Molecular Characterisation of Infectious Bursal Disease Viruses Based on the VP2 Hyper-Variable Region.

    Science.gov (United States)

    Alfonso-Morales, Abdulahi; Martínez-Pérez, Orlando; Dolz, Roser; Valle, Rosa; Perera, Carmen L; Bertran, Kateri; Frías, Maria T; Majó, Natàlia; Ganges, Llilianne; Pérez, Lester J

    2013-01-01

    Infectious bursal disease is a highly contagious and acute viral disease caused by the infectious bursal disease virus (IBDV); it affects all major poultry producing areas of the world. The current study was designed to rigorously measure the global phylogeographic dynamics of IBDV strains to gain insight into viral population expansion as well as the emergence, spread and pattern of the geographical structure of very virulent IBDV (vvIBDV) strains. Sequences of the hyper-variable region of the VP2 (HVR-VP2) gene from IBDV strains isolated from diverse geographic locations were obtained from the GenBank database; Cuban sequences were obtained in the current work. All sequences were analysed by Bayesian phylogeographic analysis, implemented in the Bayesian Evolutionary Analysis Sampling Trees (BEAST), Bayesian Tip-association Significance testing (BaTS) and Spatial Phylogenetic Reconstruction of Evolutionary Dynamics (SPREAD) software packages. Selection pressure on the HVR-VP2 was also assessed. The phylogeographic association-trait analysis showed that viruses sampled from individual countries tend to cluster together, suggesting a geographic pattern for IBDV strains. Spatial analysis from this study revealed that strains carrying sequences that were linked to increased virulence of IBDV appeared in Iran in 1981 and spread to Western Europe (Belgium) in 1987, Africa (Egypt) around 1990, East Asia (China and Japan) in 1993, the Caribbean Region (Cuba) by 1995 and South America (Brazil) around 2000. Selection pressure analysis showed that several codons in the HVR-VP2 region were under purifying selection. To our knowledge, this work is the first study applying the Bayesian phylogeographic reconstruction approach to analyse the emergence and spread of vvIBDV strains worldwide.

  1. Accounting for inter-annual and seasonal variability in regionalization of hydrologic response in the Great Lakes basin

    Science.gov (United States)

    Kult, J. M.; Fry, L. M.; Gronewold, A. D.

    2012-12-01

    Methods for predicting streamflow in areas with limited or nonexistent measures of hydrologic response typically invoke the concept of regionalization, whereby knowledge pertaining to gauged catchments is transferred to ungauged catchments. In this study, we identify watershed physical characteristics acting as primary drivers of hydrologic response throughout the US portion of the Great Lakes basin. Relationships between watershed physical characteristics and hydrologic response are generated from 166 catchments spanning a variety of climate, soil, land cover, and land form regimes through regression tree analysis, leading to a grouping of watersheds exhibiting similar hydrologic response characteristics. These groupings are then used to predict response in ungauged watersheds in an uncertainty framework. Results from this method are assessed alongside one historical regionalization approach which, while simple, has served as a cornerstone of Great Lakes regional hydrologic research for several decades. Our approach expands upon previous research by considering multiple temporal characterizations of hydrologic response. Due to the substantial inter-annual and seasonal variability in hydrologic response observed over the Great Lakes basin, results from the regression tree analysis differ considerably depending on the level of temporal aggregation used to define the response. Specifically, higher levels of temporal aggregation for the response metric (for example, indices derived from long-term means of climate and streamflow observations) lead to improved watershed groupings with lower within-group variance. However, this perceived improvement in model skill occurs at the cost of understated uncertainty when applying the regression to time series simulations or as a basis for model calibration. In such cases, our results indicate that predictions based on long-term characterizations of hydrologic response can produce misleading conclusions when applied at shorter

  2. Temporal and spatial patterns of wetland extent influence variability of surface water connectivity in the Prairie Pothole Region, United States

    Science.gov (United States)

    Vanderhoof, Melanie; Alexander, Laurie C.; Todd, Jason

    2016-01-01

    Context. Quantifying variability in landscape-scale surface water connectivity can help improve our understanding of the multiple effects of wetlands on downstream waterways. Objectives. We examined how wetland merging and the coalescence of wetlands with streams varied both spatially (among ecoregions) and interannually (from drought to deluge) across parts of the Prairie Pothole Region. Methods. Wetland extent was derived over a time series (1990-2011) using Landsat imagery. Changes in landscape-scale connectivity, generated by the physical coalescence of wetlands with other surface water features, were quantified by fusing static wetland and stream datasets with Landsat-derived wetland extent maps, and related to multiple wetness indices. The usage of Landsat allows for decadal-scale analysis, but limits the types of surface water connections that can be detected. Results. Wetland extent correlated positively with the merging of wetlands and wetlands with streams. Wetness conditions, as defined by drought indices and runoff, were positively correlated with wetland extent, but less consistently correlated with measures of surface water connectivity. The degree of wetland-wetland merging was found to depend less on total wetland area or density, and more on climate conditions, as well as the threshold for how wetland/upland was defined. In contrast, the merging of wetlands with streams was positively correlated with stream density, and inversely related to wetland density. Conclusions. Characterizing the degree of surface water connectivity within the Prairie Pothole Region in North America requires consideration of 1) climate-driven variation in wetness conditions and 2) within-region variation in wetland and stream spatial arrangements.

  3. Spatiotemporal variability and meteorological control of particulate matter pollution in a large open-pit coal mining region in Colombia

    Science.gov (United States)

    Morales Rincon, L. A.; Jimenez-Pizarro, R.; Porras-Diaz, H.

    2012-12-01

    Luis Morales-Rincon (1), Hernan Porras-Diaz (1), Rodrigo Jiménez (2,*) (1) Geomatic Research Group, Department of Civil Engineering, Universidad Industrial de Santander, Bucaramanga, Santander 680002, Colombia; (2) Air Quality Research Group, Department of Chemical and Environmental Engineering, Universidad Nacional de Colombia, Bogota, DC 111321, Colombia *Corresponding author: phone +57-1-316-5000 ext. 14099, fax +57-1-316-5334, e-mail rjimenezp@unal.edu.co The semi-desertic area of Central Cesar, Colombia, produced approximately 44 million tons of coal in 2011. This mining activity has been intensively developed since 2005. There are currently 7 large-scale mining projects in that area. The coal industry has strongly impacted not only the ecosystems, but also the neighboring communities around the coal mines. The main goal of the research work was to characterize spatial and temporal variations of particulate matter (total suspended particulates - TSP - and particulate matter below 10 μm - PM10) as measured at various air quality monitoring stations in Cesar's coal industry region as well as to study the relationship between these variability and meteorological factors. The analysis of the meteorological time series of revealed a complex atmospheric circulation in the region. No clear repetitive diurnal circulation patterns were observed, i.e. statistical mean patterns do not physically represent the actual atmospheric circulation. We attribute this complexity to the interdependence between local and synoptic phenomena over a low altitude, relatively flat area. On the other hand, a comparison of air quality in the mining area with a perimeter station indicates that coal industry in central Cesar has a mayor effect on the levels of particulate matter in the region. Particulate matter concentration is highly variable throughout the year. The strong correlation between TSP and PM10 indicates that secondary aerosols are of minor importance. Furthermore, particle

  4. Low numbers of repeat units in variable number of tandem repeats (VNTR) regions of white spot syndrome virus are correlated with disease outbreaks

    NARCIS (Netherlands)

    Tran Thi Tuyet, H.; Zwart, M.P.; Phuong, N.T.; Jong, de M.C.M.; Vlak, J.M.

    2012-01-01

    White spot syndrome virus (WSSV) is the most important pathogen in shrimp farming systems worldwide including the Mekong Delta, Vietnam. The genome of WSSV is characterized by the presence of two major 'indel regions' found at ORF14/15 and ORF23/24 (WSSV-Thailand) and three regions with variable

  5. [Effects of land use and environmental factors on the variability of soil quality indicators in hilly Loess Plateau region of China].

    Science.gov (United States)

    Xu, Ming-Xiang; Liu, Guo-Bin; Zhao, Yun-Ge

    2011-02-01

    Classical statistics methods were adopted to analyze the soil quality variability, its affecting factors, and affecting degree at a regional scale (700 km2) in the central part of hilly Loess Plateau region of China. There existed great differences in the variability of test soil quality indicators. Soil pH, structural coefficient, silt content, specific gravity, bulk density, total porosity, capillary porosity, and catalase activity were the indicators with weak variability; soil nutrients (N, P, and K) contents, CaCO3 content, cation exchange capacity (CEC), clay content, micro-aggregate mean mass diameter, aggregate mean mass diameter, water-stable aggregates, respiration rate, microbial quotient, invertase and phosphatase activities, respiratory quotient, and microbial carbon and nitrogen showed medium variation; while soil labile organic carbon and phosphorus contents, erosion-resistance, permeability coefficient, and urease activity were the indicators with strong variability. The variability of soil CaCO3, total P and K, CEC, texture, and specific gravity, etc. was correlated with topography and other environmental factors, while the variability of dynamic soil quality indicators, including soil organic matter content, nitrogen content, water-stable aggregates, permeability, microbial biomass carbon and nitrogen, enzyme activities, and respiration rate, was mainly correlated with land use type. Overall, land use pattern explained 97% of the variability of soil quality indicators in the region. It was suggested that in the evaluation of soil quality in hilly Loess Plateau region, land use type and environmental factors should be fully considered.

  6. Variabilidade local e regional da evapotranspiração estimada pelo algoritmo SEBAL Local and regional variability of evapotranspiration estimated by SEBAL algorithm

    Directory of Open Access Journals (Sweden)

    Luis C. J. Moreira

    2010-12-01

    balance. The hourly evapotranspiration values obtained were greater than 0.60 mm h-1 in irrigated or dense native vegetation areas, from 0.35 to 0.60 mm h-1 in sparse vegetation areas and almost null in degradated areas. The analysis of hourly evapotranspiration means by Tukey test at 5% probability level showed not only a significant variability locally but also at a regional scale in the state of Ceará.

  7. MET amplification, expression, and exon 14 mutations in colorectal adenocarcinoma.

    Science.gov (United States)

    Zhang, Meng; Li, Guichao; Sun, Xiangjie; Ni, Shujuan; Tan, Cong; Xu, Midie; Huang, Dan; Ren, Fei; Li, Dawei; Wei, Ping; Du, Xiang

    2018-04-08

    MET amplification, expression, and splice mutations at exon 14 result in dysregulation of the MET signaling pathway. The aim of this study was to identify the relationship between MET amplification, protein or mRNA expression, and mutations in colorectal cancer (CRC). MET immunohistochemistry (IHC) was used for MET protein expression analysis and fluorescence in situ hybridization (FISH) was used for MET amplification detection. Both analyses were performed in tissue microarrays (TMA) containing 294 of colorectal adenocarcinoma tissue samples and 131 samples of adjacent normal epithelial tissue. MET mRNA expression was examined by real-time quantitative polymerase chain reaction (qRT-PCR) in 72 fresh colorectal adenocarcinoma tissue samples and adjacent normal colon tissue. PCR sequencing was performed to screen for MET exon 14 splice mutations in 59 fresh CRC tissue samples. Our results showed that MET protein expression was higher in colorectal tumor tissue than in adjacent normal intestinal epithelium. Positive MET protein expression was associated with significantly poorer overall survival (OS) and disease-free survival (DFS). Multivariate analysis revealed that positive MET protein expression was an independent risk factor for DFS, but not for OS. MET mRNA expression was upregulated in tumor tissues compared with the adjacent normal tissues. The incidence of MET amplification was 4.4%. None of the patients was positive for MET mutation. Collectively, MET was overexpressed in colorectal adenocarcinoma, and its positive protein expression predicted a poorer outcome in CRC patients. Furthermore, according to our results, MET amplification and 14 exon mutation are extremely rare events in colorectal adenocarcinoma. Copyright © 2018. Published by Elsevier Inc.

  8. Targeted exon sequencing in Usher syndrome type I.

    Science.gov (United States)

    Bujakowska, Kinga M; Consugar, Mark; Place, Emily; Harper, Shyana; Lena, Jaclyn; Taub, Daniel G; White, Joseph; Navarro-Gomez, Daniel; Weigel DiFranco, Carol; Farkas, Michael H; Gai, Xiaowu; Berson, Eliot L; Pierce, Eric A

    2014-12-02

    Patients with Usher syndrome type I (USH1) have retinitis pigmentosa, profound congenital hearing loss, and vestibular ataxia. This syndrome is currently thought to be associated with at least six genes, which are encoded by over 180 exons. Here, we present the use of state-of-the-art techniques in the molecular diagnosis of a cohort of 47 USH1 probands. The cohort was studied with selective exon capture and next-generation sequencing of currently known inherited retinal degeneration genes, comparative genomic hybridization, and Sanger sequencing of new USH1 exons identified by human retinal transcriptome analysis. With this approach, we were able to genetically solve 14 of the 47 probands by confirming the biallelic inheritance of mutations. We detected two likely pathogenic variants in an additional 19 patients, for whom family members were not available for cosegregation analysis to confirm biallelic inheritance. Ten patients, in addition to primary disease-causing mutations, carried rare likely pathogenic USH1 alleles or variants in other genes associated with deaf-blindness, which may influence disease phenotype. Twenty-one of the identified mutations were novel among the 33 definite or likely solved patients. Here, we also present a clinical description of the studied cohort at their initial visits. We found a remarkable genetic heterogeneity in the studied USH1 cohort with multiplicity of mutations, of which many were novel. No obvious influence of genotype on phenotype was found, possibly due to small sample sizes of the genotypes under study. Copyright 2014 The Association for Research in Vision and Ophthalmology, Inc.

  9. Spatial variability of initial 230Th/ 232Th in modern Porites from the inshore region of the Great Barrier Reef

    Science.gov (United States)

    Clark, Tara R.; Zhao, Jian-xin; Feng, Yue-xing; Done, Terry J.; Jupiter, Stacy; Lough, Janice; Pandolfi, John M.

    2012-02-01

    The main limiting factor in obtaining precise and accurate uranium-series (U-series) ages of corals that lived during the last few hundred years is the ability to constrain and correct for initial thorium-230 ( 230Th 0), which is proportionally much higher in younger samples. This is becoming particularly important in palaeoecological research where accurate chronologies, based on the 230Th chronometer, are required to pinpoint changes in coral community structure and the timing of mortality events in recent time (e.g. since European settlement of northern Australia in the 1850s). In this study, thermal ionisation mass spectrometry (TIMS) U-series dating of 43 samples of known ages collected from living Porites spp. from the far northern, central and southern inshore regions of the Great Barrier Reef (GBR) was performed to spatially constrain initial 230Th/ 232Th ( 230Th/ 232Th 0) variability. In these living Porites corals, the majority of 230Th/ 232Th 0 values fell within error of the conservative bulk Earth 230Th/ 232Th atomic value of 4.3 ± 4.3 × 10 -6 (2 σ) generally assumed for 230Th 0 corrections where the primary source is terrestrially derived. However, the results of this study demonstrate that the accuracy of 230Th ages can be further improved by using locally determined 230Th/ 232Th 0 values for correction, supporting the conclusion made by Shen et al. (2008) for the Western Pacific. Despite samples being taken from regions adjacent to contrasting levels of land modification, no significant differences were found in 230Th/ 232Th 0 between regions exposed to varying levels of sediment during river runoff events. Overall, 39 of the total 43 230Th/ 232Th 0 atomic values measured in samples from inshore reefs across the entire region show a normal distribution ranging from 3.5 ± 1.1 to 8.1 ± 1.1 × 10 -6, with a weighted mean of 5.76 ± 0.34 × 10 -6 (2 σ, MSWD = 8.1). Considering the scatter of the data, the weighted mean value with a more

  10. Reversible optic neuropathy with OPA1 exon 5b mutation

    DEFF Research Database (Denmark)

    Cornille, K.; Milea, D.; Amati-Bonneau, P.

    2008-01-01

    A new c.740G>A (R247H) mutation in OPA1 alternate spliced exon 5b was found in a patient presenting with bilateral optic neuropathy followed by partial, spontaneous visual recovery. R247H fibroblasts from the patient and his unaffected father presented unusual highly tubular mitochondrial network......, significant increased susceptibility to apoptosis, oxidative phosphorylation uncoupling, and altered OPA1 protein profile, supporting the pathogenicity of this mutation. These results suggest that the clinical spectrum of the OPA1-associated optic neuropathies may be larger than previously described...

  11. Paleolimnological reconstruction of environmental variability during the Late Pleistocene and Holocene in the south-east Baltic region

    Science.gov (United States)

    Kublitskiy, Iurii; Subetto, Dmitriy; Druzhinina, Olga; Kulkova, Marianna; Arslanov, Khikmatula

    2016-04-01

    The main goal of our research is the high-resolution reconstruction of environmental and climatic changes in SE Baltic region since the Last Glacial Maximum by palaeolimnological data. The 6 objects - lakes and peat-bogs, were studied since 2009 in the Kaliningrad region, Russian Federation. According to palaeolimnological studies of bottom sediments of the Kamyshovoe Lake (N 54°22,6`; E22°42,8`, 189 m a.s.l.), located in the Vishtynets Highland, the south-east part of Kaliningrad district, the environmental and climatic changes after the late glacial have been reconstructed. At that moment the radiocarbon and loss-on-ignition (LOI) data, geochemistry and diatom analysis for the whole sediment core, and pollen analyze for the bottom part of the core have been completed. According to the pollen data the Alleröd interstadial starts at 13 200 cal. yrs BP and is marked by the rising of birch and pine pollen. The transition to the Younger Dryas around 12 700 cal. yrs BP corresponds with the development of patches of shrublands in which light-demanding species, such as juniper, flourished and communities of steppe herbs. The late Preboreal is marked by the appearance of Populus and an increase of the role of grasses in the vegetation cover 11 300-11 100 cal. yrs BP (Druzinina et al., 2015). The Holocene climatic zones have been identified by LOI and geochemistry analyses. The Boreal period started about 10 200 cal. yrs BP, Atlantic around 9100 cal. yrs BP, Subboreal 5800 cal. yrs BP, and Subatlantic 3200 cal. yrs BP (Kublitskiy et al., 2015). During the conference the new palaeolimnological data of environmental variability during the late Pleistocene and Holocene in SE Baltic region will be presented. Acknowledgements The investigations have been granted by the Russian Fund for Basic Research (12-05-33013, 13-05-41457, 15-35-50721). References Druzhinina, O., Subetto, D., Stančikaitė, M., Vaikutienė, G., Kublitsky, J., Arslanov, Kh., 2015. Sediment record from the

  12. Overview of surface ozone variability in East Asia-North Pacific region during IGAC/APARE (1994--1996).

    Science.gov (United States)

    Lam, K S; Wang, T J; Wang, T; Tang, J; Kajii, Y; Liu, C M; Shim, S G

    2004-01-01

    Surface ozone (O3) was measured at Oki Island (Japan), Cheju Island (South Korea), Lanyu Island (Taiwan Province, China), Cape D'Aguilar (Hong Kong SAR) and Lin'an, Longfenshan, Waliguan (China mainland) during January 1994--December 1996 as a component of IGAC/APARE (International Global Atmospheric Chemistry/East Asia-North Pacific Regional Experiment). This paper gave a joint discussion on the observational results at these stations over the study region. Investigations showed that the average of surface O3 mixing ratios at the seven sites are 47.9+/-15.8, 48.1+/-17.9, 30.2+/-16.4, 31.6+/-17.5, 36.3+/-17.5, 34.8+/-11.5 and 48.2+/-9.5 ppbv, respectively. Significant diurnal variations of surface O3 have been observed at Oki, Cheju, D'Aguilar, Lin'an and Longfenshan. Their annual averaged diurnal differences range from 8 to 23 ppbv and differ in each season. Surface O3 at Lanyu and Waliguan do not show strong diurnal variability. Seasonal cycles of surface O3 showed difference at the temperate and the subtropical remote sites. Oki has a summer minimum-spring maximum, while Lanyu has a summer minimum-autumn maximum. The suburban sites at D'Aguilar and Lin'an report high-level O3 in autumn and low level O3 in summer. Surface O3 remains-high in autumn and low in winter at the rural site Longfenshan. For the global background station Waliguan, surface O3 exhibits a broad spring-summer maximum and autumn-winter minimum. The backward air trajectories to these sites have shown different pathways of long-range transport of air pollution from East Asia Continent to North Pacific Ocean. Surface O3 was found to be strongly and positively correlated with CO at Oki and Lanyu, especially in spring and autumn, reflecting the substantial photochemical buildup of O3 on a regional scale. It is believed that the regional sources of pollution in East Asia have enhanced the average surface O3 concentrations in the background atmosphere of North Pacific.

  13. Regional Variability of Agriculturally-Derived Nitrate-Nitrogen in Shallow Groundwater in China, 2004–2014

    Directory of Open Access Journals (Sweden)

    Jing Li

    2018-05-01

    Full Text Available Increasing diffuse nitrate loading of groundwater has long been a major environmental and health concern in China, but little is known about the spatial and temporal variability of nitrate concentrations in groundwater at regional scales. The aim of this study was to assess the spatial distribution and variation of nitrate-nitrogen (NO3−-N concentrations in groundwater. We used groundwater quality monitoring data and soil physical characteristics from 21 agro-ecosystems in China for years 2004 to 2014. The results indicated that NO3−-N concentrations were highly variable in shallow groundwater across the landscape. Over the study period, most of the NO3−-N concentrations were below the World Health Organization permissible limit for drinking water (<10 mg N·L. NO3−-N concentrations in groundwater neither significantly increased nor decreased in most agro-ecosystems, but fluctuated with seasons. In addition, groundwater NO3−-N under purple soil (6.81 mg·L−1 and Aeolian sandy soil (6.02 mg·L−1 were significantly higher (p < 0.05 than that under other soil types, and it was medium-high (4.49 mg·L−1 under aquic cinnamon soil. Elevated nitrate concentrations occurred mainly in oasis agricultural areas of northwestern China, where farmlands with coarse-textured soils use flood irrigation. Therefore, arid and semi-arid areas are expected to sustain high NO3−-N concentrations in groundwater. Mitigation strategies can prevent this problem, and include control of N fertilizer input, balanced fertilization, proper rotation system, adoption of improved irrigation methods, and establishment of environmental policies.

  14. Variability of sub-micrometer particle number size distributions and concentrations in the Western Mediterranean regional background

    Directory of Open Access Journals (Sweden)

    Michael Cusack

    2013-02-01

    Full Text Available This study focuses on the daily and seasonal variability of particle number size distributions and concentrations, performed at the Montseny (MSY regional background station in the western Mediterranean from October 2010 to June 2011. Particle number concentrations at MSY were shown to be within range of various other sites across Europe reported in literature, but the seasonality of the particle number size distributions revealed significant differences. The Aitken mode is the dominant particle mode at MSY, with arithmetic mean concentrations of 1698 cm3, followed by the accumulation mode (877 cm−3 and the nucleation mode (246 cm−3. Concentrations showed a strong seasonal variability with large increases in particle number concentrations observed from the colder to warmer months. The modality of median size distributions was typically bimodal, except under polluted conditions when the size distribution was unimodal. During the colder months, the daily variation of particle number size distributions are strongly influenced by a diurnal breeze system, whereby the Aitken and accumulation modes vary similarly to PM1 and BC mass concentrations, with nocturnal minima and sharp day-time increases owing to the development of a diurnal mountain breeze. Under clean air conditions, high levels of nucleation and lower Aitken mode concentrations were measured, highlighting the importance of new particle formation as a source of particles in the absence of a significant condensation sink. During the warmer months, nucleation mode concentrations were observed to be relatively elevated both under polluted and clean conditions due to increased photochemical reactions, with enhanced subsequent growth owing to elevated concentrations of condensable organic vapours produced from biogenic volatile organic compounds, indicating that nucleation at MSY does not exclusively occur under clean air conditions. Finally, mixing of air masses between polluted and non

  15. Variability in methane emissions from West Siberia's shallow boreal lakes on a regional scale and its environmental controls

    Directory of Open Access Journals (Sweden)

    A. F. Sabrekov

    2017-08-01

    Full Text Available Small lakes represent an important source of atmospheric CH4 from northern wetlands. However, spatiotemporal variations in flux magnitudes and the lack of knowledge about their main environmental controls contribute large uncertainty into the global CH4 budget. In this study, we measured methane fluxes from small lakes using chambers and bubble traps. Field investigations were carried out in July–August 2014 within the West Siberian middle and southern taiga zones. The average and median of measured methane chamber fluxes were 0.32 and 0.30 mgCH4 m−2 h−1 for middle taiga lakes and 8.6 and 4.1 mgCH4 m−2 h−1 for southern taiga lakes, respectively. Pronounced flux variability was found during measurements on individual lakes, between individual lakes and between zones. To analyze these differences and the influences of environmental controls, we developed a new dynamic process-based model. It shows good performance with emission rates from the southern taiga lakes and poor performance for individual lakes in the middle taiga region. The model shows that, in addition to well-known controls such as temperature, pH and lake depth, there are significant variations in the maximal methane production potential between these climatic zones. In addition, the model shows that variations in gas-filled pore space in lake sediments are capable of controlling the total methane emissions from individual lakes. The CH4 emissions exhibited distinct zonal differences not only in absolute values but also in their probability density functions: the middle taiga lake fluxes were best described by a lognormal distribution while the southern taiga lakes followed a power-law distribution. The latter suggests applicability of self-organized criticality theory for methane emissions from the southern taiga zone, which could help to explain the strong variability within individual lakes.

  16. The Variable Regions of Lactobacillus rhamnosus Genomes Reveal the Dynamic Evolution of Metabolic and Host-Adaptation Repertoires.

    Science.gov (United States)

    Ceapa, Corina; Davids, Mark; Ritari, Jarmo; Lambert, Jolanda; Wels, Michiel; Douillard, François P; Smokvina, Tamara; de Vos, Willem M; Knol, Jan; Kleerebezem, Michiel

    2016-07-02

    Lactobacillus rhamnosus is a diverse Gram-positive species with strains isolated from different ecological niches. Here, we report the genome sequence analysis of 40 diverse strains of L. rhamnosus and their genomic comparison, with a focus on the variable genome. Genomic comparison of 40 L. rhamnosus strains discriminated the conserved genes (core genome) and regions of plasticity involving frequent rearrangements and horizontal transfer (variome). The L. rhamnosus core genome encompasses 2,164 genes, out of 4,711 genes in total (the pan-genome). The accessory genome is dominated by genes encoding carbohydrate transport and metabolism, extracellular polysaccharides (EPS) biosynthesis, bacteriocin production, pili production, the cas system, and the associated clustered regularly interspaced short palindromic repeat (CRISPR) loci, and more than 100 transporter functions and mobile genetic elements like phages, plasmid genes, and transposons. A clade distribution based on amino acid differences between core (shared) proteins matched with the clade distribution obtained from the presence-absence of variable genes. The phylogenetic and variome tree overlap indicated that frequent events of gene acquisition and loss dominated the evolutionary segregation of the strains within this species, which is paralleled by evolutionary diversification of core gene functions. The CRISPR-Cas system could have contributed to this evolutionary segregation. Lactobacillus rhamnosus strains contain the genetic and metabolic machinery with strain-specific gene functions required to adapt to a large range of environments. A remarkable congruency of the evolutionary relatedness of the strains' core and variome functions, possibly favoring interspecies genetic exchanges, underlines the importance of gene-acquisition and loss within the L. rhamnosus strain diversification. © The Author(s) 2016. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

  17. Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta.

    Science.gov (United States)

    Poulter, James A; Murillo, Gina; Brookes, Steven J; Smith, Claire E L; Parry, David A; Silva, Sandra; Kirkham, Jennifer; Inglehearn, Chris F; Mighell, Alan J

    2014-10-15

    Amelogenesis imperfecta (AI) describes a heterogeneous group of inherited dental enamel defects reflecting failure of normal amelogenesis. Ameloblastin (AMBN) is the second most abundant enamel matrix protein expressed during amelogenesis. The pivotal role of AMBN in amelogenesis has been confirmed experimentally using mouse models. However, no AMBN mutations have been associated with human AI. Using autozygosity mapping and exome sequencing, we identified genomic deletion of AMBN exon 6 in a second cousin consanguineous family with three of the six children having hypoplastic AI. The genomic deletion corresponds to an in-frame deletion of 79 amino acids, shortening the protein from 447 to 368 residues. Exfoliated primary teeth (unmatched to genotype) were available from family members. The most severely affected had thin, aprismatic enamel (similar to that reported in mice homozygous for Ambn lacking exons 5 and 6). Other teeth exhibited thicker but largely aprismatic enamel. One tooth had apparently normal enamel. It has been suggested that AMBN may function in bone development. No clinically obvious bone or other co-segregating health problems were identified in the family investigated. This study confirms for the first time that AMBN mutations cause non-syndromic human AI and that mouse models with disrupted Ambn function are valid. © The Author 2014. Published by Oxford University Press.

  18. Temporal Variability of Total Ozone in the Asian Region Inferred from Ground-Based and Satellite Measurement Data

    Science.gov (United States)

    Visheratin, K. N.; Nerushev, A. F.; Orozaliev, M. D.; Zheng, Xiangdong; Sun, Shumen; Liu, Li

    2017-12-01

    This paper reports investigation data on the temporal variability of total ozone content (TOC) in the Central Asian and Tibet Plateau mountain regions obtained by conventional methods, as well as by spectral, cross-wavelet, and composite analyses. The data of ground-based observation stations located at Huang He, Kunming, and Lake Issyk-Kul, along with the satellite data obtained at SBUV/SBUV2 (SBUV merged total and profile ozone data, Version 8.6) for 1980-2013 and OMI (Ozone Monitoring Instrument) and TOU (Total Ozone Unit) for 2009-2013 have been used. The average relative deviation from the SBUV/SBUV2 data is less than 1% in Kunming and Issyk-Kul for the period of 1980-2013, while the Huang He Station is characterized by an excess of the satellite data over the ground-based information at an average deviation of 2%. According to the Fourier analysis results, the distribution of amplitudes and the periods of TOC oscillations within a range of over 14 months is similar for all series analyzed. Meanwhile, according to the cross-wavelet and composite analyses results, the phase relationships between the series may considerably differ, especially in the periods of 5-7 years. The phase of quasi-decennial oscillations in the Kunming Station is close to the 11-year oscillations of the solar cycle, while in the Huang He and Issyk-Kul stations the TOC variations go ahead of the solar cycle.

  19. GIS-modelling of the spatial variability of flash flood hazard in Abu Dabbab catchment, Red Sea Region, Egypt

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    Islam Abou El-Magd

    2010-06-01

    Full Text Available In the mountainous area of the Red Sea region in southeastern Egypt, the development of new mining activities or/and domestic infrastructures require reliable and accurate information about natural hazards particularly flash flood. This paper presents the assessment of flash flood hazards in the Abu Dabbab drainage basin. Remotely sensed data were used to delineate the alluvial active channels, which were integrated with morphometric parameters extracted from digital elevation models (DEM into geographical information systems (GIS to construct a hydrological model that provides estimates about the amount of surface runoff as well as the magnitude of flash floods. The peak discharge is randomly varied at different cross-sections along the main channel. Under consistent 10 mm rainfall event, the selected cross-section in middle of the main channel is prone to maximum water depth at 80 cm, which decreases to nearly 30 cm at the outlet due to transmission loss. The estimation of spatial variability of flow parameters within the catchment at different confluences of the constituting sub-catchments can be considered and used in planning for engineering foundations and linear infrastructures with the least flash flood hazard. Such information would, indeed, help decision makers and planning to minimize such hazards.

  20. Identification and verification of hybridoma-derived monoclonal antibody variable region sequences using recombinant DNA technology and mass spectrometry.

    Science.gov (United States)

    Babrak, Lmar; McGarvey, Jeffery A; Stanker, Larry H; Hnasko, Robert

    2017-10-01

    Antibody engineering requires the identification of antigen binding domains or variable regions (VR) unique to each antibody. It is the VR that define the unique antigen binding properties and proper sequence identification is essential for functional evaluation and performance of recombinant antibodies (rAb). This determination can be achieved by sequence analysis of immunoglobulin (Ig) transcripts obtained from a monoclonal antibody (MAb) producing hybridoma and subsequent expression of a rAb. However the polyploidy nature of a hybridoma cell often results in the added expression of aberrant immunoglobulin-like transcripts or even production of anomalous antibodies which can confound production of rAb. An incorrect VR sequence will result in a non-functional rAb and de novo assembly of Ig primary structure without a sequence map is challenging. To address these problems, we have developed a methodology which combines: 1) selective PCR amplification of VR from both the heavy and light chain IgG from hybridoma, 2) molecular cloning and DNA sequence analysis and 3) tandem mass spectrometry (MS/MS) on enzyme digests obtained from the purified IgG. Peptide analysis proceeds by evaluating coverage of the predicted primary protein sequence provided by the initial DNA maps for the VR. This methodology serves to both identify and verify the primary structure of the MAb VR for production as rAb. Published by Elsevier Ltd.

  1. Landscape and Residential Variables Associated with Plague-Endemic Villages in the West Nile Region of Uganda

    Science.gov (United States)

    MacMillan, Katherine; Enscore, Russell E.; Ogen-Odoi, Asaph; Borchert, Jeff N.; Babi, Nackson; Amatre, Gerald; Atiku, Linda A.; Mead, Paul S.; Gage, Kenneth L.; Eisen, Rebecca J.

    2011-01-01

    Plague, caused by the bacteria Yersinia pestis, is a severe, often fatal disease. This study focuses on the plague-endemic West Nile region of Uganda, where limited information is available regarding environmental and behavioral risk factors associated with plague infection. We conducted observational surveys of 10 randomly selected huts within historically classified case and control villages (four each) two times during the dry season of 2006 (N = 78 case huts and N = 80 control huts), which immediately preceded a large plague outbreak. By coupling a previously published landscape-level statistical model of plague risk with this observational survey, we were able to identify potential residence-based risk factors for plague associated with huts within historic case or control villages (e.g., distance to neighboring homestead and presence of pigs near the home) and huts within areas previously predicted as elevated risk or low risk (e.g., corn and other annual crops grown near the home, water storage in the home, and processed commercial foods stored in the home). The identified variables are consistent with current ecologic theories on plague transmission dynamics. This preliminary study serves as a foundation for future case control studies in the area. PMID:21363983

  2. Registration in the Danish Regional Nonmelanoma Skin Cancer Dermatology Database: completeness of registration and accuracy of key variables

    Directory of Open Access Journals (Sweden)

    Anna L Lamberg

    2010-05-01

    Full Text Available Anna L Lamberg1, Deirdre Cronin-Fenton2, Anne B Olesen11Department of Dermatology, 2Department of Clinical Epidemiology, Aarhus University Hospital, Aarhus, C, DenmarkObjective: To validate a clinical database for nonmelanoma skin cancer (NMSC with the aim of monitoring and predicting the prognosis of NMSC treated by dermatologists in clinics in the central and north Denmark regions.Methods: We assessed the completeness of registration of patients and follow-up visits, and positive predictive value (PPV, negative predictive value (NPV, sensitivity, and specificity of registrations in the database. We used the Danish Pathology Registry (DPR (n = 288 and a review of randomly selected medical records (n = 67 from two clinics as gold standards.Results: The completeness of registration of patients was 62% and 76% with DPR and medical record review as gold standards, respectively. The completeness of registration of 1st and 2nd follow up visits was 85% and 69%, respectively. The PPV and NPV ranged from 85% to 99%, and the sensitivity and specificity from 67% to 100%.Conclusion: Overall, the accuracy of variables registered in the NMSC database was satisfactory but completeness of patient registration and follow-up visits were modest. The NMSC database is a potentially valuable tool for monitoring and facilitating improvement of NMSC treatment in dermatology clinics. However, there is still room for improvement of registration of both patients and their follow-up visits.Keywords: nonmelanoma skin cancer, validation, database, positive predictive value, completeness

  3. Long-Term Variability of UV Irradiance in the Moscow Region according to Measurement and Modeling Data

    Science.gov (United States)

    Chubarova, N. E.; Pastukhova, A. S.; Galin, V. Ya.; Smyshlyaev, S. P.

    2018-03-01

    We have found distinct long-period changes in erythemal UV radiation ( Q er) characterized by a pronounced decrease at the end of the 1970s and a statistically significant positive trend of more than 5%/10 years since 1979 over the territory of the Moscow region according to the measurements and reconstruction model. The positive Q er trend is shown to be associated mainly with a decrease in the effective cloud amount and total ozone content (TOC). Due to these variations, UV resources have significantly changed in spring for the population with the most vulnerable skin type I, which means a transition from the UV optimum to UV moderate excess conditions. The simulation experiments using the INM-RSHU chemistry climate model (CCM) for several scenarios with and without anthropogenic factors have revealed that the variations in the anthropogenic emissions of halogens have the most significant impact on the variability of TOC and Q er. Among natural factors, noticeable effects are observed due to volcanic aerosol. The calculations of the cloud transmittance of Q er are generally consistent with the measurements; however, they do not reproduce the observed value of the positive trend.

  4. Alternative splicing at exon 2 results in the loss of the catalytic activity of mouse DNA polymerase iota in vitro.

    Science.gov (United States)

    Kazachenko, Konstantin Y; Miropolskaya, Nataliya A; Gening, Leonid V; Tarantul, Vyacheslav Z; Makarova, Alena V

    2017-02-01

    Y-family DNA polymerase iota (Pol ι) possesses both DNA polymerase and dRP lyase activities and was suggested to be involved in DNA translesion synthesis and base excision repair in mammals. The 129 strain of mice and its derivatives have a natural nonsense codon mutation in the second exon of the Pol ι gene resulting in truncation of the Pol ι protein. These mice were widely used as a Pol ι-null model for in vivo studies of the Pol ι function. However whether 129-derived strains of mice are fully deficient in the Pol ι functions was a subject of discussion since Pol ι mRNA undergoes alternative splicing at exon 2. Here we report purification of mouse Pol ι lacking the region encoded by exon 2, which includes several conserved residues involved in catalysis. We show that the deletion abrogates both the DNA polymerase and dRP lyase activities of Pol ι in the presence of either Mg 2+ or Mn 2+ ions. Thus, 129-derived strains of mice express catalytically inactive alternatively spliced Pol ι variant, whose cellular functions, if any exist, remain to be established. Copyright © 2017 Elsevier B.V. All rights reserved.

  5. Skipping of exon 27 in C3 gene compromises TED domain and results in complete human C3 deficiency.

    Science.gov (United States)

    da Silva, Karina Ribeiro; Fraga, Tatiana Rodrigues; Lucatelli, Juliana Faggion; Grumach, Anete Sevciovic; Isaac, Lourdes

    2016-05-01

    Primary deficiency of complement C3 is rare and usually associated with increased susceptibility to bacterial infections. In this work, we investigated the molecular basis of complete C3 deficiency in a Brazilian 9-year old female patient with a family history of consanguinity. Hemolytic assays revealed complete lack of complement-mediated hemolytic activity in the patient's serum. While levels of the complement regulatory proteins Factor I, Factor H and Factor B were normal in the patient's and family members' sera, complement C3 levels were undetectable in the patient's serum and were reduced by at least 50% in the sera of the patient's parents and brother. Additionally, no C3 could be observed in the patient's plasma and cell culture supernatants by Western blot. We also observed that patient's skin fibroblasts stimulated with Escherichia coli LPS were unable to secrete C3, which might be accumulated within the cells before being intracellularly degraded. Sequencing analysis of the patient's C3 cDNA revealed a genetic mutation responsible for the complete skipping of exon 27, resulting in the loss of 99 nucleotides (3450-3549) located in the TED domain. Sequencing of the intronic region between the exons 26 and 27 of the C3 gene (nucleotides 6690313-6690961) showed a nucleotide exchange (T→C) at position 6690626 located in a splicing donor site, resulting in the complete skipping of exon 27 in the C3 mRNA. Copyright © 2016. Published by Elsevier GmbH.

  6. Technical Note: An operational landslide early warning system at regional scale based on space-time variable rainfall thresholds

    Science.gov (United States)

    Segoni, S.; Battistini, A.; Rossi, G.; Rosi, A.; Lagomarsino, D.; Catani, F.; Moretti, S.; Casagli, N.

    2014-10-01

    We set up an early warning system for rainfall-induced landslides in Tuscany (23 000 km2). The system is based on a set of state-of-the-art intensity-duration rainfall thresholds (Segoni et al., 2014b), makes use of LAMI rainfall forecasts and real-time rainfall data provided by an automated network of more than 300 rain-gauges. The system was implemented in a WebGIS to ease the operational use in civil protection procedures: it is simple and intuitive to consult and it provides different outputs. Switching among different views, the system is able to focus both on monitoring of real time data and on forecasting at different lead times up to 48 h. Moreover, the system can switch between a very straightforward view where a synoptic scenario of the hazard can be shown all over the region and a more in-depth view were the rainfall path of rain-gauges can be displayed and constantly compared with rainfall thresholds. To better account for the high spatial variability of the physical features, which affects the relationship between rainfall and landslides, the region is subdivided into 25 alert zones, each provided with a specific threshold. The warning system reflects this subdivision: using a network of 332 rain gauges, it allows monitoring each alert zone separately and warnings can be issued independently from an alert zone to another. An important feature of the warning system is the use of thresholds that may vary in time adapting at the conditions of the rainfall path recorded by the rain-gauges. Depending on when the starting time of the rainfall event is set, the comparison with the threshold may produce different outcomes. Therefore, a recursive algorithm was developed to check and compare with the thresholds all possible starting times, highlighting the worst scenario and showing in the WebGIS interface at what time and how much the rainfall path has exceeded or will exceed the most critical threshold. Besides forecasting and monitoring the hazard scenario

  7. Characterization of six mutations in Exon 37 of neurofibromatosis type 1 gene

    Energy Technology Data Exchange (ETDEWEB)

    Upadhyaya, M.; Osborn, M.; Maynard, J.; Harper, P. [Institute of Medical Genetics, Cardiff, Wales (United Kingdom)

    1996-07-26

    Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders, with an incidence of 1 in 3,000. We screened a total of 320 unrelated NF1 patients for mutations in exon 37 of the NF1 gene. Six independent mutations were identified, of which three are novel, and these include a recurrent nonsense mutation identified in 2 unrelated patients at codon 2281 (G2281X), a 1-bp insertion (6791 ins A) resulting in a change of TAG (tyrosine) to a TAA (stop codon), and a 3-bp deletion (6839 del TAC) which generated a frameshift. Another recurrent nonsense mutation, Y2264X, which was detected in 2 unrelated patients in this study, was also previously reported in 2 NF1 individuals. All the mutations were identified within a contiguous 49-bp sequence. Further studies are warranted to support the notion that this region of the gene contains highly mutable sequences. 17 refs., 2 figs., 1 tab.

  8. Detection of MPL exon10 mutations in 103 Chinese patients with JAK2V617F-negative myeloproliferative neoplasms.

    Science.gov (United States)

    Chen, Xiuhua; Qi, Xiling; Tan, Yanhong; Xu, Zhifang; Xu, Aining; Zhang, Linlin; Wang, Hongwei

    2011-06-15

    JAK2V617F mutation has been reported in 90% of patients with polycythemia vera (PV) and about 50% of patients with essential thromobocythemia (ET) and primary myelofibrosis (PMF). Recently, acquired mutations in the transmembrane-juxtamembrane region of MPL (MPLW515 mutations) have been reported in approximately 5% of JAK2V617F-negative PMF and about 1% of all cases of ET. MPL is the receptor for thrombopoietin that regulates the production of platelets by bone marrow. It is likely that some mutations more closely related to ET in MPL exon10 may have been missed by current assays. We inferred that there might be other mutations in MPL exon10 for MPN patients in addition to MPLW515 mutations. To investigate its mutation types and prevalence in Chinese patients with myeloproliferative neoplasms (MPN), we performed mutation detection on MPL exon10 in 103 JAK2V617F-negative MPN patients by single strand conformation polymorphism (SSCP) and allele-specific PCR (AS-PCR) combined with sequencing. As a result, one previously unrecognized MPL mutation (12-bp in-frame insertion) was identified in one patient with ET in addition to an MPLW515K mutation identified in one PMF patient. This confirms our hypothesis that BCR/ABL negative and JAK2V617F-negative MPN patients have other mutations besides W515 mutation in MPL exon10 and mutations other than single nucleotide exchange also exist. In addition, MPL mutation was associated with Chinese MPN patients. Copyright © 2011 Elsevier Inc. All rights reserved.

  9. In situ study of the impact of inter- and intra-reader variability on region of interest (ROI) analysis in preclinical molecular imaging.

    Science.gov (United States)

    Habte, Frezghi; Budhiraja, Shradha; Keren, Shay; Doyle, Timothy C; Levin, Craig S; Paik, David S

    2013-01-01

    We estimated reader-dependent variability of region of interest (ROI) analysis and evaluated its impact on preclinical quantitative molecular imaging. To estimate reader variability, we used five independent image datasets acquired each using microPET and multispectral fluorescence imaging (MSFI). We also selected ten experienced researchers who utilize molecular imaging in the same environment that they typically perform their own studies. Nine investigators blinded to the data type completed the ROI analysis by drawing ROIs manually that delineate the tumor regions to the best of their knowledge and repeated the measurements three times, non-consecutively. Extracted mean intensities of voxels within each ROI are used to compute the coefficient of variation (CV) and characterize the inter- and intra-reader variability. The impact of variability was assessed through random samples iterated from normal distributions for control and experimental groups on hypothesis testing and computing statistical power by varying subject size, measured difference between groups and CV. The results indicate that inter-reader variability was 22.5% for microPET and 72.2% for MSFI. Additionally, mean intra-reader variability was 10.1% for microPET and 26.4% for MSFI. Repeated statistical testing showed that a total variability of CV variability has been observed mainly due to differences in the ROI placement and geometry drawn between readers, which may adversely affect statistical power and erroneously lead to negative study outcomes.

  10. Efficient Detection of Copy Number Mutations in PMS2 Exons with a Close Homolog.

    Science.gov (United States)

    Herman, Daniel S; Smith, Christina; Liu, Chang; Vaughn, Cecily P; Palaniappan, Selvi; Pritchard, Colin C; Shirts, Brian H

    2018-07-01

    Detection of 3' PMS2 copy-number mutations that cause Lynch syndrome is difficult because of highly homologous pseudogenes. To improve the accuracy and efficiency of clinical screening for these mutations, we developed a new method to analyze standard capture-based, next-generation sequencing data to identify deletions and duplications in PMS2 exons 9 to 15. The approach captures sequences using PMS2 targets, maps sequences randomly among regions with equal mapping quality, counts reads aligned to homologous exons and introns, and flags read count ratios outside of empirically derived reference ranges. The method was trained on 1352 samples, including 8 known positives, and tested on 719 samples, including 17 known positives. Clinical implementation of the first version of this method detected new mutations in the training (N = 7) and test (N = 2) sets that had not been identified by our initial clinical testing pipeline. The described final method showed complete sensitivity in both sample sets and false-positive rates of 5% (training) and 7% (test), dramatically decreasing the number of cases needing additional mutation evaluation. This approach leveraged the differences between gene and pseudogene to distinguish between PMS2 and PMS2CL copy-number mutations. These methods enable efficient and sensitive Lynch syndrome screening for 3' PMS2 copy-number mutations and may be applied similarly to other genomic regions with highly homologous pseudogenes. Copyright © 2018 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

  11. Lex-SVM: exploring the potential of exon expression profiling for disease classification.

    Science.gov (United States)

    Yuan, Xiongying; Zhao, Yi; Liu, Changning; Bu, Dongbo

    2011-04-01

    Exon expression profiling technologies, including exon arrays and RNA-Seq, measure the abundance of every exon in a gene. Compared with gene expression profiling technologies like 3' array, exon expression profiling technologies could detect alterations in both transcription and alternative splicing, therefore they are expected to be more sensitive in diagnosis. However, exon expression profiling also brings higher dimension, more redundancy, and significant correlation among features. Ignoring the correlation structure among exons of a gene, a popular classification method like L1-SVM selects exons individually from each gene and thus is vulnerable to noise. To overcome this limitation, we present in this paper a new variant of SVM named Lex-SVM to incorporate correlation structure among exons and known splicing patterns to promote classification performance. Specifically, we construct a new norm, ex-norm, including our prior knowledge on exon correlation structure to regularize the coefficients of a linear SVM. Lex-SVM can be solved efficiently using standard linear programming techniques. The advantage of Lex-SVM is that it can select features group-wisely, force features in a subgroup to take equal weihts and exclude the features that contradict the majority in the subgroup. Experimental results suggest that on exon expression profile, Lex-SVM is more accurate than existing methods. Lex-SVM also generates a more compact model and selects genes more consistently in cross-validation. Unlike L1-SVM selecting only one exon in a gene, Lex-SVM assigns equal weights to as many exons in a gene as possible, lending itself easier for further interpretation.

  12. Biased exonization of transposed elements in duplicated genes: A lesson from the TIF-IA gene

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    Shomron Noam

    2007-11-01

    Full Text Available Abstract Background Gene duplication and exonization of intronic transposed elements are two mechanisms that enhance genomic diversity. We examined whether there is less selection against exonization of transposed elements in duplicated genes than in single-copy genes. Results Genome-wide analysis of exonization of transposed elements revealed a higher rate of exonization within duplicated genes relative to single-copy genes. The gene for TIF-IA, an RNA polymerase I transcription initiation factor, underwent a humanoid-specific triplication, all three copies of the gene are active transcriptionally, although only one copy retains the ability to generate the TIF-IA protein. Prior to TIF-IA triplication, an Alu element was inserted into the first intron. In one of the non-protein coding copies, this Alu is exonized. We identified a single point mutation leading to exonization in one of the gene duplicates. When this mutation was introduced into the TIF-IA coding copy, exonization was activated and the level of the protein-coding mRNA was reduced substantially. A very low level of exonization was detected in normal human cells. However, this exonization was abundant in most leukemia cell lines evaluated, although the genomic sequence is unchanged in these cancerous cells compared to normal cells. Conclusion The definition of the Alu element within the TIF-IA gene as an exon is restricted to certain types of cancers; the element is not exonized in normal human cells. These results further our understanding of the delicate interplay between gene duplication and alternative splicing and of the molecular evolutionary mechanisms leading to genetic innovations. This implies the existence of purifying selection against exonization in single copy genes, with duplicate genes free from such constrains.

  13. Features of ozone intraannual variability in polar regions based on ozone sounding data obtained at the Resolute and Amundsen-Scott stations

    Energy Technology Data Exchange (ETDEWEB)

    Gruzdev, A.N.; Sitnov, S.A. (AN SSSR, Institut Fiziki Atmosfery, Moscow (USSR))

    1991-04-01

    Ozone sounding data obtained at the Resolute and Amundsen-Scott stations are used to analyze ozone intraannual variability in Southern and Northern polar regions. For the Arctic, in particular, features associated with winter stratospheric warmings, stratospheric-tropospheric exchange, and the isolated evolution of surface ozone are noted. Correlative connections between ozone and temperature making it possible to concretize ozone variability mechanisms are analyzed. 31 refs.

  14. Drought mitigation in perennial crops by fertilization and adjustments of regional yield models for future climate variability

    Science.gov (United States)

    Kantola, I. B.; Blanc-Betes, E.; Gomez-Casanovas, N.; Masters, M. D.; Bernacchi, C.; DeLucia, E. H.

    2017-12-01

    Increased variability and intensity of precipitation in the Midwest agricultural belt due to climate change is a major concern. The success of perennial bioenergy crops in replacing maize for bioethanol production is dependent on sustained yields that exceed maize, and the marketing of perennial crops often emphasizes the resilience of perennial agriculture to climate stressors. Land conversion from maize for bioethanol to Miscanthus x giganteus (miscanthus) increases yields and annual evapotranspiration rates (ET). However, establishment of miscanthus also increases biome water use efficiency (the ratio between net ecosystem productivity after harvest and ET), due to greater belowground biomass in miscanthus than in maize or soybean. In 2012, a widespread drought reduced the yield of 5-year-old miscanthus plots in central Illinois by 36% compared to the previous two years. Eddy covariance data indicated continued soil water deficit during the hydrologically-normal growing season in 2013 and miscanthus yield failed to rebound as expected, lagging behind pre-drought yields by an average of 53% over the next three years. In early 2014, nitrogen fertilizer was applied to half of mature (7-year-old) miscanthus plots in an effort to improve yields. In plots with annual post-emergence application of 60 kg ha-1 of urea, peak biomass was 29% greater than unfertilized miscanthus in 2014, and 113% greater in 2015, achieving statistically similar yields to the pre-drought average. Regional-scale models of perennial crop productivity use 30-year climate averages that are inadequate for predicting long-term effects of short-term extremes on perennial crops. Modeled predictions of perennial crop productivity incorporating repeated extreme weather events, observed crop response, and the use of management practices to mitigate water deficit demonstrate divergent effects on predicted yields.

  15. Control region variability of haplogroup C1d and the tempo of the peopling of the Americas.

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    Gonzalo Figueiro

    Full Text Available BACKGROUND: Among the founding mitochondrial haplogroups involved in the peopling of the Americas, haplogroup C1d has been viewed as problematic because of its phylogeny and because of the estimates of its antiquity, apparently being much younger than other founding haplogroups. Several recent analyses, based on data from the entire mitochondrial genome, have contributed to an advance in the resolution of these problems. The aim of our analysis is to compare the conclusions drawn from the available HVR-I and HVR-II data for haplogroup C1d with the ones based on whole mitochondrial genomes. METHODOLOGY/PRINCIPAL FINDINGS: HVR-I and HVR-II sequences defined as belonging to haplogroup C1d by standard criteria were gathered from the literature as well as from population studies carried out in Uruguay. Sequence phylogeny was reconstructed using median-joining networks, geographic distribution of lineages was analyzed and the age of the most recent common ancestor estimated using the ρ-statistic and two different mutation rates. The putative ancestral forms of the haplogroup were found to be more widespread than the derived lineages, and the lineages defined by np 194 were found to be widely distributed and of equivalent age. CONCLUSIONS/SIGNIFICANCE: The analysis of control region sequences is found to still harbor great potential in tracing microevolutionary phenomena, especially those found to have occurred in more recent times. Based on the geographic distributions of the alleles of np 7697 and np 194, both discussed as possible basal mutations of the C1d phylogeny, we suggest that both alleles were part of the variability of the haplogroup at the time of its entrance. Moreover, based on the mutation rates of the different sites stated to be diagnostic, it is possible that the anomalies found when analyzing the haplogroup are due to paraphyly.

  16. Exonic variants associated with development of aspirin exacerbated respiratory diseases.

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    Seung-Woo Shin

    Full Text Available Aspirin-exacerbated respiratory disease (AERD is one phenotype of asthma, often occurring in the form of a severe and sudden attack. Due to the time-consuming nature and difficulty of oral aspirin challenge (OAC for AERD diagnosis, non-invasive biomarkers have been sought. The aim of this study was to identify AERD-associated exonic SNPs and examine the diagnostic potential of a combination of these candidate SNPs to predict AERD. DNA from 165 AERD patients, 397 subjects with aspirin-tolerant asthma (ATA, and 398 normal controls were subjected to an Exome BeadChip assay containing 240K SNPs. 1,023 models (210-1 were generated from combinations of the top 10 SNPs, selected by the p-values in association with AERD. The area under the curve (AUC of the receiver operating characteristic (ROC curves was calculated for each model. SNP Function Portal and PolyPhen-2 were used to validate the functional significance of candidate SNPs. An exonic SNP, exm537513 in HLA-DPB1, showed the lowest p-value (p = 3.40×10-8 in its association with AERD risk. From the top 10 SNPs, a combination model of 7 SNPs (exm537513, exm83523, exm1884673, exm538564, exm2264237, exm396794, and exm791954 showed the best AUC of 0.75 (asymptotic p-value of 7.94×10-21, with 34% sensitivity and 93% specificity to discriminate AERD from ATA. Amino acid changes due to exm83523 in CHIA were predicted to be "probably damaging" to the structure and function of the protein, with a high score of '1'. A combination model of seven SNPs may provide a useful, non-invasive genetic marker combination for predicting AERD.

  17. Exon microarray analysis of human dorsolateral prefrontal cortex in alcoholism.

    Science.gov (United States)

    Manzardo, Ann M; Gunewardena, Sumedha; Wang, Kun; Butler, Merlin G

    2014-06-01

    Alcohol abuse is associated with cellular and biochemical disturbances that impact upon protein and nucleic acid synthesis, brain development, function, and behavioral responses. To further characterize the genetic influences in alcoholism and the effects of alcohol consumption on gene expression, we used a highly sensitive exon microarray to examine mRNA expression in human frontal cortex of alcoholics and control males. Messenger RNA was isolated from the dorsolateral prefrontal cortex (dlPFC; Brodmann area 9) of 7 adult alcoholic (6 males, 1 female, mean age 49 years) and 7 matched controls. Affymetrix Human Exon 1.0 ST array was performed according to standard procedures and the results analyzed at the gene level. Microarray findings were validated using quantitative reverse transcription polymerase chain reaction, and the ontology of disturbed genes characterized using Ingenuity Pathway Analysis (IPA). Decreased mRNA expression was observed for genes involved in cellular adhesion (e.g., CTNNA3, ITGA2), transport (e.g., TF, ABCA8), nervous system development (e.g., LRP2, UGT8, GLDN), and signaling (e.g., RASGRP3, LGR5) with influence over lipid and myelin synthesis (e.g., ASPA, ENPP2, KLK6). IPA identified disturbances in network functions associated with neurological disease and development including cellular assembly and organization impacting on psychological disorders. Our data in alcoholism support a reduction in expression of dlPFC mRNA for genes involved with neuronal growth, differentiation, and signaling that targets white matter of the brain. Copyright © 2014 by the Research Society on Alcoholism.

  18. The effects of multiple features of alternatively spliced exons on the KA/KS ratio test

    Directory of Open Access Journals (Sweden)

    Chen Feng-Chi

    2006-05-01

    Full Text Available Abstract Background The evolution of alternatively spliced exons (ASEs is of primary interest because these exons are suggested to be a major source of functional diversity of proteins. Many exon features have been suggested to affect the evolution of ASEs. However, previous studies have relied on the KA/KS ratio test without taking into consideration information sufficiency (i.e., exon length > 75 bp, cross-species divergence > 5% of the studied exons, leading to potentially biased interpretations. Furthermore, which exon feature dominates the results of the KA/KS ratio test and whether multiple exon features have additive effects have remained unexplored. Results In this study, we collect two different datasets for analysis – the ASE dataset (which includes lineage-specific ASEs and conserved ASEs and the ACE dataset (which includes only conserved ASEs. We first show that information sufficiency can significantly affect the interpretation of relationship between exons features and the KA/KS ratio test results. After discarding exons with insufficient information, we use a Boolean method to analyze the relationship between test results and four exon features (namely length, protein domain overlapping, inclusion level, and exonic splicing enhancer (ESE frequency for the ASE dataset. We demonstrate that length and protein domain overlapping are dominant factors, and they have similar impacts on test results of ASEs. In addition, despite the weak impacts of inclusion level and ESE motif frequency when considered individually, combination of these two factors still have minor additive effects on test results. However, the ACE dataset shows a slightly different result in that inclusion level has a marginally significant effect on test results. Lineage-specific ASEs may have contributed to the difference. Overall, in both ASEs and ACEs, protein domain overlapping is the most dominant exon feature while ESE frequency is the weakest one in affecting

  19. Computer analysis of protein functional sites projection on exon structure of genes in Metazoa.

    Science.gov (United States)

    Medvedeva, Irina V; Demenkov, Pavel S; Ivanisenko, Vladimir A

    2015-01-01

    Study of the relationship between the structural and functional organization of proteins and their coding genes is necessary for an understanding of the evolution of molecular systems and can provide new knowledge for many applications for designing proteins with improved medical and biological properties. It is well known that the functional properties of proteins are determined by their functional sites. Functional sites are usually represented by a small number of amino acid residues that are distantly located from each other in the amino acid sequence. They are highly conserved within their functional group and vary significantly in structure between such groups. According to this facts analysis of the general properties of the structural organization of the functional sites at the protein level and, at the level of exon-intron structure of the coding gene is still an actual problem. One approach to this analysis is the projection of amino acid residue positions of the functional sites along with the exon boundaries to the gene structure. In this paper, we examined the discontinuity of the functional sites in the exon-intron structure of genes and the distribution of lengths and phases of the functional site encoding exons in vertebrate genes. We have shown that the DNA fragments coding the functional sites were in the same exons, or in close exons. The observed tendency to cluster the exons that code functional sites which could be considered as the unit of protein evolution. We studied the characteristics of the structure of the exon boundaries that code, and do not code, functional sites in 11 Metazoa species. This is accompanied by a reduced frequency of intercodon gaps (phase 0) in exons encoding the amino acid residue functional site, which may be evidence of the existence of evolutionary limitations to the exon shuffling. These results characterize the features of the coding exon-intron structure that affect the functionality of the encoded protein and

  20. Collaborative Proposal: Improving Decadal Prediction of Arctic Climate Variability and Change Using a Regional Arctic System Model (RASM)

    Energy Technology Data Exchange (ETDEWEB)

    Robertson, William [Univ. of Texas, El Paso, TX (United States)

    2016-11-18

    RASM is a multi-disciplinary project, which brings together researchers from six state universities, one military postgraduate school, and one DoE laboratory to address the core modeling objectives of the arctic research community articulated in the Arctic System Modeling report by Roberts et al. (2010b). This report advocates the construction of a regional downscaling tool to generate probabilistic decadal projections of Greenland ice sheet retreat, evolution of arctic sea ice cover, changes in land surface vegetation, and regional processes leading to arctic amplification. Unified coupled models such as RASM are ideal for this purpose because they simulate fine-scale physics, essential for the realistic representation of intra-annual variability, in addition to processes fundamental to long term climatic shifts (Hurrell et al. 2009). By using RASM with boundary conditions from a global model, we can generate many-member ensembles essential for understanding uncertainty in regional climate projections (Hawkins and Sutton 2009). This probabilistic approach is computationally prohibitive for high-resolution global models in the foreseeable future, and also for regional models interactively nested within global simulations. Yet it is fundamental for quantifying uncertainty in decadal forecasts to make them useful for decision makers (Doherty et al. 2009). For this reason, we have targeted development of ensemble generation techniques as a core project task (Task 4.5). Environmental impact assessment specialists need high-fidelity regional ensemble projections to improve the accuracy of their work (Challinor et al. 2009; Moss et al. 2010). This is especially true of the Arctic, where economic, social and national interests are rapidly reshaping the high north in step with regional climate change. During the next decade, considerable oil and gas discoveries are expected across many parts of the marine and terrestrial Arctic (Gautier et al. 2009), the economics of the

  1. Exploring the Links in Monthly to Decadal Variability of the Atmospheric Water Balance Over the Wettest Regions in ERA-20C

    Science.gov (United States)

    Nogueira, M.

    2017-10-01

    Monthly-to-decadal variability of the regional precipitation over Intertropical Convergence Zone and north-Atlantic and north-Pacific storm tracks was investigated using ERA-20C reanalysis. Satellite-based precipitation (P) and evaporation (E) climatological patterns were well reproduced by ERA-20C. Regional P and E monthly time series displayed 20% differences, but these decreased rapidly with time scale ( 10% at yearly time scales). Spectral analysis showed good scale-by-scale statistical agreement between ERA-20C and observations. Using ERA-Interim showed no improvement despite the much wider range of information assimilated (including satellites). Remarkably high Detrended Cross-Correlation Analysis coefficients (ρDCCA > 0.7 and often ρDCCA > 0.9) revealed tight links between the nonperiodic variability of P, moisture divergence (DIV), and pressure velocity (ω) at monthly-to-decadal time scales over all the wet regions. In contrast, ρDCCA was essentially nonsignificant between nonperiodic P and E or sea surface temperature (SST). Thus, the nonperiodic monthly-to-decadal variability of precipitation in these regions is almost fully controlled by dynamics and not by local E or SST (suggested by Clausius-Clapeyron relation). Analysis of regional nonperiodic standard deviations and power spectra (and respective spectral exponents, β) provided further robustness to this conclusion. Finally, clear transitions in β for P, DIV, and ω between tropical and storm track regions were found. The latter is dominated by transient storms, with energy accumulation at synoptic scales and β β values (0.2 to 0.4) were found in the tropics, implying longer-range autocorrelations and slower decreasing variability and information creation with time scale, consistent with the important forcing from internal modes of variability (e.g., El Niño-Southern Oscillation).

  2. Longitudinal changes in glucocorticoid receptor exon 1F methylation and psychopathology after military deployment.

    Science.gov (United States)

    Schür, R R; Boks, M P; Rutten, B P F; Daskalakis, N P; de Nijs, L; van Zuiden, M; Kavelaars, A; Heijnen, C J; Joëls, M; Kahn, R S; Geuze, E; Vermetten, E; Vinkers, C H

    2017-07-25

    Several cross-sectional studies have demonstrated the relevance of DNA methylation of the glucocorticoid receptor exon 1 F region (GR-1 F ) for trauma-related psychopathology. We conducted a longitudinal study to examine GR-1 F methylation changes over time in relation to trauma exposure and the development of post-deployment psychopathology. GR-1 F methylation (52 loci) was quantified using pyrosequencing in whole blood of 92 military men 1 month before and 6 months after a 4-month deployment period to Afghanistan. GR-1 F methylation overall (mean methylation and the number of methylated loci) and functional methylation (methylation at loci associated with GR exon 1 F expression) measures were examined. We first investigated the effect of exposure to potentially traumatic events during deployment on these measures. Subsequently, changes in GR-1 F methylation were related to changes in mental health problems (total Symptom Checklist-90 score) and posttraumatic stress disorder (PTSD) symptoms (Self-Report Inventory for PTSD). Trauma exposure during deployment was associated with an increase in all methylation measures, but development of mental health problems 6 months after deployment was only significantly associated with an increased functional methylation. Emergence of post-deployment PTSD symptoms was not related to increased functional methylation over time. Pre-deployment methylation levels did not predict post-deployment psychopathology. To our knowledge, this is the first study to prospectively demonstrate trauma-related increases in GR-1 F methylation, and it shows that only increases at specific functionally relevant sites predispose for post-deployment psychopathology.

  3. Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

    Directory of Open Access Journals (Sweden)

    Lacombe Didier

    2011-05-01

    Full Text Available Abstract Background Usher syndrome (USH combines sensorineural deafness with blindness. It is inherited in an autosomal recessive mode. Early diagnosis is critical for adapted educational and patient management choices, and for genetic counseling. To date, nine causative genes have been identified for the three clinical subtypes (USH1, USH2 and USH3. Current diagnostic strategies make use of a genotyping microarray that is based on the previously reported mutations. The purpose of this study was to design a more accurate molecular diagnosis tool. Methods We sequenced the 366 coding exons and flanking regions of the nine known USH genes, in 54 USH patients (27 USH1, 21 USH2 and 6 USH3. Results Biallelic mutations were detected in 39 patients (72% and monoallelic mutations in an additional 10 patients (18.5%. In addition to biallelic mutations in one of the USH genes, presumably pathogenic mutations in another USH gene were detected in seven patients (13%, and another patient carried monoallelic mutations in three different USH genes. Notably, none of the USH3 patients carried detectable mutations in the only known USH3 gene, whereas they all carried mutations in USH2 genes. Most importantly, the currently used microarray would have detected only 30 of the 81 different mutations that we found, of which 39 (48% were novel. Conclusions Based on these results, complete exon sequencing of the currently known USH genes stands as a definite improvement for molecular diagnosis of this disease, which is of utmost importance in the perspective of gene therapy.

  4. Monoclonal Antibodies Directed toward the Hepatitis C Virus Glycoprotein E2 Detect Antigenic Differences Modulated by the N-Terminal Hypervariable Region 1 (HVR1), HVR2, and Intergenotypic Variable Region.

    Science.gov (United States)

    Alhammad, Yousef; Gu, Jun; Boo, Irene; Harrison, David; McCaffrey, Kathleen; Vietheer, Patricia T; Edwards, Stirling; Quinn, Charles; Coulibaly, Fásseli; Poumbourios, Pantelis; Drummer, Heidi E

    2015-12-01

    Hepatitis C virus (HCV) envelope glycoproteins E1 and E2 form a heterodimer and mediate receptor interactions and viral fusion. Both E1 and E2 are targets of the neutralizing antibody (NAb) response and are candidates for the production of vaccines that generate humoral immunity. Previous studies demonstrated that N-terminal hypervariable region 1 (HVR1) can modulate the neutralization potential of monoclonal antibodies (MAbs), but no information is available on the influence of HVR2 or the intergenotypic variable region (igVR) on antigenicity. In this study, we examined how the variable regions influence the antigenicity of the receptor binding domain of E2 spanning HCV polyprotein residues 384 to 661 (E2661) using a panel of MAbs raised against E2661 and E2661 lacking HVR1, HVR2, and the igVR (Δ123) and well-characterized MAbs isolated from infected humans. We show for a subset of both neutralizing and nonneutralizing MAbs that all three variable regions decrease the ability of MAbs to bind E2661 and reduce the ability of MAbs to inhibit E2-CD81 interactions. In addition, we describe a new MAb directed toward the region spanning residues 411 to 428 of E2 (MAb24) that demonstrates broad neutralization against all 7 genotypes of HCV. The ability of MAb24 to inhibit E2-CD81 interactions is strongly influenced by the three variable regions. Our data suggest that HVR1, HVR2, and the igVR modulate exposure of epitopes on the core domain of E2 and their ability to prevent E2-CD81 interactions. These studies suggest that the function of HVR2 and the igVR is to modulate antibody recognition of glycoprotein E2 and may contribute to immune evasion. This study reveals conformational and antigenic differences between the Δ123 and intact E2661 glycoproteins and provides new structural and functional data about the three variable regions and their role in occluding neutralizing and nonneutralizing epitopes on the E2 core domain. The variable regions may therefore function to

  5. EXONSAMPLER: a computer program for genome-wide and candidate gene exon sampling for targeted next-generation sequencing.

    Science.gov (United States)

    Cosart, Ted; Beja-Pereira, Albano; Luikart, Gordon

    2014-11-01

    The computer program EXONSAMPLER automates the sampling of thousands of exon sequences from publicly available reference genome sequences and gene annotation databases. It was designed to provide exon sequences for the efficient, next-generation gene sequencing method called exon capture. The exon sequences can be sampled by a list of gene name abbreviations (e.g. IFNG, TLR1), or by sampling exons from genes spaced evenly across chromosomes. It provides a list of genomic coordinates (a bed file), as well as a set of sequences in fasta format. User-adjustable parameters for collecting exon sequences include a minimum and maximum acceptable exon length, maximum number of exonic base pairs (bp) to sample per gene, and maximum total bp for the entire collection. It allows for partial sampling of very large exons. It can preferentially sample upstream (5 prime) exons, downstream (3 prime) exons, both external exons, or all internal exons. It is written in the Python programming language using its free libraries. We describe the use of EXONSAMPLER to collect exon sequences from the domestic cow (Bos taurus) genome for the design of an exon-capture microarray to sequence exons from related species, including the zebu cow and wild bison. We collected ~10% of the exome (~3 million bp), including 155 candidate genes, and ~16,000 exons evenly spaced genomewide. We prioritized the collection of 5 prime exons to facilitate discovery and genotyping of SNPs near upstream gene regulatory DNA sequences, which control gene expression and are often under natural selection. © 2014 John Wiley & Sons Ltd.

  6. Preliminary results from the ESA STSE project on SST diurnal variability, its regional extent and implications in atmospheric modelling (SSTDV:R.EX.–IM.A.M.)

    DEFF Research Database (Denmark)

    Karagali, Ioanna; Hasager, Charlotte Bay; Høyer, Jacob L.

    2013-01-01

    This study presents some preliminary results of the ESA Support To Science Element (STSE) funded project on the Diurnal Variability of the Sea Surface Temperature, regarding its Regional Extend and Implications in Atmospheric Modelling (SSTDV:R.EX.–IM.A.M.). Comparisons of SEVIRI SST with AATSR...

  7. Polymorphism in exons of the myostatin gene and its relationship with body weight traits in the Bian chicken.

    Science.gov (United States)

    Zhang, Genxi; Ding, Fuxiang; Wang, Jinyu; Dai, Guojun; Xie, Kaizhou; Zhang, Lijun; Wang, Wei; Zhou, Shenghua

    2011-02-01

    In our research, single nucleotide polymorphisms (SNPs) of exon regions of the myostatin gene were detected by PCR-SSCP in the Bian chicken and three reference chicken populations (Jinghai, Youxi, and Arbor Acre). Four novel SNPs (G2283A, C7552T, C7638T, and T7661A) were detected. The findings from the least square means showed that Bian chickens with EE and DE genotypes had significantly higher body weight, at 6-18 weeks of age, than those of the DD genotype (P chicken.

  8. The role of exon shuffling in shaping protein-protein interaction networks

    Directory of Open Access Journals (Sweden)

    França Gustavo S

    2010-12-01

    Full Text Available Abstract Background Physical protein-protein interaction (PPI is a critical phenomenon for the function of most proteins in living organisms and a significant fraction of PPIs are the result of domain-domain interactions. Exon shuffling, intron-mediated recombination of exons from existing genes, is known to have been a major mechanism of domain shuffling in metazoans. Thus, we hypothesized that exon shuffling could have a significant influence in shaping the topology of PPI networks. Results We tested our hypothesis by compiling exon shuffling and PPI data from six eukaryotic species: Homo sapiens, Mus musculus, Drosophila melanogaster, Caenorhabditis elegans, Cryptococcus neoformans and Arabidopsis thaliana. For all four metazoan species, genes enriched in exon shuffling events presented on average higher vertex degree (number of interacting partners in PPI networks. Furthermore, we verified that a set of protein domains that are simultaneously promiscuous (known to interact to multiple types of other domains, self-interacting (able to interact with another copy of themselves and abundant in the genomes presents a stronger signal for exon shuffling. Conclusions Exon shuffling appears to have been a recurrent mechanism for the emergence of new PPIs along metazoan evolution. In metazoan genomes, exon shuffling also promoted the expansion of some protein domains. We speculate that their promiscuous and self-interacting properties may have been decisive for that expansion.

  9. Regional deep hyperthermia: impact of observer variability in CT-based manual tissue segmentation on simulated temperature distribution

    Science.gov (United States)

    Aklan, Bassim; Hartmann, Josefin; Zink, Diana; Siavooshhaghighi, Hadi; Merten, Ricarda; Putz, Florian; Ott, Oliver; Fietkau, Rainer; Bert, Christoph

    2017-06-01

    The aim of this study was to systematically investigate the influence of the inter- and intra-observer segmentation variation of tumors and organs at risk on the simulated temperature coverage of the target. CT scans of six patients with tumors in the pelvic region acquired for radiotherapy treatment planning were used for hyperthermia treatment planning. To study the effect of inter-observer variation, three observers manually segmented in the CT images of each patient the following structures: fat, muscle, bone and the bladder. The gross tumor volumes (GTV) were contoured by three radiation oncology residents and used as the hyperthermia target volumes. For intra-observer variation, one of the observers of each group contoured the structures of each patient three times with a time span of one week between the segmentations. Moreover, the impact of segmentation variations in organs at risk (OARs) between the three inter-observers was investigated on simulated temperature distributions using only one GTV. The spatial overlap between individual segmentations was assessed by the Dice similarity coefficient (DSC) and the mean surface distance (MSD). Additionally, the temperatures T90/T10 delivered to 90%/10% of the GTV, respectively, were assessed for each observer combination. The results of the segmentation similarity evaluation showed that the DSC of the inter-observer variation of fat, muscle, the bladder, bone and the target was 0.68  ±  0.12, 0.88  ±  0.05, 0.73  ±  0.14, 0.91  ±  0.04 and 0.64  ±  0.11, respectively. Similar results were found for the intra-observer variation. The MSD results were similar to the DSCs for both observer variations. A statistically significant difference (p  <  0.05) was found for T90 and T10 in the predicted target temperature due to the observer variability. The conclusion is that intra- and inter-observer variations have a significant impact on the temperature coverage of the

  10. Characterization of genetic deletions in Becker muscular dystrophy using monoclonal antibodies against a deletion-prone region of dystrophin

    Energy Technology Data Exchange (ETDEWEB)

    Thanh, L.T.; Man, Nguyen Thi; Morris, G.E. [Wales Institute, Clwyd (United Kingdom)] [and others

    1995-08-28

    We have produced a new panel of 20 monoclonal antibodies (mAbs) against a region of the dystrophin protein corresponding to a deletion-prone region of the Duchenne muscular dystrophy gene (exons 45-50). We show that immunohistochemistry or Western blotting with these {open_quotes}exon-specific{close_quotes} mAbs can provide a valuable addition to Southern blotting or PCR methods for the accurate identification of genetic deletions in Becker muscular dystrophy patients. The antibodies were mapped to the following exons: exon 45 (2 mAbs), exon 46 (6), exon 47 (1), exons 47/48 (4), exons 48-50 (6), and exon 50 (1). PCR amplification of single exons or groups of exons was used both to produce specific dystrophin immunogens and to map the mAbs obtained. PCR-mediated mutagenesis was also used to identify regions of dystrophin important for mAb binding. Because the mAbs can be used to characterize the dystrophin produced by individual muscle fibres, they will also be useful for studying {open_quotes}revertant{close_quotes} fibres in Duchenne muscle and for monitoring the results of myoblast therapy trials in MD patients with deletions in this region of the dystrophin gene. 27 refs., 7 figs., 3 tabs.

  11. An Enhancer Near ISL1 and an Ultraconserved Exon of PCBP2 areDerived from a Retroposon

    Energy Technology Data Exchange (ETDEWEB)

    Bejerano, Gill; Lowe, Craig; Ahituv, Nadav; King, Bryan; Siepel,Adam; Salama, Sofie; Rubin, Edward M.; Kent, W. James; Haussler, David

    2005-11-27

    Hundreds of highly conserved distal cis-regulatory elementshave been characterized to date in vertebrate genomes1. Many thousandsmore are predicted based on comparative genomics2,3. Yet, in starkcontrast to the genes they regulate, virtually none of these regions canbe traced using sequence similarity in invertebrates, leaving theirevolutionary origin obscure. Here we show that a class of conserved,primarily non-coding regions in tetrapods originated from a novel shortinterspersed repetitive element (SINE) retroposon family that was activein Sarcopterygii (lobe-finned fishes and terrestrial vertebrates) in theSilurian at least 410 Mya4, and, remarkably, appears to be recentlyactive in the "living fossil" Indonesian coelacanth, Latimeriamenadoensis. We show that one copy is a distal enhancer, located 500kbfrom the neuro-developmental gene ISL1. Several others represent new,possibly regulatory, alternatively spliced exons in the middle ofpre-existing Sarcopterygian genes. One of these is the>200bpultraconserved region5, 100 percent identical in mammals, and 80 percentidentical to the coelacanth SINE, that contains a 31aa alternativelyspliced exon of the mRNA processing gene PCBP26. These add to a growinglist of examples7 in which relics of transposable elements have acquireda function that serves their host, a process termed "exaptation"8, andprovide an origin for at least some of the highly-conservedvertebrate-specific genomic sequences recently discovered usingcomparative genomics.

  12. Evolution of EF-hand calcium-modulated proteins. IV. Exon shuffling did not determine the domain compositions of EF-hand proteins

    Science.gov (United States)

    Kretsinger, R. H.; Nakayama, S.

    1993-01-01

    In the previous three reports in this series we demonstrated that the EF-hand family of proteins evolved by a complex pattern of gene duplication, transposition, and splicing. The dendrograms based on exon sequences are nearly identical to those based on protein sequences for troponin C, the essential light chain myosin, the regulatory light chain, and calpain. This validates both the computational methods and the dendrograms for these subfamilies. The proposal of congruence for calmodulin, troponin C, essential light chain, and regulatory light chain was confirmed. There are, however, significant differences in the calmodulin dendrograms computed from DNA and from protein sequences. In this study we find that introns are distributed throughout the EF-hand domain and the interdomain regions. Further, dendrograms based on intron type and distribution bear little resemblance to those based on protein or on DNA sequences. We conclude that introns are inserted, and probably deleted, with relatively high frequency. Further, in the EF-hand family exons do not correspond to structural domains and exon shuffling played little if any role in the evolution of this widely distributed homolog family. Calmodulin has had a turbulent evolution. Its dendrograms based on protein sequence, exon sequence, 3'-tail sequence, intron sequences, and intron positions all show significant differences.

  13. Functional importance of different patterns of correlation between adjacent cassette exons in human and mouse.

    Science.gov (United States)

    Peng, Tao; Xue, Chenghai; Bi, Jianning; Li, Tingting; Wang, Xiaowo; Zhang, Xuegong; Li, Yanda

    2008-04-26

    Alternative splicing expands transcriptome diversity and plays an important role in regulation of gene expression. Previous studies focus on the regulation of a single cassette exon, but recent experiments indicate that multiple cassette exons within a gene may interact with each other. This interaction can increase the potential to generate various transcripts and adds an extra layer of complexity to gene regulation. Several cases of exon interaction have been discovered. However, the extent to which the cassette exons coordinate with each other remains unknown. Based on EST data, we employed a metric of correlation coefficients to describe the interaction between two adjacent cassette exons and then categorized these exon pairs into three different groups by their interaction (correlation) patterns. Sequence analysis demonstrates that strongly-correlated groups are more conserved and contain a higher proportion of pairs with reading frame preservation in a combinatorial manner. Multiple genome comparison further indicates that different groups of correlated pairs have different evolutionary courses: (1) The vast majority of positively-correlated pairs are old, (2) most of the weakly-correlated pairs are relatively young, and (3) negatively-correlated pairs are a mixture of old and young events. We performed a large-scale analysis of interactions between adjacent cassette exons. Compared with weakly-correlated pairs, the strongly-correlated pairs, including both the positively and negatively correlated ones, show more evidence that they are under delicate splicing control and tend to be functionally important. Additionally, the positively-correlated pairs bear strong resemblance to constitutive exons, which suggests that they may evolve from ancient constitutive exons, while negatively and weakly correlated pairs are more likely to contain newly emerging exons.

  14. Delayed Gadolinium-Enhanced MRI of Cartilage (dGEMRIC): Intra- and Interobserver Variability in Standardized Drawing of Regions of Interest

    International Nuclear Information System (INIS)

    Tiderius, C.J.; Tjoernstrand, J.; Aakeson, P.; Soedersten, K.; Dahlberg, L.; Leander, P.

    2004-01-01

    Purpose: To establish the reproducibility of a standardized region of interest (ROI) drawing procedure in delayed gadolinium-enhanced magnetic resonance imaging (MRI) of cartilage (dGEMRIC). Material and Methods: A large ROI in lateral and medial femoral weight-bearing cartilage was drawn in images of 12 healthy male volunteers by 6 investigators with different skills in MRI. The procedure was done twice, with a 1-week interval. Calculated T1-values were evaluated for intra- and interobserver variability. Results: The mean interobserver variability for both compartments ranged between 1.3% and 2.3% for the 6 different investigators without correlation to their experience in MRI. Post-contrast intra-observer variability was low in both the lateral and the medial femoral cartilage, 2.6% and 1.5%, respectively. The larger variability in lateral than in medial cartilage was related to slightly longer and thinner ROIs. Conclusion: Intra-observer variability and interobserver variability are both low when a large standardized ROI is used in dGEMRIC. The experience of the investigator does not affect the variability, which further supports a clinical applicability of the method

  15. Molecular Characterization of the Llamas (Lama glama) Casein Cluster Genes Transcripts (CSN1S1, CSN2, CSN1S2, CSN3) and Regulatory Regions

    Science.gov (United States)

    Pauciullo, Alfredo; Erhardt, Georg

    2015-01-01

    In the present paper, we report for the first time the characterization of llama (Lama glama) caseins at transcriptomic and genetic level. A total of 288 casein clones transcripts were analysed from two lactating llamas. The most represented mRNA populations were those correctly assembled (85.07%) and they encoded for mature proteins of 215, 217, 187 and 162 amino acids respectively for the CSN1S1, CSN2, CSN1S2 and CSN3 genes. The exonic subdivision evidenced a structure made of 21, 9, 17 and 6 exons for the αs1-, β-, αs2- and κ-casein genes respectively. Exon skipping and duplication events were evidenced. Two variants A and B were identified in the αs1-casein gene as result of the alternative out-splicing of the exon 18. An additional exon coding for a novel esapeptide was found to be cryptic in the κ-casein gene, whereas one extra exon was found in the αs2-casein gene by the comparison with the Camelus dromedaries sequence. A total of 28 putative phosphorylated motifs highlighted a complex heterogeneity and a potential variable degree of post-translational modifications. Ninety-six polymorphic sites were found through the comparison of the lama casein cDNAs with the homologous camel sequences, whereas the first description and characterization of the 5’- and 3’-regulatory regions allowed to identify the main putative consensus sequences involved in the casein genes expression, thus opening the way to new investigations -so far- never achieved in this species. PMID:25923814

  16. Molecular Characterization of the Llamas (Lama glama) Casein Cluster Genes Transcripts (CSN1S1, CSN2, CSN1S2, CSN3) and Regulatory Regions.

    Science.gov (United States)

    Pauciullo, Alfredo; Erhardt, Georg

    2015-01-01

    In the present paper, we report for the first time the characterization of llama (Lama glama) caseins at transcriptomic and genetic level. A total of 288 casein clones transcripts were analysed from two lactating llamas. The most represented mRNA populations were those correctly assembled (85.07%) and they encoded for mature proteins of 215, 217, 187 and 162 amino acids respectively for the CSN1S1, CSN2, CSN1S2 and CSN3 genes. The exonic subdivision evidenced a structure made of 21, 9, 17 and 6 exons for the αs1-, β-, αs2- and κ-casein genes respectively. Exon skipping and duplication events were evidenced. Two variants A and B were identified in the αs1-casein gene as result of the alternative out-splicing of the exon 18. An additional exon coding for a novel esapeptide was found to be cryptic in the κ-casein gene, whereas one extra exon was found in the αs2-casein gene by the comparison with the Camelus dromedaries sequence. A total of 28 putative phosphorylated motifs highlighted a complex heterogeneity and a potential variable degree of post-translational modifications. Ninety-six polymorphic sites were found through the comparison of the lama casein cDNAs with the homologous camel sequences, whereas the first description and characterization of the 5'- and 3'-regulatory regions allowed to identify the main putative consensus sequences involved in the casein genes expression, thus opening the way to new investigations -so far- never achieved in this species.

  17. Exon variability of gene encoding glycerol-3-phosphate dehydrogenase of Ixodes ricinus ticks*

    Directory of Open Access Journals (Sweden)

    Radulović Ž.

    2010-12-01

    Full Text Available We have previously found apparent differences in Gpdh allele frequences between borrelia infected and uninfected Ixodes ricinus as revealed by native gel electrophoresis of allozyme polymorphisms. The present study deals with the genetic basis of the observed allozyme polymorphism. Multiple sequence alignment of 36 Gpdh open reading frames identified a total of 40 polymorphic nucleotide sites. Of the 40 polymorphic nucleotide sites, 34 were silent (did not result in amino acid residue change, while six were active causing a change in the amino acid chain. All polymorphic amino acid sites were situated within the N-terminal NAD-binding domain, whereas the C-terminal substrate-binding domain was highly conserved. Analysis of the obtained Gpdh sequences and GPDH allozyme polymorphisms for individual ticks pointed to amino acid changes at positions 61 (glycine-to-glutamic acid, 64 (serineto- cysteine and 102 (glycine-to-arginine as a key for differential mobility of GPDH allozymes in an electric field. Our findings are discussed in the context of the molecular basis of I. ricinus host finding behavior.

  18. Hospitalizations for ambulatory care sensitive conditions and quality of primary care: their relation with socioeconomic and health care variables in the Madrid regional health service (Spain).

    Science.gov (United States)

    Magán, Purificación; Alberquilla, Angel; Otero, Angel; Ribera, José Manuel

    2011-01-01

    Hospitalizations for ambulatory care sensitive conditions (ACSH) have been proposed as an indirect indicator of the effectiveness and quality of care provided by primary health care. To investigate the association of ACSH rates with population socioeconomic factors and with characteristics of primary health care. Cross-sectional, ecologic study. Using hospital discharge data, ACSH were selected from the list of conditions validated for Spain. All 34 health districts in the Region of Madrid, Spain. Individuals aged 65 years or older residing in the region of Madrid between 2001 and 2003, inclusive. Age- and gender-adjusted ACSH rates in each health district. The adjusted ACSH rate per 1000 population was 35.37 in men and 20.45 in women. In the Poisson regression analysis, an inverse relation was seen between ACSH rates and the socioeconomic variables. Physician workload was the only health care variable with a statistically significant relation (rate ratio of 1.066 [95% CI; 1.041-1.091]). These results were similar in the analyses disaggregated by gender. In the multivariate analyses that included health care variables, none of the health care variables were statistically significant. ACSH may be more closely related with socioeconomic variables than with characteristics of primary care activity. Therefore, other factors outside the health system must be considered to improve health outcomes in the population.

  19. Quantifying the effects of climate variability and human activities on runoff for Kaidu River Basin in arid region of northwest China

    Science.gov (United States)

    Chen, Zhongsheng; Chen, Yaning; Li, Baofu

    2013-02-01

    Much attention has recently been focused on the effects that climate variability and human activities have had on runoff. In this study, data from the Kaidu River Basin in the arid region of northwest China were analyzed to investigate changes in annual runoff during the period of 1960-2009. The nonparametric Mann-Kendall test and the Mann-Kendall-Sneyers test were used to identify trend and step change point in the annual runoff. It was found that the basin had a significant increasing trend in annual runoff. Step change point in annual runoff was identified in the basin, which occurred in the year around 1993 dividing the long-term runoff series into a natural period (1960-1993) and a human-induced period (1994-2009). Then, the hydrologic sensitivity analysis method was employed to evaluate the effects of climate variability and human activities on mean annual runoff for the human-induced period based on precipitation and potential evapotranspiration. In 1994-2009, climate variability was the main factor that increased runoff with contribution of 90.5 %, while the increasing percentage due to human activities only accounted for 9.5 %, showing that runoff in the Kaidu River Basin is more sensitive to climate variability than human activities. This study quantitatively distinguishes the effects between climate variability and human activities on runoff, which can do duty for a reference for regional water resources assessment and management.

  20. Using non-systematic surveys to investigate effects of regional climate variability on Australasian gannets in the Hauraki Gulf, New Zealand

    Science.gov (United States)

    Srinivasan, Mridula; Dassis, Mariela; Benn, Emily; Stockin, Karen A.; Martinez, Emmanuelle; Machovsky-Capuska, Gabriel E.

    2015-05-01

    Few studies have investigated regional and natural climate variability on seabird populations using ocean reanalysis datasets (e.g. Simple Ocean Data Assimilation (SODA)) that integrate atmospheric information to supplement ocean observations and provide improved estimates of ocean conditions. Herein we use a non-systematic dataset on Australasian gannets (Morus serrator) from 2001 to 2009 to identify potential connections between Gannet Sightings Per Unit Effort (GSPUE) and climate and oceanographic variability in a region of known importance for breeding seabirds, the Hauraki Gulf (HG), New Zealand. While no statistically significant relationships between GSPUE and global climate indices were determined, there was a significant correlation between GSPUE and regional SST anomaly for HG. Also, there appears to be a strong link between global climate indices and regional climate in the HG. Further, based on cross-correlation function coefficients and lagged multiple regression models, we identified potential leading and lagging climate variables, and climate variables but with limited predictive capacity in forecasting future GSPUE. Despite significant inter-annual variability and marginally cooler SSTs since 2001, gannet sightings appear to be increasing. We hypothesize that at present underlying physical changes in the marine ecosystem may be insufficient to affect supply of preferred gannet main prey (pilchard Sardinops spp.), which tolerate a wide thermal range. Our study showcases the potential scientific value of lengthy non-systematic data streams and when designed properly (i.e., contain abundance, flock size, and spatial data), can yield useful information in climate impact studies on seabirds and other marine fauna. Such information can be invaluable for enhancing conservation measures for protected species in fiscally constrained research environments.

  1. Intraseasonal variability in the far-east pacific: investigation of the role of air-sea coupling in a regional coupled model

    Energy Technology Data Exchange (ETDEWEB)

    Small, R.J. [Naval Research Laboratory, Jacobs Technology, Stennis Space Center, MS (United States); University of Hawaii, International Pacific Research Center, POST 401, Honolulu, HI (United States); Xie, Shang-Ping [University of Hawaii, International Pacific Research Center, POST 401, Honolulu, HI (United States); University of Hawaii, Department of Meteorology, School of Ocean and Earth Science and Technology, Honolulu, HI (United States); Maloney, Eric D. [Colorado State University, Department of Atmospheric Science, Fort Collins, CO (United States); Szoeke, Simon P. de [Oregon State University, College of Oceanic and Atmospheric Sciences, Corvallis, OR (United States); Miyama, Toru [Frontier Research for Global Change, Yokohama (Japan)

    2011-03-15

    Intraseasonal variability in the eastern Pacific warm pool in summer is studied, using a regional ocean-atmosphere model, a linear baroclinic model (LBM), and satellite observations. The atmospheric component of the model is forced by lateral boundary conditions from reanalysis data. The aim is to quantify the importance to atmospheric deep convection of local air-sea coupling. In particular, the effect of sea surface temperature (SST) anomalies on surface heat fluxes is examined. Intraseasonal (20-90 day) east Pacific warm-pool zonal wind and outgoing longwave radiation (OLR) variability in the regional coupled model are correlated at 0.8 and 0.6 with observations, respectively, significant at the 99% confidence level. The strength of the intraseasonal variability in the coupled model, as measured by the variance of outgoing longwave radiation, is close in magnitude to that observed, but with a maximum located about 10 further west. East Pacific warm pool intraseasonal convection and winds agree in phase with those from observations, suggesting that remote forcing at the boundaries associated with the Madden-Julian oscillation determines the phase of intraseasonal convection in the east Pacific warm pool. When the ocean model component is replaced by weekly reanalysis SST in an atmosphere-only experiment, there is a slight improvement in the location of the highest OLR variance. Further sensitivity experiments with the regional atmosphere-only model in which intraseasonal SST variability is removed indicate that convective variability has only a weak dependence on the SST variability, but a stronger dependence on the climatological mean SST distribution. A scaling analysis confirms that wind speed anomalies give a much larger contribution to the intraseasonal evaporation signal than SST anomalies, in both model and observations. A LBM is used to show that local feedbacks would serve to amplify intraseasonal convection and the large-scale circulation. Further

  2. Closing the sea level budget on a regional scale: Trends and variability on the Northwestern European continental shelf.

    Science.gov (United States)

    Frederikse, Thomas; Riva, Riccardo; Kleinherenbrink, Marcel; Wada, Yoshihide; van den Broeke, Michiel; Marzeion, Ben

    2016-10-28

    Long-term trends and decadal variability of sea level in the North Sea and along the Norwegian coast have been studied over the period 1958-2014. We model the spatially nonuniform sea level and solid earth response to large-scale ice melt and terrestrial water storage changes. GPS observations, corrected for the solid earth deformation, are used to estimate vertical land motion. We find a clear correlation between sea level in the North Sea and along the Norwegian coast and open ocean steric variability in the Bay of Biscay and west of Portugal, which is consistent with the presence of wind-driven coastally trapped waves. The observed nodal cycle is consistent with tidal equilibrium. We are able to explain the observed sea level trend over the period 1958-2014 well within the standard error of the sum of all contributing processes, as well as the large majority of the observed decadal sea level variability.

  3. FB elements can promote exon shuffling: a promoter-less white allele can be reactivated by FB mediated transposition in Drosophila melanogaster.

    Science.gov (United States)

    Moschetti, R; Marsano, R M; Barsanti, P; Caggese, C; Caizzi, R

    2004-05-01

    Foldback ( FB) elements are transposable elements found in many eukaryotic genomes; they are thought to contribute significantly to genome plasticity. In Drosophila melanogaster, FBs have been shown to be involved in the transposition of large chromosomal regions and in the genetic instability of some alleles of the white gene. In this report we show that FB mediated transposition of w(67C23), a mutation that deletes the promoter of the white gene and its first exon, containing the start codon, can restore expression of the white gene. We have characterized three independent events in which a 14-kb fragment from the w(67C23) locus was transposed into an intron region in three different genes. In each case a local promoter drives the expression of white, producing a chimeric mRNA. These findings suggest that, on an evolutionary timescale, FB elements may contribute to the creation of new genes via exon shuffling.

  4. Variability among the Most Rapidly Evolving Plastid Genomic Regions is Lineage-Specific: Implications of Pairwise Genome Comparisons in Pyrus (Rosaceae) and Other Angiosperms for Marker Choice

    Science.gov (United States)

    Ter-Voskanyan, Hasmik; Allgaier, Martin; Borsch, Thomas

    2014-01-01

    Plastid genomes exhibit different levels of variability in their sequences, depending on the respective kinds of genomic regions. Genes are usually more conserved while noncoding introns and spacers evolve at a faster pace. While a set of about thirty maximum variable noncoding genomic regions has been suggested to provide universally promising phylogenetic markers throughout angiosperms, applications often require several regions to be sequenced for many individuals. Our project aims to illuminate evolutionary relationships and species-limits in the genus Pyrus (Rosaceae)—a typical case with very low genetic distances between taxa. In this study, we have sequenced the plastid genome of Pyrus spinosa and aligned it to the already available P. pyrifolia sequence. The overall p-distance of the two Pyrus genomes was 0.00145. The intergenic spacers between ndhC–trnV, trnR–atpA, ndhF–rpl32, psbM–trnD, and trnQ–rps16 were the most variable regions, also comprising the highest total numbers of substitutions, indels and inversions (potentially informative characters). Our comparative analysis of further plastid genome pairs with similar low p-distances from Oenothera (representing another rosid), Olea (asterids) and Cymbidium (monocots) showed in each case a different ranking of genomic regions in terms of variability and potentially informative characters. Only two intergenic spacers (ndhF–rpl32 and trnK–rps16) were consistently found among the 30 top-ranked regions. We have mapped the occurrence of substitutions and microstructural mutations in the four genome pairs. High AT content in specific sequence elements seems to foster frequent mutations. We conclude that the variability among the fastest evolving plastid genomic regions is lineage-specific and thus cannot be precisely predicted across angiosperms. The often lineage-specific occurrence of stem-loop elements in the sequences of introns and spacers also governs lineage-specific mutations

  5. Variability among the most rapidly evolving plastid genomic regions is lineage-specific: implications of pairwise genome comparisons in Pyrus (Rosaceae and other angiosperms for marker choice.

    Directory of Open Access Journals (Sweden)

    Nadja Korotkova

    Full Text Available Plastid genomes exhibit different levels of variability in their sequences, depending on the respective kinds of genomic regions. Genes are usually more conserved while noncoding introns and spacers evolve at a faster pace. While a set of about thirty maximum variable noncoding genomic regions has been suggested to provide universally promising phylogenetic markers throughout angiosperms, applications often require several regions to be sequenced for many individuals. Our project aims to illuminate evolutionary relationships and species-limits in the genus Pyrus (Rosaceae-a typical case with very low genetic distances between taxa. In this study, we have sequenced the plastid genome of Pyrus spinosa and aligned it to the already available P. pyrifolia sequence. The overall p-distance of the two Pyrus genomes was 0.00145. The intergenic spacers between ndhC-trnV, trnR-atpA, ndhF-rpl32, psbM-trnD, and trnQ-rps16 were the most variable regions, also comprising the highest total numbers of substitutions, indels and inversions (potentially informative characters. Our comparative analysis of further plastid genome pairs with similar low p-distances from Oenothera (representing another rosid, Olea (asterids and Cymbidium (monocots showed in each case a different ranking of genomic regions in terms of variability and potentially informative characters. Only two intergenic spacers (ndhF-rpl32 and trnK-rps16 were consistently found among the 30 top-ranked regions. We have mapped the occurrence of substitutions and microstructural mutations in the four genome pairs. High AT content in specific sequence elements seems to foster frequent mutations. We conclude that the variability among the fastest evolving plastid genomic regions is lineage-specific and thus cannot be precisely predicted across angiosperms. The often lineage-specific occurrence of stem-loop elements in the sequences of introns and spacers also governs lineage-specific mutations. Sequencing

  6. Single base mutation in the proα2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame proα2(I) chain

    International Nuclear Information System (INIS)

    Tromp, G.; Prockop, D.J.

    1988-01-01

    Previous observations demonstrated that a lethal variant of osteogenesis imperfecta had two altered alleles for proα2(I) chains of type I procollagen. One mutation produced a nonfunctioning allele in that there was synthesis of mRNA but no detectable synthesis of proα2(I) chains from the allele. The mutation in the other allele caused synthesis of shortened proα2(I) chains that lacked most or all of the 18 amino acids encoded by exon 28. Subclones of the proα2(I) gene were prepared from the proband's DNA and the DNA sequence was determined for a 582-base-pair (bp) region that extended from the last 30 bp of intervening sequence 26 to the first 26 bp of intervening sequence 29. Data from six independent subclones demonstrated that all had the same sequence as a previously isolated normal clone for the proα2(I) gene except that four subclones had a single base mutation at the 3' end of intervening sequence 27. The mutation was a substitution of guanine for adenine that changed the universal consensus sequence for the 3' splicing site of RNA from -AG- to -GG-. S1 nuclease experiments demonstrated that about half the proα2(I) mRNA in the proband's fibroblasts was abnormally spliced and that the major species of abnormal proα2(I) mRNA was completely spliced from the last codon of exon 27 to the first codon of exon 29. The mutation is apparently unique among RNA splicing mutations of mammalian systems in producing a shortened polypeptide chain that is in-frame in terms of coding sequences, that is used in the subunit assembly of a protein, and that contributes to a lethal phenotype

  7. Functional understanding of the diverse exon-intron structures of human GPCR genes.

    Science.gov (United States)

    Hammond, Dorothy A; Olman, Victor; Xu, Ying

    2014-02-01

    The GPCR genes have a variety of exon-intron structures even though their proteins are all structurally homologous. We have examined all human GPCR genes with at least two functional protein isoforms, totaling 199, aiming to gain an understanding of what may have contributed to the large diversity of the exon-intron structures of the GPCR genes. The 199 genes have a total of 808 known protein splicing isoforms with experimentally verified functions. Our analysis reveals that 1301 (80.6%) adjacent exon-exon pairs out of the total of 1,613 in the 199 genes have either exactly one exon skipped or the intron in-between retained in at least one of the 808 protein splicing isoforms. This observation has a statistical significance p-value of 2.051762 * e(-09), assuming that the observed splicing isoforms are independent of the exon-intron structures. Our interpretation of this observation is that the exon boundaries of the GPCR genes are not randomly determined; instead they may be selected to facilitate specific alternative splicing for functional purposes.

  8. Quantitative Antisense Screening and Optimization for Exon 51 Skipping in Duchenne Muscular Dystrophy.

    Science.gov (United States)

    Echigoya, Yusuke; Lim, Kenji Rowel Q; Trieu, Nhu; Bao, Bo; Miskew Nichols, Bailey; Vila, Maria Candida; Novak, James S; Hara, Yuko; Lee, Joshua; Touznik, Aleksander; Mamchaoui, Kamel; Aoki, Yoshitsugu; Takeda, Shin'ichi; Nagaraju, Kanneboyina; Mouly, Vincent; Maruyama, Rika; Duddy, William; Yokota, Toshifumi

    2017-11-01

    Duchenne muscular dystrophy (DMD), the most common lethal genetic disorder, is caused by mutations in the dystrophin (DMD) gene. Exon skipping is a therapeutic approach that uses antisense oligonucleotides (AOs) to modulate splicing and restore the reading frame, leading to truncated, yet functional protein expression. In 2016, the US Food and Drug Administration (FDA) conditionally approved the first phosphorodiamidate morpholino oligomer (morpholino)-based AO drug, eteplirsen, developed for DMD exon 51 skipping. Eteplirsen remains controversial with insufficient evidence of its therapeutic effect in patients. We recently developed an in silico tool to design antisense morpholino sequences for exon skipping. Here, we designed morpholino AOs targeting DMD exon 51 using the in silico tool and quantitatively evaluated the effects in immortalized DMD muscle cells in vitro. To our surprise, most of the newly designed morpholinos induced exon 51 skipping more efficiently compared with the eteplirsen sequence. The efficacy of exon 51 skipping and rescue of dystrophin protein expression were increased by up to more than 12-fold and 7-fold, respectively, compared with the eteplirsen sequence. Significant in vivo efficacy of the most effective morpholino, determined in vitro, was confirmed in mice carrying the human DMD gene. These findings underscore the importance of AO sequence optimization for exon skipping. Copyright © 2017 The American Society of Gene and Cell Therapy. Published by Elsevier Inc. All rights reserved.

  9. Clinical and molecular consequences of exon 78 deletion in DMD gene.

    Science.gov (United States)

    Traverso, Monica; Assereto, Stefania; Baratto, Serena; Iacomino, Michele; Pedemonte, Marina; Diana, Maria Cristina; Ferretti, Marta; Broda, Paolo; Minetti, Carlo; Gazzerro, Elisabetta; Madia, Francesca; Bruno, Claudio; Zara, Federico; Fiorillo, Chiara

    2018-03-19

    We present a 13-year-old patient with persistent increase of serum Creatine Kinase (CK) and myalgia after exertion. Skeletal muscle biopsy showed marked reduction of dystrophin expression leading to genetic analysis of DMD gene by MLPA, which detected a single deletion of exon 78. To the best of our knowledge, DMD exon 78 deletion has never been described in literature and, according to prediction, it should lead to loss of reading frame in the dystrophin gene. To further assess the actual effect of exon 78 deletion, we analysed cDNA from muscle mRNA. This analysis confirmed the absence of 32 bp of exon 78. Exclusion of exon 78 changes the open reading frame of exon 79 and generate a downstream stop codon, producing a dystrophin protein of 3703 amino acids instead of 3685 amino acids. Albeit loss of reading frame usually leads to protein degradation and severe phenotype, in this case, we demonstrated that deletion of DMD exon 78 can be associated with a functional protein able to bind DGC complex and a very mild phenotype. This study adds a novel deletion in DMD gene in human and helps to define the compliance between maintaining/disrupting the reading frame and clinical form of the disease.

  10. Antisense Oligonucleotide-mediated Exon Skipping as a Systemic Therapeutic Approach for Recessive Dystrophic Epidermolysis Bullosa.

    Science.gov (United States)

    Bremer, Jeroen; Bornert, Olivier; Nyström, Alexander; Gostynski, Antoni; Jonkman, Marcel F; Aartsma-Rus, Annemieke; van den Akker, Peter C; Pasmooij, Anna Mg

    2016-10-18

    The "generalized severe" form of recessive dystrophic epidermolysis bullosa (RDEB-gen sev) is caused by bi-allelic null mutations in COL7A1, encoding type VII collagen. The absence of type VII collagen leads to blistering of the skin and mucous membranes upon the slightest trauma. Because most patients carry exonic point mutations or small insertions/deletions, most exons of COL7A1 are in-frame, and low levels of type VII collagen already drastically improve the disease phenotype, this gene seems a perfect candidate for antisense oligonucleotide (AON)-mediated exon skipping. In this study, we examined the feasibility of AON-mediated exon skipping in vitro in primary cultured keratinocytes and fibroblasts, and systemically in vivo using a human skin-graft mouse model. We show that treatment with AONs designed against exon 105 leads to in-frame exon 105 skipping at the RNA level and restores type VII collagen protein production in vitro. Moreover, we demonstrate that systemic delivery in vivo induces de novo expression of type VII collagen in skin grafts generated from patient cells. Our data demonstrate strong proof-of-concept for AON-mediated exon skipping as a systemic therapeutic strategy for RDEB.

  11. Daily temperature changes and variability in ENSEMBLES regional models predictions: Evaluation and intercomparison for the Ebro Valley (NE Iberia)

    KAUST Repository

    El Kenawy, Ahmed M.; Ló pez-Moreno, Juan Ignacio; McCabe, Matthew; Brunsell, Nathaniel A.; Vicente-Serrano, Sergio M.

    2014-01-01

    We employ a suite of regional climate models (RCMs) to assess future changes in summer (JJA) maximum temperature (Tmax) over the Ebro basin, the largest hydrological division in the Iberian Peninsula. Under the A1B emission scenario, future changes

  12. Tracking the evolution of alternatively spliced exons within the Dscam family

    Directory of Open Access Journals (Sweden)

    Vision Todd J

    2006-02-01

    Full Text Available Abstract Background The Dscam gene in the fruit fly, Drosophila melanogaster, contains twenty-four exons, four of which are composed of tandem arrays that each undergo mutually exclusive alternative splicing (4, 6, 9 and 17, potentially generating 38,016 protein isoforms. This degree of transcript diversity has not been found in mammalian homologs of Dscam. We examined the molecular evolution of exons within this gene family to locate the point of divergence for this alternative splicing pattern. Results Using the fruit fly Dscam exons 4, 6, 9 and 17 as seed sequences, we iteratively searched sixteen genomes for homologs, and then performed phylogenetic analyses of the resulting sequences to examine their evolutionary history. We found homologs in the nematode, arthropod and vertebrate genomes, including homologs in several vertebrates where Dscam had not been previously annotated. Among these, only the arthropods contain homologs arranged in tandem arrays indicative of mutually exclusive splicing. We found no homologs to these exons within the Arabidopsis, yeast, tunicate or sea urchin genomes but homologs to several constitutive exons from fly Dscam were present within tunicate and sea urchin. Comparing the rate of turnover within the tandem arrays of the insect taxa (fruit fly, mosquito and honeybee, we found the variants within exons 4 and 17 are well conserved in number and spatial arrangement despite 248–283 million years of divergence. In contrast, the variants within exons 6 and 9 have undergone considerable turnover since these taxa diverged, as indicated by deeply branching taxon-specific lineages. Conclusion Our results suggest that at least one Dscam exon array may be an ancient duplication that predates the divergence of deuterostomes from protostomes but that there is no evidence for the presence of arrays in the common ancestor of vertebrates. The different patterns of conservation and turnover among the Dscam exon arrays

  13. Changes in exon–intron structure during vertebrate evolution affect the splicing pattern of exons

    Science.gov (United States)

    Gelfman, Sahar; Burstein, David; Penn, Osnat; Savchenko, Anna; Amit, Maayan; Schwartz, Schraga; Pupko, Tal; Ast, Gil

    2012-01-01

    Exon–intron architecture is one of the major features directing the splicing machinery to the short exons that are located within long flanking introns. However, the evolutionary dynamics of exon–intron architecture and its impact on splicing is largely unknown. Using a comparative genomic approach, we analyzed 17 vertebrate genomes and reconstructed the ancestral motifs of both 3′ and 5′ splice sites, as also the ancestral length of exons and introns. Our analyses suggest that vertebrate introns increased in length from the shortest ancestral introns to the longest primate introns. An evolutionary analysis of splice sites revealed that weak splice sites act as a restrictive force keeping introns short. In contrast, strong splice sites allow recognition of exons flanked by long introns. Reconstruction of the ancestral state suggests these phenomena were not prevalent in the vertebrate ancestor, but appeared during vertebrate evolution. By calculating evolutionary rate shifts in exons, we identified cis-acting regulatory sequences that became fixed during the transition from early vertebrates to mammals. Experimental validations performed on a selection of these hexamers confirmed their regulatory function. We additionally revealed many features of exons that can discriminate alternative from constitutive exons. These features were integrated into a machine-learning approach to predict whether an exon is alternative. Our algorithm obtains very high predictive power (AUC of 0.91), and using these predictions we have identified and successfully validated novel alternatively spliced exons. Overall, we provide novel insights regarding the evolutionary constraints acting upon exons and their recognition by the splicing machinery. PMID:21974994

  14. Complex exon-intron marking by histone modifications is not determined solely by nucleosome distribution.

    Directory of Open Access Journals (Sweden)

    Pawandeep Dhami

    2010-08-01

    Full Text Available It has recently been shown that nucleosome distribution, histone modifications and RNA polymerase II (Pol II occupancy show preferential association with exons ("exon-intron marking", linking chromatin structure and function to co-transcriptional splicing in a variety of eukaryotes. Previous ChIP-sequencing studies suggested that these marking patterns reflect the nucleosomal landscape. By analyzing ChIP-chip datasets across the human genome in three cell types, we have found that this marking system is far more complex than previously observed. We show here that a range of histone modifications and Pol II are preferentially associated with exons. However, there is noticeable cell-type specificity in the degree of exon marking by histone modifications and, surprisingly, this is also reflected in some histone modifications patterns showing biases towards introns. Exon-intron marking is laid down in the absence of transcription on silent genes, with some marking biases changing or becoming reversed for genes expressed at different levels. Furthermore, the relationship of this marking system with splicing is not simple, with only some histone modifications reflecting exon usage/inclusion, while others mirror patterns of exon exclusion. By examining nucleosomal distributions in all three cell types, we demonstrate that these histone modification patterns cannot solely be accounted for by differences in nucleosome levels between exons and introns. In addition, because of inherent differences between ChIP-chip array and ChIP-sequencing approaches, these platforms report different nucleosome distribution patterns across the human genome. Our findings confound existing views and point to active cellular mechanisms which dynamically regulate histone modification levels and account for exon-intron marking. We believe that these histone modification patterns provide links between chromatin accessibility, Pol II movement and co-transcriptional splicing.

  15. Effect of weather data aggregation on regional crop simulation for different crops, production conditions, and response variables

    NARCIS (Netherlands)

    Zhao, Gang; Hoffmann, Holger; Bussel, Van L.G.J.; Enders, Andreas; Specka, Xenia; Sosa, Carmen; Yeluripati, Jagadeesh; Tao, Fulu; Constantin, Julie; Raynal, Helene; Teixeira, Edmar; Grosz, Balázs; Doro, Luca; Zhao, Zhigan; Nendel, Claas; Kiese, Ralf; Eckersten, Henrik; Haas, Edwin; Vanuytrecht, Eline; Wang, Enli; Kuhnert, Matthias; Trombi, Giacomo; Moriondo, Marco; Bindi, Marco; Lewan, Elisabet; Bach, Michaela; Kersebaum, Kurt Christian; Rötter, Reimund; Roggero, Pier Paolo; Wallach, Daniel; Cammarano, Davide; Asseng, Senthold; Krauss, Gunther; Siebert, Stefan

    2015-01-01

    We assessed the weather data aggregation effect (DAE) on the simulation of cropping systems for different crops, response variables, and production conditions. Using 13 processbased crop models and the ensemble mean, we simulated 30 yr continuous cropping systems for 2 crops (winter wheat and

  16. Regional and hemispheric influences on temporal variability in baseline carbon monoxide and ozone over the Northeast US

    Science.gov (United States)

    Interannual variability in baseline carbon monoxide (CO) and ozone (O3), defined as mixing ratios under minimal influence of recent and local emissions, was studied for seven rural sites in the Northeast US over 2001–2010. Annual baseline CO exhibited statistically signific...

  17. Spatio-temporal variability in accretion and erosion of coastal foredunes in the Netherlands: regional climate and local topography.

    Science.gov (United States)

    Keijsers, Joep G S; Poortinga, Ate; Riksen, Michel J P M; Maroulis, Jerry

    2014-01-01

    Depending on the amount of aeolian sediment input and dune erosion, dune size and morphology change over time. Since coastal foredunes play an important role in the Dutch coastal defence, it is important to have good insight in the main factors that control these changes. In this paper the temporal variations in foredune erosion and accretion were studied in relation to proxies for aeolian transport potential and storminess using yearly elevation measurements from 1965 to 2012 for six sections of the Dutch coast. Longshore differences in the relative impacts of erosion and accretion were examined in relation to local beach width. The results show that temporal variability in foredune accretion and erosion is highest in narrow beach sections. Here, dune erosion alternates with accretion, with variability displaying strong correlations with yearly values of storminess (maximum sea levels). In wider beach sections, dune erosion is less frequent, with lower temporal variability and stronger correlations with time series of transport potential. In erosion dominated years, eroded volumes decrease from narrow to wider beaches. When accretion dominates, dune-volume changes are relatively constant alongshore. Dune erosion is therefore suggested to control spatial variability in dune-volume changes. On a scale of decades, the volume of foredunes tends to increase more on wider beaches. However, where widths exceed 200 to 300 m, this trend is no longer observed.

  18. The proximal first exon architecture of the murine ghrelin gene is highly similar to its human orthologue

    Directory of Open Access Journals (Sweden)

    Seim Inge

    2009-05-01

    Full Text Available Abstract Background The murine ghrelin gene (Ghrl, originally sequenced from stomach tissue, contains five exons and a single transcription start site in a short, 19 bp first exon (exon 0. We recently isolated several novel first exons of the human ghrelin gene and found evidence of a complex transcriptional repertoire. In this report, we examined the 5' exons of the murine ghrelin orthologue in a range of tissues using 5' RACE. Findings 5' RACE revealed two transcription start sites (TSSs in exon 0 and four TSSs in intron 0, which correspond to 5' extensions of exon 1. Using quantitative, real-time RT-PCR (qRT-PCR, we demonstrated that extended exon 1 containing Ghrl transcripts are largely confined to the spleen, adrenal gland, stomach, and skin. Conclusion We demonstrate that multiple transcription start sites are present in exon 0 and an extended exon 1 of the murine ghrelin gene, similar to the proximal first exon organisation of its human orthologue. The identification of several transcription start sites in intron 0 of mouse ghrelin (resulting in an extension of exon 1 raises the possibility that developmental-, cell- and tissue-specific Ghrl mRNA species are created by employing alternative promoters and further studies of the murine ghrelin gene are warranted.