Complex interaction between proliferative kidney disease, water temperature and concurrent nematode infection in brown trout.

Science.gov (United States)

Schmidt-Posthaus, Heike; Steiner, Pascale; Müller, Barbara; Casanova-Nakayama, Ayako

2013-04-29

Proliferative kidney disease (PKD) is a temperature-dependent disease caused by the myxozoan Tetracapsuloides bryosalmonae. It is an emerging threat to wild brown trout Salmo trutta fario populations in Switzerland. Here we examined (1) how PKD prevalence and pathology in young-of-the-year (YOY) brown trout relate to water temperature, (2) whether wild brown trout can completely recover from T. bryosalmonae-induced renal lesions and eliminate T. bryosalmonae over the winter months, and (3) whether this rate and/or extent of the recovery is influenced by concurrent infection. A longitudinal field study on a wild brown trout cohort was conducted over 16 mo. YOY and age 1+ fish were sampled from 7 different field sites with various temperature regimes, and monitored for infection with T. bryosalmonae and the nematode Raphidascaris acus. T. bryosamonae was detectable in brown trout YOY from all sampling sites, with similar renal pathology, independent of water temperature. During winter months, recovery was mainly influenced by the presence or absence of concurrent infection with R. acus larvae. While brown trout without R. acus regenerated completely, concurrently infected brown trout showed incomplete recovery, with chronic renal lesions and incomplete translocation of T. bryosalmonae from the renal interstitium into the tubular lumen. Water temperature seemed to influence complete excretion of T. bryosalmonae, with spores remaining in trout from summer-warm rivers, but absent in trout from summer-cool rivers. In the following summer months, we found PKD infections in 1+ brown trout from all investigated river sites. The pathological lesions indicated a re-infection rather than a proliferation of remaining T. bryosalmonae. However, disease prevalence in 1+ trout was lower than in YOY.

Heart defects and other features of the 22q11 distal deletion syndrome

DEFF Research Database (Denmark)

Fagerberg, Christina Ringmann; Graakjaer, Jesper; Heinl, Ulrike D

2013-01-01

patients with 22q11 distal deletions, of whom two have complex congenital heart malformation, thus broadening the phenotypic spectrum. We compare cardiac malformations reported in 22q11 distal deletion to those reported in the common 22q11 deletion syndrome. We also review the literature for patients...... with 22q11 distal deletions, and discuss the possible roles of haploinsufficiency of the MAPK1 gene. We find the most frequent features in 22q11 distal deletion to be developmental delay or learning disability, short stature, microcephalus, premature birth with low birth weight, and congenital heart...... malformation ranging from minor anomalies to complex malformations. Behavioral problems are also seen in a substantial portion of patients. The following dysmorphic features are relatively common: smooth philtrum, abnormally structured ears, cleft palate/bifid uvula, micro-/retrognathia, upslanting palpebral...

Investigation of metal ions sorption of brown peat moss powder

Science.gov (United States)

Kelus, Nadezhda; Blokhina, Elena; Novikov, Dmitry; Novikova, Yaroslavna; Chuchalin, Vladimir

2017-11-01

For regularities research of sorptive extraction of heavy metal ions by cellulose and its derivates from aquatic solution of electrolytes it is necessary to find possible mechanism of sorption process and to choice a model describing this process. The present article investigates the regularities of aliovalent metals sorption on brown peat moss powder. The results show that sorption isotherm of Al3+ ions is described by Freundlich isotherm and sorption isotherms of Na+ i Ni2+ are described by Langmuir isotherm. To identify the mechanisms of brown peat moss powder sorption the IR-spectra of the initial brown peat moss powder samples and brown peat moss powder samples after Ni (II) sorption were studied. Metal ion binding mechanisms by brown peat moss powder points to ion exchange, physical adsorption, and complex formation with hydroxyl and carboxyl groups.

Sustained Brown Fat Stimulation and Insulin Sensitization by a Humanized Bispecific Antibody Agonist for Fibroblast Growth Factor Receptor 1/βKlotho Complex

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Ganesh Kolumam

2015-07-01

Full Text Available Dissipating excess calories as heat through therapeutic stimulation of brown adipose tissues (BAT has been proposed as a potential treatment for obesity-linked disorders. Here, we describe the generation of a humanized effector-less bispecific antibody that activates fibroblast growth factor receptor (FGFR 1/βKlotho complex, a common receptor for FGF21 and FGF19. Using this molecule, we show that antibody-mediated activation of FGFR1/βKlotho complex in mice induces sustained energy expenditure in BAT, browning of white adipose tissue, weight loss, and improvements in obesity-associated metabolic derangements including insulin resistance, hyperglycemia, dyslipidemia and hepatosteatosis. In mice and cynomolgus monkeys, FGFR1/βKlotho activation increased serum high-molecular-weight adiponectin, which appears to contribute over time by enhancing the amplitude of the metabolic benefits. At the same time, insulin sensitization by FGFR1/βKlotho activation occurs even before the onset of weight loss in a manner that is independent of adiponectin. Together, selective activation of FGFR1/βKlotho complex with a long acting therapeutic antibody represents an attractive approach for the treatment of type 2 diabetes and other obesity-linked disorders through enhanced energy expenditure, insulin sensitization and induction of high-molecular-weight adiponectin.

Norrie disease as part of a complex syndrome explained by a submicroscopic deletion of the X chromosome.

Science.gov (United States)

Bleeker-Wagemakers, E M; Zweije-Hofman, I; Gal, A

1988-11-01

A 15-year-old male patient with the typical ocular symptoms of Norrie disease is described. Additionally, he presents severe mental retardation, growth disturbances, hypogonadism, and increased susceptibility to infections. This complex syndrome is apparently segregating through three generations: four other male relatives of the patient were blind from birth and died from recurrent infections between the ages of three to 15 months. The DNA sequence of the DXS7 locus (L1.28 probe), known to be closely linked to the Norrie gene, was not found in the patient's DNA. This result suggests that the more complex clinical picture seen is the result of a deletion of the X chromosome spanning DXS7, the Norrie gene, and several neighbouring loci. A detailed clinical description of the patient is given and compared to that of similar cases.

Brown Fat and Browning for the Treatment of Obesity and Related Metabolic Disorders

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So Hun Kim

2016-01-01

Full Text Available Brown fat is a specialized fat depot that can increase energy expenditure and produce heat. After the recent discovery of the presence of active brown fat in human adults and novel transcription factors controlling brown adipocyte differentiation, the field of the study of brown fat has gained great interest and is rapidly growing. Brown fat expansion and/or activation results in increased energy expenditure and a negative energy balance in mice and limits weight gain. Brown fat is also able to utilize blood glucose and lipid and results in improved glucose metabolism and blood lipid independent of weight loss. Prolonged cold exposure and beta adrenergic agonists can induce browning of white adipose tissue. The inducible brown adipocyte, beige adipocyte evolving by thermogenic activation of white adipose tissue have different origin and molecular signature from classical brown adipocytes but share the characteristics of high mitochondria content, UCP1 expression and thermogenic capacity when activated. Increasing browning may also be an efficient way to increase whole brown fat activity. Recent human studies have shown possibilities that findings in mice can be reproduced in human, making brown fat a good candidate organ to treat obesity and its related disorders.

The physiological basis of the migration continuum in brown trout ( Salmo trutta)

DEFF Research Database (Denmark)

Boel, Mikkel; Aarestrup, Kim; Baktoft, Henrik

2014-01-01

Partial migration is common in many animal taxa; however, the physiological variation underpinning migration strategies remains poorly understood. Among salmonid fishes, brown trout (Salmo trutta) is one of the species that exhibits the most complex variation in sympatric migration strategies......, expressed as a migration continuum, ranging from residency to anadromy. In looking at brown trout, our objective with this study was to test the hypothesis that variation in migration strategies is underpinned by physiological variation. Prior to migration, physiological samples were taken from fish...... in brown trout....

Polarisation of major histocompatibility complex II host genotype with pathogenesis of European Brown Hare syndrome virus.

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Christos Iacovakis

Full Text Available A study was conducted in order to determine the occurrence of European Brown Hare Syndrome virus (EBHSV in Denmark and possible relation between disease pathogenesis and Major Histocompatibility Complex (MHC host genotype. Liver samples were examined from 170 brown hares (hunted, found sick or dead, collected between 2004 and 2009. Macroscopical and histopathological findings consistent with EBHS were detected in 24 (14.1% hares; 35 (20.6% had liver lesions not typical of the syndrome, 50 (29.4% had lesions in other tissues and 61 (35.9% had no lesions. Sixty five (38.2% of 170 samples were found to be EBHSV-positive (RT-PCR, VP60 gene. In order to investigate associations between viral pathogenesis and host genotype, variation within the exon 2 DQA gene of MHC was assessed. DQA exon 2 analysis revealed the occurrence of seven different alleles in Denmark. Consistent with other populations examined so far in Europe, observed heterozygosity of DQA (H o = 0.1180 was lower than expected (H e = 0.5835. The overall variation for both nucleotide and amino acid differences (2.9% and 14.9%, respectively were lower in Denmark than those assessed in other European countries (8.3% and 16.9%, respectively. Within the peptide binding region codons the number of nonsynonymous substitutions (dN was much higher than synonymous substitutions (dS, which would be expected for MHC alleles under balancing selection. Allele frequencies did not significantly differ between EBHSV-positive and -negative hares. However, allele Leeu-DQA*30 was detected in significantly higher (P = 0.000006 frequency among the positive hares found dead with severe histopathological lesions than among those found sick or apparently healthy. In contrast, the latter group was characterized by a higher frequency of the allele Leeu-DQA*14 as well as the proportion of heterozygous individuals (P = 0.000006 and P = 0.027. These data reveal a polarisation between EBHSV

Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.

Science.gov (United States)

Boutry-Kryza, Nadia; Ville, Dorothée; Labalme, Audrey; Calender, Alain; Dupont, Jean-Michel; Touraine, Renaud; Edery, Patrick; des Portes, Vincent; Sanlaville, Damien; Lesca, Gaetan

2014-08-01

Mutations of the CDKL5 gene cause early epileptic encephalopathy. Patients manifest refractory epilepsy, beginning before the age of 3 months, which is associated with severe psychomotor delay and features that overlap with Rett syndrome. We report here a patient with mosaicism for CDKL5 exonic deletion, with the presence of two mutant alleles. The affected 4-year-old girl presented with infantile spasms, beginning at the age of 9 months, but subsequent progression of the disease was consistent with the classical CDKL5-related phenotype. A deletion of exons 17 and 18 was suspected on the basis of Multiplex Ligation Probe Amplification analysis, but unexpected results for cDNA analysis, which showed the presence of an abnormal transcript with the deletion of exon 18 only, led us to suspect that two distinct events might have occurred. We used custom array-CGH to determine the size and breakpoints of these deletions. Exon 18 was deleted from one of the abnormal alleles, and exon 17 was deleted from the other. A Fork Stalling and Template Switching (FoSTeS) mechanism was proposed to explain the two events, given the presence of regions of microhomology at the breakpoints. We propose here an original involvement of the FoSTeS mechanism to explain the co-occurrence of these two events in the CDKL5 gene in a single patient. This patient highlights the difficulties involved in the detection of such abnormalities, particularly when they occur in a mosaic state and involve two distinct mutational events in a single gene. © 2014 Wiley Periodicals, Inc.

Gene expression patterns of chicken neuregulin 3 in association with copy number variation and frameshift deletion.

Science.gov (United States)

Abe, Hideaki; Aoya, Daiki; Takeuchi, Hiro-Aki; Inoue-Murayama, Miho

2017-07-21

Neuregulin 3 (NRG3) plays a key role in central nervous system development and is a strong candidate for human mental disorders. Thus, genetic variation in NRG3 may have some impact on a variety of phenotypes in non-mammalian vertebrates. Recently, genome-wide screening for short insertions and deletions in chicken (Gallus gallus) genomes has provided useful information about structural variation in functionally important genes. NRG3 is one such gene that has a putative frameshift deletion in exon 2, resulting in premature termination of translation. Our aims were to characterize the structure of chicken NRG3 and to compare expression patterns between NRG3 isoforms. Depending on the presence or absence of the 2-bp deletion in chicken NRG3, 3 breeds (red junglefowl [RJF], Boris Brown [BB], and Hinai-jidori [HJ]) were genotyped using flanking primers. In the commercial breeds (BB and HJ), approximately 45% of individuals had at least one exon 2 allele with the 2-bp deletion, whereas there was no deletion allele in RJF. The lack of a homozygous mutant indicated the existence of duplicated NRG3 segments in the chicken genome. Indeed, highly conserved elements consisting of exon 1, intron 1, exon 2, and part of intron 2 were found in the reference RJF genome, and quantitative PCR detected copy number variation (CNV) between breeds as well as between individuals. The copy number of conserved elements was significantly higher in chicks harboring the 2-bp deletion in exon 2. We identified 7 novel transcript variants using total mRNA isolated from the amygdala. Novel isoforms were found to lack the exon 2 cassette, which probably harbored the premature termination codon. The relative transcription levels of the newly identified isoforms were almost the same between chick groups with and without the 2-bp deletion, while chicks with the deletion showed significant suppression of the expression of previously reported isoforms. A putative frameshift deletion and CNV in chicken

Global IP6K1 deletion enhances temperature modulated energy expenditure which reduces carbohydrate and fat induced weight gain

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Qingzhang Zhu

2017-01-01

Full Text Available Objective: IP6 kinases (IP6Ks regulate cell metabolism and survival. Mice with global (IP6K1-KO or adipocyte-specific (AdKO deletion of IP6K1 are protected from diet induced obesity (DIO at ambient (23 °C temperature. AdKO mice are lean primarily due to increased AMPK mediated thermogenic energy expenditure (EE. Thus, at thermoneutral (30 °C temperature, high fat diet (HFD-fed AdKO mice expend energy and gain body weight, similar to control mice. IP6K1 is ubiquitously expressed; thus, it is critical to determine to what extent the lean phenotype of global IP6K1-KO mice depends on environmental temperature. Furthermore, it is not known whether IP6K1 regulates AMPK mediated EE in cells, which do not express UCP1. Methods: Q-NMR, GTT, food intake, EE, QRT-PCR, histology, mitochondrial oxygen consumption rate (OCR, fatty acid metabolism assays, and immunoblot studies were conducted in IP6K1-KO and WT mice or cells. Results: Global IP6K1 deletion mediated enhancement in EE is impaired albeit not abolished at 30 °C. As a result, IP6K1-KO mice are protected from DIO, insulin resistance, and fatty liver even at 30 °C. Like AdKO, IP6K1-KO mice display enhanced adipose tissue browning. However, unlike AdKO mice, thermoneutrality only partly abolishes browning in IP6K1-KO mice. Cold (5 °C exposure enhances carbohydrate expenditure, whereas 23 °C and 30 °C promote fat oxidation in HFD-KO mice. Furthermore, IP6K1 deletion diminishes cellular fat accumulation via activation of the AMPK signaling pathway. Conclusions: Global deletion of IP6K1 ameliorates obesity and insulin resistance irrespective of the environmental temperature conditions, which strengthens its validity as an anti-obesity target. Keywords: IP6K, Obesity, Diabetes, Energy expenditure, β-oxidation

Construction of a psb C deletion strain in Synechocystis 6803.

Science.gov (United States)

Goldfarb, N; Knoepfle, N; Putnam-Evans, C

1997-01-01

Synechocystis 6803 is a cyanobacterium that carries out-oxygenic photosynthesis. We are interested in the introduction of mutations in the large extrinsic loop region of the CP43 protein of Photosystem II (PSII). CP43 appears to be required for the stable assembly of the PSII complex and also appears to play a role in photosynthetic oxygen evolution. Deletion of short segments of the large extrinsic loop results in mutants incapable of evolving oxygen. Alterations in psbC, the gene encoding CP43, are introduced into Synechocystis 6803 by transformation and homologous recombination. Specifically, plasmid constructs bearing the site-directed mutations are introduced into a deletion strain where the portion of the gene encoding the area of mutation has been deleted and replaced by a gene conferring antibiotic resistance. We have constructed a deletion strain of Synechocystis appropriate for the introduction of mutations in the large extrinsic loop of CP43 and have used it successfully to produce site-directed mutants.

[Human brown adipose tissue].

Science.gov (United States)

Virtanen, Kirsi A; Nuutila, Pirjo

2015-01-01

Adult humans have heat-producing and energy-consuming brown adipose tissue in the clavicular region of the neck. There are two types of brown adipose cells, the so-called classic and beige adipose cells. Brown adipose cells produce heat by means of uncoupler protein 1 (UCP1) from fatty acids and sugar. By applying positron emission tomography (PET) measuring the utilization of sugar, the metabolism of brown fat has been shown to multiply in the cold, presumably influencing energy consumption. Active brown fat is most likely present in young adults, persons of normal weight and women, least likely in obese persons.

Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy

International Nuclear Information System (INIS)

Bianchi, Marzia; Rizza, Teresa; Verrigni, Daniela; Martinelli, Diego; Tozzi, Giulia; Torraco, Alessandra; Piemonte, Fiorella; Dionisi-Vici, Carlo; Nobili, Valerio; Francalanci, Paola; Boldrini, Renata; Callea, Francesco; Santorelli, Filippo Maria; Bertini, Enrico

2011-01-01

Highlights: ► Expanded array of mtDNA deletions. ► Pearson syndrome with prominent hepatopathy associated with single mtDNA deletions. ► Detection of deletions in fibroblasts and blood avoids muscle and liver biopsy. ► Look for mtDNA deletions before to study nuclear genes related to mtDNA depletion. -- Abstract: Hepatic involvement in mitochondrial cytopathies rarely manifests in adulthood, but is a common feature in children. Multiple OXPHOS enzyme defects in children with liver involvement are often associated with dramatically reduced amounts of mtDNA. We investigated two novel large scale deletions in two infants with a multisystem disorder and prominent hepatopathy. Amount of mtDNA deletions and protein content were measured in different post-mortem tissues. The highest levels of deleted mtDNA were in liver, kidney, pancreas of both patients. Moreover, mtDNA deletions were detected in cultured skin fibroblasts in both patients and in blood of one during life. Biochemical analysis showed impairment of mainly complex I enzyme activity. Patients manifesting multisystem disorders in childhood may harbour rare mtDNA deletions in multiple tissues. For these patients, less invasive blood specimens or cultured fibroblasts can be used for molecular diagnosis. Our data further expand the array of deletions in the mitochondrial genomes in association with liver failure. Thus analysis of mtDNA should be considered in the diagnosis of childhood-onset hepatopathies.

Phonological Processes in Complex and Compound Words

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Alieh Kord Zaferanlu Kambuziya

2016-02-01

Full Text Available Abstract This research at making a comparison between phonological processes in complex and compound Persian words. Data are gathered from a 40,000-word Persian dictionary. To catch some results, 4,034 complex words and 1,464 compound ones are chosen. To count the data, "excel" software is used. Some results of the research are: 1- "Insertion" is the usual phonological process in complex words. More than half of different insertions belongs to the consonant /g/. Then /y/ and // are in the second and the third order. The consonant /v/ has the least percentage of all. The most percentage of vowel insertion belongs to /e/. The vowels /a/ and /o/ are in the second and third order. Deletion in complex words can only be seen in consonant /t/ and vowel /e/. 2- The most frequent phonological processes in compounds is consonant deletion. In this process, seven different consonants including /t/, //, /m/, /r/, / ǰ/, /d, and /c/. The only deleted vowel is /e/. In both groups of complex and compound, /t/ deletion can be observed. A sequence of three consonants paves the way for the deletion of one of the consonants, if one of the sequences is a sonorant one like /n/, the deletion process rarely happens. 3- In complex words, consonant deletion causes a lighter syllable weight, whereas vowel deletion causes a heavier syllable weight. So, both of the processes lead to bi-moraic weight. 4- The production of bi-moraic syllable in Persian is preferable to Syllable Contact Law. So, Specific Rules have precedence to Universals. 5- Vowel insertion can be seen in both groups of complex and compound words. In complex words, /e/ insertion has the most fundamental part. The vowels /a/ and /o/ are in the second and third place. Whenever there are two sequences of ultra-heavy syllables. By vowel insertion, the first syllable is broken into two light syllables. The compounds that are influenced by vowel insertion, can be and are pronounced without any insertion

Evolution of major histocompatibility complex class I and class II genes in the brown bear

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Kuduk Katarzyna

2012-10-01

Full Text Available Abstract Background Major histocompatibility complex (MHC proteins constitute an essential component of the vertebrate immune response, and are coded by the most polymorphic of the vertebrate genes. Here, we investigated sequence variation and evolution of MHC class I and class II DRB, DQA and DQB genes in the brown bear Ursus arctos to characterise the level of polymorphism, estimate the strength of positive selection acting on them, and assess the extent of gene orthology and trans-species polymorphism in Ursidae. Results We found 37 MHC class I, 16 MHC class II DRB, four DQB and two DQA alleles. We confirmed the expression of several loci: three MHC class I, two DRB, two DQB and one DQA. MHC class I also contained two clusters of non-expressed sequences. MHC class I and DRB allele frequencies differed between northern and southern populations of the Scandinavian brown bear. The rate of nonsynonymous substitutions (dN exceeded the rate of synonymous substitutions (dS at putative antigen binding sites of DRB and DQB loci and, marginally significantly, at MHC class I loci. Models of codon evolution supported positive selection at DRB and MHC class I loci. Both MHC class I and MHC class II sequences showed orthology to gene clusters found in the giant panda Ailuropoda melanoleuca. Conclusions Historical positive selection has acted on MHC class I, class II DRB and DQB, but not on the DQA locus. The signal of historical positive selection on the DRB locus was particularly strong, which may be a general feature of caniforms. The presence of MHC class I pseudogenes may indicate faster gene turnover in this class through the birth-and-death process. South–north population structure at MHC loci probably reflects origin of the populations from separate glacial refugia.

Evolution of major histocompatibility complex class I and class II genes in the brown bear.

Science.gov (United States)

Kuduk, Katarzyna; Babik, Wiesław; Bojarska, Katarzyna; Sliwińska, Ewa B; Kindberg, Jonas; Taberlet, Pierre; Swenson, Jon E; Radwan, Jacek

2012-10-02

Major histocompatibility complex (MHC) proteins constitute an essential component of the vertebrate immune response, and are coded by the most polymorphic of the vertebrate genes. Here, we investigated sequence variation and evolution of MHC class I and class II DRB, DQA and DQB genes in the brown bear Ursus arctos to characterise the level of polymorphism, estimate the strength of positive selection acting on them, and assess the extent of gene orthology and trans-species polymorphism in Ursidae. We found 37 MHC class I, 16 MHC class II DRB, four DQB and two DQA alleles. We confirmed the expression of several loci: three MHC class I, two DRB, two DQB and one DQA. MHC class I also contained two clusters of non-expressed sequences. MHC class I and DRB allele frequencies differed between northern and southern populations of the Scandinavian brown bear. The rate of nonsynonymous substitutions (dN) exceeded the rate of synonymous substitutions (dS) at putative antigen binding sites of DRB and DQB loci and, marginally significantly, at MHC class I loci. Models of codon evolution supported positive selection at DRB and MHC class I loci. Both MHC class I and MHC class II sequences showed orthology to gene clusters found in the giant panda Ailuropoda melanoleuca. Historical positive selection has acted on MHC class I, class II DRB and DQB, but not on the DQA locus. The signal of historical positive selection on the DRB locus was particularly strong, which may be a general feature of caniforms. The presence of MHC class I pseudogenes may indicate faster gene turnover in this class through the birth-and-death process. South-north population structure at MHC loci probably reflects origin of the populations from separate glacial refugia.

Evolution of major histocompatibility complex class I and class II genes in the brown bear

Science.gov (United States)

2012-01-01

Background Major histocompatibility complex (MHC) proteins constitute an essential component of the vertebrate immune response, and are coded by the most polymorphic of the vertebrate genes. Here, we investigated sequence variation and evolution of MHC class I and class II DRB, DQA and DQB genes in the brown bear Ursus arctos to characterise the level of polymorphism, estimate the strength of positive selection acting on them, and assess the extent of gene orthology and trans-species polymorphism in Ursidae. Results We found 37 MHC class I, 16 MHC class II DRB, four DQB and two DQA alleles. We confirmed the expression of several loci: three MHC class I, two DRB, two DQB and one DQA. MHC class I also contained two clusters of non-expressed sequences. MHC class I and DRB allele frequencies differed between northern and southern populations of the Scandinavian brown bear. The rate of nonsynonymous substitutions (dN) exceeded the rate of synonymous substitutions (dS) at putative antigen binding sites of DRB and DQB loci and, marginally significantly, at MHC class I loci. Models of codon evolution supported positive selection at DRB and MHC class I loci. Both MHC class I and MHC class II sequences showed orthology to gene clusters found in the giant panda Ailuropoda melanoleuca. Conclusions Historical positive selection has acted on MHC class I, class II DRB and DQB, but not on the DQA locus. The signal of historical positive selection on the DRB locus was particularly strong, which may be a general feature of caniforms. The presence of MHC class I pseudogenes may indicate faster gene turnover in this class through the birth-and-death process. South–north population structure at MHC loci probably reflects origin of the populations from separate glacial refugia. PMID:23031405

Comparative study of bitumoids of Irkutsk sapropelite and of brown coal

Energy Technology Data Exchange (ETDEWEB)

Shishkov, V.F.; Randin, O.I.; Kushnarev, D.F.; Polonov, V.M.; Kalabin, G.A.; Tuturina, V.V.

1986-05-01

Complex physical-chemical methods are reviewed used to study sapropelite and brown coal alcohol-benzine and chloroform bitumoids from coal of various origins, and to determine their chemical structure. Tests were made on bitumoids obtained by a 100 h extraction in Soxhlet apparatus from natural Budgaovsk sapropelite and Azeisk and Mugunsk brown coal, which have a similar degree of metamorphism. Elemental composition, chloroform bitumoids and mass spectra were determined using Bruker-WP-200 SY, Varian-MAT and Specord apparatus. Considerable variation in aromatic carbon content among sapropelite and brown coal bitumoids was established. The presence of paraffin isomeric structure is identified in hydrocarbon part of bitumoid. Triterpane hydrocarbons were detected in all samples. Elemental composition of bitumoids, composition of hydrocarbon fractions, and others, are given. 11 references.

Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy

Energy Technology Data Exchange (ETDEWEB)

Bianchi, Marzia; Rizza, Teresa; Verrigni, Daniela [Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, ' Bambino Gesu' Children' s Hospital, Rome (Italy); Martinelli, Diego [Division of Metabolism, ' Bambino Gesu' Children' s Hospital, Rome (Italy); Tozzi, Giulia; Torraco, Alessandra; Piemonte, Fiorella [Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, ' Bambino Gesu' Children' s Hospital, Rome (Italy); Dionisi-Vici, Carlo [Division of Metabolism, ' Bambino Gesu' Children' s Hospital, Rome (Italy); Nobili, Valerio [Gastroenterology and Liver Unit, ' Bambino Gesu' Children' s Hospital, Rome (Italy); Francalanci, Paola; Boldrini, Renata; Callea, Francesco [Dept. Pathology, ' Bambino Gesu' Children' s Hospital, Rome (Italy); Santorelli, Filippo Maria [UOC Neurogenetica e Malattie Neuromuscolari, Fondazione Stella Maris, Pisa (Italy); Bertini, Enrico [Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, ' Bambino Gesu' Children' s Hospital, Rome (Italy); and others

2011-11-18

Highlights: Black-Right-Pointing-Pointer Expanded array of mtDNA deletions. Black-Right-Pointing-Pointer Pearson syndrome with prominent hepatopathy associated with single mtDNA deletions. Black-Right-Pointing-Pointer Detection of deletions in fibroblasts and blood avoids muscle and liver biopsy. Black-Right-Pointing-Pointer Look for mtDNA deletions before to study nuclear genes related to mtDNA depletion. -- Abstract: Hepatic involvement in mitochondrial cytopathies rarely manifests in adulthood, but is a common feature in children. Multiple OXPHOS enzyme defects in children with liver involvement are often associated with dramatically reduced amounts of mtDNA. We investigated two novel large scale deletions in two infants with a multisystem disorder and prominent hepatopathy. Amount of mtDNA deletions and protein content were measured in different post-mortem tissues. The highest levels of deleted mtDNA were in liver, kidney, pancreas of both patients. Moreover, mtDNA deletions were detected in cultured skin fibroblasts in both patients and in blood of one during life. Biochemical analysis showed impairment of mainly complex I enzyme activity. Patients manifesting multisystem disorders in childhood may harbour rare mtDNA deletions in multiple tissues. For these patients, less invasive blood specimens or cultured fibroblasts can be used for molecular diagnosis. Our data further expand the array of deletions in the mitochondrial genomes in association with liver failure. Thus analysis of mtDNA should be considered in the diagnosis of childhood-onset hepatopathies.

The Brown Trout (Salmo trutta L. at the Northeastern Border of the Species Area

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Makhrov Alexander

2013-03-01

Full Text Available The level of ecological and morphological plasticity as well as genetic diversity of brown trout at the northeastern border of its species area are about as high as in the central part, and the population structure is equally complex. Apparently, abiotic factors (competition with other salmonids rather than biotic ones prevent the brown trout area from expanding.

Fermented Brown Rice Flour as Functional Food Ingredient.

Science.gov (United States)

Ilowefah, Muna; Chinma, Chiemela; Bakar, Jamilah; Ghazali, Hasanah M; Muhammad, Kharidah; Makeri, Mohammad

2014-02-12

As fermentation could reduce the negative effects of bran on final cereal products, the utilization of whole-cereal flour is recommended, such as brown rice flour as a functional food ingredient. Therefore, this study aimed to investigate the effect of fermented brown rice flour on white rice flour, white rice batter and its steamed bread qualities. Brown rice batter was fermented using commercial baker's yeast (Eagle brand) according to the optimum conditions for moderate acidity (pH 5.5) to obtain fermented brown rice flour (FBRF). The FBRF was added to white rice flour at 0%, 10%, 20%, 30%, 40% and 50% levels to prepare steamed rice bread. Based on the sensory evaluation test, steamed rice bread containing 40% FBRF had the highest overall acceptability score. Thus, pasting properties of the composite rice flour, rheological properties of its batter, volume and texture properties of its steamed bread were determined. The results showed that peak viscosity of the rice flour containing 40% FBRF was significantly increased, whereas its breakdown, final viscosity and setback significantly decreased. Viscous, elastic and complex moduli of the batter having 40% FBRF were also significantly reduced. However, volume, specific volume, chewiness, resilience and cohesiveness of its steamed bread were significantly increased, while hardness and springiness significantly reduced in comparison to the control. These results established the effectiveness of yeast fermentation in reducing the detrimental effects of bran on the sensory properties of steamed white rice bread and encourage the usage of brown rice flour to enhance the quality of rice products.

The fate of deleted DNA produced during programmed genomic deletion events in Tetrahymena thermophila.

Science.gov (United States)

Saveliev, S V; Cox, M M

1994-01-01

Thousands of DNA deletion events occur during macronuclear development in the ciliate Tetrahymena thermophila. In two deleted genomic regions, designated M and R, the eliminated sequences form circles that can be detected by PCR. However, the circles are not normal products of the reaction pathway. The circular forms occur at very low levels in conjugating cells, but are stable. Sequencing analysis showed that many of the circles (as many as 50% of those examined) reflected a precise deletion in the M and R regions. The remaining circles were either smaller or larger and contained varying lengths of sequences derived from the chromosomal DNA surrounding the eliminated region. The chromosomal junctions left behind after deletion were more precise, although deletions in either the M or R regions can generate any of several alternative junctions (1). Some new chromosomal junctions were detected in the present study. The results suggest that the deleted segment is released as a linear DNA species that is degraded rapidly. The species is only rarely converted to the stable circles we detect. The deletion mechanism is different from those proposed for deletion events in hypotrichous ciliates (2-4), and does not reflect a conservative site-specific recombination process such as that promoted by the bacteriophage lambda integrase (5). Images PMID:7838724

Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy

DEFF Research Database (Denmark)

Møller, Rikke S; Weber, Yvonne G; Klitten, Laura L

2013-01-01

Neurexins are neuronal adhesion molecules located in the presynaptic terminal, where they interact with postsynaptic neuroligins to form a transsynaptic complex required for efficient neurotransmission in the brain. Recently, deletions and point mutations of the neurexin 1 (NRXN1) gene have been ...

SPECTROSCOPY OF PUTATIVE BROWN DWARFS IN TAURUS

International Nuclear Information System (INIS)

Luhman, K. L.; Mamajek, E. E.

2010-01-01

Quanz and coworkers have reported the discovery of the coolest known member of the Taurus star-forming complex (L2 ± 0.5), and Barrado and coworkers have identified a possible protostellar binary brown dwarf in the same region. We have performed infrared spectroscopy on the former and the brighter component of the latter to verify their substellar nature. The resulting spectra do not exhibit the strong steam absorption bands that are expected for cool objects, demonstrating that they are not young brown dwarfs. The optical magnitudes and colors for these sources are also indicative of background stars rather than members of Taurus. Although the fainter component of the candidate protostellar binary lacks spectroscopy, we conclude that it is a galaxy rather than a substellar member of Taurus based on its colors and the constraints on its proper motion.

A familial Cri-du-Chat/5p deletion syndrome resulted from rare maternal complex chromosomal rearrangements (CCRs and/or possible chromosome 5p chromothripsis.

Directory of Open Access Journals (Sweden)

Heng Gu

Full Text Available Cri-du-Chat syndrome (MIM 123450 is a chromosomal syndrome characterized by the characteristic features, including cat-like cry and chromosome 5p deletions. We report a family with five individuals showing chromosomal rearrangements involving 5p, resulting from rare maternal complex chromosomal rearrangements (CCRs, diagnosed post- and pre-natally by comprehensive molecular and cytogenetic analyses. Two probands, including a 4½-year-old brother and his 2½-year- old sister, showed no diagnostic cat cry during infancy, but presented with developmental delay, dysmorphic and autistic features. Both patients had an interstitial deletion del(5(p13.3p15.33 spanning ≈ 26.22 Mb. The phenotypically normal mother had de novo CCRs involving 11 breakpoints and three chromosomes: ins(11;5 (q23;p14.1p15.31,ins(21;5(q21;p13.3p14.1,ins(21;5(q21;p15.31p15.33,inv(7(p22q32dn. In addition to these two children, she had three first-trimester miscarriages, two terminations due to the identification of the 5p deletion and one delivery of a phenotypically normal daughter. The unaffected daughter had the maternal ins(11;5 identified prenatally and an identical maternal allele haplotype of 5p. Array CGH did not detect any copy number changes in the mother, and revealed three interstitial deletions within 5p15.33-p13.3, in the unaffected daughter, likely products of the maternal insertions ins(21;5. Chromothripsis has been recently reported as a mechanism drives germline CCRs in pediatric patients with congenital defects. We postulate that the unique CCRs in the phenotypically normal mother could resulted from chromosome 5p chromothripsis, that further resulted in the interstitial 5p deletions in the unaffected daughter. Further high resolution sequencing based analysis is needed to determine whether chromothripsis is also present as a germline structural variation in phenotypically normal individuals in this family.

Brown adipocyte function

DEFF Research Database (Denmark)

Winther, Sally

. The first part of this thesis explores this by identifying and investigating two novel kinase regulators of brown adipocyte function. Study 1 demonstrates that spleen tyrosine kinase is a hitherto undescribed regulator of brown adipocyte differentiation and activation. Study 2 identifies glycogen synthase...

Schizophrenia and chromosomal deletions

Energy Technology Data Exchange (ETDEWEB)

Lindsay, E.A.; Baldini, A. [Baylor College of Medicine, Houston, TX (United States); Morris, M. A. [Univ. of Geneva School of Medicine, NY (United States)] [and others

1995-06-01

Recent genetic linkage analysis studies have suggested the presence of a schizophrenia locus on the chromosomal region 22q11-q13. Schizophrenia has also been frequently observed in patients affected with velo-cardio-facial syndrome (VCFS), a disorder frequently associated with deletions within 22q11.1. It has been hypothesized that psychosis in VCFS may be due to deletion of the catechol-o-methyl transferase gene. Prompted by these observations, we screened for 22q11 deletions in a population of 100 schizophrenics selected from the Maryland Epidemiological Sample. Our results show that there are schizophrenic patients carrying a deletion of 22q11.1 and a mild VCFS phenotype that might remain unrecognized. These findings should encourage a search for a schizophrenia-susceptibility gene within the deleted region and alert those in clinical practice to the possible presence of a mild VCFS phenotype associated with schizophrenia. 9 refs.

Brown dwarfs as dark galactic halos

International Nuclear Information System (INIS)

Adams, F.C.; Walker, T.P.

1990-01-01

The possibility that the dark matter in galactic halos can consist of brown dwarf stars is considered. The radiative signature for such halos consisting solely of brown dwarfs is calculated, and the allowed range of brown dwarf masses, the initial mass function (IMF), the stellar properties, and the density distribution of the galactic halo are discussed. The prediction emission from the halo is compared with existing observations. It is found that, for any IMF of brown dwarfs below the deuterium burning limit, brown dwarf halos are consistent with observations. Brown dwarf halos cannot, however, explain the recently observed near-IR background. It is shown that future satellite missions will either detect brown dwarf halos or place tight constraints on the allowed range of the IMF. 30 refs

Deletion mutations of bacteriophage

International Nuclear Information System (INIS)

Ryo, Yeikou

1975-01-01

Resolution of mutation mechanism with structural changes of DNA was discussed through the studies using bacteriophage lambda. One of deletion mutations inductions of phage lambda is the irradiation of ultraviolet ray. It is not clear if the inductions are caused by errors in reparation of ultraviolet-induced damage or by the activation of int gene. Because the effective site of int gene lies within the regions unnecessary for existing, it is considered that int gene is connected to deletion mutations induction. A certain system using prophage complementarity enables to detect deletion mutations at essential hereditary sites and to solve the relations of deletion mutations with other recombination system, DNA reproduction and repairment system. Duplication and multiplication of hereditary elements were discussed. If lambda deletion mutations of the system, which can control recombination, reproduction and repairment of added DNA, are constructed, mutations mechanism with great changes of DNA structure can be solved by phage lambda. (Ichikawa, K.)

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.

Benchmarking Brown Dwarf Models With a Non-irradiated Transiting Brown Dwarf in Praesepe

Science.gov (United States)

Beatty, Thomas; Marley, Mark; Line, Michael; Gizis, John

2018-05-01

We wish to use 9.4 hours of Spitzer time to observe two eclipses, one each at 3.6um and 4.5um, of the transiting brown dwarf AD 3116b. AD 3116b is a 54.2+/-4.3 MJ, 1.08+/-0.07 RJ object on a 1.98 day orbit about a 3200K M-dwarf. Uniquely, AD 3116 and its host star are both members of Praesepe, a 690+/-60 Myr old open cluster. AD 3116b is thus one of two transiting brown dwarfs for which we have a robust isochronal age that is not dependent upon brown dwarf evolutionary models, and the youngest brown dwarf for which this is the case. Importantly, the flux AD 3116b receives from its host star is only 0.7% of its predicted internal luminosity (Saumon & Marley 2008). This makes AD 3116b the first known transiting brown dwarf that simultaneously has a well-defined age, and that receives a negligible amount of external irradiation, and a unique laboratory to test radius and luminosity predictions from brown dwarf evolutionary models. Our goal is to measure the emission from the brown dwarf. AD 3116b should have large, 25 mmag, eclipse depths in the Spitzer bandpasses, and we expect to measure them with a precision of +/-0.50 mmag at 3.6um and +/-0.54 mmag at 4.5um. This will allow us to make measure AD 3116b?s internal effective temperature to +/-40K. We will also use the upcoming Gaia DR2 parallaxes to measure AD 3116b's absolute IRAC magnitudes and color, and hence determine the cloud properties of the atmosphere. As the only known brown dwarf with an independently measured mass, radius, and age, Spitzer measurements of AD 3116b's luminosity and clouds will provide a critical benchmark for brown dwarf observation and theory.

Structures of Receptor Complexes of a North American H7N2 Influenza Hemagglutinin with a Loop Deletion in the Receptor Binding Site

Energy Technology Data Exchange (ETDEWEB)

Yang, Hua; Chen, Li-Mei; Carney, Paul J.; Donis, Ruben O.; Stevens, James (CDC)

2012-02-21

Human infections with subtype H7 avian influenza viruses have been reported as early as 1979. In 1996, a genetically stable 24-nucleotide deletion emerged in North American H7 influenza virus hemagglutinins, resulting in an eight amino acid deletion in the receptor-binding site. The continuous circulation of these viruses in live bird markets, as well as its documented ability to infect humans, raises the question of how these viruses achieve structural stability and functionality. Here we report a detailed molecular analysis of the receptor binding site of the North American lineage subtype H7N2 virus A/New York/107/2003 (NY107), including complexes with an avian receptor analog (3'-sialyl-N-acetyllactosamine, 3'SLN) and two human receptor analogs (6'-sialyl-N-acetyllactosamine, 6'SLN; sialyllacto-N-tetraose b, LSTb). Structural results suggest a novel mechanism by which residues Arg220 and Arg229 (H3 numbering) are used to compensate for the deletion of the 220-loop and form interactions with the receptor analogs. Glycan microarray results reveal that NY107 maintains an avian-type ({alpha}2-3) receptor binding profile, with only moderate binding to human-type ({alpha}2-6) receptor. Thus despite its dramatically altered receptor binding site, this HA maintains functionality and confirms a need for continued influenza virus surveillance of avian and other animal reservoirs to define their zoonotic potential.

Structures of receptor complexes of a North American H7N2 influenza hemagglutinin with a loop deletion in the receptor binding site.

Directory of Open Access Journals (Sweden)

Hua Yang

2010-09-01

Full Text Available Human infections with subtype H7 avian influenza viruses have been reported as early as 1979. In 1996, a genetically stable 24-nucleotide deletion emerged in North American H7 influenza virus hemagglutinins, resulting in an eight amino acid deletion in the receptor-binding site. The continuous circulation of these viruses in live bird markets, as well as its documented ability to infect humans, raises the question of how these viruses achieve structural stability and functionality. Here we report a detailed molecular analysis of the receptor binding site of the North American lineage subtype H7N2 virus A/New York/107/2003 (NY107, including complexes with an avian receptor analog (3'-sialyl-N-acetyllactosamine, 3'SLN and two human receptor analogs (6'-sialyl-N-acetyllactosamine, 6'SLN; sialyllacto-N-tetraose b, LSTb. Structural results suggest a novel mechanism by which residues Arg220 and Arg229 (H3 numbering are used to compensate for the deletion of the 220-loop and form interactions with the receptor analogs. Glycan microarray results reveal that NY107 maintains an avian-type (alpha2-3 receptor binding profile, with only moderate binding to human-type (alpha2-6 receptor. Thus despite its dramatically altered receptor binding site, this HA maintains functionality and confirms a need for continued influenza virus surveillance of avian and other animal reservoirs to define their zoonotic potential.

Characterization of a complex rearrangement involving duplication and deletion of 9p in an infant with craniofacial dysmorphism and cardiac anomalies

Directory of Open Access Journals (Sweden)

Di Bartolo Daniel L

2012-07-01

Full Text Available Abstract Partial duplication and partial deletion of the short arm of chromosome 9 have each been reported in the literature as clinically recognizable syndromes. We present clinical, cytogenetic, and molecular findings on a five-week-old female infant with concomitant duplication and terminal deletion of the short arm of chromosome 9. To our knowledge ten such cases have previously been reported. Conventional cytogenetic analysis identified additional material on chromosome 9 at band p23. FISH analysis aided in determining the additional material consisted of an inverted duplication with a terminal deletion of the short arm. Microarray analysis confirmed this interpretation and further characterized the abnormality as a duplication of about 32.7 Mb, from 9p23 to 9p11.2, and a terminal deletion of about 11.5 Mb, from 9p24.3 to 9p23. The infant displayed characteristic features of Duplication 9p Syndrome (hypotonia, bulbous nose, single transverse palmar crease, cranial anomalies, as well as features associated with Deletion 9p Syndrome (flat nasal bridge, long philtrum, cardiac anomalies despite the deletion being distal to the reported critical region for this syndrome. This case suggests that there are genes or regulatory elements that lie outside of the reported critical region responsible for certain phenotypic features associated with Deletion 9p Syndrome. It also underscores the importance of utilizing array technology to precisely define abnormalities involving the short arm of 9p in order to further refine genotype/phenotype associations and to identify additional cases of duplication/deletion.

Strategies for state-dependent quantum deleting

International Nuclear Information System (INIS)

Song Wei; Yang Ming; Cao Zhuoliang

2004-01-01

A quantum state-dependent quantum deleting machine is constructed. We obtain a upper bound of the global fidelity on N-to-M quantum deleting from a set of K non-orthogonal states. Quantum networks are constructed for the above state-dependent quantum deleting machine when K=2. Our deleting protocol only involves a unitary interaction among the initial copies, with no ancilla. We also present some analogies between quantum cloning and deleting

Brown Dwarf Variability: What's Varying and Why?

Science.gov (United States)

Marley, Mark Scott

2014-01-01

Surveys by ground based telescopes, HST, and Spitzer have revealed that brown dwarfs of most spectral classes exhibit variability. The spectral and temporal signatures of the variability are complex and apparently defy simplistic classification which complicates efforts to model the changes. Important questions include understanding if clearings are forming in an otherwise uniform cloud deck or if thermal perturbations, perhaps associated with breaking gravity waves, are responsible. If clouds are responsible how long does it take for the atmospheric thermal profile to relax from a hot cloudy to a cooler cloudless state? If thermal perturbations are responsible then what atmospheric layers are varying? How do the observed variability timescales compare to atmospheric radiative, chemical, and dynamical timescales? I will address such questions by presenting modeling results for time-varying partly cloudy atmospheres and explore the importance of various atmospheric processes over the relevant timescales for brown dwarfs of a range of effective temperatures. Regardless of the origin of the observed variability, the complexity seen in the atmospheres of the field dwarfs hints at the variability that we may encounter in the next few years in directly imaged young Jupiters. Thus understanding the nature of variability in the field dwarfs, including sensitivity to gravity and metallicity, is of particular importance for exoplanet characterization.

The first Dutch SDHB founder deletion in paraganglioma – pheochromocytoma patients

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Devilee Peter

2009-04-01

Full Text Available Abstract Background Germline mutations of the tumor suppressor genes SDHB, SDHC and SDHD play a major role in hereditary paraganglioma and pheochromocytoma. These three genes encode subunits of succinate dehydrogenase (SDH, the mitochondrial tricarboxylic acid cycle enzyme and complex II component of the electron transport chain. The majority of variants of the SDH genes are missense and nonsense mutations. To date few large deletions of the SDH genes have been described. Methods We carried out gene deletion scanning using MLPA in 126 patients negative for point mutations in the SDH genes. We then proceeded to the molecular characterization of deletions, mapping breakpoints in each patient and used haplotype analysis to determine whether the deletions are due to a mutation hotspot or if a common haplotype indicated a single founder mutation. Results A novel deletion of exon 3 of the SDHB gene was identified in nine apparently unrelated Dutch patients. An identical 7905 bp deletion, c.201-4429_287-933del, was found in all patients, resulting in a frameshift and a predicted truncated protein, p.Cys68HisfsX21. Haplotype analysis demonstrated a common haplotype at the SDHB locus. Index patients presented with pheochromocytoma, extra-adrenal PGL and HN-PGL. A lack of family history was seen in seven of the nine cases. Conclusion The identical exon 3 deletions and common haplotype in nine patients indicates that this mutation is the first Dutch SDHB founder mutation. The predominantly non-familial presentation of these patients strongly suggests reduced penetrance. In this small series HN-PGL occurs as frequently as pheochromocytoma and extra-adrenal PGL.

European brown hare syndrome virus in free-ranging European brown hares from Argentina

DEFF Research Database (Denmark)

Frolich, K.; Kujawski, G.E.J.G.; Rudolph, M.

2003-01-01

From 1998 to 2000, serum samples of 80 shot European brown hares (Lepus europaeus) from Argentina were examined for antibodies against European brown hare syndrome virus (EBHSV) and 80 spleen samples were tested for EBHSV-antigen by enzyme linked immunosorbent assay (ELISA). Nine hares were posit...... in these hares. This is the first report of antibodies to EBHSV, EBHSV-antigen, and electron microscopy findings in free-ranging European brown hares from South America....

Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration.

Science.gov (United States)

Cuscó, Ivon; del Campo, Miguel; Vilardell, Mireia; González, Eva; Gener, Blanca; Galán, Enrique; Toledo, Laura; Pérez-Jurado, Luis A

2008-04-11

Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by specific facial features, mild to moderate mental retardation, postnatal growth delay, skeletal abnormalities, and unusual dermatoglyphic patterns with prominent fingertip pads. A 3.5 Mb duplication at 8p23.1-p22 was once reported as a specific alteration in KS but has not been confirmed in other patients. The molecular basis of KS remains unknown. We have studied 16 Spanish patients with a clinical diagnosis of KS or KS-like to search for genomic imbalances using genome-wide array technologies. All putative rearrangements were confirmed by FISH, microsatellite markers and/or MLPA assays, which also determined whether the imbalance was de novo or inherited. No duplication at 8p23.1-p22 was observed in our patients. We detected complex rearrangements involving 2q in two patients with Kabuki-like features: 1) a de novo inverted duplication of 11 Mb with a 4.5 Mb terminal deletion, and 2) a de novo 7.2 Mb-terminal deletion in a patient with an additional de novo 0.5 Mb interstitial deletion in 16p. Additional copy number variations (CNV), either inherited or reported in normal controls, were identified and interpreted as polymorphic variants. No specific CNV was significantly increased in the KS group. Our results further confirmed that genomic duplications of 8p23 region are not a common cause of KS and failed to detect other recurrent rearrangement causing this disorder. The detection of two patients with 2q37 deletions suggests that there is a phenotypic overlap between the two conditions, and screening this region in the Kabuki-like patients should be considered.

Analysis of human HPRT- deletion mutants by the microarray-CGH (comparative genomic hybridization)

International Nuclear Information System (INIS)

Kodaira, M.; Sasaki, K.; Tagawa, H.; Omine, H.; Kushiro, J.; Takahashi, N.; Katayama, H.

2003-01-01

We are trying to evaluate genetic effects of radiation on human using mutation frequency as an indicator. For the efficient detection of mutations, it is important to understand the mechanism and the characteristics of radiation-induced mutations. We have started the analysis of hypoxanthine-guanine phosphoribosyl transferase (HPRT) mutants induced by X-ray in order to clarify the deletion size and the mutation-distribution. We analyzed 39 human X-ray induced HPRT-deletion mutants by using the microarray-CGH. The array for this analysis contains 57 BAC clones covering as much as possible of the 4Mb of the 5' side and 10Mb of the 3' side of the HPRT gene based on the NCBI genome database. DNA from parent strain and each HPRT-mutant strain are labeled with Cy5 and Cy3 respectively, and were mixed and hybridized on the array. Fluorescent intensity ratio of the obtained spots was analyzed using software we developed to identify clones corresponding to the deletion region. The deletion in these strains ranged up to 3.5 Mb on the 5' side and 6 Mb on the 3' side of the HPRT gene. Deletions in 13 strains ended around BAC clones located at about 3 Mb on the 5' side. On the 3' side, deletions extended up to the specific clones located at 1.5 Mb in 11 strains. The mutations seem to be complex on the 3' end of deletion; some accompanied duplications with deletions and others could not be explained by one mutation event. We need to confirm these results, taking into account the experimental reproducibility and the accuracy of the published genetic map. The results of the research using the microarray-CGH help us to search the regions where deletions are easily induced and to identify the factors affecting the range of deletions

Klf5 deletion promotes Pten deletion-initiated luminal-type mouse prostate tumors through multiple oncogenic signaling pathways.

Science.gov (United States)

Xing, Changsheng; Ci, Xinpei; Sun, Xiaodong; Fu, Xiaoying; Zhang, Zhiqian; Dong, Eric N; Hao, Zhao-Zhe; Dong, Jin-Tang

2014-11-01

Krüppel-like factor 5 (KLF5) regulates multiple biologic processes. Its function in tumorigenesis appears contradictory though, showing both tumor suppressor and tumor promoting activities. In this study, we examined whether and how Klf5 functions in prostatic tumorigenesis using mice with prostate-specific deletion of Klf5 and phosphatase and tensin homolog (Pten), both of which are frequently inactivated in human prostate cancer. Histologic analysis demonstrated that when one Pten allele was deleted, which causes mouse prostatic intraepithelial neoplasia (mPIN), Klf5 deletion accelerated the emergence and progression of mPIN. When both Pten alleles were deleted, which causes prostate cancer, Klf5 deletion promoted tumor growth, increased cell proliferation, and caused more severe morphologic and molecular alterations. Homozygous deletion of Klf5 was more effective than hemizygous deletion. Unexpectedly, while Pten deletion alone expanded basal cell population in a tumor as reported, Klf5 deletion in the Pten-null background clearly reduced basal cell population while expanding luminal cell population. Global gene expression profiling, pathway analysis, and experimental validation indicate that multiple mechanisms could mediate the tumor-promoting effect of Klf5 deletion, including the up-regulation of epidermal growth factor and its downstream signaling molecules AKT and ERK and the inactivation of the p15 cell cycle inhibitor. KLF5 also appears to cooperate with several transcription factors, including CREB1, Sp1, Myc, ER and AR, to regulate gene expression. These findings validate the tumor suppressor function of KLF5. They also yield a mouse model that shares two common genetic alterations with human prostate cancer-mutation/deletion of Pten and deletion of Klf5.

7 CFR 29.3505 - Brown colors.

Science.gov (United States)

2010-01-01

... 7 Agriculture 2 2010-01-01 2010-01-01 false Brown colors. 29.3505 Section 29.3505 Agriculture... Type 95) § 29.3505 Brown colors. A group of colors ranging from a light brown to a dark brown. These colors vary from medium to low saturation and from medium to very low brillance. As used in these...

7 CFR 29.2504 - Brown colors.

Science.gov (United States)

2010-01-01

... 7 Agriculture 2 2010-01-01 2010-01-01 false Brown colors. 29.2504 Section 29.2504 Agriculture...-Cured Tobacco (u.s. Types 22, 23, and Foreign Type 96) § 29.2504 Brown colors. A group of colors ranging from a reddish brown to yellowish brown. These colors vary from low to medium saturation and from very...

Novel nuances of human brown fat

DEFF Research Database (Denmark)

Scheele, Camilla; Larsen, Therese Juhlin; Nielsen, Søren

2014-01-01

the types of thermogenic adipocytes in humans. We recently published a contradictory mRNA expression signature of human supraclavicular fat defined by an upregulation of the brite marker TBX1 along with the classical brown markers ZIC1 and LHX8, as well as genes indicating brown fat activity including UCP1......, there was no difference in UCP1, PGC-1α, PRDM16, suggesting both depots had equal brown fat potency. Taken together, supraclavicular brown fat derived from adult humans seems to represent a type of brown fat with distinct features from both subcutaneous white/brite and interscapular brown fat. Therefore......There is a current debate in the literature on whether human fat derived from the supraclavicular region should be classified as brown, or as the white fat-derived less potent, brite/beige. This commentary addresses whether the existing classification defined in mice is sufficient to describe...

SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly.

Science.gov (United States)

Fontana, P; Grasso, M; Acquaviva, F; Gennaro, E; Galli, M L; Falco, M; Scarano, F; Scarano, G; Lonardo, F

2017-10-01

Prader-Willi syndrome is a complex condition caused by lack of expression of imprinted genes in the paternally derived region of chromosome 15 (15q11q13). A small number of patients with Prader-Willi phenotype have been discovered to have narrow deletions, not encompassing the whole critical region, but only the SNORD116 cluster, which includes genes codifying for small nucleolar RNAs. This kind of deletion usually is not detected by the classic DNA methylation analysis test. We present the case of a male patient with a mild Prader-Willi phenotype and a small deletion including SNORD116, diagnosed by methylation-sensitive multiplex ligation-dependent probe amplification (MLPA. The patient showed neonatal hypotonia, hyperphagia, obesity, central hypogonadism, hypothyroidism, strabismus. Stature and intellectual development are within the normal range. The presence of macrocephaly, observed in other cases of SNORD116 deletions as well, is uncommon for the classic phenotype of the syndrome. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Fucoidans from brown seaweeds

DEFF Research Database (Denmark)

Ale, Marcel Tutor; Meyer, Anne S.

2013-01-01

-proliferative effects on cancer cells. Recent work has revealed distinct structural features of fucoidans obtained from different brown seaweed sources. Fucoidans are classically obtained from brown seaweeds by multi-step, hot acid extraction, but the structural and compositional traits, and possibly the bioactivity......Fucoidan or fucoidans cover a family of sulfated fucose-rich polysaccharides, built of a backbone of L-fucose units, and characteristically found in brown seaweeds. Fucoidans have potential therapeutic properties, including anti-inflammatory and anti-coagulant activities, as well as anti...

Understanding Brown Dwarf Variability

Science.gov (United States)

Marley, Mark S.

2013-01-01

Surveys of brown dwarf variability continue to find that roughly half of all brown dwarfs are variable. While variability is observed amongst all types of brown dwarfs, amplitudes are typically greatest for L-T transition objects. In my talk I will discuss the possible physical mechanisms that are responsible for the observed variability. I will particularly focus on comparing and contrasting the effects of changes in atmospheric thermal profile and cloud opacity. The two different mechanisms will produce different variability signatures and I will discuss the extent to which the current datasets constrain both mechanisms. By combining constraints from studies of variability with existing spectral and photometric datasets we can begin to construct and test self-consistent models of brown dwarf atmospheres. These models not only aid in the interpretation of existing objects but also inform studies of directly imaged giant planets.

Social vocalizations of big brown bats vary with behavioral context.

Directory of Open Access Journals (Sweden)

Marie A Gadziola

Full Text Available Bats are among the most gregarious and vocal mammals, with some species demonstrating a diverse repertoire of syllables under a variety of behavioral contexts. Despite extensive characterization of big brown bat (Eptesicus fuscus biosonar signals, there have been no detailed studies of adult social vocalizations. We recorded and analyzed social vocalizations and associated behaviors of captive big brown bats under four behavioral contexts: low aggression, medium aggression, high aggression, and appeasement. Even limited to these contexts, big brown bats possess a rich repertoire of social vocalizations, with 18 distinct syllable types automatically classified using a spectrogram cross-correlation procedure. For each behavioral context, we describe vocalizations in terms of syllable acoustics, temporal emission patterns, and typical syllable sequences. Emotion-related acoustic cues are evident within the call structure by context-specific syllable types or variations in the temporal emission pattern. We designed a paradigm that could evoke aggressive vocalizations while monitoring heart rate as an objective measure of internal physiological state. Changes in the magnitude and duration of elevated heart rate scaled to the level of evoked aggression, confirming the behavioral state classifications assessed by vocalizations and behavioral displays. These results reveal a complex acoustic communication system among big brown bats in which acoustic cues and call structure signal the emotional state of a caller.

Brown colour in natural diamond and interaction between the brown related and other colour-inducing defects

International Nuclear Information System (INIS)

Fisher, D; Sibley, S J; Kelly, C J

2009-01-01

Absorption spectroscopy results on a range of type II diamonds are presented which enable the electronic states associated with them to be mapped out. High pressure, high temperature treatment of brown type IIa diamonds has enabled an activation energy for the removal of the brown colour of 8.0 ± 0.3 eV to be determined and this is consistent with expectations associated with the currently accepted vacancy cluster model for the defect. Theoretical calculations suggest that this defect will generate partially filled gap states about 1 eV above the valence band. Data on the photochromic behaviour of bands producing pink colour and their relation to brown colour are presented; these suggest that the pink bands are produced from two independent transitions with ground states close to each other just below the middle of the band gap. Compensation of neutral boron by charge transfer from states associated with brown colour is demonstrated via the correlated increase in neutral boron and decrease in brown colour on high pressure, high temperature treatment to remove the defects causing the brown colour.

Storage stability of flour-blasted brown rice

Science.gov (United States)

Brown rice was blasted with rice flour rather than sand in a sand blaster to make microscopic nicks and cuts so that water can easily penetrate into the brown rice endosperm and cook the rice in a shorter time. The flour-blasted American Basmati brown rice, long grain brown rice, and parboiled long...

Power technology complex for production of motor fuel from brown coals with power supply from NPPs

International Nuclear Information System (INIS)

Troyanov, M.F.; Poplavskij, V.M.; Sidorov, G.I.; Bondarenko, A.V.; Chebeskov, A.N.; Chushkin, V.N.; Karabash, A.A.; Krichko, A.A.; Maloletnev, A.S.

1998-01-01

With the present-day challenge of efficient use of low-grade coals and current restructuring of coal industry in the Russian Federation, it is urgent to organise the motor fuel production by the synthesis from low grade coals and heavy petroleum residues. With this objective in view, the Institute of Physics and Power Engineering of RF Minatom and Combustible Resources Institute of RF Mintopenergo proposed a project of a standard nuclear power technology complex for synthetic liquid fuel (SLF) production using fast neutron reactors for power supply. The proposed project has two main objectives: (1) Engineering and economical optimization of the nuclear power supply for SLF production; and (2) Engineering and economical optimization of the SLF production by hydrogenisation of brown coals and heavy petroleum residues with a complex development of advanced coal chemistry. As a first approach, a scheme is proposed with the use of existing reactor cooling equipment, in particular, steam generators of BN-600, limiting the effect on safety of reactor facility operation at minimum in case of deviations and abnormalities in the operation of technological complex. The possibility to exclude additional requirements to the equipment for nuclear facility cooling was also taken into account. It was proposed to use an intermediate steam-water circuit between the secondary circuit sodium and the coolant to heat the technological equipment. The only change required for the BN-600 equipment will be the replacement of sections of intermediate steam superheaters at the section of main steam superheaters. The economic aspects of synthetic motor fuel production proposed by the joint project depend on the evaluation of integral balances: thermal power engineering, chemical technology, the development of advanced large scale coal chemistry of high profitability; utilisation of ash and precious microelements in waste-free technology; production of valuable isotopes; radical solution of

A Nonverbal Phoneme Deletion Task Administered in a Dynamic Assessment Format

Science.gov (United States)

Gillam, Sandra Laing; Fargo, Jamison; Foley, Beth; Olszewski, Abbie

2011-01-01

Purpose: The purpose of the project was to design a nonverbal dynamic assessment of phoneme deletion that may prove useful with individuals who demonstrate complex communication needs (CCN) and are unable to communicate using natural speech or who present with moderate-severe speech impairments. Method: A nonverbal dynamic assessment of phoneme…

7 CFR 29.2254 - Brown colors.

Science.gov (United States)

2010-01-01

... 7 Agriculture 2 2010-01-01 2010-01-01 false Brown colors. 29.2254 Section 29.2254 Agriculture Regulations of the Department of Agriculture AGRICULTURAL MARKETING SERVICE (Standards, Inspections, Marketing... colors. A group of colors ranging from a reddish brown to yellowish brown. These colors vary from low to...

The effect of brown coal on the decrease in the content of mobile forms of copper and lead in ordinary calcareous chernozem

Energy Technology Data Exchange (ETDEWEB)

Bezuglova, O.S.; Ignatenko, E.L.; Morozov, I.V.; Shevchenko, I.D. [Rostov State University, Rostov na Donu (Russian Federation)

1996-09-01

Data on the use of brown coal as a soil detoxicant are presented. Purification of soil from heavy metals with brown coal depends on its sorptive properties and the ability of coal-derived humic acids to bind heavy metals into low mobile complexes. The effect of brown coal on the use of mobile copper by soil microorganisms leading to the enhancement of biological activity in chernozems is shown.

Rapid deletion production in fungi via Agrobacterium mediated transformation of OSCAR deletion contructs.

Science.gov (United States)

Precise deletion of gene(s) of interest, while leaving the rest of the genome unchanged, provides the ideal product to determine that particular gene’s function in the living organism. In this protocol we describe the OSCAR method of precise and rapid deletion plasmid construction. OSCAR relies on t...

Natural Inhibitors of Maillard Browning

Science.gov (United States)

2013-12-01

BREAD COLORING CHEESE SPREAD CHEMICAL REACTIONS FLAVOR OXIDATION DAIRY PRODUCTS...nutritional intake, and decrease waste due to non-consumption of sensory degraded ration components. 1.1 Maillard Browning Maillard browning, also

Expression of brown-midrib in a spontaneous sorghum mutant is linked to a 5'-UTR deletion in lignin biosynthesis gene SbCAD2

Science.gov (United States)

Brown midrib (bmr) mutants in sorghum (Sorghum bicolor (L.) Moench) and several other C4 grasses are associated with reduced lignin concentration, altered lignin composition and improved cell wall digestibility, which are desirable properties in biomass development for the emerging lignocellulosic b...

Arctic Tundra Greening and Browning at Circumpolar and Regional Scales

Science.gov (United States)

Epstein, H. E.; Bhatt, U. S.; Walker, D. A.; Raynolds, M. K.; Yang, X.

2017-12-01

Remote sensing data have historically been used to assess the dynamics of arctic tundra vegetation. Until recently the scientific literature has largely described the "greening" of the Arctic; from a remote sensing perspective, an increase in the Normalized Difference Vegetation Index (NDVI), or a similar satellite-based vegetation index. Vegetation increases have been heterogeneous throughout the Arctic, and were reported to be up to 25% in certain areas over a 30-year timespan. However, more recently, arctic tundra vegetation dynamics have gotten more complex, with observations of more widespread tundra "browning" being reported. We used a combination of remote sensing data, including the Global Inventory Monitoring and Modeling System (GIMMS), as well as higher spatial resolution Landsat data, to evaluate the spatio-temporal patterns of arctic tundra vegetation dynamics (greening and browning) at circumpolar and regional scales over the past 3-4 decades. At the circumpolar scale, we focus on the spatial heterogeneity (by tundra subzone and continent) of tundra browning over the past 5-15 years, followed by a more recent recovery (greening since 2015). Landsat time series allow us to evaluate the landscape-scale heterogeneity of tundra greening and browning for northern Alaska and the Yamal Peninsula in northwestern Siberia, Russia. Multi-dataset analyses reveal that tundra greening and browning (i.e. increases or decreases in the NDVI respectively) are generated by different sets of processes. Tundra greening is largely a result of either climate warming, lengthening of the growing season, or responses to disturbances, such as fires, landslides, and freeze-thaw processes. Browning on the other hand tends to be more event-driven, such as the shorter-term decline in vegetation due to fire, insect defoliation, consumption by larger herbivores, or extreme weather events (e.g. winter warming or early summer frost damage). Browning can also be caused by local or

Partial deletion 11q

DEFF Research Database (Denmark)

Hertz, Jens Michael; Tommerup, N; Sørensen, F B

1995-01-01

We describe the cytogenetic findings and the dysmorphic features in a stillborn girl with a large de novo terminal deletion of the long arm of chromosome 11. The karyotype was 46,XX,del(11)(q21qter). By reviewing previous reports of deletion 11q, we found that cleft lip and palate are most...

A Comprehensive tRNA Deletion Library Unravels the Genetic Architecture of the tRNA Pool

Science.gov (United States)

Bloom-Ackermann, Zohar; Navon, Sivan; Gingold, Hila; Towers, Ruth; Pilpel, Yitzhak; Dahan, Orna

2014-01-01

Deciphering the architecture of the tRNA pool is a prime challenge in translation research, as tRNAs govern the efficiency and accuracy of the process. Towards this challenge, we created a systematic tRNA deletion library in Saccharomyces cerevisiae, aimed at dissecting the specific contribution of each tRNA gene to the tRNA pool and to the cell's fitness. By harnessing this resource, we observed that the majority of tRNA deletions show no appreciable phenotype in rich medium, yet under more challenging conditions, additional phenotypes were observed. Robustness to tRNA gene deletion was often facilitated through extensive backup compensation within and between tRNA families. Interestingly, we found that within tRNA families, genes carrying identical anti-codons can contribute differently to the cellular fitness, suggesting the importance of the genomic surrounding to tRNA expression. Characterization of the transcriptome response to deletions of tRNA genes exposed two disparate patterns: in single-copy families, deletions elicited a stress response; in deletions of genes from multi-copy families, expression of the translation machinery increased. Our results uncover the complex architecture of the tRNA pool and pave the way towards complete understanding of their role in cell physiology. PMID:24453985

The browning kinetics of the non-enzymatic browning reaction in L-ascorbic acid/basic amino acid systems

Directory of Open Access Journals (Sweden)

Ai-Nong YU

Full Text Available Abstract Under the conditions of weak basis and the reaction temperature range of 110-150 °C, lysine, arginine and histidine were reacted with L-ascorbic acid at equal amount for 30-150 min, respectively and the formation of browning products was monitored with UV–vis spectrometry. The kinetic characteristics of their non-enzymatic browning reaction were investigated. The study results indicated that the non-enzymatic browning reaction of these three amino acids with L-ascorbic acid to form browning products was zero-order reaction. The apparent activation energies for the formation of browning products from L-ascorbic acid/lysine, L-ascorbic acid/arginine and L-ascorbic acid/histidine systems were 54.94, 50.08 and 35.31kJ/mol. The activation energy data indicated the degree of effects of reaction temperature on non-enzymatic browning reaction. Within the temperature range of 110-150 °C, the reaction rate of L-ascorbic acid/lysine system was the fastest one, followed by that of the L-ascorbic acid/arginine system. The reaction rate of L-ascorbic acid/histidine system was the slowest one. Based on the observed kinetic data, the formation mechanisms of browning products were proposed.

Brand deletion: How the decision-making approach affects deletion success

Directory of Open Access Journals (Sweden)

Víctor Temprano-García

2018-04-01

Full Text Available Literature on brand deletion (BD, a critical and topical decision within a firm's marketing strategy, is extremely scarce. The present research is concerned with the decision-making process and examines the effect on BD success of three different approaches to decision-making – rational, intuitive and political – and of the interaction between the rational and political approaches. The moderating effect of the type of BD – i.e., total brand killing or disposal vs. brand name change – is also analyzed. The model is tested on a sample of 155 cases of BD. Results point to positive effects on BD success of both rationality and intuition, and a negative effect of politics. Findings also indicate that the negative impact of political behavior on BD success is minimized in the absence of evidence and objective information and when the BD is undertaken through a brand name change. JEL classification: L10, M31, Keywords: Brand deletion, Rational decision-making, Intuitive decision-making, Political decision-making, Brand deletion success

Some analogies between quantum cloning and quantum deleting

International Nuclear Information System (INIS)

Qiu Daowen

2002-01-01

We further verify the impossibility of deleting an arbitrary unknown quantum state, and also show it is impossible to delete two nonorthogonal quantum states as a consequence of unitarity of quantum mechanics. A quantum approximate (deterministic) deleting machine and a probabilistic (exact) deleting machine are constructed. The estimation for the global fidelity characterizing the efficiency of the quantum approximate deleting is given. We then demonstrate that unknown nonorthogonal states chosen from a set with their multiple copies can evolve into a linear superposition of multiple deletions and failure branches by a unitary process if and only if the states are linearly independent. It is notable that the proof for necessity is somewhat different from Pati's [Phys. Rev. Lett. 83, 2849 (1999)]. Another deleting machine for the input states that are unnecessarily linearly independent is also presented. The bounds on the success probabilities of these deleting machines are derived. So we expound some preliminary analogies between quantum cloning and deleting

Thyroid hormones induce browning of white fat

Science.gov (United States)

Martínez-Sánchez, Noelia; Moreno-Navarrete, José M; Contreras, Cristina; Rial-Pensado, Eva; Fernø, Johan; Nogueiras, Rubén; Diéguez, Carlos

2016-01-01

The canonical view about the effect of thyroid hormones (THs) on thermogenesis assumes that the hypothalamus acts merely as a modulator of the sympathetic outflow on brown adipose tissue (BAT). Recent data have challenged that vision by demonstrating that THs act on the ventromedial nucleus of the hypothalamus (VMH) to inhibit AMP-activated protein kinase (AMPK), which regulates the thermogenic program in BAT, leading to increased thermogenesis and weight loss. Current data have shown that in addition to activation of brown fat, the browning of white adipose tissue (WAT) might also be an important thermogenic mechanism. However, the possible central effects of THs on the browning of white fat remain unclear. Here, we show that 3,3′,5,5′ tetraiodothyroxyne (T4)-induced hyperthyroidism promotes a marked browning of WAT. Of note, central or VMH-specific administration of 3,3′,5-triiodothyronine (T3) recapitulates that effect. The specific genetic activation of hypothalamic AMPK in the VMH reversed the central effect of T3 on browning. Finally, we also showed that the expression of browning genes in human WAT correlates with serum T4. Overall, these data indicate that THs induce browning of WAT and that this mechanism is mediated via the central effects of THs on energy balance. PMID:27913573

Tune Your Brown Clustering, Please

DEFF Research Database (Denmark)

Derczynski, Leon; Chester, Sean; Bøgh, Kenneth Sejdenfaden

2015-01-01

Brown clustering, an unsupervised hierarchical clustering technique based on ngram mutual information, has proven useful in many NLP applications. However, most uses of Brown clustering employ the same default configuration; the appropriateness of this configuration has gone predominantly...

UV-Vis-IR spectral complex refractive indices and optical properties of brown carbon aerosol from biomass burning

Science.gov (United States)

Sumlin, Benjamin J.; Heinson, Yuli W.; Shetty, Nishit; Pandey, Apoorva; Pattison, Robert S.; Baker, Stephen; Hao, Wei Min; Chakrabarty, Rajan K.

2018-02-01

Constraining the complex refractive indices, optical properties and size of brown carbon (BrC) aerosols is a vital endeavor for improving climate models and satellite retrieval algorithms. Smoldering wildfires are the largest source of primary BrC, and fuel parameters such as moisture content, source depth, geographic origin, and fuel packing density could influence the properties of the emitted aerosol. We measured in situ spectral (375-1047 nm) optical properties of BrC aerosols emitted from smoldering combustion of Boreal and Indonesian peatlands across a range of these fuel parameters. Inverse Lorenz-Mie algorithms used these optical measurements along with simultaneously measured particle size distributions to retrieve the aerosol complex refractive indices (m = n + iκ). Our results show that the real part n is constrained between 1.5 and 1.7 with no obvious functionality in wavelength (λ), moisture content, source depth, or geographic origin. With increasing λ from 375 to 532 nm, κ decreased from 0.014 to 0.003, with corresponding increase in single scattering albedo (SSA) from 0.93 to 0.99. The spectral variability of κ follows the Kramers-Kronig dispersion relation for a damped harmonic oscillator. For λ ≥ 532 nm, both κ and SSA showed no spectral dependency. We discuss differences between this study and previous work. The imaginary part κ was sensitive to changes in FPD, and we hypothesize mechanisms that might help explain this observation.

Variation in oxalate and oxalate decarboxylase production by six species of brown and white rot fungi

DEFF Research Database (Denmark)

Hastrup, Anne Christine Steenkjær; Oliver, Jason; Howell, Caitlin

  Oxalic acid (C2O4H2), the strongest of the organic acids is produced by both brown and white rot decay fungi and has been connected to various aspects of brown- and white rot decay including the Fenton reaction (Green and Highley, 1997; Munir et al.,2001). Oxalic acid is secreted into the wood...... cell lumen where it quickly dissociates into hydrogen ions and oxalate, resulting in a pH decrease of the environment, and oxalate-cation complexes. Generally, brown rot fungi accumulate larger quantities of oxalic acid in the wood than white rot fungi. The amount of oxalic acid has been shown to vary...... of formic acid and CO2 (Makela et al., 2002). So far only a few species of brown rot fungi have been shown to accumulate this enzyme (Micales, 1995, Howell and Jellison, 2006).   The purpose of this study was to investigate the variation in the levels of soluble oxalate and total oxalate, in correlation...

EVALUATION OF CARDIOLOGIC FUNCTIONS IN CAPTIVE EURASIAN BROWN BEARS (URSUS ARCTOS ARCTOS) IN TURKEY.

Science.gov (United States)

Cihan, Huseyin; Yilmaz, Zeki; Aytug, Nilufer

2016-03-01

The aim of this study was to evaluate the cardiac functions in healthy Eurasian brown bears (Ursus arctos arctos) living in a seminatural area during their active season. Twelve clinically healthy brown bears were selected based on their normal physical examination, hematologic, and serum biochemistry results. These bears were divided into two groups based on age; subadult (bears. Notching of QRS complexes and peaked T wave were also observed in both groups. Left ventricular diameter at systole and diastole in adult bears was wider (P bears. Subadult bears had reduced aortic diameter compared to adult bears (P bears.

Probabilistic cloning and deleting of quantum states

International Nuclear Information System (INIS)

Feng Yuan; Zhang Shengyu; Ying Mingsheng

2002-01-01

We construct a probabilistic cloning and deleting machine which, taking several copies of an input quantum state, can output a linear superposition of multiple cloning and deleting states. Since the machine can perform cloning and deleting in a single unitary evolution, the probabilistic cloning and other cloning machines proposed in the previous literature can be thought of as special cases of our machine. A sufficient and necessary condition for successful cloning and deleting is presented, and it requires that the copies of an arbitrarily presumed number of the input states are linearly independent. This simply generalizes some results for cloning. We also derive an upper bound for the success probability of the cloning and deleting machine

46 CFR 67.171 - Deletion; requirement and procedure.

Science.gov (United States)

2010-10-01

... 46 Shipping 2 2010-10-01 2010-10-01 false Deletion; requirement and procedure. 67.171 Section 67...; Requirement for Exchange, Replacement, Deletion, Cancellation § 67.171 Deletion; requirement and procedure. (a... provided in § 67.161, and the vessel is subject to deletion from the roll of actively documented vessels...

Pivotal Role of O-GlcNAc Modification in Cold-Induced Thermogenesis by Brown Adipose Tissue Through Mitochondrial Biogenesis.

Science.gov (United States)

Ohashi, Natsuko; Morino, Katsutaro; Ida, Shogo; Sekine, Osamu; Lemecha, Mengistu; Kume, Shinji; Park, Shi-Young; Choi, Cheol Soo; Ugi, Satoshi; Maegawa, Hiroshi

2017-09-01

Adipose tissues considerably influence metabolic homeostasis, and both white (WAT) and brown (BAT) adipose tissue play significant roles in lipid and glucose metabolism. O -linked N -acetylglucosamine ( O -GlcNAc) modification is characterized by the addition of N -acetylglucosamine to various proteins by O -GlcNAc transferase (Ogt), subsequently modulating various cellular processes. However, little is known about the role of O -GlcNAc modification in adipose tissues. Here, we report the critical role of O -GlcNAc modification in cold-induced thermogenesis. Deletion of Ogt in WAT and BAT using adiponectin promoter-driven Cre recombinase resulted in severe cold intolerance with decreased uncoupling protein 1 (Ucp1) expression. Furthermore, Ogt deletion led to decreased mitochondrial protein expression in conjunction with decreased peroxisome proliferator-activated receptor γ coactivator 1-α protein expression. This phenotype was further confirmed by deletion of Ogt in BAT using Ucp1 promoter-driven Cre recombinase, suggesting that O -GlcNAc modification in BAT is responsible for cold-induced thermogenesis. Hypothermia was significant under fasting conditions. This effect was mitigated after normal diet consumption but not after consumption of a fatty acid-rich ketogenic diet lacking carbohydrates, suggesting impaired diet-induced thermogenesis, particularly by fat. In conclusion, O -GlcNAc modification is essential for cold-induced thermogenesis and mitochondrial biogenesis in BAT. Glucose flux into BAT may be a signal to maintain BAT physiological responses. © 2017 by the American Diabetes Association.

Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects.

Science.gov (United States)

Hassan, Maaz; Butler, Merlin G

2016-11-01

We report a 20 year follow up on a Caucasian female, now 26 years of age, with Prader-Willi syndrome (PWS) harboring an atypical 15q11-q13 submicroscopic deletion of 100-200 kb in size first detected in 1996 involving the imprinting center, SNRPN gene and surrounding region. PWS is a rare complex disorder caused by the loss of paternally expressed genes in the 15q11-q13 region. With high resolution chromosomal microarray and methylation - specific MLPA analysis, we updated the genetic findings on our patient and found a 209,819bp deletion including the SNURF-SNRPN gene complex which includes the imprinting center and the SNORD116 region. We compared with four other similarly reported individuals in the literature with atypical submicroscopic deletions within this region but without imprinting center involvement to better characterize the specific genetic lesions causing PWS clinical findings. Clinically, our patient met the diagnostic criteria of PWS including infantile hypotonia, a poor suck with feeding difficulties, global developmental delays and later food foraging, childhood obesity, small hands and skin picking. Small atypical deletions of comparable sizes were seen in the 15q11-q13 region in all five cases and similar behavioral/physical characteristics were found despite an imprinting defect in our patient. These results further support an overlapping critical deletion region involving the non-coding snoRNA SNORD116 in common in the five individuals playing a key role in contributing to the PWS phenotype. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Alteration in Lignin Biosynthesis Restricts Growth of Fusarium Species in Brown Midrib Sorghum

Science.gov (United States)

To improve sorghum for bioenergy and forage uses, brown midrib6 (bmr6) and bmr12 near-isogenic genotypes were developed in different sorghum backgrounds. bmr6 and bmr12 grain had significantly reduced colonization by members of the Gibberella fujikuroi species complex, compared with wild-type, as de...

Influence of selected factors on browning of Camembert cheese.

Science.gov (United States)

Carreira, Alexandra; Dillinger, Klaus; Eliskases-Lechner, Frieda; Loureiro, Virgílio; Ginzinger, Wolfgang; Rohm, Harald

2002-05-01

Experimental Camembert cheeses were made to investigate the effects on browning of the following factors: inoculation with Yarrowia lipolytica, the use of Penicillium candidum strains with different proteolytic activity, the addition of tyrosine, and the addition of Mn2+ thus leading to 16 different variants of cheese. Two physical colour parameters were used to describe browning, depending on the location in the cheeses: a whiteness index for the outside browning (mould mycelium), and a brownness index for the inside browning (surface of the cheese body). Mn2+ promoted a significant increase of browning at both locations, whereas Yar. lipolytica had the opposite effect. Outside browning was significantly more intense when using the Pen. candidum strain with higher proteolytic activity. A significant interaction was found between Yar. lipolytica and Pen. candidum. The yeast had no effect in combination with a low proteolytic strain of Pen. candidum, but significantly reduced proteolysis and browning in combination with a high proteolytic strain of Pen. candidum. We further confirmed that both strains of Pen. candidum were able to produce brown pigments from tyrosine and thus both are presumably responsible for the browning activity in this type of cheese.

On Deletion of Sutra Translation

Institute of Scientific and Technical Information of China (English)

CHEN Shu-juan

2017-01-01

Dao An's the metaphor of translation "wine diluted with water' ' expressed a view about translation that had been abridged.Later Kumarajiva provided metaphor "rice chewed—tasteless and downright disgusting".Both of them felt regretted at the weakening of taste,sometimes even the complete loss of flavor caused by deletion in translation of Buddhist sutras.In early sutra translation,deletion is unavoidable which made many sutra translators felt confused and drove them to study it further and some even managed to give their understanding to this issue.This thesis will discuss the definition,and what causes deletion and the measures adopted by the sutra translators.

Brown coal gasification made easy

International Nuclear Information System (INIS)

Hamilton, Chris

2006-01-01

Few Victorians will be aware that gas derived from coal was first used in 1849 to provide lighting in a baker's shop in Swanston Street, long before electric lighting came to the State. The first commercial 'gas works' came on stream in 1856 and Melbourne then had street lighting run on gas. By 1892 there were 50 such gas works across the State. Virtually all were fed with black coal imported from New South Wales. Brown coal was first discovered west of Melbourne in 1857, and the Latrobe Valley deposits were identified in the early 1870s. Unfortunately, such wet brown coal did not suit the gas works. Various attempts to commercialise Victorian brown coal met with mixed success as it struggled to compete with imported New South Wales black coal. In June 1924 Yallourn A transmitted the first electric power to Melbourne, and thus began the Latrobe Valley's long association with generating electric power from brown coal. Around 1950, the Metropolitan Gas Company applied for financial assistance to build a towns gas plant using imported German gasification technology which had been originally designed for a brown coal briquette feed. The State Government promptly acquired the company and formed the Gas and Fuel Corporation. The Morwell Gasification Plant was opened on 9 December 1956 and began supplying Melbourne with medium heating value towns gas

Deletions of the long arm of chromosome 5 define subgroups of T-cell acute lymphoblastic leukemia.

Science.gov (United States)

La Starza, Roberta; Barba, Gianluca; Demeyer, Sofie; Pierini, Valentina; Di Giacomo, Danika; Gianfelici, Valentina; Schwab, Claire; Matteucci, Caterina; Vicente, Carmen; Cools, Jan; Messina, Monica; Crescenzi, Barbara; Chiaretti, Sabina; Foà, Robin; Basso, Giuseppe; Harrison, Christine J; Mecucci, Cristina

2016-08-01

Recurrent deletions of the long arm of chromosome 5 were detected in 23/200 cases of T-cell acute lymphoblastic leukemia. Genomic studies identified two types of deletions: interstitial and terminal. Interstitial 5q deletions, found in five cases, were present in both adults and children with a female predominance (chi-square, P=0.012). Interestingly, these cases resembled immature/early T-cell precursor acute lymphoblastic leukemia showing significant down-regulation of five out of the ten top differentially expressed genes in this leukemia group, including TCF7 which maps within the 5q31 common deleted region. Mutations of genes known to be associated with immature/early T-cell precursor acute lymphoblastic leukemia, i.e. WT1, ETV6, JAK1, JAK3, and RUNX1, were present, while CDKN2A/B deletions/mutations were never detected. All patients had relapsed/resistant disease and blasts showed an early differentiation arrest with expression of myeloid markers. Terminal 5q deletions, found in 18 of patients, were more prevalent in adults (chi-square, P=0.010) and defined a subgroup of HOXA-positive T-cell acute lymphoblastic leukemia characterized by 130 up- and 197 down-regulated genes. Down-regulated genes included TRIM41, ZFP62, MAPK9, MGAT1, and CNOT6, all mapping within the 1.4 Mb common deleted region at 5q35.3. Of interest, besides CNOT6 down-regulation, these cases also showed low BTG1 expression and a high incidence of CNOT3 mutations, suggesting that the CCR4-NOT complex plays a crucial role in the pathogenesis of HOXA-positive T-cell acute lymphoblastic leukemia with terminal 5q deletions. In conclusion, interstitial and terminal 5q deletions are recurrent genomic losses identifying distinct subtypes of T-cell acute lymphoblastic leukemia. Copyright© Ferrata Storti Foundation.

Genome-Wide Spectra of Transcription Insertions and Deletions Reveal That Slippage Depends on RNA:DNA Hybrid Complementarity.

Science.gov (United States)

Traverse, Charles C; Ochman, Howard

2017-08-29

Advances in sequencing technologies have enabled direct quantification of genome-wide errors that occur during RNA transcription. These errors occur at rates that are orders of magnitude higher than rates during DNA replication, but due to technical difficulties such measurements have been limited to single-base substitutions and have not yet quantified the scope of transcription insertions and deletions. Previous reporter gene assay findings suggested that transcription indels are produced exclusively by elongation complex slippage at homopolymeric runs, so we enumerated indels across the protein-coding transcriptomes of Escherichia coli and Buchnera aphidicola , which differ widely in their genomic base compositions and incidence of repeat regions. As anticipated from prior assays, transcription insertions prevailed in homopolymeric runs of A and T; however, transcription deletions arose in much more complex sequences and were rarely associated with homopolymeric runs. By reconstructing the relocated positions of the elongation complex as inferred from the sequences inserted or deleted during transcription, we show that continuation of transcription after slippage hinges on the degree of nucleotide complementarity within the RNA:DNA hybrid at the new DNA template location. IMPORTANCE The high level of mistakes generated during transcription can result in the accumulation of malfunctioning and misfolded proteins which can alter global gene regulation and in the expenditure of energy to degrade these nonfunctional proteins. The transcriptome-wide occurrence of base substitutions has been elucidated in bacteria, but information on transcription insertions and deletions-errors that potentially have more dire effects on protein function-is limited to reporter gene constructs. Here, we capture the transcriptome-wide spectrum of insertions and deletions in Escherichia coli and Buchnera aphidicola and show that they occur at rates approaching those of base substitutions

Utilization of deletion bins to anchor and order sequences along the wheat 7B chromosome.

Science.gov (United States)

Belova, Tatiana; Grønvold, Lars; Kumar, Ajay; Kianian, Shahryar; He, Xinyao; Lillemo, Morten; Springer, Nathan M; Lien, Sigbjørn; Olsen, Odd-Arne; Sandve, Simen R

2014-09-01

A total of 3,671 sequence contigs and scaffolds were mapped to deletion bins on wheat chromosome 7B providing a foundation for developing high-resolution integrated physical map for this chromosome. Bread wheat (Triticum aestivum L.) has a large, complex and highly repetitive genome which is challenging to assemble into high quality pseudo-chromosomes. As part of the international effort to sequence the hexaploid bread wheat genome by the international wheat genome sequencing consortium (IWGSC) we are focused on assembling a reference sequence for chromosome 7B. The successful completion of the reference chromosome sequence is highly dependent on the integration of genetic and physical maps. To aid the integration of these two types of maps, we have constructed a high-density deletion bin map of chromosome 7B. Using the 270 K Nimblegen comparative genomic hybridization (CGH) array on a set of cv. Chinese spring deletion lines, a total of 3,671 sequence contigs and scaffolds (~7.8 % of chromosome 7B physical length) were mapped into nine deletion bins. Our method of genotyping deletions on chromosome 7B relied on a model-based clustering algorithm (Mclust) to accurately predict the presence or absence of a given genomic sequence in a deletion line. The bin mapping results were validated using three different approaches, viz. (a) PCR-based amplification of randomly selected bin mapped sequences (b) comparison with previously mapped ESTs and (c) comparison with a 7B genetic map developed in the present study. Validation of the bin mapping results suggested a high accuracy of the assignment of 7B sequence contigs and scaffolds to the 7B deletion bins.

A strong deletion bias in nonallelic gene conversion.

Directory of Open Access Journals (Sweden)

Raquel Assis

Full Text Available Gene conversion is the unidirectional transfer of genetic information between orthologous (allelic or paralogous (nonallelic genomic segments. Though a number of studies have examined nucleotide replacements, little is known about length difference mutations produced by gene conversion. Here, we investigate insertions and deletions produced by nonallelic gene conversion in 338 Drosophila and 10,149 primate paralogs. Using a direct phylogenetic approach, we identify 179 insertions and 614 deletions in Drosophila paralogs, and 132 insertions and 455 deletions in primate paralogs. Thus, nonallelic gene conversion is strongly deletion-biased in both lineages, with almost 3.5 times as many conversion-induced deletions as insertions. In primates, the deletion bias is considerably stronger for long indels and, in both lineages, the per-site rate of gene conversion is orders of magnitudes higher than that of ordinary mutation. Due to this high rate, deletion-biased nonallelic gene conversion plays a key role in genome size evolution, leading to the cooperative shrinkage and eventual disappearance of selectively neutral paralogs.

Characterization of five partial deletions of the factor VIII gene

International Nuclear Information System (INIS)

Youssoufian, H.; Antonarakis, S.E.; Aronis, S.; Tsiftis, G.; Phillips, D.G.; Kazazian, H.H. Jr.

1987-01-01

Hemophilia A is an X-linked disorder of coagulation caused by a deficiency of factor VIII. By using cloned DNA probes, the authors have characterized the following five different partial deletions of the factor VIII gene from a panel of 83 patients with hemophilia A: (i) a 7-kilobase (kb) deletion that eliminates exon 6; (ii) a 2.5-kb deletion that eliminates 5' sequences of exon 14; (iii) a deletion of at least 7 kb that eliminates exons 24 and 25; (iv) a deletion of at least 16 kb that eliminates exons 23-25; and (v) a 5.5-kb deletion that eliminates exon 22. The first four deletions are associated with severe hemophilia A. By contrast, the last deletion is associated with moderate disease, possibly because of in-frame splicing from adjacent exons. None of those patients with partial gene deletions had circulating inhibitors to factor VIII. One deletion occurred de novo in a germ cell of the maternal grandmother, while a second deletion occurred in a germ cell of the maternal grandfather. These observations demonstrate that de novo deletions of X-linked genes can occur in either male or female gametes

Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome.

Science.gov (United States)

Bieth, Eric; Eddiry, Sanaa; Gaston, Véronique; Lorenzini, Françoise; Buffet, Alexandre; Conte Auriol, Françoise; Molinas, Catherine; Cailley, Dorothée; Rooryck, Caroline; Arveiler, Benoit; Cavaillé, Jérome; Salles, Jean Pierre; Tauber, Maïthé

2015-02-01

The SNORD116 locus lies in the 15q11-13 region of paternally expressed genes implicated in Prader-Willi Syndrome (PWS), a complex disease accompanied by obesity and severe neurobehavioural disturbances. Cases of PWS patients with a deletion encompassing the SNORD116 gene cluster, but preserving the expression of flanking genes, have been described. We report a 23-year-old woman who presented clinical criteria of PWS, including the behavioural and nutritional features, obesity, developmental delay and endocrine dysfunctions with hyperghrelinemia. We found a paternally transmitted highly restricted deletion of the SNORD116 gene cluster, the shortest described to date (118 kb). This deletion was also present in the father. This finding in a human case strongly supports the current hypothesis that lack of the paternal SNORD116 gene cluster has a determinant role in the pathogenesis of PWS. Moreover, targeted analysis of the SNORD116 gene cluster, complementary to SNRPN methylation analysis, should be carried out in subjects with a phenotype suggestive of PWS.

In vivo immunologic selection of class I major histocompatibility complex gene deletion variants from the B16-BL6 melanoma.

Science.gov (United States)

Talmadge, J E; Talmadge, C B; Zbar, B; McEwen, R; Meeker, A K; Tribble, H

1987-06-01

The mechanism by which tumor allografts escape host immunologic attack was investigated. B16-BL6 cells (the bladder 6 subline of the B16 melanoma) (H-2b) were transfected with a gene (Dd) encoding an allogeneic class I major histocompatibility complex antigen. Clones that expressed Dd antigen were injected into the footpads of nonimmune syngeneic mice, syngeneic immune mice, and nude mice. Under conditions of immunologic selection a clone that contained multiple copies of the transfected gene formed variants that lacked the transfected gene. Primary tumors and pulmonary metastases of immunized mice and pulmonary metastases of nonimmunized mice had lost the Dd gene and, in most cases, all of the associated plasmid. In contrast, in immunodeficient nude mice, primary tumors and pulmonary metastases retained the Dd gene and the associated plasmid. Deletion of genes encoding cell surface antigens may be one of the mechanisms by which allogeneic tumors escape immunologic attack.

76 FR 5142 - Procurement List; Additions and Deletion

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2011-01-28

... and Deletion AGENCY: Committee for Purchase From People Who Are Blind or Severely Disabled. ACTION: Additions to and deletion from the Procurement List. SUMMARY: This action adds services to the Procurement.... Contracting Activity: Department of Transportation, Federal Aviation Administration, Jamaica, NY. Deletion On...

SHANK1 Deletions in Males with Autism Spectrum Disorder.

Science.gov (United States)

Sato, Daisuke; Lionel, Anath C; Leblond, Claire S; Prasad, Aparna; Pinto, Dalila; Walker, Susan; O'Connor, Irene; Russell, Carolyn; Drmic, Irene E; Hamdan, Fadi F; Michaud, Jacques L; Endris, Volker; Roeth, Ralph; Delorme, Richard; Huguet, Guillaume; Leboyer, Marion; Rastam, Maria; Gillberg, Christopher; Lathrop, Mark; Stavropoulos, Dimitri J; Anagnostou, Evdokia; Weksberg, Rosanna; Fombonne, Eric; Zwaigenbaum, Lonnie; Fernandez, Bridget A; Roberts, Wendy; Rappold, Gudrun A; Marshall, Christian R; Bourgeron, Thomas; Szatmari, Peter; Scherer, Stephen W

2012-05-04

Recent studies have highlighted the involvement of rare (number variations and point mutations in the genetic etiology of autism spectrum disorder (ASD); these variants particularly affect genes involved in the neuronal synaptic complex. The SHANK gene family consists of three members (SHANK1, SHANK2, and SHANK3), which encode scaffolding proteins required for the proper formation and function of neuronal synapses. Although SHANK2 and SHANK3 mutations have been implicated in ASD and intellectual disability, the involvement of SHANK1 is unknown. Here, we assess microarray data from 1,158 Canadian and 456 European individuals with ASD to discover microdeletions at the SHANK1 locus on chromosome 19. We identify a hemizygous SHANK1 deletion that segregates in a four-generation family in which male carriers--but not female carriers--have ASD with higher functioning. A de novo SHANK1 deletion was also detected in an unrelated male individual with ASD with higher functioning, and no equivalent SHANK1 mutations were found in >15,000 controls (p = 0.009). The discovery of apparent reduced penetrance of ASD in females bearing inherited autosomal SHANK1 deletions provides a possible contributory model for the male gender bias in autism. The data are also informative for clinical-genetics interpretations of both inherited and sporadic forms of ASD involving SHANK1. Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Generalised Brown Clustering and Roll-up Feature Generation

DEFF Research Database (Denmark)

Derczynski, Leon; Chester, Sean

2016-01-01

active set size. Moreover, the generalisation permits a novel approach to feature selection from Brown clusters: We show that the standard approach of shearing the Brown clustering output tree at arbitrary bitlengths is lossy and that features should be chosen instead by rolling up Generalised Brown...

Deletion 22q13.3 syndrome

Directory of Open Access Journals (Sweden)

Phelan Mary C

2008-05-01

Full Text Available Abstract The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. The deletion occurs with equal frequency in males and females and has been reported in mosaic and non-mosaic forms. Due to lack of clinical recognition and often insufficient laboratory testing, the syndrome is under-diagnosed and its true incidence remains unknown. Common physical traits include long eye lashes, large or unusual ears, relatively large hands, dysplastic toenails, full brow, dolicocephaly, full cheeks, bulbous nose, and pointed chin. Behavior is autistic-like with decreased perception of pain and habitual chewing or mouthing. The loss of 22q13.3 can result from simple deletion, translocation, ring chromosome formation and less common structural changes affecting the long arm of chromosome 22, specifically the region containing the SHANK3 gene. The diagnosis of deletion 22q13 syndrome should be considered in all cases of hypotonia of unknown etiology and in individuals with absent speech. Although the deletion can sometimes be detected by high resolution chromosome analysis, fluorescence in situ hybridization (FISH or array comparative genomic hybridization (CGH is recommended for confirmation. Differential diagnosis includes syndromes associated with hypotonia, developmental delay, speech delay and/or autistic-like affect (Prader-Willi, Angelman, Williams, Smith-Magenis, Fragile X, Sotos, FG, trichorhinophalangeal and velocardiofacial syndromes, autism spectrum disorders, cerebral palsy. Genetic counseling is recommended and parental laboratory studies should be considered to identify cryptic rearrangements and detect parental mosaicism. Prenatal diagnosis should be offered for future pregnancies in those families with inherited rearrangements

Searching for chemical signatures of brown dwarf formation

Science.gov (United States)

Maldonado, J.; Villaver, E.

2017-06-01

Context. Recent studies have shown that close-in brown dwarfs in the mass range 35-55 MJup are almost depleted as companions to stars, suggesting that objects with masses above and below this gap might have different formation mechanisms. Aims: We aim to test whether stars harbouring massive brown dwarfs and stars with low-mass brown dwarfs show any chemical peculiarity that could be related to different formation processes. Methods: Our methodology is based on the analysis of high-resolution échelle spectra (R 57 000) from 2-3 m class telescopes. We determine the fundamental stellar parameters, as well as individual abundances of C, O, Na, Mg, Al, Si, S, Ca, Sc, Ti, V, Cr, Mn, Co, Ni, and Zn for a large sample of stars known to have a substellar companion in the brown dwarf regime. The sample is divided into stars hosting massive and low-mass brown dwarfs. Following previous works, a threshold of 42.5 MJup was considered. The metallicity and abundance trends of the two subsamples are compared and set in the context of current models of planetary and brown dwarf formation. Results: Our results confirm that stars with brown dwarf companions do not follow the well-established gas-giant planet metallicity correlation seen in main-sequence planet hosts. Stars harbouring massive brown dwarfs show similar metallicity and abundance distribution as stars without known planets or with low-mass planets. We find a tendency of stars harbouring less-massive brown dwarfs of having slightly higher metallicity, [XFe/Fe] values, and abundances of Sc II, Mn I, and Ni I than the stars having the massive brown dwarfs. The data suggest, as previously reported, that massive and low-mass brown dwarfs might present differences in period and eccentricity. Conclusions: We find evidence of a non-metallicity dependent mechanism for the formation of massive brown dwarfs. Our results agree with a scenario in which massive brown dwarfs are formed as stars. At high metallicities, the core

78 FR 29119 - Procurement List; Additions and Deletion

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2013-05-17

... and Deletion AGENCY: Committee for Purchase From People Who Are Blind or Severely Disabled. ACTION: Additions to and Deletion from the Procurement List. SUMMARY: This action adds products and services to the... Activity: Washington Headquarters Services (WHS), Acquisition Directorate, Washington, DC. Deletion On 4/5...

Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome

Science.gov (United States)

Cheung, Evelyn Ning Man; George, Susan R.; Andrade, Danielle M.; Chow, Eva W. C.; Silversides, Candice K.; Bassett, Anne S.

2015-01-01

Purpose Hypocalcemia is a common endocrinological condition in 22q11.2 deletion syndrome. Neonatal hypocalcemia may affect neurodevelopment. We hypothesized that neonatal hypocalcemia would be associated with rare, more severe forms of intellectual disability in 22q11.2 deletion syndrome. Methods We used a logistic regression model to investigate potential predictors of intellectual disability severity, including neonatal hypocalcemia, neonatal seizures, and complex congenital heart disease, e.g., interrupted aortic arch, in 149 adults with 22q11.2 deletion syndrome. Ten subjects had moderate-to-severe intellectual disability. Results The model was highly significant (P < 0.0001), showing neonatal seizures (P = 0.0018) and neonatal hypocalcemia (P = 0.047) to be significant predictors of a more severe level of intellectual disability. Neonatal seizures were significantly associated with neonatal hypocalcemia in the entire sample (P < 0.0001), regardless of intellectual level. There was no evidence for the association of moderate- to-severe intellectual disability with other factors such as major structural brain malformations in this sample. Conclusion The results suggest that neonatal seizures may increase the risk for more severe intellectual deficits in 22q11.2 deletion syndrome, likely mediated by neonatal hypocalcemia. Neonatal hypocalcemia often remains unrecognized until the postseizure period, when damage to neurons may already have occurred. These findings support the importance of early recognition and treatment of neonatal hypocalcemia and potentially neonatal screening for 22q11.2 deletions. PMID:23765047

L-rhamnose induces browning in 3T3-L1 white adipocytes and activates HIB1B brown adipocytes.

Science.gov (United States)

Choi, Minji; Mukherjee, Sulagna; Kang, Nam Hyeon; Barkat, Jameel Lone; Parray, Hilal Ahmad; Yun, Jong Won

2018-04-11

Induction of the brown adipocyte-like phenotype in white adipocytes (browning) is considered as a novel strategy to fight obesity due to the ability of brown adipocytes to increase energy expenditure. Here, we report that L-rhamnose induced browning by elevating expression levels of beige-specific marker genes, including Cd137, Cited1, Tbx1, Prdm16, Tmem26, and Ucp1, in 3T3-L1 adipocytes. Moreover, L-rhamnose markedly elevated expression levels of proteins involved in thermogenesis both in 3T3-L1 white and HIB1B brown adipocytes. L-rhamnose treatment in 3T3-L1 adipocytes also significantly elevated protein levels of p-HSL, p-AMPK, ACOX, and CPT1 as well as reduced levels of ACC, FAS, C/EBPα, and PPARγ, suggesting its possible role in enhancement of lipolysis and lipid catabolism as well as reduced adipogenesis and lipogenesis, respectively. The quick technique of efficient molecular docking provided insight into the strong binding of L-rhamnose to the fat-digesting glycine residue of β 3 -adrenergic receptor (AR), indicating strong involvement of L-rhamnose in fat metabolism. Further examination of the molecular mechanism of L-rhamnose revealed that it induced browning of 3T3-L1 adipocytes via coordination of multiple signaling pathways through β 3 -AR, SIRT1, PKA, and p-38. To the best of our knowledge, this is the first study to demonstrate that L-rhamnose plays multiple modulatory roles in the induction of white fat browning, activation of brown adipocytes, as well as promotion of lipid metabolism, thereby demonstrating its therapeutic potential for treatment of obesity. © 2018 IUBMB Life, 2018. © 2018 International Union of Biochemistry and Molecular Biology.

44 CFR 5.27 - Deletion of identifying details.

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2010-10-01

... 44 Emergency Management and Assistance 1 2010-10-01 2010-10-01 false Deletion of identifying... Availability of General Agency Information, Rules, Orders, Policies, and Similar Material § 5.27 Deletion of..., interpretation, or staff manual or instruction. However, the justification for each deletion will be explained...

Characteristics of Color Development in Seeds of Brown- and Yellow-Seeded Heading Chinese Cabbage and Molecular Analysis of Brsc, the Candidate Gene Controlling Seed Coat Color.

Science.gov (United States)

Ren, Yanjing; He, Qiong; Ma, Xiaomin; Zhang, Lugang

2017-01-01

The proanthocyanidin (PA) is the main flavonoids which affect the seed coat color in Brassica species. In this paper, characteristics of color development and accumulation of flavonoids were analyzed in the seeds of brown-seeded (B147) and yellow-seeded (B80) heading Chinese cabbage ( Brassica rapa L. ssp. Pekinensis ). It is found that the content of phenolic compounds in B147 were significantly more than that of B80 by using dimethylaminocinnamaldehyde (DMACA) staining and toluidine blue O (TBO) staining. In previous studies, the locus associated with seed coat color has been mapped. The results of whole genome re-sequencing showed that there are large fragment deletions variation in the mapping region between the brown-seeded parent '92S105' and the yellow-seeded parent '91-125.' Based on the B. rapa genome annotation information, the TRANSPARENT TESTA GLABRA 1 ( TTG1 ), is likely to be the candidate gene controlling seed coat color. A 94-base deletion was found in the 96th base downstream of the initiation codon in the TTG1 of yellow seed, thus, the termination codon TGA was occurred in the 297th base which makes the full length of TTG1 of yellow seed is 300 bp. Based on the differential sequences of TTG1 of brown and yellow seed, a functional marker, Brsc-yettg1, was developed to detect the variation of TTG1 . Quantitative real-time PCR analysis of BrTTG1 in different tissues showed that expression levels of BrTTG1 was not tissue-specific. During the whole seed development period, the expression of BrTTG1 in B147 was higher than that of B80. The expression levels of four structural genes, BrDFR, BrANS, BrANR1 , and BrANR2 in B147 were also higher than those in B80. The co-segregation molecular markers obtained in this report and TTG1 related information provide a basis for further understanding of the molecular mechanism of seed coat color in heading Chinese cabbage.

19 CFR 142.49 - Deletion of C-4 Code.

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2010-04-01

.... Entry filers may delete C-4 Codes from Line Release by notifying the port director in writing on a Deletion Data Loading Sheet. Such notification shall state the C-4 Code which is to be deleted, the port... TREASURY (CONTINUED) ENTRY PROCESS Line Release § 142.49 Deletion of C-4 Code. (a) By Customs. A port...

5 CFR 2502.18 - Deletion of exempted information.

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2010-01-01

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78 FR 75912 - Procurement List; Addition and Deletion

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2013-12-13

... and Deletion AGENCY: Committee for Purchase From People Who Are Blind or Severely Disabled. ACTION: Addition to and deletion from the Procurement List. SUMMARY: This action adds a service to the Procurement...: General Services Administration, Fort Worth, TX Deletion On 11/1/2013 (78 FR 65618), the Committee for...

Isolation of glycoproteins from brown algae

DEFF Research Database (Denmark)

2015-01-01

The present invention relates to a novel process for the isolation of unique anti-oxidative glycoproteins from the pH precipitated fractions of enzymatic extracts of brown algae. Two brown seaweeds viz, Fucus serratus and Fucus vesiculosus were hydrolysed by using 3 enzymes viz, Alcalase, Viscozyme...

Trustworthy-looking face meets brown eyes.

Directory of Open Access Journals (Sweden)

Karel Kleisner

Full Text Available We tested whether eye color influences perception of trustworthiness. Facial photographs of 40 female and 40 male students were rated for perceived trustworthiness. Eye color had a significant effect, the brown-eyed faces being perceived as more trustworthy than the blue-eyed ones. Geometric morphometrics, however, revealed significant correlations between eye color and face shape. Thus, face shape likewise had a significant effect on perceived trustworthiness but only for male faces, the effect for female faces not being significant. To determine whether perception of trustworthiness was being influenced primarily by eye color or by face shape, we recolored the eyes on the same male facial photos and repeated the test procedure. Eye color now had no effect on perceived trustworthiness. We concluded that although the brown-eyed faces were perceived as more trustworthy than the blue-eyed ones, it was not brown eye color per se that caused the stronger perception of trustworthiness but rather the facial features associated with brown eyes.

5 CFR 1631.17 - Deletion of exempted information.

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2010-01-01

... 5 Administrative Personnel 3 2010-01-01 2010-01-01 false Deletion of exempted information. 1631.17... Deletion of exempted information. Where requested records contain matters which are exempted under 5 U.S.C... disclosed by the Board with deletions. To each such record, the Board shall attach a written justification...

78 FR 27369 - Procurement List; Additions and Deletion

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2013-05-10

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49 CFR 7.6 - Deletion of identifying detail.

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2010-10-01

... 49 Transportation 1 2010-10-01 2010-10-01 false Deletion of identifying detail. 7.6 Section 7.6... To Be Made Public by DOT § 7.6 Deletion of identifying detail. Whenever it is determined to be... the deletion will accompany the record published or made available for inspection. ...

Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.

Science.gov (United States)

Flipsen-ten Berg, Klara; van Hasselt, Peter M; Eleveld, Marc J; van der Wijst, Suzanne E; Hol, Frans A; de Vroede, Monique A M; Beemer, Frits A; Hochstenbach, P F Ron; Poot, Martin

2007-11-01

The Wolf-Hirschhorn syndrome (WHS (MIM 194190)), which is characterized by growth delay, mental retardation, epilepsy, facial dysmorphisms, and midline fusion defects, shows extensive phenotypic variability. Several of the proposed mutational and epigenetic mechanisms in this and other chromosomal deletion syndromes fail to explain the observed phenotypic variability. To explain the complex phenotype of a patient with WHS and features reminiscent of Wolfram syndrome (WFS (MIM 222300)), we performed extensive clinical evaluation and classical and molecular cytogenetic (GTG banding, FISH and array-CGH) and WFS1 gene mutation analyses. We detected an 8.3 Mb terminal deletion and an adjacent 2.6 Mb inverted duplication in the short arm of chromosome 4, which encompasses a gene associated with WFS (WFS1). In addition, a nonsense mutation in exon 8 of the WFS1 gene was found on the structurally normal chromosome 4. The combination of the 4p deletion with the WFS1 point mutation explains the complex phenotype presented by our patient. This case further illustrates that unmasking of hemizygous recessive mutations by chromosomal deletions represents an additional explanation for the phenotypic variability observed in chromosomal deletion disorders.

Subgroup complexes

CERN Document Server

Smith, Stephen D

2011-01-01

This book is intended as an overview of a research area that combines geometries for groups (such as Tits buildings and generalizations), topological aspects of simplicial complexes from p-subgroups of a group (in the spirit of Brown, Quillen, and Webb), and combinatorics of partially ordered sets. The material is intended to serve as an advanced graduate-level text and partly as a general reference on the research area. The treatment offers optional tracks for the reader interested in buildings, geometries for sporadic simple groups, and G-equivariant equivalences and homology for subgroup complexes.

Síndrome de Brown inflamatória: relato de caso Inflammatory Brown syndrome: case report

Directory of Open Access Journals (Sweden)

Leonardo Guedes Candido Marculino

2010-08-01

Full Text Available A síndrome de Brown enquadra-se no grupo de estrabismos restritivos e é causada pela limitação de movimento do tendão do oblíquo superior através da tróclea. Caracteriza-se por ortotropia ou hipotropia na primária do olhar, limitação ou ausência de elevação em adução, frequente depressão do olho em adução com anisotropia em V e dução passiva positiva na elevação em adução. Denomina-se síndrome de Brown inflamatória, o distúrbio secundário, que tem como principais causas inflamações locais na órbita e doenças inflamatórias como artrite reumatóide e tenossinovite. Apresentamos o caso de um paciente de 44 anos, do sexo masculino, com queixa de diplopia binocular vertical à dextroversão recorrente. Diagnosticado como síndrome de Brown inflamatória sem etiologia definida, confirmada por ressonância nuclear magnética e com resolução espontânea.Brown syndrome fits the group of restrictive strabismus and is caused by a movement limitation of the superior oblique tendon through the trochlea. It is characterized by parallelism in the primary gaze position, limitation or absence of elevation in adduction, frequent depression of the eye in adduction with anisotropy in V-pattern and positive passive duction in the elevation in adduction. It is called inflammatory Brown syndrome, a secondary disorder, which main causes are local inflammation in the orbit and inflammatory diseases such as rheumatoid arthritis and tenosynovitis. A case of a 44 year-old patient, male, complaining of binocular vertical diplopia due to recurring dextroversion is reported. It was diagnosed as inflammatory Brown syndrome of uncertain etiology, confirmed by magnetic nuclear resonance, and with spontaneous resolution.

A Comparative Study of Quantum and Classical Deletion

International Nuclear Information System (INIS)

Shen Yao; Hao Liang; Long Guilu

2010-01-01

Here in this letter, we study the difference between quantum and classical deletion. We point out that the linear mapping deletion operation used in the impossibility proof for quantum systems applies also to classical system. The general classical deletion operation is a combined operation of measurement and transformation, i.e., first read the state and then transfer the state to the standard blank state. Though both quantum information and classical information can be deleted in an open system, quantum information cannot be recovered while classical information can be recovered. (general)

Conversion of Deletions during Recombination in Pneumococcal Transformation

Science.gov (United States)

Lefevre, J. C.; Mostachfi, P.; Gasc, A. M.; Guillot, E.; Pasta, F.; Sicard, M.

1989-01-01

Genetic analysis of 16 deletions obtained in the amiA locus of pneumococcus is described. When present on donor DNA, all deletions increased drastically the frequency of wild-type recombinants in two-point crosses. This effect was maximal for deletions longer than 200 bases. It was reduced for heterologies shorter than 76 bases and did not exist for very short deletions. In three-point crosses in which the deletion was localized between two point mutations, we demonstrated that this excess of wild-type recombinants was the result of a genetic conversion. This conversion extended over several scores of bases outside the deletion. Conversion takes place during the heteroduplex stage of recombination. Therefore, in pneumococcal transformation, long heterologies participated in this heteroduplex configuration. As this conversion did not require an active DNA polymerase A gene it is proposed that the mechanism of conversion is not a DNA repair synthesis but involves breakage and ligation between DNA molecules. Conversion of deletions did not require the Hex system of correction of mismatched bases. It differs also from localized conversion. It appears that it is a process that evolved to correct errors of replication which lead to long heterologies and which are not eliminated by other systems. PMID:2599365

36 CFR 1275.58 - Deletion of restricted portions.

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2010-07-01

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75 FR 69638 - Procurement List; Additions and Deletion

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2010-11-15

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Genetics Home Reference: proximal 18q deletion syndrome

Science.gov (United States)

... characteristic features. Most cases of proximal 18q deletion syndrome are the result of a new (de novo) deletion and are not inherited from a ... J, Fox PT, Stratton RF, Perry B, Hale DE. Recurrent interstitial deletions of proximal 18q: a new syndrome involving expressive speech delay. Am J Med Genet ...

Subtypes in 22q11.2 Deletion Syndrome Associated with Behaviour and Neurofacial Morphology

Science.gov (United States)

Sinderberry, Brooke; Brown, Scott; Hammond, Peter; Stevens, Angela F.; Schall, Ulrich; Murphy, Declan G. M.; Murphy, Kieran C.; Campbell, Linda E.

2013-01-01

22q11.2 deletion syndrome (22q11DS) has a complex phenotype with more than 180 characteristics, including cardiac anomalies, cleft palate, intellectual disabilities, a typical facial morphology, and mental health problems. However, the variable phenotype makes it difficult to predict clinical outcome, such as the high prevalence of psychosis among…

The diagnosis and molecular analysis of a novel 21.9kb deletion (Qinzhou type deletion) causing α+ thalassemia.

Science.gov (United States)

Long, Ju; Yan, Shanhuo; Lao, Kegan; Pang, Wanrong; Ye, Xuehe; Sun, Lei

2014-04-01

α-Thalassemia is a common single-gene genetic disease that can cause Hb Bart's hydrops fetalis and Hb H disease in tropical and subtropical regions. When examining conventional thalassemia genes, an only detected --(SEA) genotype sample needs further analysis. In doing so, we found a novel 21.9kb deletion (Qinzhou type deletion). The deletion position of the novel 21.9kb deletion is from 14373bp to 36299bp of the α-globin gene cluster (NG_000006.1); thus, there exists a 21927bp sequence deletion, into which a 29bp sequence is added. After sequence analysis, a group of Gap-PCR primers were synthesized to diagnose this novel thalassemia genotype. Through pedigree analysis, we deduced that the propositus obtained the novel alleles from her mother. The genotype of this propositus is --(SEA)/-α(21.9) and its phenotype conforms to the characteristics of Hb H disease, establishing that the combination between -α(21.9) genotype and α(0) genotype can lead to Hb H disease. By molecular analysis, we established that this case fits the characteristic of an α(+) thalassemia genotype. © 2013.

Thermochemical modelling of brown dwarf discs

NARCIS (Netherlands)

Greenwood, A. J.; Kamp, I.; Waters, L. B. F. M.; Woitke, P.; Thi, W.-F.; Rab, Ch.; Aresu, G.; Spaans, M.

The physical properties of brown dwarf discs, in terms of their shapes and sizes, are still largely unexplored by observations. ALMA has by far the best capabilities to observe these discs in sub-mm CO lines and dust continuum, while also spatially resolving some discs. To what extent brown dwarf

Fast detection of deletion breakpoints using quantitative PCR

Directory of Open Access Journals (Sweden)

Gulshara Abildinova

2016-01-01

Full Text Available Abstract The routine detection of large and medium copy number variants (CNVs is well established. Hemizygotic deletions or duplications in the large Duchenne muscular dystrophy DMD gene responsible for Duchenne and Becker muscular dystrophies are routinely identified using multiple ligation probe amplification and array-based comparative genomic hybridization. These methods only map deleted or duplicated exons, without providing the exact location of breakpoints. Commonly used methods for the detection of CNV breakpoints include long-range PCR and primer walking, their success being limited by the deletion size, GC content and presence of DNA repeats. Here, we present a strategy for detecting the breakpoints of medium and large CNVs regardless of their size. The hemizygous deletion of exons 45-50 in the DMD gene and the large autosomal heterozygous PARK2 deletion were used to demonstrate the workflow that relies on real-time quantitative PCR to narrow down the deletion region and Sanger sequencing for breakpoint confirmation. The strategy is fast, reliable and cost-efficient, making it amenable to widespread use in genetic laboratories.

Detection of genomic deletions in rice using oligonucleotide microarrays

Directory of Open Access Journals (Sweden)

Bordeos Alicia

2009-03-01

Full Text Available Abstract Background The induction of genomic deletions by physical- or chemical- agents is an easy and inexpensive means to generate a genome-saturating collection of mutations. Different mutagens can be selected to ensure a mutant collection with a range of deletion sizes. This would allow identification of mutations in single genes or, alternatively, a deleted group of genes that might collectively govern a trait (e.g., quantitative trait loci, QTL. However, deletion mutants have not been widely used in functional genomics, because the mutated genes are not tagged and therefore, difficult to identify. Here, we present a microarray-based approach to identify deleted genomic regions in rice mutants selected from a large collection generated by gamma ray or fast neutron treatment. Our study focuses not only on the utility of this method for forward genetics, but also its potential as a reverse genetics tool through accumulation of hybridization data for a collection of deletion mutants harboring multiple genetic lesions. Results We demonstrate that hybridization of labeled genomic DNA directly onto the Affymetrix Rice GeneChip® allows rapid localization of deleted regions in rice mutants. Deletions ranged in size from one gene model to ~500 kb and were predicted on all 12 rice chromosomes. The utility of the technique as a tool in forward genetics was demonstrated in combination with an allelic series of mutants to rapidly narrow the genomic region, and eventually identify a candidate gene responsible for a lesion mimic phenotype. Finally, the positions of mutations in 14 mutants were aligned onto the rice pseudomolecules in a user-friendly genome browser to allow for rapid identification of untagged mutations http://irfgc.irri.org/cgi-bin/gbrowse/IR64_deletion_mutants/. Conclusion We demonstrate the utility of oligonucleotide arrays to discover deleted genes in rice. The density and distribution of deletions suggests the feasibility of a

Production of blast furnace coke from soft brown coal

Energy Technology Data Exchange (ETDEWEB)

Scholz, G.; Wundes, H.; Schkommodau, F.; Zinke, H.-G. (VEB Gaskombinat Schwarze Pumpe (German Democratic Republic))

1988-01-01

Reviews experimental production and utilization of high quality brown coal coke in the GDR during 1985 and 1986. The technology of briquetting and coking brown coal dust is described; the superior parameters of produced coke quality are listed in comparison to those of regular industrial coke made from brown and black coal. Dust emission from high quality brown coal coke was suppressed by coke surface treatment with dispersion foam. About 4,200 t of this coke were employed in black coal coke substitution tests in a blast furnace. Substitution rate was 11%, blast furnace operation was positive, a substitution factor of 0.7 t black coal coke per 1 t of brown coal coke was calculated. Technology development of high quality brown coal coke production is regarded as complete; blast furnace coke utilization, however, requires further study. 8 refs.

29 CFR 1610.20 - Deletion of exempted matters.

Science.gov (United States)

2010-07-01

... 29 Labor 4 2010-07-01 2010-07-01 false Deletion of exempted matters. 1610.20 Section 1610.20 Labor... Production or Disclosure Under 5 U.S.C. 552 § 1610.20 Deletion of exempted matters. Where requested records... the remainder of the records, they shall be disclosed by the Commission with deletions. To each such...

Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome

Science.gov (United States)

Bieth, Eric; Eddiry, Sanaa; Gaston, Véronique; Lorenzini, Françoise; Buffet, Alexandre; Conte Auriol, Françoise; Molinas, Catherine; Cailley, Dorothée; Rooryck, Caroline; Arveiler, Benoit; Cavaillé, Jérome; Salles, Jean Pierre; Tauber, Maïthé

2015-01-01

The SNORD116 locus lies in the 15q11-13 region of paternally expressed genes implicated in Prader–Willi Syndrome (PWS), a complex disease accompanied by obesity and severe neurobehavioural disturbances. Cases of PWS patients with a deletion encompassing the SNORD116 gene cluster, but preserving the expression of flanking genes, have been described. We report a 23-year-old woman who presented clinical criteria of PWS, including the behavioural and nutritional features, obesity, developmental delay and endocrine dysfunctions with hyperghrelinemia. We found a paternally transmitted highly restricted deletion of the SNORD116 gene cluster, the shortest described to date (118 kb). This deletion was also present in the father. This finding in a human case strongly supports the current hypothesis that lack of the paternal SNORD116 gene cluster has a determinant role in the pathogenesis of PWS. Moreover, targeted analysis of the SNORD116 gene cluster, complementary to SNRPN methylation analysis, should be carried out in subjects with a phenotype suggestive of PWS. PMID:24916642

17q12 Deletion in a patient with Williams syndrome: Case report and review of the literature.

Science.gov (United States)

Cohen, Lilian; Samanich, Joy; Pan, Quilu; Mehta, Lakshmi; Marion, Robert

2012-06-01

Williams syndrome (WS) is a complex genomic disorder entailing distinctive facial dysmorphism, cardiovascular abnormalities, intellectual disabilities, unusual behavioral features, and a specific cognitive profile with considerable variability. Additional symptoms include endocrine abnormalities, renal anomalies and connective tissue disorders. We report a monozygotic twin patient with WS who presented with multicystic kidneys in the newborn period, and, in addition to the typical WS deletion at 7q11.23, was found to have a de novo 1.7 Mb deletion in the 17q12 region on microarray comparative genomic hybridization. The co-twin was selectively terminated at 23 wk of gestation after being diagnosed with bilateral multicystic dysplastic kidneys and anhydramnios. Review of the literature shows that deletion of chromosome 17q12, encompassing hepatocyte nuclear factor 1beta gene, is associated with cystic renal disease and is the first recurrent genomic deletion associated with maturity onset diabetes of the young. In addition, reports of female reproductive tract malformations and patients with neurocognitive or psychiatric phenotypes have recently been described. This review of the literature summarizes 47 other cases involving 17q12 deletions with wide variability in phenotype, possibly suggesting a contiguous gene syndrome. It is likely that the additional 17q12 deletion has played a role in modifying the phenotype in our patient. This case highlights the importance of using array comparative genomic hybridization in the clinical setting to uncover the etiology of atypical findings in individuals with known microdeletion syndromes.

De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasis.

Science.gov (United States)

Pajusalu, Sander; Reimand, Tiia; Uibo, Oivi; Vasar, Maire; Talvik, Inga; Zilina, Olga; Tammur, Pille; Õunap, Katrin

2015-01-01

We report a female patient with a complex phenotype consisting of failure to thrive, developmental delay, congenital bronchiectasis, gastroesophageal reflux and bilateral inguinal hernias. Chromosomal microarray analysis revealed a 230 kilobase deletion in chromosomal region 17q21.32 (arr[hg19] 17q21.32(46 550 362-46 784 039)×1) encompassing only 9 genes - HOXB1 to HOXB9. The deletion was not found in her mother or father. This is the first report of a patient with a HOXB gene cluster deletion involving only HOXB1 to HOXB9 genes. By comparing our case to previously reported five patients with larger chromosomal aberrations involving the HOXB gene cluster, we can suppose that HOXB gene cluster deletions are responsible for growth retardation, developmental delay, and specific facial dysmorphic features. Also, we suppose that bilateral inguinal hernias, tracheo-esophageal abnormalities, and lung malformations represent features with incomplete penetrance. Interestingly, previously published knock-out mice with targeted heterozygous deletion comparable to our patient did not show phenotypic alterations. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Probabilistic deletion of copies of linearly independent quantum states

International Nuclear Information System (INIS)

Feng Jian; Gao Yunfeng; Wang Jisuo; Zhan Mingsheng

2002-01-01

We show that each of two copies of the nonorthogonal states randomly selected from a certain set S can be probabilistically deleted by a general unitary-reduction operation if and only if the states are linearly independent. We derive a tight bound on the best possible deleting efficiencies. These results for 2→1 probabilistic deleting are also generalized into the case of N→M deleting (N,M positive integers and N>M)

ATLAS DQ2 Deletion Service

International Nuclear Information System (INIS)

Oleynik, Danila; Petrosyan, Artem; Garonne, Vincent; Campana, Simone

2012-01-01

The ATLAS Distributed Data Management project DQ2 is responsible for the replication, access and bookkeeping of ATLAS data across more than 100 distributed grid sites. It also enforces data management policies decided on by the collaboration and defined in the ATLAS computing model. The DQ2 Deletion Service is one of the most important DDM services. This distributed service interacts with 3rd party grid middleware and the DQ2 catalogues to serve data deletion requests on the grid. Furthermore, it also takes care of retry strategies, check-pointing transactions, load management and fault tolerance. In this paper special attention is paid to the technical details which are used to achieve the high performance of service, accomplished without overloading either site storage, catalogues or other DQ2 components. Special attention is also paid to the deletion monitoring service that allows operators a detailed view of the working system.

The brown coal. Present state and development perspectives

International Nuclear Information System (INIS)

Wagenknecht, J.

1994-01-01

A present state of Polish power plants fueled by brown coal is presented. Their economic results are compared with the achievements of power stations fueled by black coal. The basic data concerning brown coal reserves, production and consumption are given. The problems of environmental protection are discussed. The different applications of brown coal are mentioned. Its importance for energy balance is stressed. 6 tabs

Deletion of Late Cornified Envelope 3B and 3C Genes Is Not Associated with Atopic Dermatitis

NARCIS (Netherlands)

Bergboer, Judith G. M.; Zeeuwen, Patrick L. J. M.; Irvine, Alan D.; Weidinger, Stephan; Giardina, Emiliano; Novelli, Giuseppe; Den Heijer, Martin; Rodriguez, Elke; Illig, Thomas; Riveira-Munoz, Eva; Campbell, Linda E.; Tyson, Jess; Dannhauser, Emma N.; O'Regan, Grainne M.; Galli, Elena; Klopp, Norman; Koppelman, Gerard H.; Novak, Natalija; Estivill, Xavier; McLean, W. H. Irwin; Postma, Dirkje S.; Armour, John A. L.; Schalkwijk, Joost

Atopic dermatitis (AD) and psoriasis are common skin diseases characterized by cutaneous inflammation and disturbed epidermal differentiation. Genome-wide analyses have shown overlapping susceptibility loci, such as the epidermal differentiation complex on chromosome 1q21. Recently, a deletion on

Deletion of Late Cornified Envelope 3B and 3C genes is not associated with atopic dermatitis.

NARCIS (Netherlands)

Bergboer, J.G.M.; Zeeuwen, P.L.J.M.; Irvine, A.D.; Weidinger, S.; Giardina, E.; Novelli, G.; Heijer, M. den; Rodriguez, E.; Illig, T.; Riveira-Munoz, E.; Campbell, L.E.; Tyson, J.; Dannhauser, E.N.; O'Regan, G.M.; Galli, E.; Klopp, N.; Koppelman, G.H.; Novak, N.; Estivill, X.; McLean, W.H.I.; Postma, D.S.; Armour, J.A.; Schalkwijk, J.

2010-01-01

Atopic dermatitis (AD) and psoriasis are common skin diseases characterized by cutaneous inflammation and disturbed epidermal differentiation. Genome-wide analyses have shown overlapping susceptibility loci, such as the epidermal differentiation complex on chromosome 1q21. Recently, a deletion on

Differential modulation of host genes in the kidney of brown trout Salmo trutta during sporogenesis of Tetracapsuloides bryosalmonae (Myxozoa).

Science.gov (United States)

Kumar, Gokhlesh; Abd-Elfattah, Ahmed; El-Matbouli, Mansour

2014-10-04

Tetracapsuloides bryosalmonae (Myxozoa) is the causative agent of proliferative kidney disease in various species of salmonids in Europe and North America. In Europe, spores of T. bryosalmonae develop in the kidney of infected brown trout Salmo trutta and are released via urine to infect the freshwater bryozoan Fredericella sultana. The transcriptomes of kidneys of infected and non-infected brown trout were compared by suppressive subtractive hybridization. Differential screening and a subsequent NCBI BLAST analysis of expressed sequence tags revealed 21 transcripts with functions that included cell stress and cell growth, ribonucleoprotein, signal transduction, ion transporter, immune response, hemoglobin and calcium metabolisms. Quantitative real time PCR was used to verify the presence of these selected transcripts in brown trout kidney at sporogonic stages of T. bryosalmonae development. Expression of cold-inducible RNA-binding protein, cyclin-dependent kinase inhibitor 2A, prothymosin alpha, transforming protein RhoA, immunoglobulin light chain and major histocompatibility complex class I were up-regulated significantly in infected brown trout. Expression of both the hemoglobin subunit beta and stanniocalcin precursor were down-regulated significantly in infected brown trout. This study suggests that cell stress and cell growth processes, signal transduction activities, erythropoiesis and calcium homeostasis of the host are modulated during sporogonic stages of parasite development, which may support the sporogenesis of T. bryosalmonae in the kidney of brown trout.

The brown dwarf kinematics project

Science.gov (United States)

Faherty, Jackie K.

2010-10-01

Brown dwarfs are a recent addition to the plethora of objects studied in Astronomy. With theoretical masses between 13 and 75 MJupiter , they lack sustained stable Hydrogen burning so they never join the stellar main sequence. They have physical properties similar to both planets and low-mass stars so studies of their population inform on both. The distances and kinematics of brown dwarfs provide key statistical constraints on their ages, moving group membership, absolute brightnesses, evolutionary trends, and multiplicity. Yet, until my thesis, fundamental measurements of parallax and proper motion were made for only a relatively small fraction of the known population. To address this deficiency, I initiated the Brown Dwarf Kinematics (BDKP). Over the past four years I have re-imaged the majority of spectroscopically confirmed field brown dwarfs (or ultracool dwarfs---UCDs) and created the largest proper motion catalog for ultracool dwarfs to date. Using new astrometric information I examined population characteristics such as ages calculated from velocity dispersions and correlations between kinematics and colors. Using proper motions, I identified several new wide co-moving companions and investigated binding energy (and hence formation) limitations as well as the frequency of hierarchical companions. Concurrently over the past four years I have been conducting a parallax survey of 84 UCDs including those showing spectral signatures of youth, metal-poor brown dwarfs, and those within 20 pc of the Sun. Using absolute magnitude relations in J,H, and K, I identified overluminous binary candidates and investigated known flux-reversal binaries. Using current evolutionary models, I compared the MK vs J-K color magnitude diagram to model predictions and found that the low-surface gravity dwarfs are significantly red-ward and underluminous of predictions and a handful of late-type T dwarfs may require thicker clouds to account for their scatter.

Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy

DEFF Research Database (Denmark)

Bisgaard, A-M; Kirchhoff, M; Nielsen, J E

2008-01-01

A deletion on one chromosome and a mutant allele on the other may cause an autosomal recessive disease. We report on two patients with mental retardation, dysmorphic features and low catalytic activity of arylsulfatase A. One patient had a pathogenic mutation in the arylsulfatase A gene (ARSA......) and succumbed to metachromatic leukodystrophy (MLD). The other patient had a pseudoallele, which does not lead to MLD. The presenting clinical features and low arylsulfatase A activity were explained, in each patients, by a deletion of 22q13 and, thereby, of one allele of ARSA....

Mitochondrial DNA deletion in a patient with combined features of Leigh and Pearson syndromes

Energy Technology Data Exchange (ETDEWEB)

Blok, R.B.; Thorburn, D.R.; Danks, D.M. [Royal Children`s Hospital, Melbourne (Australia)] [and others

1994-09-01

We describe a heteroplasmic 4237 bp mitochondrial DNA (mtDNA) deletion in an 11 year old girl who has suffered from progressive illness since birth. She has some features of Leigh syndrome (global developmental delay with regression, brainstem dysfunction and lactic acidosis), together with other features suggestive of Pearson syndrome (history of pancytopenia and failure to thrive). The deletion was present at a level greater than 50% in skeletal muscle, but barely detectable in skin fibroblasts following Southern blot analysis, and only observed in blood following PCR analysis. The deletion spanned nt 9498 to nt 13734, and was flanked by a 12 bp direct repeat. Genes for cytochrome c oxidase subunit III, NADH dehydrogenase subunits 3, 4L, 4 and 5, and tRNAs for glycine, arginine, histidine, serine({sup AGY}) and leucine({sup CUN}) were deleted. Southern blotting also revealed an altered Apa I restriction site which was shown by sequence analysis to be caused by G{r_arrow}A nucleotide substitution at nt 1462 in the 12S rRNA gene. This was presumed to be a polymorphism. No abnormalities of mitochondrial ultrastructure, distribution or of respiratory chain enzyme complexes I-IV in skeletal muscle were observed. Mitochondrial disorders with clinical features overlapping more than one syndrome have been reported previously. This case further demonstrates the difficulty in correlating observed clinical features with a specific mitochondrial DNA mutation.

Deletion of exons 9 and 10 of the Presenilin 1 gene in a patient with Early-onset Alzheimer Disease generates longer amyloid seeds.

Science.gov (United States)

Le Guennec, Kilan; Veugelen, Sarah; Quenez, Olivier; Szaruga, Maria; Rousseau, Stéphane; Nicolas, Gaël; Wallon, David; Fluchere, Frédérique; Frébourg, Thierry; De Strooper, Bart; Campion, Dominique; Chávez-Gutiérrez, Lucía; Rovelet-Lecrux, Anne

2017-08-01

Presenilin 1 (PSEN1) mutations are the main cause of autosomal dominant Early-onset Alzheimer Disease (EOAD). Among them, deletions of exon 9 have been reported to be associated with a phenotype of spastic paraparesis. Using exome data from a large sample of 522 EOAD cases and 584 controls to search for genomic copy-number variations (CNVs), we report here a novel partial, in-frame deletion of PSEN1, removing both exons 9 and 10. The patient presented with memory impairment associated with spastic paraparesis, both starting from the age of 56years. He presented a positive family history of EOAD. We performed functional analysis to elucidate the impact of this novel deletion on PSEN1 activity as part of the γ-secretase complex. The deletion does not affect the assembly of a mature protease complex but has an extreme impact on its global endopeptidase activity. The mutant carboxypeptidase-like activity is also strongly impaired and the deleterious mutant effect leads to an incomplete digestion of long Aβ peptides and enhances the production of Aβ43, which has been shown to be potently amyloidogenic and neurotoxic in vivo. Copyright © 2017 Elsevier Inc. All rights reserved.

75 FR 56995 - Procurement List Proposed Additions and Deletion

Science.gov (United States)

2010-09-17

... Additions and Deletion AGENCY: Committee for Purchase From People Who Are Blind or Severely Disabled. ACTION: Proposed Additions to and Deletion From the Procurement List. SUMMARY: The Committee is proposing to add... aggregated by the Defense Logistics Agency Troop Support, Philadelphia, PA. Deletion Regulatory Flexibility...

76 FR 60810 - Procurement List; Proposed Additions and Deletion

Science.gov (United States)

2011-09-30

... Additions and Deletion AGENCY: Committee for Purchase From People Who Are Blind or Severely Disabled. ACTION: Proposed Additions to and Deletion from the Procurement List. SUMMARY: The Committee is proposing to add... Activity: Department of Energy, Idaho Operations Office, Idaho Falls, ID. DELETION Regulatory Flexibility...

Estrogenic effects of phytoestrogens in brown trout (Salmo trutta)

DEFF Research Database (Denmark)

Nielsen, Louise Marie; Holbech, Henrik; Bjerregaard, Poul

2010-01-01

, the potential effect of the waterborne phytoestrogens on endemic fish species is largely unknown. In the present investigation, the estrogenic effect of biochanin A was tested in brown trout through water exposure experiments. Juvenile brown trout of both sexes were exposed to different concentrations...... of biochanin A. In a ten day exposure experiments, NOEC and LOEC for plasma vitellogenin induction in brown trout were found to be 0.8µg biochanin A/L and 1.2µg biochanin A/L, respectively. A six hour pulse experiment resulted in NOEC and LOEC for induction of plasma vitellogenin in brown trout of 48µg...... biochanin A/L and 186µg biochanin A/L, respectively. Investigations of the ability of genistein to induce vitellogenin synthesis in brown trout are ongoing....

Are there ethnic differences in deletions in the dystrophin gene?

Energy Technology Data Exchange (ETDEWEB)

Banerjee, M.; Verma, I.C. [All India Inst. of Medical Sciences, New Delhi (India)

1997-01-20

We studied 160 cases of Duchenne muscular dystrophy (DMD) drawn from all parts of India, using multiplex PCR of 27 exons. Of these, 103 (64.4%) showed intragenic deletions. Most (69.7%) of the deletions involved exons 45-51. The phenotype of cases with deletion of single exons did not differ significantly from those with deletion of multiple exons. The distribution of deletions in studies from different countries was variable, but this was accounted for either by the small number of cases studied, or by fewer exons analyzed. It is concluded that there is likely to be no ethnic difference with respect to deletions in the DMD gene. 38 refs., 2 figs., 3 tabs.

Phylogeography of mitochondrial DNA variation in brown bears and polar bears.

Science.gov (United States)

Shields, G F; Adams, D; Garner, G; Labelle, M; Pietsch, J; Ramsay, M; Schwartz, C; Titus, K; Williamson, S

2000-05-01

We analyzed 286 nucleotides of the middle portion of the mitochondrial cytochrome b gene of 61 brown bears from three locations in Alaska and 55 polar bears from Arctic Canada and Arctic Siberia to test our earlier observations of paraphyly between polar bears and brown bears as well as to test the extreme uniqueness of mitochondrial DNA types of brown bears on Admiralty, Baranof, and Chichagof (ABC) islands of southeastern Alaska. We also investigated the phylogeography of brown bears of Alaska's Kenai Peninsula in relation to other Alaskan brown bears because the former are being threatened by increased human development. We predicted that: (1) mtDNA paraphyly between brown bears and polar bears would be upheld, (2) the mtDNA uniqueness of brown bears of the ABC islands would be upheld, and (3) brown bears of the Kenai Peninsula would belong to either clade II or clade III of brown bears of our earlier studies of mtDNA. All of our predictions were upheld through the analysis of these additional samples. Copyright 2000 Academic Press.

Phylogeography of mitochondrial DNA variation in brown bears and polar bears

Science.gov (United States)

Shields, Gerald F.; Adams, Deborah; Garner, Gerald W.; Labelle, Martine; Pietsch, Jacy; Ramsay, Malcolm; Schwartz, Charles; Titus, Kimberly; Williamson, Scott

2000-01-01

We analyzed 286 nucleotides of the middle portion of the mitochondrial cytochrome b gene of 61 brown bears from three locations in Alaska and 55 polar bears from Arctic Canada and Arctic Siberia to test our earlier observations of paraphyly between polar bears and brown bears as well as to test the extreme uniqueness of mitochondrial DNA types of brown bears on Admiralty, Baranof, and Chichagof (ABC) islands of southeastern Alaska. We also investigated the phylogeography of brown bears of Alaska's Kenai Peninsula in relation to other Alaskan brown bears because the former are being threatened by increased human development. We predicted that: (1) mtDNA paraphyly between brown bears and polar bears would be upheld, (2) the mtDNA uniqueness of brown bears of the ABC islands would be upheld, and (3) brown bears of the Kenai Peninsula would belong to either clade II or clade III of brown bears of our earlier studies of mtDNA. All of our predictions were upheld through the analysis of these additional samples.

Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes.

Science.gov (United States)

Flynn, Elizabeth K; Kamat, Aparna; Lach, Francis P; Donovan, Frank X; Kimble, Danielle C; Narisu, Narisu; Sanborn, Erica; Boulad, Farid; Davies, Stella M; Gillio, Alfred P; Harris, Richard E; MacMillan, Margaret L; Wagner, John E; Smogorzewska, Agata; Auerbach, Arleen D; Ostrander, Elaine A; Chandrasekharappa, Settara C

2014-11-01

Fanconi anemia (FA) is a rare recessive disease resulting from mutations in one of at least 16 different genes. Mutation types and phenotypic manifestations of FA are highly heterogeneous and influence the clinical management of the disease. We analyzed 202 FA families for large deletions, using high-resolution comparative genome hybridization arrays, single-nucleotide polymorphism arrays, and DNA sequencing. We found pathogenic deletions in 88 FANCA, seven FANCC, two FANCD2, and one FANCB families. We find 35% of FA families carry large deletions, accounting for 18% of all FA pathogenic variants. Cloning and sequencing across the deletion breakpoints revealed that 52 FANCA deletion ends, and one FANCC deletion end extended beyond the gene boundaries, potentially affecting neighboring genes with phenotypic consequences. Seventy-five percent of the FANCA deletions are Alu-Alu mediated, predominantly by AluY elements, and appear to be caused by nonallelic homologous recombination. Individual Alu hotspots were identified. Defining the haplotypes of four FANCA deletions shared by multiple families revealed that three share a common ancestry. Knowing the exact molecular changes that lead to the disease may be critical for a better understanding of the FA phenotype, and to gain insight into the mechanisms driving these pathogenic deletion variants. © 2014 WILEY PERIODICALS, INC.

Browning phenomenon of medieval stained glass windows.

Science.gov (United States)

Ferrand, Jessica; Rossano, Stéphanie; Loisel, Claudine; Trcera, Nicolas; van Hullebusch, Eric D; Bousta, Faisl; Pallot-Frossard, Isabelle

2015-04-07

In this work, three pieces of historical on-site glass windows dated from the 13th to 16th century and one archeological sample (8th century) showing Mn-rich brown spots at their surface or subsurface have been characterized by optical microscopy and Scanning Electron Microscopy coupled with Energy Dispersive X-ray spectroscopy. The oxidation state of Mn as well as the Mn environment in the alteration phase have been characterized by X-ray absorption spectroscopy at the Mn K-edge. Results show that the oxidation state of Mn and therefore the nature of the alteration phase varies according to the sample considered and is correlated with the extent of the brown alteration. The larger the brown areas the more oxidized the Mn. However, by contrast with literature, the samples presenting the more extended brown areas are not similar to pyrolusite and contain Mn mainly under a (+III) oxidation state.

The significance of chromosome deletions in atomic-bomb survivors

International Nuclear Information System (INIS)

Tanaka, Kimio; Shigeta, Chiharu; Oguma, Nobuo; Kamada, Nanao; Deng, Z.; Niimi, Masanobu; Aisaka, Tadaichi.

1986-01-01

In 39 A-bomb survivors 40 years after exposure at ≤ 1,000 m from ground zero, the frequency and features of chromosome deletions in peripheral lymphocytes were examined using a differential staining technique. Simultaneously, in vitro irradiation experiment with Cf-252 was made to infer chromosome aberrations occuring immediately after exposure. Californium-252 with 100 rad induced dicentric and ring chromosomes in 40 % of the cells and acentric fragments in 44 %. Among the A-bomb survivors, chromosome aberrations were observed in 651 (21 %) of the total 3,136 cells. There were 146 cells with deletions (22 % of abnormal cells; 5 % of the total cells), and 10 cells with acentric fragment (0.3 % of the total cells). The figure for deletions was far higher than that reported in the literature. A large number of deletions were seen in chromosomes no.4, no.21, and no.22, and a few deletions in chromosomes no.7 and no.20. Significance of chromosome deletions is discussed. (Namekawa, K.)

Brown Recluse Spider

Science.gov (United States)

... to a group of spiders commonly known as violin spiders or fiddlebacks. The characteristic fiddle-shaped pattern ... 4-19.1mm) • Color: Golden brown • A dark violin/fiddle shape (see top photo) is located on ...

Browns Ferry

International Nuclear Information System (INIS)

Wood, J.

1996-01-01

In 1986, the US Nuclear Regulatory Commission (NRC) established a ''watch list'' of power reactors requiring special attention which included the three BWR units at Brown's Ferry owned by the Tennessee Valley Authority (TVA). The reactors has been closed down voluntarily by the TVA in 1985 in order to deal with a backlog of maintenance and regulatory issues. Intended as short-term, the shutdown was indefinitely extended when the nature and extent of the design changes, accompanying documentation and retrofitting required to satisfy the NRC became apparent. The recovery programme for Unit 2 was completed by 1991 and the reactor returned to service under a dedicated operating staff. Meanwhile, a separate, dedicated, recovery team was set up to manage Unit 3 which was returned to service in December 1995. Browns Ferry 2 was removed from the NRC watch list in June 1992 and Units 1 and 3 in June 1996. Units 2 and 3 have both operated successfully since restart but Unit 1 is currently mothballed and TVA has no plans to bring it back into service. (UK)

75 FR 7450 - Procurement List: Proposed Addition and Deletion

Science.gov (United States)

2010-02-19

... Addition and Deletion AGENCY: Committee for Purchase From People Who Are Blind or Severely Disabled. ACTION: Proposed addition to and deletion from Procurement List. SUMMARY: The Committee is proposing to add to the... W6BA ACA, FT CARSON, COLORADO. Deletion Regulatory Flexibility Act Certification I certify that the...

77 FR 20795 - Procurement List Proposed Addition and Deletion

Science.gov (United States)

2012-04-06

... Addition and Deletion AGENCY: Committee for Purchase From People Who Are Blind or Severely Disabled. ACTION: Proposed Addition to and Deletion from the Procurement List. SUMMARY: The Committee is proposing to add a.... Deletion Regulatory Flexibility Act Certification I certify that the following action will not have a...

9q22 Deletion - First Familial Case

Directory of Open Access Journals (Sweden)

Yamamoto Toshiyuki

2011-06-01

Full Text Available Abstract Background Only 29 cases of constitutional 9q22 deletions have been published and all have been sporadic. Most associate with Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS, MIM #109400 due to haploinsufficiency of the PTCH1 gene (MIM *601309. Methods and Results We report two mentally retarded female siblings and their cognitively normal father, all carrying a similar 5.3 Mb microdeletion at 9q22.2q22.32, detected by array CGH (244 K. The deletion does not involve the PTCH1 gene, but instead 30 other gene,s including the ROR2 gene (MIM *602337 which causing both brachydactyly type 1 (MIM #113000 and Robinow syndrome (MIM #268310, and the immunologically active SYK gene (MIM *600085. The deletion in the father was de novo and FISH analysis of blood lymphocytes did not suggest mosaicism. All three patients share similar mild dysmorphic features with downslanting palpebral fissures, narrow, high bridged nose with small nares, long, deeply grooved philtrum, ears with broad helix and uplifted lobuli, and small toenails. All have significant dysarthria and suffer from continuous middle ear and upper respiratory infections. The father also has a funnel chest and unilateral hypoplastic kidney but the daughters have no malformations. Conclusions This is the first report of a familial constitutional 9q22 deletion and the first deletion studied by array-CGH which does not involve the PTCH1 gene. The phenotype and penetrance are variable and the deletion found in the cognitively normal normal father poses a challenge in genetic counseling.

Mitochondrial DNA deletion mutations in adult mouse cardiac side population cells

International Nuclear Information System (INIS)

Lushaj, Entela B.; Lozonschi, Lucian; Barnes, Maria; Anstadt, Emily; Kohmoto, Takushi

2012-01-01

We investigated the presence and potential role of mitochondrial DNA (mtDNA) deletion mutations in adult cardiac stem cells. Cardiac side population (SP) cells were isolated from 12-week-old mice. Standard polymerase chain reaction (PCR) was used to screen for the presence of mtDNA deletion mutations in (a) freshly isolated SP cells and (b) SP cells cultured to passage 10. When present, the abundance of mtDNA deletion mutation was analyzed in single cell colonies. The effect of different levels of deletion mutations on SP cell growth and differentiation was determined. MtDNA deletion mutations were found in both freshly isolated and cultured cells from 12-week-old mice. While there was no significant difference in the number of single cell colonies with mtDNA deletion mutations from any of the groups mentioned above, the abundance of mtDNA deletion mutations was significantly higher in the cultured cells, as determined by quantitative PCR. Within a single clonal cell population, the detectable mtDNA deletion mutations were the same in all cells and unique when compared to deletions of other colonies. We also found that cells harboring high levels of mtDNA deletion mutations (i.e. where deleted mtDNA comprised more than 60% of total mtDNA) had slower proliferation rates and decreased differentiation capacities. Screening cultured adult stem cells for mtDNA deletion mutations as a routine assessment will benefit the biomedical application of adult stem cells.

Phytochemical Profile of Brown Rice and Its Nutrigenomic Implications

Directory of Open Access Journals (Sweden)

Keneswary Ravichanthiran

2018-05-01

Full Text Available Whole grain foods have been promoted to be included as one of the important components of a healthy diet because of the relationship between the regular consumption of whole-grain foods and reduced risk of chronic diseases. Rice is a staple food, which has been widely consumed for centuries by many Asian countries. Studies have suggested that brown rice is associated with a wide spectrum of nutrigenomic implications such as anti-diabetic, anti-cholesterol, cardioprotective and antioxidant. This is because of the presence of various phytochemicals that are mainly located in bran layers of brown rice. Therefore, this paper is a review of publications that focuses on the bioactive compounds and nutrigenomic implications of brown rice. Although current evidence supports the fact that the consumption of brown rice is beneficial for health, these studies are heterogeneous in terms of their brown rice samples used and population groups, which cause the evaluation to be difficult. Future clinical studies should focus on the screening of individual bioactive compounds in brown rice with reference to their nutrigenomic implications.

Usefulness of MLPA in the detection of SHOX deletions.

Science.gov (United States)

Funari, Mariana F A; Jorge, Alexander A L; Souza, Silvia C A L; Billerbeck, Ana E C; Arnhold, Ivo J P; Mendonca, Berenice B; Nishi, Mirian Y

2010-01-01

SHOX haploinsufficiency causes a wide spectrum of short stature phenotypes, such as Leri-Weill dyschondrosteosis (LWD) and disproportionate short stature (DSS). SHOX deletions are responsible for approximately two thirds of isolated haploinsufficiency; therefore, it is important to determine the most appropriate methodology for detection of gene deletion. In this study, three methodologies for the detection of SHOX deletions were compared: the fluorescence in situ hybridization (FISH), microsatellite analysis and multiplex ligation-dependent probe amplification (MLPA). Forty-four patients (8 LWD and 36 DSS) were analyzed. The cosmid LLNOYCO3'M'34F5 was used as a probe for the FISH analysis and microsatellite analysis were performed using three intragenic microsatellite markers. MLPA was performed using commercial kits. Twelve patients (8 LWD and 4 DSS) had deletions in SHOX area detected by MLPA and 2 patients generated discordant results with the other methodologies. In the first case, the deletion was not detected by FISH. In the second case, both FISH and microsatellite analyses were unable to identify the intragenic deletion. In conclusion, MLPA was more sensitive, less expensive and less laborious; therefore, it should be used as the initial molecular method for the detection of SHOX gene deletion. Copyright © 2010 Elsevier Masson SAS. All rights reserved.

Search for brown dwarfs in the IRAS data bases

International Nuclear Information System (INIS)

Low, F.J.

1986-01-01

A report is given on the initial searches for brown dwarf stars in the IRAS data bases. The paper was presented to the workshop on 'Astrophysics of brown dwarfs', Virginia, USA, 1985. To date no brown dwarfs have been discovered in the solar neighbourhood. Opportunities for future searches with greater sensitivity and different wavelengths are outlined. (U.K.)

Exposure of Brown Recluse and Brown Widow Spiders (Araneae: Sicariidae, Theridiidae) to a Commercial Sulfuryl Fluoride Fumigation.

Science.gov (United States)

Vetter, Richard S; Hoddle, Mark S; Choe, Dong-Hwan; Thoms, Ellen

2014-10-01

The body of pesticide research on spiders is sparse with most studies using topical or residual applications to assess efficacy. Data on the effects of fumigation on spider survivorship are scarce in the scientific literature. In this study, we exposed adult male and female brown recluse spiders, Loxosceles reclusa Gertsch & Mulaik, and female brown widow spiders, Latrodectus geometricus C. L. Koch, to a commercial fumigation event using sulfuryl fluoride directed at termite control. General consensus from the pest control industry is that fumigation is not always effective for control of spiders for a variety of reasons, including insufficient fumigant dosage, particularly, for contents of egg sacs that require a higher fumigant dosage for control. We demonstrated that a sulfuryl fluoride fumigation with an accumulated dosage of 162 oz-h per 1,000 ft(3) at 21°C over 25 h (≈1.7 × the drywood termite dosage) directed at termites was sufficient to kill adult brown recluse and brown widow spiders. The effectiveness of commercial fumigation practices to control spiders, and particularly their egg sacs, warrants further study. © 2014 Entomological Society of America.

Mink predation on brown trout in a Black Hills stream

Science.gov (United States)

Davis, Jacob L.; Wilhite, Jerry W.; Chipps, Steven R.

2016-01-01

In the early 2000’s, declines in the brown trout (Salmo trutta) fishery in Rapid Creek, South Dakota, caused concern for anglers and fisheries managers. We conducted a radio telemetry study in 2010 and 2011 to identify predation mortality associated with mink, using hatchery-reared (2010) or wild (2011) brown trout. Estimated predation rates by mink (Mustela vison) on radio-tagged brown trout were 30% for hatchery fish and 32% for wild fish. Size frequency analysis revealed that the size distribution of brown trout lost to predation was similar to that of other, radio-tagged brown trout. In both years, a higher proportion of predation mortality (83–92%) occurred during spring, consistent with seasonal fish consumption by mink. Predation by mink appeared to be a significant source of brown trout mortality in our study.

Properties of sorbents from brown coal

Energy Technology Data Exchange (ETDEWEB)

Straka, P.; Buchtele, J. [Academy of Sciences of the Czech Republic, Prague (Czech Republic)

2000-07-01

The surface and sorptional properties of carbonaceous materials prepared from brown coal and their relation to minerals content and coal bulk density as technologically important parameters of starting coal were described. Chars were prepared from brown coal of North Bohemian Brown Coal District and activated with CO{sub 2} in a large-scale laboratory unit. Their surface and sorptive properties were investigated. It was found that mineral matter/ash content favourably affects the mesoporosity development in chars/activated chars as the sorption capacity increased with increasing ash content in chars. No influence of ash content on the macroporosity was observed. With the activated chars, both the inner surface and sorption capacity showed the maximum in the burn-off range of 41-64%. Optimization of the process is discussed.

Adenovirus mediated homozygous endometrial epithelial Pten deletion results in aggressive endometrial carcinoma

Energy Technology Data Exchange (ETDEWEB)

Joshi, Ayesha; Ellenson, Lora Hedrick, E-mail: lora.ellenson@med.cornell.edu

2011-07-01

Pten is the most frequently mutated gene in uterine endometriod carcinoma (UEC) and its precursor complex atypical hyperplasia (CAH). Because the mutation frequency is similar in CAH and UEC, Pten mutations are thought to occur relatively early in endometrial tumorigenesis. Previous work from our laboratory using the Pten{sup +/-} mouse model has demonstrated somatic inactivation of the wild type allele of Pten in both CAH and UEC. In the present study, we injected adenoviruses expressing Cre into the uterine lumen of adult Pten floxed mice in an attempt to somatically delete both alleles of Pten specifically in the endometrium. Our results demonstrate that biallelic inactivation of Pten results in an increased incidence of carcinoma as compared to the Pten{sup +/-} mouse model. In addition, the carcinomas were more aggressive with extension beyond the uterus into adjacent tissues and were associated with decreased expression of nuclear ER{alpha} as compared to associated CAH. Primary cultures of epithelial and stromal cells were prepared from uteri of Pten floxed mice and Pten was deleted in vitro using Cre expressing adenovirus. Pten deletion was evident in both the epithelial and stromal cells and the treatment of the primary cultures with estrogen had different effects on Akt activation as well as Cyclin D3 expression in the two purified components. This study demonstrates that somatic biallelic inactivation of Pten in endometrial epithelium in vivo results in an increased incidence and aggressiveness of endometrial carcinoma compared to mice carrying a germline deletion of one allele and provides an important in vivo and in vitro model system for understanding the genetic underpinnings of endometrial carcinoma.

Adenovirus mediated homozygous endometrial epithelial Pten deletion results in aggressive endometrial carcinoma

International Nuclear Information System (INIS)

Joshi, Ayesha; Ellenson, Lora Hedrick

2011-01-01

Pten is the most frequently mutated gene in uterine endometriod carcinoma (UEC) and its precursor complex atypical hyperplasia (CAH). Because the mutation frequency is similar in CAH and UEC, Pten mutations are thought to occur relatively early in endometrial tumorigenesis. Previous work from our laboratory using the Pten +/- mouse model has demonstrated somatic inactivation of the wild type allele of Pten in both CAH and UEC. In the present study, we injected adenoviruses expressing Cre into the uterine lumen of adult Pten floxed mice in an attempt to somatically delete both alleles of Pten specifically in the endometrium. Our results demonstrate that biallelic inactivation of Pten results in an increased incidence of carcinoma as compared to the Pten +/- mouse model. In addition, the carcinomas were more aggressive with extension beyond the uterus into adjacent tissues and were associated with decreased expression of nuclear ERα as compared to associated CAH. Primary cultures of epithelial and stromal cells were prepared from uteri of Pten floxed mice and Pten was deleted in vitro using Cre expressing adenovirus. Pten deletion was evident in both the epithelial and stromal cells and the treatment of the primary cultures with estrogen had different effects on Akt activation as well as Cyclin D3 expression in the two purified components. This study demonstrates that somatic biallelic inactivation of Pten in endometrial epithelium in vivo results in an increased incidence and aggressiveness of endometrial carcinoma compared to mice carrying a germline deletion of one allele and provides an important in vivo and in vitro model system for understanding the genetic underpinnings of endometrial carcinoma.

Detection of mitochondrial DNA deletions in human cells induced by ionizing radiation

International Nuclear Information System (INIS)

Liu, Qing-Jie; Feng, Jiang-Bin; Lu, Xue; Li, Yu-Wen; Chen, De-Qing

2008-01-01

Full text: Purpose: To screen the novel mitochondrial DNA (mt DNA) deletions induced by ionizing radiation, and analyze the several kinds of mt DNA deletions, known as 3895 bp, 889 bp, 7436 bp or 4934 bp deletions. Methods: Long-range PCR with two pairs of primers, which could amplify the whole human mitochondrial genome, was used to analyze the lymphoblastoid cell line before and after exposed to 10 Gy 60 Co γ-rays. The limited condition PCR was used to certify the possible mt DNA deletion showed by long-range PCR. The PCR products were purified, cloned, sequenced and the sequence result were BLASTed. Regular PCR or nest-PCR were used to analyze the 3895 bp, 889 bp, 7436 bp or 4934 bp deletions before and after radiation exposure. The final PCR products were purified, sequenced and BALSTed on standard human mitochondrial genome sequence database. Results: (1) The predicted bands of mt DNA were observed on the control cell lines, and the possible mt DNA deletions were also detected on the irradiated cell lines. The deletions were certified by the limited condition PCR. The sequence BLAST results of the cloned PCR products showed that two kinds of deletions, 7455 bp deletion (nt 475-7929 in heavy strand) and 9225 bp deletion (nt 7714-369 in heavy strand), which were between two 8 bp direct repeats. Further bioinformatics analysis showed that the two deletions were novel deletions. (2) The 889 bp and 3895 bp deletion were not detected for the cell line samples not exposed to 60 Co γ-rays. The 889 bp and 3895 bp deletions were detected on samples exposed to 10 Gy 60 Co γ-rays. The BALST results showed that the 889 bp and 3895 deletions flanked nt 11688 bp-12576, nt 548 bp-4443, respectively. The 7436 bp deletion levels were not changed much before and after irradiation. (3) The 4934 bp deletions had the same pattern as 7436 bp deletion, but it could induced by radiation. Conclusions: Ionizing radiation could induce the human lymphoblastoid two novel mt DNA

EVIDENCE FOR ACCRETION IN A NEARBY, YOUNG BROWN DWARF

International Nuclear Information System (INIS)

Reiners, Ansgar

2009-01-01

We report on the discovery of the young, nearby, brown dwarf 2MASS J0041353-562112. The object has a spectral type of M7.5; it shows Li absorption and signatures of accretion, which implies that it still has a disk and suggests an age below 10 Myr. The space motion vector and position on the sky indicate that the brown dwarf is probably a member of the ∼20 Myr old Tuc-Hor association, or that it may be an ejected member of the ∼12 Myr old β Pic association; both would imply that 2MASS J0041353-562112 may in fact be older than 10 Myr. No accreting star or brown dwarf was previously known in these associations. Assuming an age of 10 Myr, the brown dwarf has a mass of about 30 M Jup and is located at 35 pc distance. The newly discovered object is the closest accreting brown dwarf known. Its membership to an association older than 10 Myr implies that either disks in brown dwarfs can survive as long as in more massive stars, perhaps even longer, or that star formation in Tuc-Hor or β Pic occurred more recently than previously thought. The history and evolution of this object can provide new fundamental insight into the formation process of stars, brown dwarfs, and planets.

The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion

Energy Technology Data Exchange (ETDEWEB)

Peoples, R.; Perez-Jurado, L.; Francke, U.; Yu-Ker Wang [Stanford Univ. Medical Center, CA (United States); Kaplan, P. [Children`s Hospital of Philadelphia, PA (United States)

1996-06-01

Williams syndrome (WS) is a developmental disorder with multiple system manifestations, including supraval var aortic stenosis (SVAS), peripheral pulmonic stenosis, connective tissue abnormalities, short stature, characteristic personality profile and cognitive deficits, and variable hypercalcemia in infancy. It is caused by heterozygosity for a chromosomal deletion of part of band 7q11.23 including the elastin locus (ELN). Since disruption of the ELN gene causes autosomal dominant SVAS, it is assumed that ELN haploinsufficiency is responsible for the cardiovascular features of WS. The deletion that extends from the ELN locus in both directions is {ge}200 kb in size, although estimates of {ge}2 Mb are suggested by high-resolution chromosome banding and physical mapping studies. We have searched for additional dosage-sensitive genes within the deletion that may be responsible for the noncardiovascular features. We report here that the gene for replication factor C subunit 2 (RFC2) maps within the WS deletion region and was found to be deleted in all of 18 WS patients studied. The protein product of RFC2 is part of a multimeric complex involved in DNA elongation during replication. 14 refs., 3 figs.

Fermented Brown Rice Flour as Functional Food Ingredient

OpenAIRE

Ilowefah, Muna; Chinma, Chiemela; Bakar, Jamilah; Ghazali, Hasanah; Muhammad, Kharidah; Makeri, Mohammad

2014-01-01

As fermentation could reduce the negative effects of bran on final cereal products, the utilization of whole-cereal flour is recommended, such as brown rice flour as a functional food ingredient. Therefore, this study aimed to investigate the effect of fermented brown rice flour on white rice flour, white rice batter and its steamed bread qualities. Brown rice batter was fermented using commercial baker?s yeast (Eagle brand) according to the optimum conditions for moderate acidity (pH 5.5) to...

SURPRISINGLY WEAK MAGNETISM ON YOUNG ACCRETING BROWN DWARFS

International Nuclear Information System (INIS)

Reiners, A.; Basri, G.; Christensen, U. R.

2009-01-01

We have measured the surface magnetic flux on four accreting young brown dwarfs and one nonaccreting young very low mass (VLM) star utilizing high-resolution spectra of absorption lines of the FeH molecule. A magnetic field of 1-2 kG had been proposed for one of the brown dwarfs, Two Micron All Sky Survey (2MASS) J1207334-393254, because of its similarities to higher mass T Tauri stars as manifested in accretion and the presence of a jet. We do not find clear evidence for a kilogauss field in any of our young brown dwarfs but do find a 2 kG field on the young VLM star. Our 3σ upper limit for the magnetic flux in 2MASS J1207334-393254 just reaches 1 kG. We estimate the magnetic field required for accretion in young brown dwarfs given the observed rotations, and find that fields of only a few hundred gauss are sufficient for magnetospheric accretion. This predicted value is less than our observed upper limit. We conclude that magnetic fields in young brown dwarfs are a factor of 5 or more lower than in young stars of about one solar mass, and in older stars with spectral types similar to our young brown dwarfs. It is interesting that, during the first few million years, the fields scale down with mass in line with what is needed for magnetospheric accretion, yet no such scaling is observed at later ages within the same effective temperature range. This scaling is opposite to the trend in rotation, with shorter rotation periods for very young accreting brown dwarfs compared with accreting solar-mass objects (and very low Rossby numbers in all cases). We speculate that in young objects a deeper intrinsic connection may exist between magnetospheric accretion and magnetic field strength, or that magnetic field generation in brown dwarfs may be less efficient than in stars. Neither of these currently has an easy physical explanation.

Effect of the deletion of qmoABC and the promoter distal gene encoding a hypothetical protein on sulfate-reduction in Desulfovibrio vulgaris Hildenborough

Energy Technology Data Exchange (ETDEWEB)

Zane, Grant M.; Yen, Huei-chi Bill; Wall, Judy D.

2010-03-18

The pathway of electrons required for the reduction of sulfate in sulfate-reducing bacteria (SRB) is not yet fully characterized. In order to determine the role of a transmembrane protein complex suggested to be involved in this process, a deletion of Desulfovibrio vulgaris Hildenborough was created by marker exchange mutagenesis that eliminated four genes putatively encoding the QmoABC complex and a hypothetical protein (DVU0851). The Qmo complex (quinone-interacting membrane-bound oxidoreductase) is proposed to be responsible for transporting electrons to the dissimilatory adenosine-5?phosphosulfate (APS) reductase in SRB. In support of the predicted role of this complex, the deletion mutant was unable to grow using sulfate as its sole electron acceptor with a range of electron donors. To explore a possible role for the hypothetical protein in sulfate reduction, a second mutant was constructed that had lost only the gene that codes for DVU0851. The second constructed mutant grew with sulfate as the sole electron acceptor; however, there was a lag that was not present with the wild-type or complemented strain. Neither deletion strain was significantly impaired for growth with sulfite or thiosulfate as terminal electron acceptor. Complementation of the D(qmoABC-DVU0851) mutant with all four genes or only the qmoABC genes restored its ability to grow by sulfate respiration. These results confirmed the prediction that the Qmo complex is in the electron pathway for sulfate-reduction and revealed that no other transmembrane complex could compensate when Qmo was lacking.

Browns Ferry fire

International Nuclear Information System (INIS)

Harkleroad, J.R.

1983-01-01

A synopsis of the March 22, 1975 fire at Browns Ferry Nuclear Plant is discussed. Emphasis is placed on events prior to and during the fire. How the fire started, fire fighting activities, fire and smoke development, and restoration activities are discussed

Unusual Slowly Rotating Brown Dwarfs Discovered through Precision Spitzer Photometry

Science.gov (United States)

Heinze, Aren; Metchev, S.

2014-01-01

Many brown dwarfs exhibit low-amplitude rotationally modulated variability due to photospheric inhomogeneities caused by condensate clouds in their atmospheres. The Spitzer Space Telescope 'Weather on Other Worlds' (WoW) project has monitored 44 brown dwarfs at unprecedented photometric precision from space. We present one of several important new results from WoW: the discovery of brown dwarfs with unexpectedly slow rotation periods. While most brown dwarfs have periods of 2-12 hours, we have identified two with well-constrained periods of 13±1 and >20 hours, respectively, and 2 others that show more tentative evidence of longer than 20-hour periods. By serving as almost non-rotating standards, these objects will allow more accurate calibration of spectroscopic measurements of brown dwarfs' projected rotational velocities. The existence of such slowly-rotating objects also constrains models of brown dwarf formation and angular momentum evolution.

Brown Spider (Loxosceles genus Venom Toxins: Tools for Biological Purposes

Directory of Open Access Journals (Sweden)

Andrea Senff-Ribeiro

2011-03-01

Full Text Available Venomous animals use their venoms as tools for defense or predation. These venoms are complex mixtures, mainly enriched of proteic toxins or peptides with several, and different, biological activities. In general, spider venom is rich in biologically active molecules that are useful in experimental protocols for pharmacology, biochemistry, cell biology and immunology, as well as putative tools for biotechnology and industries. Spider venoms have recently garnered much attention from several research groups worldwide. Brown spider (Loxosceles genus venom is enriched in low molecular mass proteins (5–40 kDa. Although their venom is produced in minute volumes (a few microliters, and contain only tens of micrograms of protein, the use of techniques based on molecular biology and proteomic analysis has afforded rational projects in the area and permitted the discovery and identification of a great number of novel toxins. The brown spider phospholipase-D family is undoubtedly the most investigated and characterized, although other important toxins, such as low molecular mass insecticidal peptides, metalloproteases and hyaluronidases have also been identified and featured in literature. The molecular pathways of the action of these toxins have been reported and brought new insights in the field of biotechnology. Herein, we shall see how recent reports describing discoveries in the area of brown spider venom have expanded biotechnological uses of molecules identified in these venoms, with special emphasis on the construction of a cDNA library for venom glands, transcriptome analysis, proteomic projects, recombinant expression of different proteic toxins, and finally structural descriptions based on crystallography of toxins.

Recent advances in the understanding of brown spider venoms: From the biology of spiders to the molecular mechanisms of toxins.

Science.gov (United States)

Gremski, Luiza Helena; Trevisan-Silva, Dilza; Ferrer, Valéria Pereira; Matsubara, Fernando Hitomi; Meissner, Gabriel Otto; Wille, Ana Carolina Martins; Vuitika, Larissa; Dias-Lopes, Camila; Ullah, Anwar; de Moraes, Fábio Rogério; Chávez-Olórtegui, Carlos; Barbaro, Katia Cristina; Murakami, Mario Tyago; Arni, Raghuvir Krishnaswamy; Senff-Ribeiro, Andrea; Chaim, Olga Meiri; Veiga, Silvio Sanches

2014-06-01

The Loxosceles genus spiders (the brown spiders) are encountered in all the continents, and the clinical manifestations following spider bites include skin necrosis with gravitational lesion spreading and occasional systemic manifestations, such as intravascular hemolysis, thrombocytopenia and acute renal failure. Brown spider venoms are complex mixtures of toxins especially enriched in three molecular families: the phospholipases D, astacin-like metalloproteases and Inhibitor Cystine Knot (ICK) peptides. Other toxins with low level of expression also present in the venom include the serine proteases, serine protease inhibitors, hyaluronidases, allergen factors and translationally controlled tumor protein (TCTP). The mechanisms by which the Loxosceles venoms act and exert their noxious effects are not fully understood. Except for the brown spider venom phospholipase D, which causes dermonecrosis, hemolysis, thrombocytopenia and renal failure, the pathological activities of the other venom toxins remain unclear. The objective of the present review is to provide insights into the brown spider venoms and loxoscelism based on recent results. These insights include the biology of brown spiders, the clinical features of loxoscelism and the diagnosis and therapy of brown spider bites. Regarding the brown spider venom, this review includes a description of the novel toxins revealed by molecular biology and proteomics techniques, the data regarding three-dimensional toxin structures, and the mechanism of action of these molecules. Finally, the biotechnological applications of the venom components, especially for those toxins reported as recombinant molecules, and the challenges for future study are discussed. Copyright © 2014 Elsevier Ltd. All rights reserved.

Small regions of overlapping deletions on 6q26 in human astrocytic tumours identified using chromosome 6 tile path array CGH

Science.gov (United States)

Ichimura, Koichi; Mungall, Andrew J; Fiegler, Heike; Pearson, Danita M.; Dunham, Ian; Carter, Nigel P; Collins, V. Peter

2009-01-01

Deletions of chromosome 6 are a common abnormality in diverse human malignancies including astrocytic tumours, suggesting the presence of tumour suppressor genes (TSG). In order to help identify candidate TSGs, we have constructed a chromosome 6 tile path microarray. The array contains 1780 clones (778 PACs and 1002 BACs) that cover 98.3% of the published chromosome 6 sequences. A total of 104 adult astrocytic tumours (10 diffuse astrocytomas, 30 anaplastic astrocytomas (AA), 64 glioblastomas (GB)) were analysed using this array. Single copy number change was successfully detected and the result was in general concordant with a microsatellite analysis. The pattern of copy number change was complex with multiple interstitial deletions/gains. However, a predominance of telomeric 6q deletions was seen. Two small common and overlapping regions of deletion at 6q26 were identified. One was 1002 kb in size and contained PACRG and QKI, while the second was 199 kb and harbours a single gene, ARID1B. The data show that the chromosome 6 tile path array is useful in mapping copy number changes with high resolution and accuracy. We confirmed the high frequency of chromosome 6 deletions in AA and GB, and identified two novel commonly deleted regions that may harbour TSGs. PMID:16205629

Ku80-deleted cells are defective at base excision repair

International Nuclear Information System (INIS)

Li, Han; Marple, Teresa; Hasty, Paul

2013-01-01

Graphical abstract: - Highlights: • Ku80-deleted cells are hypersensitive to ROS and alkylating agents. • Cells deleted for Ku80, but not Ku70 or Lig4, have reduced BER capacity. • OGG1 rescues hypersensitivity to H 2 O 2 and paraquat in Ku80-mutant cells. • Cells deleted for Ku80, but not Lig4, are defective at repairing AP sites. • Cells deleted for Ku80, but not Lig4 or Brca2 exon 27, exhibit increased PAR. - Abstract: Ku80 forms a heterodimer with Ku70, called Ku, that repairs DNA double-strand breaks (DSBs) via the nonhomologous end joining (NHEJ) pathway. As a consequence of deleting NHEJ, Ku80-mutant cells are hypersensitive to agents that cause DNA DSBs like ionizing radiation. Here we show that Ku80 deletion also decreased resistance to ROS and alkylating agents that typically cause base lesions and single-strand breaks (SSBs). This is unusual since base excision repair (BER), not NHEJ, typically repairs these types of lesions. However, we show that deletion of another NHEJ protein, DNA ligase IV (Lig4), did not cause hypersensitivity to these agents. In addition, the ROS and alkylating agents did not induce γ-H2AX foci that are diagnostic of DSBs. Furthermore, deletion of Ku80, but not Lig4 or Ku70, reduced BER capacity. Ku80 deletion also impaired BER at the initial lesion recognition/strand scission step; thus, involvement of a DSB is unlikely. Therefore, our data suggests that Ku80 deletion impairs BER via a mechanism that does not repair DSBs

Ku80-deleted cells are defective at base excision repair

Energy Technology Data Exchange (ETDEWEB)

Li, Han [The University of Texas Health Science Center at San Antonio, The Institute of Biotechnology, The Department of Molecular Medicine, 15355 Lambda Drive, San Antonio, TX 78245-3207 (United States); Tumor Suppression Group, Spanish National Cancer Research Centre (CNIO), Madrid 28029 (Spain); Marple, Teresa [The University of Texas Health Science Center at San Antonio, The Institute of Biotechnology, The Department of Molecular Medicine, 15355 Lambda Drive, San Antonio, TX 78245-3207 (United States); Hasty, Paul, E-mail: hastye@uthscsa.edu [The University of Texas Health Science Center at San Antonio, The Institute of Biotechnology, The Department of Molecular Medicine, 15355 Lambda Drive, San Antonio, TX 78245-3207 (United States); Tumor Suppression Group, Spanish National Cancer Research Centre (CNIO), Madrid 28029 (Spain)

2013-05-15

Graphical abstract: - Highlights: • Ku80-deleted cells are hypersensitive to ROS and alkylating agents. • Cells deleted for Ku80, but not Ku70 or Lig4, have reduced BER capacity. • OGG1 rescues hypersensitivity to H{sub 2}O{sub 2} and paraquat in Ku80-mutant cells. • Cells deleted for Ku80, but not Lig4, are defective at repairing AP sites. • Cells deleted for Ku80, but not Lig4 or Brca2 exon 27, exhibit increased PAR. - Abstract: Ku80 forms a heterodimer with Ku70, called Ku, that repairs DNA double-strand breaks (DSBs) via the nonhomologous end joining (NHEJ) pathway. As a consequence of deleting NHEJ, Ku80-mutant cells are hypersensitive to agents that cause DNA DSBs like ionizing radiation. Here we show that Ku80 deletion also decreased resistance to ROS and alkylating agents that typically cause base lesions and single-strand breaks (SSBs). This is unusual since base excision repair (BER), not NHEJ, typically repairs these types of lesions. However, we show that deletion of another NHEJ protein, DNA ligase IV (Lig4), did not cause hypersensitivity to these agents. In addition, the ROS and alkylating agents did not induce γ-H2AX foci that are diagnostic of DSBs. Furthermore, deletion of Ku80, but not Lig4 or Ku70, reduced BER capacity. Ku80 deletion also impaired BER at the initial lesion recognition/strand scission step; thus, involvement of a DSB is unlikely. Therefore, our data suggests that Ku80 deletion impairs BER via a mechanism that does not repair DSBs.

4977-bp mitochondrial DNA deletion in infertile patients with varicocele.

Science.gov (United States)

Gashti, N G; Salehi, Z; Madani, A H; Dalivandan, S T

2014-04-01

Varicocele is the abnormal inflexion and distension of veins of the pampiniform plexus within spermatic cord and is one of the amendable causes of male infertility. It can increase reactive oxygen species (ROS) production in semen and cause oxidative stress. The purpose of this study was to analyse spermatozoa mtDNA 4977-bp deletion in infertile men with varicocele. To detect 4977-bp deletion in spermatozoa mtDNA, semen samples of 60 infertile patients with clinical varicocele and 90 normal men from northern Iran were prepared. After extraction of spermatozoa total DNA, Gap polymerase chain reaction (Gap PCR) was performed. 4977-bp deletion was observed in 81.66% of patients with varicocele, while approximately 15.55% of controls had this deletion. As spermatozoa from patients with varicocele had a high frequency of occurrence of 4977-bp deletion in mtDNA [OR = 24.18, 95% confidence interval (CI) = 10.15-57.57, P deletion in spermatozoa and cause infertility in north Iranian men. However, to determine the relation between sperm mtDNA 4977-bp deletion and varicocele-induced infertility, larger population-based studies are needed. It is concluded that there is an association between sperm mtDNA 4977-bp deletion and varicocele-induced infertility in the population studied. © 2013 Blackwell Verlag GmbH.

Microarray-based ultra-high resolution discovery of genomic deletion mutations

Science.gov (United States)

2014-01-01

Background Oligonucleotide microarray-based comparative genomic hybridization (CGH) offers an attractive possible route for the rapid and cost-effective genome-wide discovery of deletion mutations. CGH typically involves comparison of the hybridization intensities of genomic DNA samples with microarray chip representations of entire genomes, and has widespread potential application in experimental research and medical diagnostics. However, the power to detect small deletions is low. Results Here we use a graduated series of Arabidopsis thaliana genomic deletion mutations (of sizes ranging from 4 bp to ~5 kb) to optimize CGH-based genomic deletion detection. We show that the power to detect smaller deletions (4, 28 and 104 bp) depends upon oligonucleotide density (essentially the number of genome-representative oligonucleotides on the microarray chip), and determine the oligonucleotide spacings necessary to guarantee detection of deletions of specified size. Conclusions Our findings will enhance a wide range of research and clinical applications, and in particular will aid in the discovery of genomic deletions in the absence of a priori knowledge of their existence. PMID:24655320

Deletion 1q43 encompassing only CHRM3 in a patient with autistic disorder.

Science.gov (United States)

Petersen, Andrea Klunder; Ahmad, Ausaf; Shafiq, Mustafa; Brown-Kipphut, Brigette; Fong, Chin-To; Anwar Iqbal, M

2013-02-01

Deletions on the distal portion of the long arm of chromosome 1 result in complex and highly variable clinical phenotypes which include intellectual disability, autism, seizures, microcephaly/craniofacial dysmorphology, corpus callosal agenesis/hypogenesis, cardiac and genital anomalies, hand and foot abnormalities and short stature. Genotype-phenotype correlation reported a minimum region of 2 Mb at 1q43-q44. We report on a 3 ½ year old male patient diagnosed with autistic disorder who has social withdrawal, eating problems, repetitive stereotypic behaviors including self-injurious head banging and hair pulling, and no seizures, anxiety, or mood swings. Array comparative genomic hybridization (aCGH) showed an interstitial deletion of 473 kb at 1q43 region (239,412,391-239,885,394; NCBI build37/hg19) harboring only CHRM3 (Acetylcholine Receptor, Muscarinic, 3; OMIM: 118494). Recently, another case with a de novo interstitial deletion of 911 kb at 1q43 encompassing three genes including CHRM3 was reported. The M3 muscarinic receptor influences a multitude of central and peripheral nervous system processes via its interaction with acetylcholine and may be an important modulator of behavior, learning and memory. We propose CHRM3 as a candidate gene responsible for our patient's specific phenotype as well as the overlapping phenotypic features of other patients with 1q43 or 1q43-q44 deletions. Copyright © 2013. Published by Elsevier Masson SAS.

41 CFR 51-2.3 - Notice of proposed addition or deletion.

Science.gov (United States)

2010-07-01

... addition or deletion. 51-2.3 Section 51-2.3 Public Contracts and Property Management Other Provisions... or deletion. At least 30 days prior to the Committee's consideration of the addition or deletion of a... Register announcing the proposed addition or deletion and providing interested persons an opportunity to...

Platform construction of molecular breeding for utilization of brown macroalgae.

Science.gov (United States)

Takagi, Toshiyuki; Kuroda, Kouichi; Ueda, Mitsuyoshi

2018-01-01

Brown macroalgae are characterized by a large size and high productivity without requiring arable land, fresh water, and fertilizer. Furthermore, since brown macroalgae contain little or no lignin, simple biorefinery processing can efficiently produce sugars from this material. Therefore, brown macroalgae have attracted attention as an alternative feedstock for bioethanol production. However, the utilization of biotechnologies previously developed for terrestrial biomass processing results in difficulties in the bioconversion of brown macroalgae. Recently, several studies have developed biotechnologies for using major carbohydrates of brown macroalgae, such as laminarin, mannitol, and alginate. This review focuses on these fermentation biotechnologies using natural or engineered microorganisms. Copyright © 2017 The Society for Biotechnology, Japan. Published by Elsevier B.V. All rights reserved.

Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions.

Science.gov (United States)

Hannes, Femke; Van Houdt, Jeroen; Quarrell, Oliver W; Poot, Martin; Hochstenbach, Ron; Fryns, Jean-Pierre; Vermeesch, Joris R

2010-12-01

Constitutional developmental disorders are frequently caused by terminal chromosomal deletions. The mechanisms and/or architectural features that might underlie those chromosome breakages remain largely unexplored. Because telomeres are the vital DNA protein complexes stabilizing linear chromosomes against chromosome degradation, fusion, and incomplete replication, those terminal-deleted chromosomes acquired new telomeres either by telomere healing or by telomere capture. To unravel the mechanisms leading to chromosomal breakage and healing, we sequenced nine chromosome 4p terminal deletion boundaries. A computational analysis of the breakpoint flanking region, including 12 previously published pure terminal breakage sites, was performed in order to identify architectural features that might be involved in this process. All terminal 4p truncations were likely stabilized by telomerase-mediated telomere healing. In the majority of breakpoints multiple genetic elements have a potential to induce secondary structures and an enrichment in replication stalling site motifs were identified. These findings suggest DNA replication stalling-induced chromosome breakage during early development is the first mechanistic step leading toward terminal deletion syndromes. © 2010 Wiley-Liss, Inc.

A robust impact assessment that informs actionable climate change adaptation: future sunburn browning risk in apple.

Science.gov (United States)

Webb, Leanne; Darbyshire, Rebecca; Erwin, Tim; Goodwin, Ian

2017-05-01

Climate change impact assessments are predominantly undertaken for the purpose of informing future adaptation decisions. Often, the complexity of the methodology hinders the actionable outcomes. The approach used here illustrates the importance of considering uncertainty in future climate projections, at the same time providing robust and simple to interpret information for decision-makers. By quantifying current and future exposure of Royal Gala apple to damaging temperature extremes across ten important pome fruit-growing locations in Australia, differences in impact to ripening fruit are highlighted, with, by the end of the twenty-first century, some locations maintaining no sunburn browning risk, while others potentially experiencing the risk for the majority of the January ripening period. Installation of over-tree netting can reduce the impact of sunburn browning. The benefits from employing this management option varied across the ten study locations. The two approaches explored to assist decision-makers assess this information (a) using sunburn browning risk analogues and (b) through identifying hypothetical sunburn browning risk thresholds, resulted in varying recommendations for introducing over-tree netting. These recommendations were location and future time period dependent with some sites showing no benefit for sunburn protection from nets even by the end of the twenty-first century and others already deriving benefits from employing this adaptation option. Potential best and worst cases of sunburn browning risk and its potential reduction through introduction of over-tree nets were explored. The range of results presented highlights the importance of addressing uncertainty in climate projections that result from different global climate models and possible future emission pathways.

A robust impact assessment that informs actionable climate change adaptation: future sunburn browning risk in apple

Science.gov (United States)

Webb, Leanne; Darbyshire, Rebecca; Erwin, Tim; Goodwin, Ian

2017-05-01

Climate change impact assessments are predominantly undertaken for the purpose of informing future adaptation decisions. Often, the complexity of the methodology hinders the actionable outcomes. The approach used here illustrates the importance of considering uncertainty in future climate projections, at the same time providing robust and simple to interpret information for decision-makers. By quantifying current and future exposure of Royal Gala apple to damaging temperature extremes across ten important pome fruit-growing locations in Australia, differences in impact to ripening fruit are highlighted, with, by the end of the twenty-first century, some locations maintaining no sunburn browning risk, while others potentially experiencing the risk for the majority of the January ripening period. Installation of over-tree netting can reduce the impact of sunburn browning. The benefits from employing this management option varied across the ten study locations. The two approaches explored to assist decision-makers assess this information (a) using sunburn browning risk analogues and (b) through identifying hypothetical sunburn browning risk thresholds, resulted in varying recommendations for introducing over-tree netting. These recommendations were location and future time period dependent with some sites showing no benefit for sunburn protection from nets even by the end of the twenty-first century and others already deriving benefits from employing this adaptation option. Potential best and worst cases of sunburn browning risk and its potential reduction through introduction of over-tree nets were explored. The range of results presented highlights the importance of addressing uncertainty in climate projections that result from different global climate models and possible future emission pathways.

Does the introduced brook trout ( Salvelinus fontinalis) affect growth of the native brown trout ( Salmo trutta)?

Science.gov (United States)

Korsu, Kai; Huusko, Ari; Muotka, Timo

2009-03-01

Non-native brook trout have become widely established in North European streams. We combined evidence from an artificial-stream experiment and drainage-scale field surveys to examine whether brook trout suppressed the growth of the native brown trout (age 0 to age 2). Our experimental results demonstrated that brown trout were unaffected by the presence of brook trout but that brook trout showed reduced growth in the presence of brown trout. However, the growth reduction only appeared in the experimental setting, indicating that the reduced spatial constraint of the experimental system may have forced the fish to unnaturally intense interactions. Indeed, in the field, no effect of either species on the growth of the putative competitor was detected. These results caution against uncritical acceptance of findings from small-scale experiments because they rarely scale up to more complex field situations. This and earlier work suggest that the establishment of brook trout in North European streams has taken place mainly because of the availability of unoccupied (or underutilized) niche space, rather than as a result of species trait combinations or interspecific competition per se.

How Glassy States Affect Brown Carbon Production?

Science.gov (United States)

Liu, P.; Li, Y.; Wang, Y.; Bateman, A. P.; Zhang, Y.; Gong, Z.; Gilles, M. K.; Martin, S. T.

2015-12-01

Secondary organic material (SOM) can become light-absorbing (i.e. brown carbon) via multiphase reactions with nitrogen-containing species such as ammonia and amines. The physical states of SOM, however, potentially slow the diffusion of reactant molecules in organic matrix under conditions that semisolids or solids prevail, thus inhibiting the browning reaction pathways. In this study, the physical states and the in-particle diffusivity were investigated by measuring the evaporation kinetics of both water and organics from aromatic-derived SOMs using a quartz-crystal-microbalance (QCM). The results indicate that the SOMs derived from aromatic precursors toluene and m-xylene became solid (glassy) and the in particle diffusion was significantly impeded for sufficiently low relative humidity ( toluene-derived SOM after ammonia exposure at varied RHs. The results suggest that the production of light-absorbing nitrogen-containing compounds from multiphase reactions with ammonia was kinetically limited in the glassy organic matrix, which otherwise produce brown carbon. The results of this study have significant implications for production and optical properties of brown carbon in urban atmospheres that ultimately influence the climate and tropospheric photochemistry.

Movement and mortality of stocked brown trout in a stream

DEFF Research Database (Denmark)

Aarestrup, Kim; Jepsen, Niels; Koed, Anders

2005-01-01

The movement and mortality of stocked brown trout Salmo trutta were investigated using radio telemetry. Four brown trout left the study area whereas the remaining fish were stationary. After 5 weeks, 13 out of 50 tagged brown trout were still alive in the stream. Surviving fish had a significantly...

Restricting glycolysis impairs brown adipocyte glucose and oxygen consumption

DEFF Research Database (Denmark)

Winther, Sally; Isidor, Marie Sophie; Basse, Astrid Linde

2018-01-01

During thermogenic activation, brown adipocytes take up large amounts of glucose. In addition, cold stimulation leads to an upregulation of glycolytic enzymes. Here we have investigated the importance of glycolysis for brown adipocyte glucose consumption and thermogenesis. Using siRNA-mediated kn......During thermogenic activation, brown adipocytes take up large amounts of glucose. In addition, cold stimulation leads to an upregulation of glycolytic enzymes. Here we have investigated the importance of glycolysis for brown adipocyte glucose consumption and thermogenesis. Using si...... of glycolysis, i.e., hexokinase 2 (HK2) and pyruvate kinase M (PKM), respectively, decreased glucose uptake and ISO-stimulated oxygen consumption. HK2 knockdown had a more severe effect, which, in contrast to PKM knockdown, could not be rescued by supplementation with pyruvate. Hence, brown adipocytes rely...... on glucose consumption and glycolytic flux to achieve maximum thermogenic output, with glycolysis likely supporting thermogenesis not only by pyruvate formation but also by supplying intermediates for efferent metabolic pathways....

Browns Ferry charcoal adsorber incident

International Nuclear Information System (INIS)

Mays, G.T.

1979-01-01

The article reviews the temperature excursion in the charcoal adsorber beds of the Browns Ferry Unit 3 off-gas system that occurred on July 17, 1977. Significant temperature increases were experienced in the charcoal adsorber beds when charcoal fines were ignited by the ignition of a combustible mixture of hydrogen and oxygen in the off-gas system. The Browns Ferry off-gas system is described, and events leading up to and surrounding the incident are discussed. The follow-up investigation by Tennessee Valley Authority and General Electric Company personnel and their recommendations for system and operational modifications are summarized

Genetics Home Reference: 17q12 deletion syndrome

Science.gov (United States)

... with 17q12 deletion syndrome have delayed development (particularly speech and language delays), intellectual disability, or behavioral or psychiatric disorders. Behavioral and psychiatric conditions that have been reported in people with 17q12 deletion syndrome include autism ...

47 CFR 76.1601 - Deletion or repositioning of broadcast signals.

Science.gov (United States)

2010-10-01

... 47 Telecommunication 4 2010-10-01 2010-10-01 false Deletion or repositioning of broadcast signals... RADIO SERVICES MULTICHANNEL VIDEO AND CABLE TELEVISION SERVICE Notices § 76.1601 Deletion or... to § 76.1601: No deletion or repositioning of a local commercial television station shall occur...

Attenuation of monkeypox virus by deletion of genomic regions

Science.gov (United States)

Lopera, Juan G.; Falendysz, Elizabeth A.; Rocke, Tonie E.; Osorio, Jorge E.

2015-01-01

Monkeypox virus (MPXV) is an emerging pathogen from Africa that causes disease similar to smallpox. Two clades with different geographic distributions and virulence have been described. Here, we utilized bioinformatic tools to identify genomic regions in MPXV containing multiple virulence genes and explored their roles in pathogenicity; two selected regions were then deleted singularly or in combination. In vitro and in vivostudies indicated that these regions play a significant role in MPXV replication, tissue spread, and mortality in mice. Interestingly, while deletion of either region led to decreased virulence in mice, one region had no effect on in vitro replication. Deletion of both regions simultaneously also reduced cell culture replication and significantly increased the attenuation in vivo over either single deletion. Attenuated MPXV with genomic deletions present a safe and efficacious tool in the study of MPX pathogenesis and in the identification of genetic factors associated with virulence.

Amino-acid composition after loop deletion drives domain swapping.

Science.gov (United States)

Nandwani, Neha; Surana, Parag; Udgaonkar, Jayant B; Das, Ranabir; Gosavi, Shachi

2017-10-01

Rational engineering of a protein to enable domain swapping requires an understanding of the sequence, structural and energetic factors that favor the domain-swapped oligomer over the monomer. While it is known that the deletion of loops between β-strands can promote domain swapping, the spliced sequence at the position of the loop deletion is thought to have a minimal role to play in such domain swapping. Here, two loop-deletion mutants of the non-domain-swapping protein monellin, frame-shifted by a single residue, were designed. Although the spliced sequence in the two mutants differed by only one residue at the site of the deletion, only one of them (YEIKG) promoted domain swapping. The mutant containing the spliced sequence YENKG was entirely monomeric. This new understanding that the domain swapping propensity after loop deletion may depend critically on the chemical composition of the shortened loop will facilitate the rational design of domain swapping. © 2017 The Protein Society.

The Yeast Deletion Collection: A Decade of Functional Genomics

Science.gov (United States)

Giaever, Guri; Nislow, Corey

2014-01-01

The yeast deletion collections comprise >21,000 mutant strains that carry precise start-to-stop deletions of ∼6000 open reading frames. This collection includes heterozygous and homozygous diploids, and haploids of both MATa and MATα mating types. The yeast deletion collection, or yeast knockout (YKO) set, represents the first and only complete, systematically constructed deletion collection available for any organism. Conceived during the Saccharomyces cerevisiae sequencing project, work on the project began in 1998 and was completed in 2002. The YKO strains have been used in numerous laboratories in >1000 genome-wide screens. This landmark genome project has inspired development of numerous genome-wide technologies in organisms from yeast to man. Notable spinoff technologies include synthetic genetic array and HIPHOP chemogenomics. In this retrospective, we briefly describe the yeast deletion project and some of its most noteworthy biological contributions and the impact that these collections have had on the yeast research community and on genomics in general. PMID:24939991

Panchromatic cooperative hyperspectral adaptive wide band deletion repair method

Science.gov (United States)

Jiang, Bitao; Shi, Chunyu

2018-02-01

In the hyperspectral data, the phenomenon of stripe deletion often occurs, which seriously affects the efficiency and accuracy of data analysis and application. Narrow band deletion can be directly repaired by interpolation, and this method is not ideal for wide band deletion repair. In this paper, an adaptive spectral wide band missing restoration method based on panchromatic information is proposed, and the effectiveness of the algorithm is verified by experiments.

HOXA genes cluster: clinical implications of the smallest deletion

OpenAIRE

Pezzani, Lidia; Milani, Donatella; Manzoni, Francesca; Baccarin, Marco; Silipigni, Rosamaria; Guerneri, Silvana; Esposito, Susanna

2015-01-01

Background HOXA genes cluster plays a fundamental role in embryologic development. Deletion of the entire cluster is known to cause a clinically recognizable syndrome with mild developmental delay, characteristic facies, small feet with unusually short and big halluces, abnormal thumbs, and urogenital malformations. The clinical manifestations may vary with different ranges of deletions of HOXA cluster and flanking regions. Case presentation We report a girl with the smallest deletion reporte...

Molecular cytogenetic characterization of the first reported case of an inv dup (4p)(p15.1-pter) with a concomitant 4q35.1-qter deletion and normal parents.

Science.gov (United States)

Tassano, E; Alpigiani, M G; Salvati, P; Gimelli, S; Lorini, R; Gimelli, G

2012-12-15

Inverted duplications associated with terminal deletions are complex anomalies described in an increasing of chromosome ends. We report on the cytogenetic characterization of the first de novo inv dup del(4) with partial 4p duplication and 4q deletion in a girl with clinical signs consistent with "recombinant 4 syndrome". This abnormality was suspected by banding, but high-resolution molecular cytogenetic investigations allowed us to define the breakpoints of the rearrangement. The terminal duplicated region extending from 4p15.1 to the telomere was estimated to be 29.27 Mb, while the size of the terminal deletion was 3.114 Mb in the 4q35.1 region. Until now, 10 patients with duplicated 4p14-p15 and deleted 4q35 chromosome 4 have been described. In all cases the abnormal chromosome 4 was derived from a pericentric inversion inherited from one of the parents. In conclusion, we have identified the first case of inv dup del(4) with normal parents suggesting that, often, terminal duplications or terminal deletions mask complex rearrangements. Copyright © 2012 Elsevier B.V. All rights reserved.

Role of DNA deletion length in mutation and cell survival

International Nuclear Information System (INIS)

Braby, L.A.; Morgan, T.L.

1992-01-01

A model is presented which is based on the assumption that malignant transformation, mutation, chromosome aberration, and reproductive death of cells are all manifestations of radiation induced deletions in the DNA of the cell, and that the size of the deletion in relation to the spacing of essential genes determines the consequences of that deletion. It is assumed that two independent types of potentially lethal lesions can result in DNA deletions, and that the relative numbers of these types of damage is dependent on radiation quality. The repair of the damage reduces the length of a deletion, but does not always eliminate it. The predictions of this model are in good agreement with a wide variety of experimental evidence. (author)

Microlensing Binaries with Candidate Brown Dwarf Companions

DEFF Research Database (Denmark)

Shin, I.-G; Han, C.; Gould, A.

2012-01-01

masses of the brown dwarf companions are 0.02 ± 0.01 M⊙ and 0.019 ± 0.002 M⊙ for MOA-2011-BLG-104/OGLE-2011-BLG-0172 and MOA-2011-BLG-149, respectively, and both companions are orbiting low-mass M dwarf host stars. More microlensing brown dwarfs are expected to be detected as the number of lensing events...

32 CFR 310.34 - Amendment and deletion of system notices.

Science.gov (United States)

2010-07-01

... 32 National Defense 2 2010-07-01 2010-07-01 false Amendment and deletion of system notices. 310.34... (CONTINUED) PRIVACY PROGRAM DOD PRIVACY PROGRAM Publication Requirements § 310.34 Amendment and deletion of... system. (see § 310.32(q)). (c) Deletion of system notices. (1) Whenever a system is discontinued...

Development of brown coal mining in the Federal Republic of Germany

Energy Technology Data Exchange (ETDEWEB)

Tilmann, W

1985-01-01

The significance of brown coal mining in the Federal Republic of Germany for the development of opencast technology and the power industry is discussed with emphasis on mining in the Rhineland Area. In 1984, 126.7 mt of brown coal were produced in the Federal Republic of Germany. In the development of high-performance equipment it is essential that the efficiency of the bucket-wheel excavator is increased. Trains and conveyors are mainly used for mine transport in the Federal Republic of Germany. A high moral commitment is linked to land claims, recultivation and environmental issues on the part of brown coal mining. In 1984 the percentage share of brown coal supplied to the public power stations was 83.6%, corresponding to 105.9 mt. The installed capacity of all brown coal power stations amounted to 12,764 MW at the end of 1984, providing around one quarter of overall public power output. Charge coal for coal refining has become more important and the production of brown coal dust and brown coal coke has also increased. The share of brown coal in domestic primary energy production is currently around 24% of 151 mt hard-coal units or around 10% of 376.5 mt hard-coal units in terms of energy consumption. 12 references.

The emergence of cold-induced brown adipocytes in mouse white fat depots is determined predominantly by white to brown adipocyte transdifferentiation

DEFF Research Database (Denmark)

Barbatelli, G.; Murano, I.; Madsen, Lise

2010-01-01

The origin of brown adipocytes arising in white adipose tissue (WAT) after cold acclimatization is unclear. Here, we demonstrate that several UCP1-immunoreactive brown adipocytes occurring in WAT after cold acclimatization have a mixed morphology (paucilocular adipocytes). These cells also had a ...

Explaining millimeter-sized particles in brown dwarf disks

NARCIS (Netherlands)

Pinilla, P.; Birnstiel, T.; Benisty, M.; Ricci, L.; Natta, A.; Dullemond, C.P.; Dominik, C.; Testi, L.

2013-01-01

Context. Planets have been detected around a variety of stars, including low-mass objects, such as brown dwarfs. However, such extreme cases are challenging for planet formation models. Recent sub-millimeter observations of disks around brown dwarf measured low spectral indices of the continuum

Mosaic deletion of 20pter due to rescue by somatic recombination.

Science.gov (United States)

Martin, Megan M; Vanzo, Rena J; Sdano, Mallory R; Baxter, Adrianne L; South, Sarah T

2016-01-01

We report on a unique case of a mosaic 20pter-p13 deletion due to a somatic repair event identified by allele differentiating single nucleotide polymorphism (SNP) probes on chromosomal microarray. Small terminal deletions of 20p have been reported in a few individuals and appear to result in a variable phenotype. This patient was a 24-month-old female who presented with failure to thrive and speech delay. Chromosomal microarray analysis (CMA) performed on peripheral blood showed a 1.6 Mb deletion involving the terminus of 20p (20pter-20p13). This deletion appeared mosaic by CMA and this suspicion was confirmed by fluorescence in situ hybridization (FISH) analysis. Additionally, the deletion interval at 20p was directly adjacent to 15 Mb of mosaic copy-neutral loss of heterozygosity (LOH). The pattern of SNP probes was highly suggestive of a somatic repair event that resulted in rescue of the deleted region using the non-deleted homologue as a template. Structural mosaicism is rare and most often believed to be due to a postzygotic mechanism. This case demonstrates the additional utility of allele patterns to help distinguish mechanisms and in this case identified the possibility of either a post-zygotic repair of a germline deletion or a post-zygotic deletion with somatic recombination repair in a single step. © 2015 Wiley Periodicals, Inc.

CASE REPORT PET/CT-positive brown tumour – a potentially ...

African Journals Online (AJOL)

Brown tumor of bone: a potential source of false-positive Thallium-201 localization. J Nucl Med 1989; 30: 1264-1267. 4. Nassar GM, Ayus JC. Images in clinical medicine. Brown tumor in end stage renal disease. N Engl J Med. 1999; 341: 1652. 5. Keyser JS, Postma GN. Brown tumor of the mandible. Am J Otolaryngol 1996; ...

After Brown U.'s Report on Slavery, Silence (So Far)

Science.gov (United States)

Bartlett, Thomas

2006-01-01

This article, discusses Brown University's slavery report, a 106-page narrative examination of the early connections between Brown University and slavery, that has been greeted--so far--with silence. The report, done at the behest of Ruth J. Simmons, Brown's president and herself a descendant of slaves, is an unsparing look at a shameful side of…

75 FR 49481 - Procurement List; Additions and Deletion

Science.gov (United States)

2010-08-13

... added to the Procurement List: Services Service Type/Locations: Laundry Service, Atlanta VA Medical...: Additions to and deletion from the Procurement List. SUMMARY: This action adds services to the Procurement... disabilities and deletes a service from the Procurement List previously furnished by such agency. DATES...

Phosphatase and tensin homologue deleted on chromosome 10 ...

African Journals Online (AJOL)

Phosphatase and tensin homologue deleted on chromosome 10 (PTEN) is a tumor suppressor gene deleted or mutated in many human cancers such as glioblastoma, spinal tumors, prostate, bladder, adrenals, thyroid, breast, endometrium, and colon cancers. They result from loss of heterozygosity (LOH) for the PTEN ...

The membrane may be an important factor in browning of fresh-cut pear.

Science.gov (United States)

Li, Zhenghong; Zhang, Yuxing; Ge, Huibo

2017-09-01

Surface browning is an important cause of deterioration of fresh-cut fruit during postharvest handling. In this paper, four pear cultivars with different extents of natural browning were selected to analyse the factors involved in browning. The main results are as follows: the lipoxygenase (LOX) activity of 'Mantianhong' and 'Yali' pears was higher accompanied by a stronger degree of browning, while the LOX activity in 'Xueqing' and 'Xinli 7' pears was lower, with less browning. A higher unsaturated fatty acid ratio of pear resulted in reduced browning. The cell membranes disappeared 30min after being cut in 'Mantianhong' pear, which browns easily; however, the cell membranes were still intact 30min after being cut in 'Xueqing' pear, which does not brown easily. Therefore, it can be assumed that the stability of the cell membrane plays an important role in inhibiting browning of fresh-cut pears. Copyright © 2017. Published by Elsevier Ltd.

Browning and graying: novel transcriptional regulators of brown and beige fat tissues and aging

Directory of Open Access Journals (Sweden)

Elisabetta eMueller

2016-03-01

Full Text Available Obesity represents a major risk factor for the development of a number of metabolic disorders, including cardiovascular disease and type 2 diabetes. Since the discovery that brown and beige fat cells exist in adult humans and contribute to energy expenditure, increasing interest has been devoted to the understanding of the molecular switches turning on calorie utilization. It has been reported that the ability of thermogenic tissues to burn energy declines during aging, possibly contributing to the development of metabolic dysfunction late in life. This review will focus on the recently identified transcriptional modulators of brown and beige cells and will discuss the potential impact of some of these thermogenic factors on age-associated metabolic disorders.

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.

Science.gov (United States)

Bondurand, Nadege; Dastot-Le Moal, Florence; Stanchina, Laure; Collot, Nathalie; Baral, Viviane; Marlin, Sandrine; Attie-Bitach, Tania; Giurgea, Irina; Skopinski, Laurent; Reardon, William; Toutain, Annick; Sarda, Pierre; Echaieb, Anis; Lackmy-Port-Lis, Marilyn; Touraine, Renaud; Amiel, Jeanne; Goossens, Michel; Pingault, Veronique

2007-12-01

Waardenburg syndrome (WS) is an auditory-pigmentary disorder that exhibits varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair and skin. Depending on additional symptoms, WS is classified into four subtypes, WS1-WS4. Absence of additional features characterizes WS2. The association of facial dysmorphic features defines WS1 and WS3, whereas the association with Hirschsprung disease (aganglionic megacolon) characterizes WS4, also called "Waardenburg-Hirschsprung disease." Mutations within the genes MITF and SNAI2 have been identified in WS2, whereas mutations of EDN3, EDNRB, and SOX10 have been observed in patients with WS4. However, not all cases are explained at the molecular level, which raises the possibility that other genes are involved or that some mutations within the known genes are not detected by commonly used genotyping methods. We used a combination of semiquantitative fluorescent multiplex polymerase chain reaction and fluorescent in situ hybridization to search for SOX10 heterozygous deletions. We describe the first characterization of SOX10 deletions in patients presenting with WS4. We also found SOX10 deletions in WS2 cases, making SOX10 a new gene of WS2. Interestingly, neurological phenotypes reminiscent of that observed in WS4 (PCWH syndrome [peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, WS, and Hirschsprung disease]) were observed in some WS2-affected patients with SOX10 deletions. This study further characterizes the molecular complexity and the close relationship that links the different subtypes of WS.

Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes.

Science.gov (United States)

Sadikovic, Bekim; Wang, Jing; El-Hattab, Ayman W; Landsverk, Megan; Douglas, Ganka; Brundage, Ellen K; Craigen, William J; Schmitt, Eric S; Wong, Lee-Jun C

2010-12-20

Mitochondrial DNA (mtDNA) deletions are a common cause of mitochondrial disorders. Large mtDNA deletions can lead to a broad spectrum of clinical features with different age of onset, ranging from mild mitochondrial myopathies (MM), progressive external ophthalmoplegia (PEO), and Kearns-Sayre syndrome (KSS), to severe Pearson syndrome. The aim of this study is to investigate the molecular signatures surrounding the deletion breakpoints and their association with the clinical phenotype and age at onset. MtDNA deletions in 67 patients were characterized using array comparative genomic hybridization (aCGH) followed by PCR-sequencing of the deletion junctions. Sequence homology including both perfect and imperfect short repeats flanking the deletion regions were analyzed and correlated with clinical features and patients' age group. In all age groups, there was a significant increase in sequence homology flanking the deletion compared to mtDNA background. The youngest patient group (deletion distribution in size and locations, with a significantly lower sequence homology flanking the deletion, and the highest percentage of deletion mutant heteroplasmy. The older age groups showed rather discrete pattern of deletions with 44% of all patients over 6 years old carrying the most common 5 kb mtDNA deletion, which was found mostly in muscle specimens (22/41). Only 15% (3/20) of the young patients (deletion, which is usually present in blood rather than muscle. This group of patients predominantly (16 out of 17) exhibit multisystem disorder and/or Pearson syndrome, while older patients had predominantly neuromuscular manifestations including KSS, PEO, and MM. In conclusion, sequence homology at the deletion flanking regions is a consistent feature of mtDNA deletions. Decreased levels of sequence homology and increased levels of deletion mutant heteroplasmy appear to correlate with earlier onset and more severe disease with multisystem involvement.

Phospholipids of New Zealand Edible Brown Algae.

Science.gov (United States)

Vyssotski, Mikhail; Lagutin, Kirill; MacKenzie, Andrew; Mitchell, Kevin; Scott, Dawn

2017-07-01

Edible brown algae have attracted interest as a source of beneficial allenic carotenoid fucoxanthin, and glyco- and phospholipids enriched in polyunsaturated fatty acids. Unlike green algae, brown algae contain no or little phosphatidylserine, possessing an unusual aminophospholipid, phosphatidyl-O-[N-(2-hydroxyethyl) glycine], PHEG, instead. When our routinely used technique of 31 P-NMR analysis of phospholipids was applied to the samples of edible New Zealand brown algae, a number of signals corresponding to unidentified phosphorus-containing compounds were observed in total lipids. NI (negative ion) ESI QToF MS spectra confirmed the presence of more familiar phospholipids, and also suggested the presence of PHEG or its isomers. The structure of PHEG was confirmed by comparison with a synthetic standard. An unusual MS fragmentation pattern that was also observed prompted us to synthesise a number of possible candidates, and was found to follow that of phosphatidylhydroxyethyl methylcarbamate, likely an extraction artefact. An unexpected outcome was the finding of ceramidephosphoinositol that has not been reported previously as occurring in brown algae. An uncommon arsenic-containing phospholipid has also been observed and quantified, and its TLC behaviour studied, along with that of the newly synthesised lipids.

PRDM16 enhances nuclear receptor-dependent transcription of the brown fat-specific Ucp1 gene through interactions with Mediator subunit MED1.

Science.gov (United States)

Iida, Satoshi; Chen, Wei; Nakadai, Tomoyoshi; Ohkuma, Yoshiaki; Roeder, Robert G

2015-02-01

PR domain-containing 16 (PRDM16) induces expression of brown fat-specific genes in brown and beige adipocytes, although the underlying transcription-related mechanisms remain largely unknown. Here, in vitro studies show that PRDM16, through its zinc finger domains, directly interacts with the MED1 subunit of the Mediator complex, is recruited to the enhancer of the brown fat-specific uncoupling protein 1 (Ucp1) gene through this interaction, and enhances thyroid hormone receptor (TR)-driven transcription in a biochemically defined system in a Mediator-dependent manner, thus providing a direct link to the general transcription machinery. Complementary cell-based studies show that upon forskolin treatment, PRDM16 induces Ucp1 expression in undifferentiated murine embryonic fibroblasts, that this induction depends on MED1 and TR, and, consistent with a direct effect, that PRDM16 is recruited to the Ucp1 enhancer. Related studies have defined MED1 and PRDM16 interaction domains important for Ucp1 versus Ppargc1a induction by PRDM16. These results reveal novel mechanisms for PRDM16 function through the Mediator complex. © 2015 Iida et al.; Published by Cold Spring Harbor Laboratory Press.

NFIA co-localizes with PPARγ and transcriptionally controls the brown fat gene program

DEFF Research Database (Denmark)

Hiraike, Yuta; Waki, Hironori; Yu, Jing

2017-01-01

. NFIA and the master transcriptional regulator of adipogenesis, PPARγ, co-localize at the brown-fat-specific enhancers. Moreover, the binding of NFIA precedes and facilitates the binding of PPARγ, leading to increased chromatin accessibility and active transcription. Introduction of NFIA into myoblasts...... results in brown adipocyte differentiation. Conversely, the brown fat of NFIA-knockout mice displays impaired expression of the brown-fat-specific genes and reciprocal elevation of muscle genes. Finally, expression of NFIA and the brown-fat-specific genes is positively correlated in human brown fat...

Inhibition of Enzymatic Browning of Chlorogenic Acid by Sulfur-Containing Compounds

NARCIS (Netherlands)

Kuijpers, T.F.M.; Narvaez Cuenca, C.E.; Vincken, J.P.; Verloop, J.W.; Berkel, van W.J.H.; Gruppen, H.

2012-01-01

The antibrowning activity of sodium hydrogen sulfite (NaHSO3) was compared to that of other sulfur-containing compounds. Inhibition of enzymatic browning was investigated using a model browning system consisting of mushroom tyrosinase and chlorogenic acid (5-CQA). Development of brown color

Maxillary brown tumor as initial presentation of parathyroid adenoma: A case report

Directory of Open Access Journals (Sweden)

Hon-Ke Sia

2012-07-01

Full Text Available Brown tumor is a rare late-stage skeletal change caused by long-term stimulation of excess parathyroid hormone. It is not neoplastic, but a reparative cellular process. Common sites of brown tumor are the ribs, clavicle, long bones and pelvic girdle. Solitary maxillary brown tumor as initial presentation of primary hyperparathyroidism is rare; it is often accompanied by brown tumors of the other facial bones. Here, we present the first case of solitary maxillary brown tumor in a 29-year-old ethnic Chinese woman with initial presentation of a large tumor filling the left maxillary sinus. Underlying long-standing primary hyperparathyroidism caused by a large parathyroid adenoma was finally diagnosed. Brown tumor tends to be misdiagnosed as malignancy, and delayed diagnosis of the underlying hyperparathyroidism is common. Our case validates the suggestion that young women have a higher probability of brown tumor. Biopsy of the suspicious bone tumor and blood tests for calcium and parathyroid hormone level are crucial and essential to reach the correct diagnosis. Most brown tumors show spontaneous regression after parathyroidectomy. However, direct excision of the brown tumor may be indicated to avoid the risk of facial deformity and orbital compression at a special anatomical site, as in our case.

76 FR 78248 - Procurement List; Addition and Deletions

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2011-12-16

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2013-04-12

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42 CFR 401.118 - Deletion of identifying details.

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2010-10-01

... 42 Public Health 2 2010-10-01 2010-10-01 false Deletion of identifying details. 401.118 Section 401.118 Public Health CENTERS FOR MEDICARE & MEDICAID SERVICES, DEPARTMENT OF HEALTH AND HUMAN... Deletion of identifying details. When CMS publishes or otherwise makes available an opinion or order...

19 CFR 176.22 - Deletion of protest or entry number.

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2010-04-01

... 19 Customs Duties 2 2010-04-01 2010-04-01 false Deletion of protest or entry number. 176.22... Facts § 176.22 Deletion of protest or entry number. If any protest number or entry number is to be... authorized official making and approving the deletion. [T.D. 70-181, 35 FR 13433, Aug. 22, 1970] ...

Obituary: Beth Brown (1969-2008)

Science.gov (United States)

Bregman, Joel

2011-12-01

The astronomical community lost one of its most buoyant and caring individuals when Beth Brown died, unexpectedly, at the age of 39 from a pulmonary embolism. Beth Brown was born in Roanoke, Virginia where she developed a deep interest in astronomy, science, and science fiction (Star Trek). After graduating as the valedictorian of William Fleming High School's Class of 1987, she attended Howard University, where she graduated summa cum laude in 1991 with a bachelor's degree in astrophysics. Following a year in the graduate physics program at Howard, she entered the graduate program in the Department of Astronomy at the University of Michigan, the first African-American woman in the program. She received her PhD in 1998, working with X-ray observations of elliptical galaxies from the Röntgen Satellite (ROSAT; Joel Bregman was her advisor). She compiled and analyzed the first large complete sample of such galaxies with ROSAT and her papers in this area made an impact in the field. Following her PhD, Beth Brown held a National Academy of Science & National Research Council Postdoctoral Research Fellowship at NASA's Goddard Space Flight Center. Subsequently, she became a civil servant at the National Space Science Data Center at GSFC, where she was involved in data archival activities as well as education and outreach, a continuing passion in her life. In 2006, Brown became an Astrophysics Fellow at GSFC, during which time she worked as a visiting Assistant Professor at Howard University, where she taught and worked with students and faculty to improve the teaching observatory. At the time of her death, she was eagerly looking forward to a new position at GSFC as the Assistant Director for Science Communications and Higher Education. Beth Brown was a joyous individual who loved to work with people, especially in educating them about our remarkable field. Her warmth and openness was a great aid in making accessible explanations of otherwise daunting astrophysical

Optical visualisation of thermogenesis in stimulated single-cell brown adipocytes.

Science.gov (United States)

Kriszt, Rókus; Arai, Satoshi; Itoh, Hideki; Lee, Michelle H; Goralczyk, Anna G; Ang, Xiu Min; Cypess, Aaron M; White, Andrew P; Shamsi, Farnaz; Xue, Ruidan; Lee, Jung Yeol; Lee, Sung-Chan; Hou, Yanyan; Kitaguchi, Tetsuya; Sudhaharan, Thankiah; Ishiwata, Shin'ichi; Lane, E Birgitte; Chang, Young-Tae; Tseng, Yu-Hua; Suzuki, Madoka; Raghunath, Michael

2017-05-03

The identification of brown adipose deposits in adults has led to significant interest in targeting this metabolically active tissue for treatment of obesity and diabetes. Improved methods for the direct measurement of heat production as the signature function of brown adipocytes (BAs), particularly at the single cell level, would be of substantial benefit to these ongoing efforts. Here, we report the first application of a small molecule-type thermosensitive fluorescent dye, ERthermAC, to monitor thermogenesis in BAs derived from murine brown fat precursors and in human brown fat cells differentiated from human neck brown preadipocytes. ERthermAC accumulated in the endoplasmic reticulum of BAs and displayed a marked change in fluorescence intensity in response to adrenergic stimulation of cells, which corresponded to temperature change. ERthermAC fluorescence intensity profiles were congruent with mitochondrial depolarisation events visualised by the JC-1 probe. Moreover, the averaged fluorescence intensity changes across a population of cells correlated well with dynamic changes such as thermal power, oxygen consumption, and extracellular acidification rates. These findings suggest ERthermAC as a promising new tool for studying thermogenic function in brown adipocytes of both murine and human origins.

Molecular Selectivity of Brown Carbon Chromophores

Energy Technology Data Exchange (ETDEWEB)

Laskin, Julia; Laskin, Alexander; Nizkorodov, Sergey; Roach, Patrick J.; Eckert, Peter A.; Gilles, Mary K.; Wang, Bingbing; Lee, Hyun Ji; Hu, Qichi

2014-10-21

Complementary methods of high-resolution mass spectrometry and micro-spectroscopy were utilized for molecular analysis of secondary organic aerosol (SOA) generated from ozonolysis of two structural monoterpene isomers: D-limonene (LSOA) and a-pinene (PSOA). Laboratory simulated aging of LSOA and PSOA, through conversion of carbonyls into imines mediated by NH3 vapors in humid air, resulted in selective browning of the LSOA sample, while the PSOA sample remained white. Comparative analysis of the reaction products in the aged LSOA and PSOA samples provided insights into chemistry relevant to formation of brown carbon chromophores. A significant fraction of carbonyl-imine conversion products with identical molecular formulas were detected in both samples. This reflects the high level of similarity in the molecular composition of these two closely related SOA materials. Several highly conjugated products were detected exclusively in the brown LSOA sample and were identified as potential chromophores responsible for the observed color change. The majority of the unique products in the aged LSOA sample with the highest number of double bonds contain two nitrogen atoms. We conclude that chromophores characteristic of the carbonyl- imine chemistry in LSOA are highly conjugated oligomers of secondary imines (Schiff bases) present at relatively low concentrations. Formation of this type of conjugated compounds in PSOA is hindered by the structural rigidity of the a-pinene oxidation products. Our results suggest that the overall light-absorbing properties of SOA may be determined by trace amounts of strong brown carbon chromophores.

NPL deletion policy for RCRA-regulated TSD facilities finalized

International Nuclear Information System (INIS)

Anon.

1995-01-01

Under a new policy published by EPA on March 20, 1995, certain sites may be deleted from the National Priorities List (NPL) and deferred to RCRA corrective action. To be deleted from the NPL, a site must (1) be regulated under RCRA as a treatment, storage, or disposal (TSD) facility and (2) meet the four criteria specified by EPA. The new NPL deletion policy, which does not pertain to federal TSD facilities, became effective on April 19, 1995. 1 tab

The rates and patterns of deletions in the human factor IX gene

Energy Technology Data Exchange (ETDEWEB)

Ketterling, R.P.; Vielhaber, E.L.; Lind, T.J.; Thorland, E.C.; Sommer S.S. (Mayo Clinic/Foundation, Rochester, MN (United States))

1994-02-01

Deletions are commonly observed in genes with either segments of highly homologous sequences or excessive gene length. However, in the factor IX gene and in most genes, deletions (of [ge]21 bp) are uncommon. The authors have analyzed DNA from 290 families with hemophilia B (203 independent mutations) and have found 12 deletions >20 bp. Eleven of these are >2 kb (range >3-163 kb), and one is 1.1 kb. The junctions of the four deletions that are completely contained within the factor IX gene have been determined. A novel mutation occurred in patient HB128: the data suggest that a 26.8-kb deletion occurred between two segments of alternating purines and pyrimidines and that a 2.3-kb sense strand segment derived from the deleted region was inserted. For a sample of 203 independent mutations, the authors estimate the [open quotes]baseline[close quotes] rates of deletional mutation per base pair per generation as a function of size. The rate for large (>2 kb)I deletions is exceedingly low. For every mutational event in which a given base is at the junction of a large deletion, there are an estimated 58 microdeletions (<20 bp) and 985 single-base substitutions at that base. Analysis of the nine reported deletion junctions in the factor IX gene literature reveals that (i) five are associated with inversion, orphan sequences, or sense strand insertions; (ii) four are simple deletions that display an excess of short direct repeats at their junctions; (iii) there is no dramatic clustering of junctions within the gene; and (iv) with the exception of alternating purines and pyrimidines, deletion junctions are not preferentially associated with repetitive DNA. 58 refs., 5 figs., 5 tabs.

The DrosDel Deletion Collection: A Drosophila Genomewide Chromosomal Deficiency Resource

OpenAIRE

Ryder, Edward; Ashburner, Michael; Bautista-Llacer, Rosa; Drummond, Jenny; Webster, Jane; Johnson, Glynnis; Morley, Terri; Chan, Yuk Sang; Blows, Fiona; Coulson, Darin; Reuter, Gunter; Baisch, Heiko; Apelt, Christian; Kauk, Andreas; Rudolph, Thomas

2007-01-01

We describe a second-generation deficiency kit for Drosophila melanogaster composed of molecularly mapped deletions on an isogenic background, covering ∼77% of the Release 5.1 genome. Using a previously reported collection of FRT-bearing P-element insertions, we have generated 655 new deletions and verified a set of 209 deletion-bearing fly stocks. In addition to deletions, we demonstrate how the P elements may also be used to generate a set of custom inversions and duplications, particularly...

Briquetting of Coke-Brown Coal Mixture

Directory of Open Access Journals (Sweden)

Ïurove Juraj

1998-09-01

Full Text Available The paper presents the results of the research of briquetting a coke-brown coal composite The operation consists of the feeding crushed coal and coke to moulds and pressing into briquettes which have been made in the Laboratories at the Mining Faculty of Technical University of Košice (Slovakia. In this research, all demands will be analyzed including the different aspects of the mechanical quality of briquettes, the proportion of fine pulverulent coal and coke in bricks, the requirements for briquetting the coke-brown coal materials.

Top-of-atmosphere radiative forcing affected by brown carbon in the upper troposphere

Science.gov (United States)

Zhang, Yuzhong; Forrister, Haviland; Liu, Jiumeng; Dibb, Jack; Anderson, Bruce; Schwarz, Joshua P.; Perring, Anne E.; Jimenez, Jose L.; Campuzano-Jost, Pedro; Wang, Yuhang; Nenes, Athanasios; Weber, Rodney J.

2017-07-01

Carbonaceous aerosols affect the global radiative balance by absorbing and scattering radiation, which leads to warming or cooling of the atmosphere, respectively. Black carbon is the main light-absorbing component. A portion of the organic aerosol known as brown carbon also absorbs light. The climate sensitivity to absorbing aerosols rapidly increases with altitude, but brown carbon measurements are limited in the upper troposphere. Here we present aircraft observations of vertical aerosol distributions over the continental United States in May and June 2012 to show that light-absorbing brown carbon is prevalent in the troposphere, and absorbs more short-wavelength radiation than black carbon at altitudes between 5 and 12 km. We find that brown carbon is transported to these altitudes by deep convection, and that in-cloud heterogeneous processing may produce brown carbon. Radiative transfer calculations suggest that brown carbon accounts for about 24% of combined black and brown carbon warming effect at the tropopause. Roughly two-thirds of the estimated brown carbon forcing occurs above 5 km, although most brown carbon is found below 5 km. The highest radiative absorption occurred during an event that ingested a wildfire plume. We conclude that high-altitude brown carbon from biomass burning is an unappreciated component of climate forcing.

Sorting genomes by reciprocal translocations, insertions, and deletions.

Science.gov (United States)

Qi, Xingqin; Li, Guojun; Li, Shuguang; Xu, Ying

2010-01-01

The problem of sorting by reciprocal translocations (abbreviated as SBT) arises from the field of comparative genomics, which is to find a shortest sequence of reciprocal translocations that transforms one genome Pi into another genome Gamma, with the restriction that Pi and Gamma contain the same genes. SBT has been proved to be polynomial-time solvable, and several polynomial algorithms have been developed. In this paper, we show how to extend Bergeron's SBT algorithm to include insertions and deletions, allowing to compare genomes containing different genes. In particular, if the gene set of Pi is a subset (or superset, respectively) of the gene set of Gamma, we present an approximation algorithm for transforming Pi into Gamma by reciprocal translocations and deletions (insertions, respectively), providing a sorting sequence with length at most OPT + 2, where OPT is the minimum number of translocations and deletions (insertions, respectively) needed to transform Pi into Gamma; if Pi and Gamma have different genes but not containing each other, we give a heuristic to transform Pi into Gamma by a shortest sequence of reciprocal translocations, insertions, and deletions, with bounds for the length of the sorting sequence it outputs. At a conceptual level, there is some similarity between our algorithm and the algorithm developed by El Mabrouk which is used to sort two chromosomes with different gene contents by reversals, insertions, and deletions.

Effects of White Rice, Brown Rice and Germinated Brown Rice on Antioxidant Status of Type 2 Diabetic Rats

OpenAIRE

Imam, Mustapha Umar; Musa, Siti Nor Asma; Azmi, Nur Hanisah; Ismail, Maznah

2012-01-01

Oxidative stress is implicated in the pathogenesis of diabetic complications, and can be increased by diet like white rice (WR). Though brown rice (BR) and germinated brown rice (GBR) have high antioxidant potentials as a result of their bioactive compounds, reports of their effects on oxidative stress-related conditions such as type 2 diabetes are lacking. We hypothesized therefore that if BR and GBR were to improve antioxidant status, they would be better for rice consuming populations inst...

Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion Syndrome

Directory of Open Access Journals (Sweden)

Kristen Dilzell

2015-01-01

Full Text Available This case report concerns a 16-year-old girl with a 9.92 Mb, heterozygous interstitial chromosome deletion at 7q33-q35, identified using array comparative genomic hybridization. The patient has dysmorphic facial features, intellectual disability, recurrent infections, self-injurious behavior, obesity, and recent onset of hemihypertrophy. This patient has overlapping features with previously reported individuals who have similar deletions spanning the 7q32-q36 region. It has been difficult to describe an interstitial 7q deletion syndrome due to variations in the sizes and regions in the few patients reported in the literature. This case contributes to the further characterization of an interstitial distal 7q deletion syndrome.

MEASURING TINY MASS ACCRETION RATES ONTO YOUNG BROWN DWARFS

International Nuclear Information System (INIS)

Herczeg, Gregory J.; Cruz, Kelle L.; Hillenbrand, Lynne A.

2009-01-01

We present low-resolution Keck I/LRIS spectra spanning from 3200 to 9000 A of nine young brown dwarfs and three low-mass stars in the TW Hya Association and in Upper Sco. The optical spectral types of the brown dwarfs range from M5.5 to M8.75, though two have near-IR spectral types of early L dwarfs. We report new accretion rates derived from excess Balmer continuum emission for the low-mass stars TW Hya and Hen 3-600A and the brown dwarfs 2MASS J12073347-3932540, UScoCTIO 128, SSSPM J1102-3431, USco J160606.29-233513.3, DENIS-P J160603.9-205644, and Oph J162225-240515B, and upper limits on accretion for the low-mass star Hen 3-600B and the brown dwarfs UScoCTIO 112, Oph J162225-240515A, and USco J160723.82-221102.0. For the six brown dwarfs in our sample that are faintest at short wavelengths, the accretion luminosity or upper limit is measurable only when the image is binned over large wavelength intervals. This method extends our sensitivity to accretion rate down to ∼10 -13 M sun yr -1 for brown dwarfs. Since the ability to measure an accretion rate from excess Balmer continuum emission depends on the contrast between excess continuum emission and the underlying photosphere, for objects with earlier spectral types the upper limit on accretion rate is much higher. Absolute uncertainties in our accretion rate measurements of ∼3-5 include uncertainty in accretion models, brown dwarf masses, and distance. The accretion rate of 2 x 10 -12 M sun yr -1 onto 2MASS J12073347-3932540 is within 15% of two previous measurements, despite large changes in the Hα flux.

Direct radiative effect due to brownness in organic carbon aerosols generated from biomass combustion

International Nuclear Information System (INIS)

Rathod, T.D.; Sahu, S.K.; Tiwari, M.; Pandit, G.G.

2016-01-01

We report the enhancement in the direct radiative effect due the presence of Brown carbon (BrC) as a part of organic carbon aerosols. The optical properties of organic carbon aerosols generated from pyrolytic combustion of mango tree wood (Magnifera Indica) and dung cake at different temperatures were considered. Mie codes were used to calculate absorption and scattering coefficients coupled with experimentally derived imaginary complex refractive index. The direct radiative effect (DRE) for sampled organic carbon aerosols was estimated using a wavelength dependent radiative transfer equation. The BrC DRE was estimated taking virtually non absorbing organic aerosols as reference. The BrC DRE from wood and dung cake was compared at different combustion temperatures and conditions. The BrC contributed positively to the direct top of the atmosphere radiative effect. Dung cake generated BrC aerosols were found to be strongly light absorbing as compared to BrC from wood combustion. It was noted that radiative effects of BrC from wood depended on its generation temperature and conditions. For BrC aerosols from dung cake such strong dependence was not observed. The average BrC aerosol DRE values were 1.53±0.76 W g"−"1 and 17.84±6.45 W g"−"1 for wood and dung cake respectively. The DRE contribution of BrC aerosols came mainly (67–90%) from visible light absorption though they exhibited strong absorption in shorter wavelengths of the UV–visible spectrum. - Highlights: • Biomass fuels (wood and dung cake) were studied for brown carbon direct radiative effects. • Model calculations predicted positive contribution of Brown carbon aerosols to organic carbon direct radiative effect. • Average direct radiative values for brown carbon from dung cake were higher compare to wood. • The visible light absorption played major role in brown carbon contribution (67–90 %) to total direct radiative effect.

Sexual dimorphism in white campion: complex control of carpel number is revealed by Y chromosome deletions

International Nuclear Information System (INIS)

Lardon, A.; Georgiev, S.; Aghmir, A.; Le Merrer, G.; Negrutiu, I.

1999-01-01

Sexual dimorphism in the dioecious plant white campion (Silene latifolia = Melandrium album) is under the control of two main regions on the Y chromosome. One such region, encoding the gynoecium-suppressing function (GSF), is responsible for the arrest of carpel initiation in male flowers. To generate chromosomal deletions, we used pollen irradiation in male plants to produce hermaphroditic mutants (bsx mutants) in which carpel development was restored. The mutants resulted from alterations in at least two GSF chromosomal regions, one autosomal and one located on the distal half of the (p)-arm of the Y chromosome. The two mutations affected carpel development independently, each mutation showing incomplete penetrance and variegation, albeit at significantly different levels. During successive meiotic generations, a progressive increase in penetrance and a reduction in variegation levels were observed and quantified at the level of the Y-linked GSF (GSF-Y). Possible mechanisms are proposed to explain the behavior of the bsx mutations: epigenetic regulation or/and second-site mutation of modifier genes. In addition, studies on the inheritance of the hermaphroditic trait showed that, unlike wild-type Y chromosomes, deleted Y chromosomes can be transmitted through both the male and the female lines. Altogether, these findings bring experimental support, on the one hand, to the existence on the Y chromosome of genic meiotic drive function(s) and, on the other hand, to models that consider that dioecy evolved through multiple mutation events. As such, the GSF is actually a system containing more than one locus and whose primary component is located on the Y chromosome

A Panchromatic View of Brown Dwarf Aurorae

Energy Technology Data Exchange (ETDEWEB)

Pineda, J. Sebastian [University of Colorado Boulder, Laboratory for Atmospheric and Space Physics, 3665 Discovery Drive, Boulder CO, 80303 (United States); Hallinan, Gregg; Kao, Melodie M. [California Institute of Technology, Department of Astronomy, 1200 E. California Avenue, Pasadena CA, 91125 (United States)

2017-09-01

Stellar coronal activity has been shown to persist into the low-mass star regime, down to late M-dwarf spectral types. However, there is now an accumulation of evidence suggesting that at the end of the main sequence, there is a transition in the nature of the magnetic activity from chromospheric and coronal to planet-like and auroral, from local impulsive heating via flares and MHD wave dissipation to energy dissipation from strong large-scale magnetospheric current systems. We examine this transition and the prevalence of auroral activity in brown dwarfs through a compilation of multiwavelength surveys of magnetic activity, including radio, X-ray, and optical. We compile the results of those surveys and place their conclusions in the context of auroral emission as a consequence of large-scale magnetospheric current systems that accelerate energetic electron beams and drive the particles to impact the cool atmospheric gas. We explore the different manifestations of auroral phenomena, like H α , in brown dwarf atmospheres and define their distinguishing characteristics. We conclude that large-amplitude photometric variability in the near-infrared is most likely a consequence of clouds in brown dwarf atmospheres, but that auroral activity may be responsible for long-lived stable surface features. We report a connection between auroral H α emission and quiescent radio emission in electron cyclotron maser instability pulsing brown dwarfs, suggesting a potential underlying physical connection between quiescent and auroral emissions. We also discuss the electrodynamic engines powering brown dwarf aurorae and the possible role of satellites around these systems both to power the aurorae and seed the magnetosphere with plasma.

DNA-based detection of chromosome deletion and amplification: diagnostic and mechanistic significance

International Nuclear Information System (INIS)

Latt, S.A.; Lalande, M.; Donlon, T.

1986-01-01

This paper describes a few of the many possible examples in which application of a molecular cytogenetic approach can ultimately lead to a new, important understanding about the statics and dynamics of human chromosome structure. In the case of retinoblastoma, cytological observations of deletions and linkage analysis have positioned the retinoblastoma locus to bank 13q14. This locus is grossly deleted in some spontaneous tumors. It is still necessary to locate more precisely and characterize the nature of the retinoblastoma locus, as well as the basis for the heterogeneity in deletions removing one copy of this locus. One is left with the possibility that those deletions that may be observed cytologically reflect but the tip of the iceberg of deletions; detection of others may require molecular probes. A related question is the nature of the DNA sequences at the deletion boundaries and the role they play in promoting these deletions

Delayed chromosomal instability caused by large deletion

International Nuclear Information System (INIS)

Ojima, M.; Suzuki, K.; Kodama, S.; Watanabe, M.

2003-01-01

Full text: There is accumulating evidence that genomic instability, manifested by the expression of delayed phenotypes, is induced by X-irradiation but not by ultraviolet (UV) light. It is well known that ionizing radiation, such as X-rays, induces DNA double strand breaks, but UV-light mainly causes base damage like pyrimidine dimers and (6-4) photoproducts. Although the mechanism of radiation-induced genomic instability has not been thoroughly explained, it is suggested that DNA double strand breaks contribute the induction of genomic instability. We examined here whether X-ray induced gene deletion at the hprt locus induces delayed instability in chromosome X. SV40-immortalized normal human fibroblasts, GM638, were irradiated with X-rays (3, 6 Gy), and the hprt mutants were isolated in the presence of 6-thioguanine (6-TG). A 2-fold and a 60-fold increase in mutation frequency were found by 3 Gy and 6 Gy irradiation, respectively. The molecular structure of the hprt mutations was determined by multiplex polymerase chain reaction of nine exons. Approximately 60% of 3 Gy mutants lost a part or the entire hprt gene, and the other mutants showed point mutations like spontaneous mutants. All 6 Gy mutants show total gene deletion. The chromosomes of the hprt mutants were analyzed by Whole Human Chromosome X Paint FISH or Xq telomere FISH. None of the point or partial gene deletion mutants showed aberrations of X-chromosome, however total gene deletion mutants induced translocations and dicentrics involving chromosome X. These results suggest that large deletion caused by DNA double strand breaks destabilizes chromosome structure, which may be involved in an induction of radiation-induced genomic instability

Generalised deletion designs | Gachii | African Journal of Science ...

African Journals Online (AJOL)

In this paper asymmetrical single replicate factorial designs are constructed from symmetrical single replicate factorial designs using the deletion technique. The study is along the lines of Voss(1986), Chauhan(1989) and Gachii and Odhiambo(1997). We give results for the general order deletion designs of the form sn-m1(s ...

Performance of quantum cloning and deleting machines over coherence

Science.gov (United States)

Karmakar, Sumana; Sen, Ajoy; Sarkar, Debasis

2017-10-01

Coherence, being at the heart of interference phenomena, is found to be an useful resource in quantum information theory. Here we want to understand quantum coherence under the combination of two fundamentally dual processes, viz., cloning and deleting. We found the role of quantum cloning and deletion machines with the consumption and generation of quantum coherence. We establish cloning as a cohering process and deletion as a decohering process. Fidelity of the process will be shown to have connection with coherence generation and consumption of the processes.

Familial deletion 18p syndrome: case report

Directory of Open Access Journals (Sweden)

Lemyre Emmanuelle

2006-07-01

Full Text Available Abstract Background Deletion 18p is a frequent deletion syndrome characterized by dysmorphic features, growth deficiencies, and mental retardation with a poorer verbal performance. Until now, five families have been described with limited clinical description. We report transmission of deletion 18p from a mother to her two daughters and review the previous cases. Case presentation The proband is 12 years old and has short stature, dysmorphic features and moderate mental retardation. Her sister is 9 years old and also has short stature and similar dysmorphic features. Her cognitive performance is within the borderline to mild mental retardation range. The mother also presents short stature. Psychological evaluation showed moderate mental retardation. Chromosome analysis from the sisters and their mother revealed the same chromosomal deletion: 46, XX, del(18(p11.2. Previous familial cases were consistent regarding the transmission of mental retardation. Our family differs in this regard with variable cognitive impairment and does not display poorer verbal than non-verbal abilities. An exclusive maternal transmission is observed throughout those families. Women with del(18p are fertile and seem to have a normal miscarriage rate. Conclusion Genetic counseling for these patients should take into account a greater range of cognitive outcome than previously reported.

Analysis of Dystrophin Gene Deletions by Multiplex PCR in Moroccan Patients

Directory of Open Access Journals (Sweden)

Aziza Sbiti

2002-01-01

Full Text Available Duchenne and Becker muscular dystrophy (DMD and BMD are X-linked diseases resulting from a defect in the dystrophin gene located on Xp21. DMD is the most frequent neuromuscular disease in humans (1/3500 male newborn. Deletions in the dystrophin gene represent 65% of mutations in DMD/BMD patients. We have analyzed DNA from 72 Moroccan patients with DMD/BMD using the multiplex polymerase chain reaction (PCR to screen for exon deletions within the dystrophin gene, and to estimate the frequency of these abnormalities. We found dystrophin gene deletions in 37 cases. Therefore the frequency in Moroccan DMD/BMD patients is about 51.3%. All deletions were clustered in the two known hot-spots regions, and in 81% of cases deletions were detected in the region from exon 43 to exon 52. These findings are comparable to those reported in other studies. It is important to note that in our population, we can first search for deletions of DMD gene in the most frequently deleted exons determined by this study. This may facilitate the molecular diagnosis of DMD and BMD in our country.

Partial USH2A deletions contribute to Usher syndrome in Denmark.

Science.gov (United States)

Dad, Shzeena; Rendtorff, Nanna D; Kann, Erik; Albrechtsen, Anders; Mehrjouy, Mana M; Bak, Mads; Tommerup, Niels; Tranebjærg, Lisbeth; Rosenberg, Thomas; Jensen, Hanne; Møller, Lisbeth B

2015-12-01

Usher syndrome is an autosomal recessive disorder characterized by congenital hearing impairment, progressive visual loss owing to retinitis pigmentosa and in some cases vestibular dysfunction. Usher syndrome is divided into three subtypes, USH1, USH2 and USH3. Twelve loci and eleven genes have so far been identified. Duplications and deletions in PCDH15 and USH2A that lead to USH1 and USH2, respectively, have previously been identified in patients from United Kingdom, Spain and Italy. In this study, we investigate the proportion of exon deletions and duplications in PCDH15 and USH2A in 20 USH1 and 30 USH2 patients from Denmark using multiplex ligation-dependent probe amplification (MLPA). Two heterozygous deletions were identified in USH2A, but no deletions or duplications were identified in PCDH15. Next-generation mate-pair sequencing was used to identify the exact breakpoints of the two deletions identified in USH2A. Our results suggest that USH2 is caused by USH2A exon deletions in a small fraction of the patients, whereas deletions or duplications in PCDH15 might be rare in Danish Usher patients.

Reduction of Exudates (Browning) in Sugarcane Micro Propagation ...

African Journals Online (AJOL)

... of this variety, ascorbic acid and citric acid was added as constituent of the media using MS and stock at different concentrations. The browning was reduced drastically at the addition of 0.1g/litre ascorbic acid and 0.15g/litre citric acid. Keywords: reduction, exudates browning, micro propagation, sugarcane. Nig J. Biotech.

Targeted deletion of Kcne2 impairs HCN channel function in mouse thalamocortical circuits.

Directory of Open Access Journals (Sweden)

Shui-Wang Ying

Full Text Available Hyperpolarization-activated, cyclic nucleotide-gated (HCN channels generate the pacemaking current, I(h, which regulates neuronal excitability, burst firing activity, rhythmogenesis, and synaptic integration. The physiological consequence of HCN activation depends on regulation of channel gating by endogenous modulators and stabilization of the channel complex formed by principal and ancillary subunits. KCNE2 is a voltage-gated potassium channel ancillary subunit that also regulates heterologously expressed HCN channels; whether KCNE2 regulates neuronal HCN channel function is unknown.We investigated the effects of Kcne2 gene deletion on I(h properties and excitability in ventrobasal (VB and cortical layer 6 pyramidal neurons using brain slices prepared from Kcne2(+/+ and Kcne2(-/- mice. Kcne2 deletion shifted the voltage-dependence of I(h activation to more hyperpolarized potentials, slowed gating kinetics, and decreased I(h density. Kcne2 deletion was associated with a reduction in whole-brain expression of both HCN1 and HCN2 (but not HCN4, although co-immunoprecipitation from whole-brain lysates failed to detect interaction of KCNE2 with HCN1 or 2. Kcne2 deletion also increased input resistance and temporal summation of subthreshold voltage responses; this increased intrinsic excitability enhanced burst firing in response to 4-aminopyridine. Burst duration increased in corticothalamic, but not thalamocortical, neurons, suggesting enhanced cortical excitatory input to the thalamus; such augmented excitability did not result from changes in glutamate release machinery since miniature EPSC frequency was unaltered in Kcne2(-/- neurons.Loss of KCNE2 leads to downregulation of HCN channel function associated with increased excitability in neurons in the cortico-thalamo-cortical loop. Such findings further our understanding of the normal physiology of brain circuitry critically involved in cognition and have implications for our understanding of

36 CFR 902.14 - Deletion of nondiscloseable information from requested records.

Science.gov (United States)

2010-07-01

... 36 Parks, Forests, and Public Property 3 2010-07-01 2010-07-01 false Deletion of nondiscloseable... AVENUE DEVELOPMENT CORPORATION FREEDOM OF INFORMATION ACT General Administration § 902.14 Deletion of... segregable after deletion of the nondiscloseable portions, will be released. If the information in the...

46 CFR 67.513 - Application for evidence of deletion from documentation.

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2010-10-01

... 46 Shipping 2 2010-10-01 2010-10-01 false Application for evidence of deletion from documentation... AND MEASUREMENT OF VESSELS DOCUMENTATION OF VESSELS Fees § 67.513 Application for evidence of deletion from documentation. An application fee is charged for evidence of deletion from documentation in...

Conditional Deletion of Pten Causes Bronchiolar Hyperplasia

OpenAIRE

Davé, Vrushank; Wert, Susan E.; Tanner, Tiffany; Thitoff, Angela R.; Loudy, Dave E.; Whitsett, Jeffrey A.

2007-01-01

Tumor suppressor phosphatase and tensin homolog deleted on chromosome 10 (PTEN) is a lipid phosphatase that regulates multiple cellular processes including cell polarity, migration, proliferation, and carcinogenesis. In this work, we demonstrate that conditional deletion of Pten (PtenΔ/Δ) in the respiratory epithelial cells of the developing mouse lung caused epithelial cell proliferation and hyperplasia as early as 4 to 6 weeks of age. While bronchiolar cell differentiation was normal, as in...

Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa.

Science.gov (United States)

García-García, Gema; Aller, Elena; Jaijo, Teresa; Aparisi, Maria J; Larrieu, Lise; Faugère, Valérie; Blanco-Kelly, Fiona; Ayuso, Carmen; Roux, Anne-Francoise; Millán, José M

2014-01-01

The aim of the present work was to identify and characterize large rearrangements involving the USH2A gene in patients with Usher syndrome and nonsyndromic retinitis pigmentosa. The multiplex ligation-dependent probe amplification (MLPA) technique combined with a customized array-based comparative genomic hybridization (aCGH) analysis was applied to 40 unrelated patients previously screened for point mutations in the USH2A gene in which none or only one pathologic mutation was identified. We detected six large deletions involving USH2A in six out of the 40 cases studied. Three of the patients were homozygous for the deletion, and the remaining three were compound heterozygous with a previously identified USH2A point mutation. In five of these cases, the patients displayed Usher type 2, and the remaining case displayed nonsyndromic retinitis pigmentosa. The exact breakpoint junctions of the deletions found in USH2A in four of these cases were characterized. Our study highlights the need to develop improved efficient strategies of mutation screening based upon next generation sequencing (NGS) that reduce cost, time, and complexity and allow simultaneous identification of all types of disease-causing mutations in diagnostic procedures.

34 CFR 5.16 - Deletion of identifying details.

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2010-07-01

... 34 Education 1 2010-07-01 2010-07-01 false Deletion of identifying details. 5.16 Section 5.16 Education Office of the Secretary, Department of Education AVAILABILITY OF INFORMATION TO THE PUBLIC PURSUANT TO PUB. L. 90-23 (Eff. until 7-14-10) What Records Are Available § 5.16 Deletion of identifying...

Deletion of Type I glutamine synthetase deregulates nitrogen metabolism and increases ethanol production in Clostridium thermocellum

Energy Technology Data Exchange (ETDEWEB)

Rydzak, Thomas [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States). Biosciences Division, BioEnergy Science Center; Garcia, David [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States). Biosciences Division, BioEnergy Science Center; Stevenson, David M. [Univ. of Wisconsin, Madison, WI (United States). Dept. of Bacteriology; Sladek, Margaret [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States). Biosciences Division, BioEnergy Science Center; Klingeman, Dawn M. [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States). Biosciences Division, BioEnergy Science Center; Holwerda, Evert K. [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States). Biosciences Division; Dartmouth College, Hanover, NH (United States). Thayer School of Engineering; Amador-Noguez, Daniel [Univ. of Wisconsin, Madison, WI (United States). Dept. of Bacteriology; Brown, Steven D. [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States). Biosciences Division, BioEnergy Science Center; Guss, Adam M. [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States). Biosciences Division, BioEnergy Science Center

2017-05-01

Clostridium thermocellum rapidly deconstructs cellulose and ferments resulting hydrolysis products into ethanol and other products, and is thus a promising platform organism for the development of cellulosic biofuel production via consolidated bioprocessing. And while recent metabolic engineering strategies have targeted eliminating canonical fermentation products (acetate, lactate, formate, and H₂), C. thermocellum also secretes amino acids, which has limited ethanol yields in engineered strains to approximately 70% of the theoretical maximum. To decrease amino acid secretion, we attempted to reduce ammonium assimilation by deleting the Type I glutamine synthetase (glnA) in C. thermocellum. Deletion of glnA reduced levels of secreted valine and total amino acids by 53% and 44% respectively, and increased ethanol yields by 53%. RNA-seq analysis revealed that genes encoding the RNF-complex were more highly expressed in ΔglnA and may have a role in improving NADH-availability for ethanol production. While a significant up-regulation of genes involved in nitrogen assimilation and urea uptake suggested that deletion of glnA induces a nitrogen starvation response, metabolomic analysis showed an increase in intracellular glutamine and α-ketoglutarate levels indicative of nitrogen-rich conditions. Here, we propose that deletion of glnA causes deregulation of nitrogen metabolism, leading to overexpression of nitrogen metabolism genes and, in turn, elevated glutamine/α-ketoglutarate levels. Here we demonstrate that perturbation of nitrogen assimilation is a promising strategy to redirect flux from the production of nitrogenous compounds toward biofuels in C. thermocellum.

Clinical and molecuar characterization of Brazilian patients with growth hormone gene deletions

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I.J.P. Arnhold

1998-04-01

Full Text Available Genomic DNA from 23 patients with isolated growth hormone (GH deficiency (12 males and 11 females: heights -4.9 ± 1.4 SDS was screened for GH gene deletions by restriction endonuclease analysis of polymerase chain reaction amplification products. Three unrelated patients had typical features of severe GH deficiency and deletions (6.7 kb in two and 7.6 kb in one of the GH gene. The two patients with 6.7-kb deletions developed growth-attenuating anti-GH antibodies whereas the patient with the 7.6-kb deletion continued to grow with GH replacement therapy. Our finding that 3/23 (~13% Brazilian subjects had GH gene deletions agrees with previous studies of severe isolated GH deficiency subjects in other populations. Two of three subjects (67% with deletions developed blocking antibodies despite administration of exogenous GH at low doses. Interestingly, only 1/10 of cases with affected relatives or parental consanguinity had GH-1 gene deletions

Direct Evidence of Brown Adipocytes in Different Fat Depots in Children

Science.gov (United States)

Rockstroh, Denise; Landgraf, Kathrin; Wagner, Isabel Viola; Gesing, Julia; Tauscher, Roy; Lakowa, Nicole; Kiess, Wieland; Bühligen, Ulf; Wojan, Magdalena; Till, Holger; Blüher, Matthias; Körner, Antje

2015-01-01

Recent studies suggested the persistence of brown adipocytes in adult humans, as opposed to being exclusively present in infancy. In this study, we investigated the presence of brown-like adipocytes in adipose tissue (AT) samples of children and adolescents aged 0 to 18 years and evaluated the association with age, location, and obesity. For this, we analysed AT samples from 131 children and 23 adults by histological, immunohistochemical and expression analyses. We detected brown-like and UCP1 positive adipocytes in 10.3% of 87 lean children (aged 0.3 to 10.7 years) and in one overweight infant, whereas we did not find brown adipocytes in obese children or adults. In our samples, the brown-like adipocytes were interspersed within white AT of perirenal, visceral and also subcutaneous depots. Samples with brown-like adipocytes showed an increased expression of UCP1 (>200fold), PRDM16 (2.8fold), PGC1α and CIDEA while other brown/beige selective markers, such as PAT2, P2RX5, ZIC1, LHX8, TMEM26, HOXC9 and TBX1 were not significantly different between UCP1 positive and negative samples. We identified a positive correlation between UCP1 and PRDM16 within UCP1 positive samples, but not with any other brown/beige marker. In addition, we observed significantly increased PRDM16 and PAT2 expression in subcutaneous and visceral AT samples with high UCP1 expression in adults. Our data indicate that brown-like adipocytes are present well beyond infancy in subcutaneous depots of non-obese children. The presence was not restricted to typical perirenal locations, but they were also interspersed within WAT of visceral and subcutaneous depots. PMID:25706927

UCP2 and 3 deletion screening and distribution in 15 pig breeds.

Science.gov (United States)

Li, Yanhua; Li, Hanjie; Zhao, Xingbo; Li, Ning; Wu, Changxin

2007-02-01

The uncoupling protein family is a mitochondrial anion carrier family. It plays an important role in the biological traits of animal body weight, basal metabolic rate and energy conversion. Using PCR and PCR-SSCP, we scanned the porcine uncoupling protein 2 gene (UCP2) and uncoupling protein 3 gene (UCP3) and found seven deletion sites, three in UCP2 and four in UCP3. The deletions in 15 pig breeds showed that deletion influenced weight. The genotype compounding of seven deletion sites in 15 pig breeds had significant effects on performance traits of the pig, such as body weight. We predicted the potential protein factor binding sites using the transcription factor analysis tool TFSearch version 1.3 online. Two deletions (1830 nt and 3219 nt) in UCP3 were found to change the transcriptional factor sites. The 16 bp deletion in 1830 nt added a SP1 site and a 6 bp deletion in 3219 nt removed two MZF1 sites. Seven deletion polymorphisms were covered in introns of linkage genes of UCP2 and UCP3, showing that UCPs have conservation and genetic reliability.

Molecular studies of deletions at the human steroid sulfatase locus

International Nuclear Information System (INIS)

Shapiro, L.J.; Yen, P.; Pomerantz, D.; Martin, E.; Rolewic, L.; Mohandas, T.

1989-01-01

The human steroid sulfatase gene (STS) is located on the distal X chromosome short arm close to the pseudoautosomal region but in a segment of DNA that is unique to the X chromosome. In contrast to most X chromosome-encoded genes, STS expression is not extinguished during the process of X chromosome inactivation. Deficiency of STS activity produced the syndrome of X chromosome-linked ichthyosis, which is one of the most common inborn errors of metabolism in man. Approximately 90% of STS - individuals have large deletions at the STS locus. The authors and others have found that the end points of such deletions are heterogeneous in their location. One recently ascertained subject was observed to have a 40-kilobase deletion that is entirely intragenic, permitting the cloning and sequencing of the deletion junction. Studies of this patient and of other X chromosome sequences in other subjects permit some insight into the mechanism(s) responsible for generating frequent deletions on the short arm of the X chromosome

Regulation of glycolysis in brown adipocytes by HIF-1α

DEFF Research Database (Denmark)

Basse, Astrid L; Isidor, Marie S; Winther, Sally

2017-01-01

Brown adipose tissue takes up large amounts of glucose during cold exposure in mice and humans. Here we report an induction of glucose transporter 1 expression and increased expression of several glycolytic enzymes in brown adipose tissue from cold-exposed mice. Accordingly, these genes were also...... with glucose as the only exogenously added fuel. These data suggest that HIF-1α-dependent regulation of glycolysis is necessary for maximum glucose metabolism in brown adipocytes....

Clival encephalocele and 5q15 deletion: a case report.

Science.gov (United States)

Puvabanditsin, Surasak; Malik, Imran; Garrow, Eugene; Francois, Lissa; Mehta, Rajeev

2015-03-01

A preterm neonate presenting with respiratory distress after birth was found to have a clival encephalocele, which is a variant of a basal encephalocele, and hypoplasia of the cerebellum. Genetic studies revealed a small deletion of the long arm of chromosome 5: 5q15 deletion. We report a rare variant of a basal encephalocele with a cerebellar malformation and 5q15 deletion. © The Author(s) 2014.

Male gametophytic sterility. 1 - Gametic sterilities and deletions in petunia

Energy Technology Data Exchange (ETDEWEB)

Cornu, A.; Maizonnier, D. (Station d' Amelioration des Plantes de l' I.N.R.A., Dijon (France))

1982-01-01

Terminal deletions induced by ionizing radiations in Petunia are not sexually transmitted. Cytogenetic study of plants with a heterozygous deletion and their progenies shows that this lack of transmission is accompanied by a gametic semi-sterility due to the fact that gametes carrying the deleted chromosome are not viable. The interest of such a male sterility with a gametophytic determinism for the study of sporophyte-gametophyte relationships is underlined.

New Brown Dwarf Discs in Upper Scorpius Observed with WISE

Science.gov (United States)

Dawson, P.; Scholz, A.; Ray, T. P.; Natta, A.; Marsh, K. A.; Padgett, D.; Ressler, M. E.

2013-01-01

We present a census of the disc population for UKIDSS selected brown dwarfs in the 5-10 Myr old Upper Scorpius OB association. For 116 objects originally identified in UKIDSS, the majority of them not studied in previous publications, we obtain photometry from the Wide-Field Infrared Survey Explorer data base. The resulting colour magnitude and colour colour plots clearly show two separate populations of objects, interpreted as brown dwarfs with discs (class II) and without discs (class III). We identify 27 class II brown dwarfs, 14 of them not previously known. This disc fraction (27 out of 116, or 23%) among brown dwarfs was found to be similar to results for K/M stars in Upper Scorpius, suggesting that the lifetimes of discs are independent of the mass of the central object for low-mass stars and brown dwarfs. 5 out of 27 discs (19 per cent) lack excess at 3.4 and 4.6 microns and are potential transition discs (i.e. are in transition from class II to class III). The transition disc fraction is comparable to low-mass stars.We estimate that the time-scale for a typical transition from class II to class III is less than 0.4 Myr for brown dwarfs. These results suggest that the evolution of brown dwarf discs mirrors the behaviour of discs around low-mass stars, with disc lifetimes of the order of 5 10 Myr and a disc clearing time-scale significantly shorter than 1 Myr.

Cellular origins of cold-induced brown adipocytes in adult mice.

Science.gov (United States)

Lee, Yun-Hee; Petkova, Anelia P; Konkar, Anish A; Granneman, James G

2015-01-01

This work investigated how cold stress induces the appearance of brown adipocytes (BAs) in brown and white adipose tissues (WATs) of adult mice. In interscapular brown adipose tissue (iBAT), cold exposure increased proliferation of endothelial cells and interstitial cells expressing platelet-derived growth factor receptor, α polypeptide (PDGFRα) by 3- to 4-fold. Surprisingly, brown adipogenesis and angiogenesis were largely restricted to the dorsal edge of iBAT. Although cold stress did not increase proliferation in inguinal white adipose tissue (ingWAT), the percentage of BAs, defined as multilocular adipocytes that express uncoupling protein 1, rose from undetectable to 30% of total adipocytes. To trace the origins of cold-induced BAs, we genetically tagged PDGFRα(+) cells and adipocytes prior to cold exposure, using Pdgfra-Cre recombinase estrogen receptor T2 fusion protein (CreER(T2)) and adiponectin-CreER(T2), respectively. In iBAT, cold stress triggered the proliferation and differentiation of PDGFRα(+) cells into BAs. In contrast, all newly observed BAs in ingWAT (5207 out of 5207) were derived from unilocular adipocytes tagged by adiponectin-CreER(T2)-mediated recombination. Surgical denervation of iBAT reduced cold-induced brown adipogenesis by >85%, whereas infusion of norepinephrine (NE) mimicked the effects of cold in warm-adapted mice. NE-induced de novo brown adipogenesis in iBAT was eliminated in mice lacking β1-adrenergic receptors. These observations identify a novel tissue niche for brown adipogenesis in iBAT and further define depot-specific mechanisms of BA recruitment. © FASEB.

The "brown" environmental agenda and the constitutional duties of ...

African Journals Online (AJOL)

This note explores the interrelationship between ecologically sustainable development (the green environmental agenda) and pro-poor urban development and environmental health (the brown environmental agenda) in relation to local government in South Africa. The meaning and relevance of the brown agenda versus ...

Fluorescence in situ hybridization evaluation of chromosome deletion patterns in prostate cancer.

Science.gov (United States)

Huang, S F; Xiao, S; Renshaw, A A; Loughlin, K R; Hudson, T J; Fletcher, J A

1996-11-01

Various nonrandom chromosomal aberrations have been identified in prostate carcinoma. These aberrations include deletions of several chromosome regions, particularly the chromosome 8 short arm. Large-scale numerical aberrations, reflected in aberrant DNA ploidy, are also found in a minority of cases. However, it is unclear whether prostate carcinomas contain aberrations of certain chromosome regions that are deleted frequently in other common types of cancer. In this study, we performed dual-color fluorescence in situ hybridization on intact nuclei from touch preparations of 16 prostate cancers. Chromosome copy number was determined using pericentromeric probes, whereas potential chromosome arm deletions were evaluated using yeast artificial chromosome (YAC) and P1 probes. Two YAC probes targeted chromosome 8 short arm regions known to be deleted frequently in prostate cancer. Other YACs and P1s were for chromosome regions, including 1p22, 3p14, 6q21, 9p21, and 22q12, that are deletion targets in a variety of cancers although not extensively studied in prostate cancer. Hybridization efficiencies and signal intensities were excellent for both repeat sequence (alpha-satellite) and single, copy (YAC and P1) fluorescence in situ hybridization probes. Of 16 prostate cancers, 11 had clonal aberrations of 1 or more of the 13 chromosome regions evaluated, and 10 cases (62.5%) had 8p deletions, including 4 cases with 8p deletion in virtually all cells and aneuploidy in only a subset of those deleted cells. Deletions at 3p14, 6q21, and 22q12 were identified in 2, 1, and 1 case, respectively, and each of those cases had a similarly sized cell population with 8p deletion. These studies confirm 8p deletion in the majority of prostate carcinomas. 8p deletions appear to be early events in prostate tumorigenesis, often antedating aneuploidy. Fluorescence in situ hybridization strategies incorporating pericentromeric and single-copy regional chromosome probes offer a powerful and

Black, White, and Brown: The Transformation of Public Education in America

Science.gov (United States)

Willie, Charles Vert; Willie, Sarah Susannah

2005-01-01

This article reflects upon changes in U.S. education since the U.S. Supreme Court's 1954 decision in Brown v. the Board of Education of Topeka, Kansas. The authors reject both the naively hopeful and the bitterly cynical interpretations of the efficacy of Brown in favor of a more moderate assessment: Brown has had many positive effects, they…

[Mitochondrial DNA4568 deletions in guinea-pig associated with presbycusis].

Science.gov (United States)

Wei, Xue-mei; Yang, Yuan; Liang, Chuang-yu; Zheng, Zhong

2006-12-01

To determine weather or not the mtDNA(4568) deletions in guinea-pig contribute to the development of presbycusis. Forty-four guinea-pigs were divided into 2 groups: group A (young control group, normal hearing, 22 guineas) and group B (aged group). The group B was subdivided into group B(1) (old normal hearing, 6 guineas) and group B(2) (old hearing loss, 16 guineas). First the guineas were tested by auditory brainstem response (ABR), and then the Cortis's tissues, auditory nerve tissues, brain and blood were harvested and the total DNA was extracted. The mtDNA(4568) deletion was analyzed by PCR. Hearing loss was occurred with age. The mtDNA(4568) deletion incidence of aged group in all tissues was significant higher than that of young control group (Ppresbycusis (B(2) group) were significant higher than that of aged normal hearing group (B(1) group) (Ppresbycusis and aged normal hearing group (P> 0.05). mtDNA(4568) deletion of guinea-pig possibly contributes to aging and mtDNA(4568) deletion in Cortis's and auditory nerve tissues of guinea-pig may be associated with presbycusis. There is no enough evidence to prove that the mtDNA(4568) deletions in brain and blood are related with presbycusis.

What happened to the Kuo-Brown interaction?

International Nuclear Information System (INIS)

Osnes, E.

1987-01-01

Twenty years of efforts to calculate the shell-model effective interaction, starting from the free nucleon-nucleon (NN) interaction and using many-body perturbation theory, are briefly reviewed. A description is given of the pioneering work of Kuo and Brown, in which the effective interaction was approximated by the Bethe-Brueckner-Goldstone G-matrix and the lowest order core-polarization correction. Subsequent developments which cast doubt upon the simple Kuo-Brown approximation are reviewed. Some of these problems have been shown to arise from inadequate treatment of various higher order contributions, whereas other problems are related to the strong tensor component of the NN interaction used. In fact, modern meson-exchange potentials have much weaker tensor forces and give rise to effective interactions which are similar to the original Kuo-Brown interaction. Applications of these new effective forces to shell-model calculations in the sd-shell are discussed

Brown dwarfs forming in discs: Where to look for them?

Directory of Open Access Journals (Sweden)

Stamatellos D.

2011-07-01

Full Text Available A large fraction of the observed brown dwarfs may form by gravitational fragmentation of unstable discs. This model reproduces the brown dwarf desert, and provides an explanation for the existence of planetary-mass objects and for the binary properties of low-mass objects. We have performed an ensemble of radiative hydrodynamic simulations and determined the statistical properties of the low-mass objects produced by gravitational fragmentation of discs. We suggest that there is a population of brown dwarfs loosely bound on wide orbits (100–5000 AU around Sun-like stars that surveys of brown dwarf companions should target. Our simulations also indicate that planetary-mass companions to Sun-like stars are unlikely to form by disc fragmentation.

14 CFR 1206.202 - Deletion of segregable portions of a record.

Science.gov (United States)

2010-01-01

... 14 Aeronautics and Space 5 2010-01-01 2010-01-01 false Deletion of segregable portions of a record... AVAILABILITY OF AGENCY RECORDS TO MEMBERS OF THE PUBLIC Records Available § 1206.202 Deletion of segregable... that indication would harm an interest protected by the exemption in Subpart 3 under which the deletion...

TTY2 genes deletions as genetic risk factor of male infertility.

Science.gov (United States)

Shaveisi-Zadeh, F; Alibakhshi, R; Asgari, R; Rostami-Far, Z; Bakhtiari, M; Abdi, H; Movafagh, A; Mirfakhraie, R

2017-02-28

Y chromosome has a number of genes that are expressed in testis and have a role in spermatogenesis. TTY2L12A and TTY2L2A are the members of testis transcript Y2 (TTY2) that are Y linked multi-copy gene families, located on Yp11 and Yq11 loci respectively. The aim of this study was to investigate frequency of TTY2L12A and TTY2L2A deletions in azoospermic patients compared with fertile males. This study was performed on 45 infertile males with idiopathic azoospermia without any AZF micro deletions (group A), 33 infertile males with azoospermia which do not screened for AZF micro deletions (group B) and 65 fertile males (group C), from October 2013 to April 2015 in west of Iran. Polymerase chain reaction (PCR) method was used for detection of TTY2L12A and TTY2L2A gene deletions in studied groups. No deletions were detected in normal fertile males of group C. 1 out of 45 azoospermic males of group A (2.22%) and 3 out of 33 azoospermic males of group B (9.09%) had TTY2L2A deletion (p= 0.409 and p= 0.036 respectively), also 1 out of 45 azoospermic males of group A (2.22%) and 4 out of 33 azoospermic males of group B (12.12%) had TTY2L12A deletion (p= 0.409 and p= 0.011 respectively).  None of azoospermic males in Group A and B had deletions in both genes. Our data showed significant correlation between non-obstructive azoospermia and TTY2L12A and TTY2L2A deletions. Thus, it seems that TTY2L12A and TTY2L2A deletions can consider as one of the genetic risk factors for non-obstructive azoospermia.

Startup operation of Browns Ferry's 1152-MW nuclear units

International Nuclear Information System (INIS)

Calhoun, J.R.; Green, H.J.; Beers, R.B.

1975-01-01

An overview is presented of startup operation for the Browns Ferry-1 reactor, and comparisons are made with the startup of Browns Ferry-2. Included are comments on the selection of the BWR type steam supply system, reactor fueling, problems encountered, and plant availability

Phytase activity in brown rice during steeping and sprouting

NARCIS (Netherlands)

Ou, K.; Cheng, Y.; Xing, Y.; Lin, L.; Nout, M.J.R.; Liang, J.

2011-01-01

Phytase in brown rice will be activated and accumulated during seed germination. Changes of phytase activity in brown rice during two stages of germination (steeping and sprouting) affected by process conditions were studied. It was shown that steeping led to significant decrease of phytase activity

Being Black and Brown in the 21st Century

Directory of Open Access Journals (Sweden)

Pierre W. Orelus

2012-11-01

Full Text Available Depending on one’s level of understanding and awareness about the plight of Black and Brown people, one might argue that they are better off today than they were 50 years ago or so, especially when one remembers the Jim Crow era during which Black and Brown people were ruthlessly brutalized, particularly by White supremacist groups such as the Klu Klux Kan. However, if one critically analyzed the achievement gap between students of color and their White counterparts, the decline in incomes, and other forms of educational and socioeconomic inequality that Black and Brown people, particularly poor students of color, have been experiencing for the last several decades or so, one would realize that substantially nothing has changed for them. In light of this view, this article explores the educational and socioeconomic conditions of People of Color, including those of linguistically and culturally diverse students. Specifically, it examines the ways and the degree to which lack of resources combined with institutional racism and the legacy of slavery continue to limit the life chances of Black and Brown people in the 21st century. The author ends this article making recommendations to counter inequality in schools and society at large that Black and Brown people have been facing.

The physiological basis of the migration continuum in brown trout (Salmo trutta).

Science.gov (United States)

Boel, Mikkel; Aarestrup, Kim; Baktoft, Henrik; Larsen, Torben; Søndergaard Madsen, Steffen; Malte, Hans; Skov, Christian; Svendsen, Jon C; Koed, Anders

2014-01-01

Partial migration is common in many animal taxa; however, the physiological variation underpinning migration strategies remains poorly understood. Among salmonid fishes, brown trout (Salmo trutta) is one of the species that exhibits the most complex variation in sympatric migration strategies, expressed as a migration continuum, ranging from residency to anadromy. In looking at brown trout, our objective with this study was to test the hypothesis that variation in migration strategies is underpinned by physiological variation. Prior to migration, physiological samples were taken from fish in the stream and then released at the capture site. Using telemetry, we subsequently classified fish as resident, short-distance migrants (potamodromous), or long-distance migrants (potentially anadromous). Our results revealed that fish belonging to the resident strategy differed from those exhibiting any of the two migratory strategies. Gill Na,K-ATPase activity, condition factor, and indicators of nutritional status suggested that trout from the two migratory strategies were smoltified and energetically depleted before leaving the stream, compared to those in the resident strategy. The trout belonging to the two migratory strategies were generally similar; however, lower triacylglycerides levels in the short-distance migrants indicated that they were more lipid depleted prior to migration compared with the long-distance migrants. In the context of migration cost, we suggest that additional lipid depletion makes migrants more inclined to terminate migration at the first given feeding opportunity, whereas individuals that are less lipid depleted will migrate farther. Collectively, our data suggest that the energetic state of individual fish provides a possible mechanism underpinning the migration continuum in brown trout.

Simplicial complexes of graphs

CERN Document Server

Jonsson, Jakob

2008-01-01

A graph complex is a finite family of graphs closed under deletion of edges. Graph complexes show up naturally in many different areas of mathematics, including commutative algebra, geometry, and knot theory. Identifying each graph with its edge set, one may view a graph complex as a simplicial complex and hence interpret it as a geometric object. This volume examines topological properties of graph complexes, focusing on homotopy type and homology. Many of the proofs are based on Robin Forman's discrete version of Morse theory. As a byproduct, this volume also provides a loosely defined toolbox for attacking problems in topological combinatorics via discrete Morse theory. In terms of simplicity and power, arguably the most efficient tool is Forman's divide and conquer approach via decision trees; it is successfully applied to a large number of graph and digraph complexes.

Deletion in the EVC2 Gene Causes Chondrodysplastic Dwarfism in Tyrolean Grey Cattle

Science.gov (United States)

Murgiano, Leonardo; Jagannathan, Vidhya; Benazzi, Cinzia; Bolcato, Marilena; Brunetti, Barbara; Muscatello, Luisa Vera; Dittmer, Keren; Piffer, Christian; Gentile, Arcangelo; Drögemüller, Cord

2014-01-01

During the summer of 2013 seven Italian Tyrolean Grey calves were born with abnormally short limbs. Detailed clinical and pathological examination revealed similarities to chondrodysplastic dwarfism. Pedigree analysis showed a common founder, assuming autosomal monogenic recessive transmission of the defective allele. A positional cloning approach combining genome wide association and homozygosity mapping identified a single 1.6 Mb genomic region on BTA 6 that was associated with the disease. Whole genome re-sequencing of an affected calf revealed a single candidate causal mutation in the Ellis van Creveld syndrome 2 (EVC2) gene. This gene is known to be associated with chondrodysplastic dwarfism in Japanese Brown cattle, and dwarfism, abnormal nails and teeth, and dysostosis in humans with Ellis-van Creveld syndrome. Sanger sequencing confirmed the presence of a 2 bp deletion in exon 19 (c.2993_2994ACdel) that led to a premature stop codon in the coding sequence of bovine EVC2, and was concordant with the recessive pattern of inheritance in affected and carrier animals. This loss of function mutation confirms the important role of EVC2 in bone development. Genetic testing can now be used to eliminate this form of chondrodysplastic dwarfism from Tyrolean Grey cattle. PMID:24733244

Partial USH2A deletions contribute to Usher syndrome in Denmark

DEFF Research Database (Denmark)

Dad, Shzeena; Rendtorff, Nanna Dahl; Kann, Erik

2015-01-01

deletions identified in USH2A. Our results suggest that USH2 is caused by USH2A exon deletions in a small fraction of the patients, whereas deletions or duplications in PCDH15 might be rare in Danish Usher patients.European Journal of Human Genetics advance online publication, 25 March 2015; doi:10.1038...

Linkage and association mapping reveals the genetic basis of brown fibre (Gossypium hirsutum).

Science.gov (United States)

Wen, Tianwang; Wu, Mi; Shen, Chao; Gao, Bin; Zhu, De; Zhang, Xianlong; You, Chunyuan; Lin, Zhongxu

2018-02-24

Brown fibre cotton is an environmental-friendly resource that plays a key role in the textile industry. However, the fibre quality and yield of natural brown cotton are poor, and fundamental research on brown cotton is relatively scarce. To understand the genetic basis of brown fibre cotton, we constructed linkage and association populations to systematically examine brown fibre accessions. We fine-mapped the brown fibre region, Lc 1 , and dissected it into 2 loci, qBF-A07-1 and qBF-A07-2. The qBF-A07-1 locus mediates the initiation of brown fibre production, whereas the shade of the brown fibre is affected by the interaction between qBF-A07-1 and qBF-A07-2. Gh_A07G2341 and Gh_A07G0100 were identified as candidate genes for qBF-A07-1 and qBF-A07-2, respectively. Haploid analysis of the signals significantly associated with these two loci showed that most tetraploid modern brown cotton accessions exhibit the introgression signature of Gossypium barbadense. We identified 10 quantitative trait loci (QTLs) for fibre yield and 19 QTLs for fibre quality through a genome-wide association study (GWAS) and found that qBF-A07-2 negatively affects fibre yield and quality through an epistatic interaction with qBF-A07-1. This study sheds light on the genetics of fibre colour and lint-related traits in brown fibre cotton, which will guide the elite cultivars breeding of brown fibre cotton. © 2018 The Authors. Plant Biotechnology Journal published by Society for Experimental Biology and The Association of Applied Biologists and John Wiley & Sons Ltd.

A Rare Syndrome of Deletion in 2 Siblings

Directory of Open Access Journals (Sweden)

Aravindhan Veerapandiyan MBBS

2017-08-01

Full Text Available The Glutamate receptor, ionotropic, delta 2 gene codes for an ionotropic glutamate delta-2 receptor, which is selectively expressed in cerebellar Purkinje cells, and facilitates cerebellar synapse organization and transmission. The phenotype associated with the deletion of Glutamate receptor, ionotropic, delta 2 gene in humans was initially defined in 2013. In this case report, the authors describe 2 brothers who presented with developmental delay, tonic upward gaze, nystagmus, oculomotor apraxia, hypotonia, hyperreflexia, and ataxia. They were found to have a homozygous intragenic deletion within the Glutamate receptor, ionotropic, delta 2 gene at exon 2. Our patients serve as an addition to the literature of previously reported children with this rare clinical syndrome associated with Glutamate receptor, ionotropic, delta 2 deletion.

10 CFR 9.19 - Segregation of exempt information and deletion of identifying details.

Science.gov (United States)

2010-01-01

... 10 Energy 1 2010-01-01 2010-01-01 false Segregation of exempt information and deletion of... Information Act Regulations § 9.19 Segregation of exempt information and deletion of identifying details. (a... deletions are made from parts of the record by computer, the amount of information deleted will be indicated...

Multiple Patterns of FHIT Gene Homozygous Deletion in Egyptian Breast Cancer Patients

International Nuclear Information System (INIS)

Ismail, H.M.S.; Zakhary, N.I.; Medhat, A.M.; Karim, A.M.

2011-01-01

Fragile histidine triad (FHIT) gene encodes a putative tumour suppressor protein. Loss of Fhit protein in cancer is attributed to different genetic alterations that affect the FHIT gene structure. In this study, we investigated the pattern of homozygous deletion that target the FHIT gene exons 3 to 9 genomic structure in Egyptian breast cancer patients. We have found that 65% (40 out of 62) of the cases exhibited homozygous deletion in at least one FHIT exon. The incidence of homozygous deletion was not associated with patients clinico pathological parameters including patients age, tumour grade, tumour type, and lymph node involvement. Using correlation analysis, we have observed a strong correlation between homozygous deletions of exon 3 and exon 4 (P<0.0001). Deletions in exon 5 were positively correlated with deletions in exon 7 (P<0.0001), Exon 8 (P<0.027), and exon 9 (P=0.04). Additionally, a strong correlation was observed between exons 8 and exon 9 (P<0.0001).We conclude that FHIT gene exons are homozygously deleted at high frequency in Egyptian women population diagnosed with breast cancer. Three different patterns of homozygous deletion were observed in this population indicating different mechanisms of targeting FHIT gene genomic structure.

17q12 Deletion in a patient with Williams syndrome: Case report and review of the literature

OpenAIRE

Cohen, Lilian; Samanich, Joy; Pan, Quilu; Mehta, Lakshmi; Marion, Robert

2012-01-01

Williams syndrome (WS) is a complex genomic disorder entailing distinctive facial dysmorphism, cardiovascular abnormalities, intellectual disabilities, unusual behavioral features, and a specific cognitive profile with considerable variability. Additional symptoms include endocrine abnormalities, renal anomalies and connective tissue disorders. We report a monozygotic twin patient with WS who presented with multicystic kidneys in the newborn period, and, in addition to the typical WS deletion...

Effective production of fermentable sugars from brown macroalgae biomass.

Science.gov (United States)

Wang, Damao; Kim, Do Hyoung; Kim, Kyoung Heon

2016-11-01

Brown macroalgae are renewable and sustainable biomass resources for the production of biofuels and chemicals, owing to their high levels of carbohydrates and low levels of lignin. To increase the biological usage of brown macroalgae, it is necessary to depolymerize the polysaccharides that generate macroalgal monomeric sugars or sugar derivatives and to convert them into fermentable sugars for the production of biofuels and chemicals. In this review, we discuss the chemical and enzymatic saccharification of the major carbohydrates found in brown macroalgae and the use of the resulting constituents in the production of biofuels and chemicals, as well as high-value health-benefiting functional oligosaccharides and sugars. We also discuss recently reported experimental results, novel enzymes, and technological breakthroughs that are related to polysaccharide depolymerization, fermentable sugar production, and the biological conversion of non-favorable sugars for fermentation using industrial microorganisms. This review provides a comprehensive perspective of the efficient utilization of brown macroalgae as renewable resources for the production of biofuels and chemicals.

A case of multiple brown tumors with primary hyperparathyroidism.

Science.gov (United States)

Mori, Hiroko; Okada, Yosuke; Arao, Tadashi; Shimaziri, Shohei; Tanaka, Yoshiya

2013-01-01

We report a case of large multiple brown tumors in a patient with primary hyperparathyroidism. A 52-year-old woman suffered from pain in the ribs and developed left facial swelling and deformity. CT showed a large destructive osteolytic lesion in the left maxillary sinus. Biopsy showed a lesion with newly formed bone tissue, diffuse giant cells and deposits of hemosiderin. In addition, similar lesions were also observed in the ribs, iliac bones and pelvis. The laboratory data showed hypercalcemia and hyperparathyroidism. Cervical echo and (201)Tl-(99m)TcO(4-) scintigraphy demonstrated a right lower swollen parathyroid adenoma. The diagnosis was multiple brown tumors with primary hyperparathyroidism and parathyroidectomy was performed. Follow-up CT showed marked decreases in the size of osteolytic lesions with calcification in the brown tumors compared to pre-treatment findings. These changes were associated with marked improvement in pain and facial deformity. We described a rare case of multiple brown tumors appeared in the maxilla associated with primary hyperparathyroidism.

Introgressive hybridization: brown bears as vectors for polar bear alleles.

Science.gov (United States)

Hailer, Frank

2015-03-01

The dynamics and consequences of introgression can inform about numerous evolutionary processes. Biologists have therefore long been interested in hybridization. One challenge, however, lies in the identification of nonadmixed genotypes that can serve as a baseline for accurate quantification of admixture. In this issue of Molecular Ecology, Cahill et al. (2015) analyse a genomic data set of 28 polar bears, eight brown bears and one American black bear. Polar bear alleles are found to be introgressed into brown bears not only near a previously identified admixture zone on the Alaskan Admiralty, Baranof and Chichagof (ABC) Islands, but also far into the North American mainland. Elegantly contrasting admixture levels at autosomal and X chromosomal markers, Cahill and colleagues infer that male-biased dispersal has spread these introgressed alleles away from the Late Pleistocene contact zone. Compared to a previous study on the ABC Island population in which an Alaskan brown bear served as a putatively admixture-free reference, Cahill et al. (2015) utilize a newly sequenced Swedish brown bear as admixture baseline. This approach reveals that brown bears have been impacted by introgression from polar bears to a larger extent (up to 8.8% of their genome), than previously known, including the bear that had previously served as admixture baseline. No evidence for introgression of brown bear into polar bear is found, which the authors argue could be a consequence of selection. Besides adding new exciting pieces to the puzzle of polar/brown bear evolutionary history, the study by Cahill and colleagues highlights that wildlife genomics is moving from analysing single genomes towards a landscape genomics approach. © 2015 John Wiley & Sons Ltd.

Detection of three-base deletion by exciplex formation with perylene derivatives.

Science.gov (United States)

Kashida, Hiromu; Kondo, Nobuyo; Sekiguchi, Koji; Asanuma, Hiroyuki

2011-06-14

Here, we synthesized fluorescent DNA probes labeled with two perylene derivatives for the detection of a three-base deletion mutant. One such probe discriminated the three-base deletion mutant from the wild-type sequence by exciplex emission, and the deletion mutant was identifiable even by the naked eye. This journal is © The Royal Society of Chemistry 2011

The Mechanism of White and Brown Adipocyte Differentiation

Directory of Open Access Journals (Sweden)

Hironori Nakagami

2013-04-01

Full Text Available Obesity gives vent to many diseases such as type 2 diabetes, hypertension, and hyperlipidemia, being considered as the main causes of mortality and morbidity worldwide. The pathogenesis and pathophysiology of metabolic syndrome can well be understood by studying the molecular mechanisms that control the development and function of adipose tissue. In human body, exist two types of adipose tissue, the white and the brown one, which are reported to play various roles in energy homeostasis. The major and most efficient storage of energy occurs in the form of triglycerides in white adipose tissue while brown adipose tissue actively participates in both basal and inducible energy consumption in the form of thermogenesis. Recent years have observed a rapid and greater interest towards developmental plasticity and therapeutic potential of stromal cells those isolated from adipose tissue. The adipocyte differentiation involves a couple of regulators in the white or brown adipogenesis. Peroxisome proliferators-activated receptor-γ actively participates in regulating carbohydrate and lipid metabolism, and also acts as main regulator of both white and brown adipogenesis. This review based on our recent research, seeks to highlight the adipocyte differentiation.

50 years of brown dwarfs from prediction to discovery to forefront of research

CERN Document Server

2014-01-01

The years 2012/2013 mark the 50th anniversary of the theoretical prediction that Brown Dwarfs, i.e. degenerate objects which are just not massive enough to sustain stable hydrogen fusion, exist. Some 20 years after their discovery, how Brown Dwarfs form is still one of the main open questions in the theory of star formation. In this volume, the pioneers of Brown Dwarf research review the history of the theoretical prediction and the subsequent discovery of Brown Dwarfs. After an introduction, written by Viki Joergens, reviewing Shiv Kumar's theoretical prediction of the existence of brown dwarfs, Takenori Nakano reviews his and Hayashi's calculation of the Hydrogen Burning Minimum Mass. Both predictions happened in the early 1960s. Jill Tarter then writes on the introduction of the term 'Brown Dwarf', before Ben Oppenheimer, Rafael Rebolo and Gibor Basri describe their first discovery of Brown Dwarfs in the 1990s. Lastly, Michael Cushing and Isabelle Baraffe describe the development of the field to the curren...

Widespread introgression of mountain hare genes into Fennoscandian brown hare populations.

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Riikka Levänen

Full Text Available In Fennoscandia, mountain hare (Lepus timidus and brown hare (Lepus europaeus hybridize and produce fertile offspring, resulting in gene flow across the species barrier. Analyses of maternally inherited mitochondrial DNA (mtDNA show that introgression occur frequently, but unavailability of appropriate nuclear DNA markers has made it difficult to evaluate the scale- and significance for the species. The extent of introgression has become important as the brown hare is continuously expanding its range northward, at the apparent expense of the mountain hare, raising concerns about possible competition. We report here, based on analysis of 6833 SNP markers, that the introgression is highly asymmetrical in the direction of gene flow from mountain hare to brown hare, and that the levels of nuclear gene introgression are independent of mtDNA introgression. While it is possible that brown hares obtain locally adapted alleles from the resident mountain hares, the low levels of mountain hare alleles among allopatric brown hares suggest that hybridization is driven by stochastic processes. Interspecific geneflow with the brown hare is unlikely to have major impacts on mountain hare in Fennoscandia, but direct competition may.

Approaches to diagnosis and detection of cassava brown streak ...

African Journals Online (AJOL)

Cassava brown streak disease (CBSD) has been a problem in the East African coastal cassava growing areas for more than 70 years. The disease is caused by successful infection with Cassava Brown Streak Virus (CBSV) (Family, Potyviridae: Genus, Ipomovirus). Diagnosis of CBSD has for long been primarily leaf ...

Regulation of brown adipocyte metabolism by myostatin/follistatin signaling

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Rajan eSingh

2014-10-01

Full Text Available Obesity develops from perturbations of cellular bioenergetics, when energy uptake exceeds energy expenditure, and represents a major risk factor for the development of type 2 diabetes, dyslipidemia, cardiovascular disease, cancer, and other conditions. Brown adipose tissue (BAT has long been known to dissipate energy as heat and contribute to energy expenditure, but its presence and physiological role in adult human physiology has been questioned for years. Recent demonstrations of metabolically active brown fat depots in adult humans have revolutionized current therapeutic approaches for obesity-related diseases. The balance between white adipose tissue (WAT and BAT affects the systemic energy balance and is widely believed to be the key determinant in the development of obesity and related metabolic diseases. Members of the transforming growth factor-beta (TGF-β superfamily play an important role in regulating overall energy homeostasis by modulation of brown adipocyte characteristics. Inactivation of TGF-β/Smad3/myostatin (Mst signaling promotes browning of white adipocytes, increases mitochondrial biogenesis and protects mice from diet-induced obesity, suggesting the need for development of a novel class of TGF-β/Mst antagonists for the treatment of obesity and related metabolic diseases. We recently described an important role of follistatin (Fst, a soluble glycoprotein that is known to bind and antagonize Mst actions, during brown fat differentiation and the regulation of cellular metabolism. Here we highlight various investigations performed using different in vitro and in vivo models to support the contention that targeting TGF-β/Mst signaling enhances brown adipocyte functions and regulates energy balance, reducing insulin resistance and curbing the development of obesity and diabetes.

SILICATE EVOLUTION IN BROWN DWARF DISKS

International Nuclear Information System (INIS)

Riaz, B.

2009-01-01

We present a compositional analysis of the 10 μm silicate spectra for brown dwarf disks in the Taurus and Upper Scorpius (UppSco) star-forming regions, using archival Spitzer/Infrared Spectrograph observations. A variety in the silicate features is observed, ranging from a narrow profile with a peak at 9.8 μm, to nearly flat, low-contrast features. For most objects, we find nearly equal fractions for the large-grain and crystalline mass fractions, indicating both processes to be active in these disks. The median crystalline mass fraction for the Taurus brown dwarfs is found to be 20%, a factor of ∼2 higher than the median reported for the higher mass stars in Taurus. The large-grain mass fractions are found to increase with an increasing strength in the X-ray emission, while the opposite trend is observed for the crystalline mass fractions. A small 5% of the Taurus brown dwarfs are still found to be dominated by pristine interstellar medium-like dust, with an amorphous submicron grain mass fraction of ∼87%. For 15% of the objects, we find a negligible large-grain mass fraction, but a >60% small amorphous silicate fraction. These may be the cases where substantial grain growth and dust sedimentation have occurred in the disks, resulting in a high fraction of amorphous submicron grains in the disk surface. Among the UppSco brown dwarfs, only usd161939 has a signal-to-noise ratio high enough to properly model its silicate spectrum. We find a 74% small amorphous grain and a ∼26% crystalline mass fraction for this object.

The brown adipocyte differentiation pathway in birds: An evolutionary road not taken

Science.gov (United States)

Mezentseva, Nadejda V; Kumaratilake, Jaliya S; Newman, Stuart A

2008-01-01

Background Thermogenic brown adipose tissue has never been described in birds or other non-mammalian vertebrates. Brown adipocytes in mammals are distinguished from the more common white fat adipocytes by having numerous small lipid droplets rather than a single large one, elevated numbers of mitochondria, and mitochondrial expression of the nuclear gene UCP1, the uncoupler of oxidative phosphorylation responsible for non-shivering thermogenesis. Results We have identified in vitro inductive conditions in which mesenchymal cells isolated from the embryonic chicken limb bud differentiate into avian brown adipocyte-like cells (ABALCs) with the morphological and many of the biochemical properties of terminally differentiated brown adipocytes. Avian, and as we show here, lizard species lack the gene for UCP1, although it is present in amphibian and fish species. While ABALCs are therefore not functional brown adipocytes, they are generated by a developmental pathway virtually identical to brown fat differentiation in mammals: both the common adipogenic transcription factor peroxisome proliferator-activated receptor-γ (PPARγ), and a coactivator of that factor specific to brown fat differentiation in mammals, PGC1α, are elevated in expression, as are mitochondrial volume and DNA. Furthermore, ABALCs induction resulted in strong transcription from a transfected mouse UCP1 promoter. Conclusion These findings strongly suggest that the brown fat differentiation pathway evolved in a common ancestor of birds and mammals and its thermogenicity was lost in the avian lineage, with the degradation of UCP1, after it separated from the mammalian lineage. Since this event occurred no later than the saurian ancestor of birds and lizards, an implication of this is that dinosaurs had neither UCP1 nor canonically thermogenic brown fat. PMID:18426587

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.

37 NEW T-TYPE BROWN DWARFS IN THE CANADA-FRANCE BROWN DWARFS SURVEY

International Nuclear Information System (INIS)

Albert, Loic; Artigau, Etienne; Delorme, Philippe; Reyle, Celine; Forveille, Thierry; Delfosse, Xavier; Willott, Chris J.

2011-01-01

The Canada-France Brown Dwarfs Survey is an i'- and z'-band survey realized with MegaCam at the Canada-France-Hawaii Telescope that covers a surface area of 780 deg 2 . Image analysis is now completed while J-band follow-up campaigns are ∼90% done. The survey identified about 70 T dwarf candidates, of which 43 now have near-infrared spectra obtained with NIRI and GNIRS at Gemini and ISAAC at the Very Large Telescope. Six of these were previously published and we present here the 37 new discoveries, all T dwarfs. They range from T0 to T8.5 with four being of type T7 or later. Both newly identified T8 dwarfs are possibly high log (g) massive brown dwarfs of thin disk age. One T4.5 dwarf shows signs of sub-metallicity. We present proper motions and near-infrared photometry, and discuss about the most peculiar/interesting objects in some details.

Integrated Circuitry: Catharine Brown across Gender, Race, and Religion

Science.gov (United States)

Nelson, Joshua B.

2006-01-01

This article talks about a Cherokee woman named Catharine Brown who was converted to Christianity by missionaries, as well as historical and theoretical contexts regarding the Cherokee. The author presents views from critics, such as Theda Perdue, Carolyn Ross Johnston, and Arnold Krupat, on Catharine Brown's experiences across spheres such as…

Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.

Science.gov (United States)

Burkardt, Deepika D'Cunha; Rosenfeld, Jill A; Helgeson, Maria L; Angle, Brad; Banks, Valerie; Smith, Wendy E; Gripp, Karen W; Moline, Jessica; Moran, Rocio T; Niyazov, Dmitriy M; Stevens, Cathy A; Zackai, Elaine; Lebel, Robert Roger; Ashley, Douglas G; Kramer, Nancy; Lachman, Ralph S; Graham, John M

2011-06-01

Reports of individuals with deletions of 1q24→q25 share common features of prenatal onset growth deficiency, microcephaly, small hands and feet, dysmorphic face and severe cognitive deficits. We report nine individuals with 1q24q25 deletions, who show distinctive features of a clinically recognizable 1q24q25 microdeletion syndrome: prenatal-onset microcephaly and proportionate growth deficiency, severe cognitive disability, small hands and feet with distinctive brachydactyly, single transverse palmar flexion creases, fifth finger clinodactyly and distinctive facial features: upper eyelid fullness, small ears, short nose with bulbous nasal tip, tented upper lip, and micrognathia. Radiographs demonstrate disharmonic osseous maturation with markedly delayed bone age. Occasional features include cleft lip and/or palate, cryptorchidism, brain and spinal cord defects, and seizures. Using oligonucleotide-based array comparative genomic hybridization, we defined the critical deletion region as 1.9 Mb at 1q24.3q25.1 (chr1: 170,135,865-172,099,327, hg18 coordinates), containing 13 genes and including CENPL, which encodes centromeric protein L, a protein essential for proper kinetochore function and mitotic progression. The growth deficiency in this syndrome is similar to what is seen in other types of primordial short stature with microcephaly, such as Majewski osteodysplastic primordial dwarfism, type II (MOPD2) and Seckel syndrome, which result from loss-of-function mutations in genes coding for centrosomal proteins. DNM3 is also in the deleted region and expressed in the brain, where it participates in the Shank-Homer complex and increases synaptic strength. Therefore, DNM3 is a candidate for the cognitive disability, and CENPL is a candidate for growth deficiency in this 1q24q25 microdeletion syndrome. Copyright © 2011 Wiley-Liss, Inc.

A local-world node deleting evolving network model

International Nuclear Information System (INIS)

Gu Yuying; Sun Jitao

2008-01-01

A new type network growth rule which comprises node addition with the concept of local-world connectivity and node deleting is studied. A series of theoretical analysis and numerical simulation to the LWD network are conducted in this Letter. Firstly, the degree distribution p(k) of this network changes no longer pure scale free but truncates by an exponential tail and the truncation in p(k) increases as p a decreases. Secondly, the connectivity is tighter, as the local-world size M increases. Thirdly, the average path length L increases and the clustering coefficient decreases as generally node deleting increases. Finally, trends up when the local-world size M increases, so as to k max . Hence, the expanding local-world can compensate the infection of the node deleting

A local-world node deleting evolving network model

Energy Technology Data Exchange (ETDEWEB)

Gu Yuying [Department of Mathematics, Tongji University, Shanghai 200092 (China); Sun Jitao [Department of Mathematics, Tongji University, Shanghai 200092 (China)], E-mail: sunjt@sh163.net

2008-06-16

A new type network growth rule which comprises node addition with the concept of local-world connectivity and node deleting is studied. A series of theoretical analysis and numerical simulation to the LWD network are conducted in this Letter. Firstly, the degree distribution p(k) of this network changes no longer pure scale free but truncates by an exponential tail and the truncation in p(k) increases as p{sub a} decreases. Secondly, the connectivity is tighter, as the local-world size M increases. Thirdly, the average path length L increases and the clustering coefficient decreases as generally node deleting increases. Finally, trends up when the local-world size M increases, so as to k{sub max}. Hence, the expanding local-world can compensate the infection of the node deleting.

Deletion of Type I glutamine synthetase deregulates nitrogen metabolism and increases ethanol production in Clostridium thermocellum.

Science.gov (United States)

Rydzak, Thomas; Garcia, David; Stevenson, David M; Sladek, Margaret; Klingeman, Dawn M; Holwerda, Evert K; Amador-Noguez, Daniel; Brown, Steven D; Guss, Adam M

2017-05-01

Clostridium thermocellum rapidly deconstructs cellulose and ferments resulting hydrolysis products into ethanol and other products, and is thus a promising platform organism for the development of cellulosic biofuel production via consolidated bioprocessing. While recent metabolic engineering strategies have targeted eliminating canonical fermentation products (acetate, lactate, formate, and H 2 ), C. thermocellum also secretes amino acids, which has limited ethanol yields in engineered strains to approximately 70% of the theoretical maximum. To investigate approaches to decrease amino acid secretion, we attempted to reduce ammonium assimilation by deleting the Type I glutamine synthetase (glnA) in an essentially wild type strain of C. thermocellum. Deletion of glnA reduced levels of secreted valine and total amino acids by 53% and 44% respectively, and increased ethanol yields by 53%. RNA-seq analysis revealed that genes encoding the RNF-complex were more highly expressed in ΔglnA and may have a role in improving NADH-availability for ethanol production. While a significant up-regulation of genes involved in nitrogen assimilation and urea uptake suggested that deletion of glnA induces a nitrogen starvation response, metabolomic analysis showed an increase in intracellular glutamine levels indicative of nitrogen-rich conditions. We propose that deletion of glnA causes deregulation of nitrogen metabolism, leading to overexpression of nitrogen metabolism genes and, in turn, elevated glutamine levels. Here we demonstrate that perturbation of nitrogen assimilation is a promising strategy to redirect flux from the production of nitrogenous compounds toward biofuels in C. thermocellum. Copyright © 2017. Published by Elsevier Inc.

Brand deletion: How the decision-making approach affects deletion success

OpenAIRE

Víctor Temprano-García; Ana Isabel Rodríguez-Escudero; Javier Rodríguez-Pinto

2018-01-01

Literature on brand deletion (BD), a critical and topical decision within a firm's marketing strategy, is extremely scarce. The present research is concerned with the decision-making process and examines the effect on BD success of three different approaches to decision-making – rational, intuitive and political – and of the interaction between the rational and political approaches. The moderating effect of the type of BD – i.e., total brand killing or disposal vs. brand name change – is also...

Chandra Captures Flare From Brown Dwarf

Science.gov (United States)

2000-07-01

The first flare ever seen from a brown dwarf, or failed star, was detected by NASA's Chandra X-ray Observatory. The bright X-ray flare has implications for understanding the explosive activity and origin of magnetic fields of extremely low mass stars. Chandra detected no X-rays at all from LP 944-20 for the first nine hours of a twelve hour observation, then the source flared dramatically before it faded away over the next two hours. "We were shocked," said Dr. Robert Rutledge of the California Institute of Technology in Pasadena, the lead author on the discovery paper to appear in the July 20 issue of Astrophysical Journal Letters. "We didn't expect to see flaring from such a lightweight object. This is really the 'mouse that roared.'" Chandra LP 944-20 X-ray Image Press Image and Caption The energy emitted in the brown dwarf flare was comparable to a small solar flare, and was a billion times greater than observed X-ray flares from Jupiter. The flaring energy is believed to come from a twisted magnetic field. "This is the strongest evidence yet that brown dwarfs and possibly young giant planets have magnetic fields, and that a large amount of energy can be released in a flare," said Dr. Eduardo Martin, also of Caltech and a member of the team. Professor Gibor Basri of the University of California, Berkeley, the principal investigator for this observation, speculated that the flare "could have its origin in the turbulent magnetized hot material beneath the surface of the brown dwarf. A sub-surface flare could heat the atmosphere, allowing currents to flow and give rise to the X-ray flare -- like a stroke of lightning." LP 944-20 is about 500 million years old and has a mass that is about 60 times that of Jupiter, or 6 percent that of the Sun. Its diameter is about one-tenth that of the Sun and it has a rotation period of less than five hours. Located in the constellation Fornax in the southern skies, LP 944-20 is one of the best studied brown dwarfs because it is

Dual entanglement measures based on no local cloning and no local deleting

International Nuclear Information System (INIS)

Horodecki, Michal; Sen, Aditi; Sen, Ujjwal

2004-01-01

The impossibility of cloning and deleting of unknown states constitute important restrictions on processing of information in the quantum world. On the other hand, a known quantum state can always be cloned or deleted. However, if we restrict the class of allowed operations, there will arise restrictions on the ability of cloning and deleting machines. We have shown that cloning and deleting of known states is in general not possible by local operations. This impossibility hints at quantum correlation in the state. We propose dual measures of quantum correlation based on the dual restrictions of no local cloning and no local deleting. The measures are relative entropy distances of the desired states in a (generally impossible) perfect local cloning or local deleting process from the best approximate state that is actually obtained by imperfect local cloning or deleting machines. Just like the dual measures of entanglement cost and distillable entanglement, the proposed measures are based on important processes in quantum information. We discuss their properties. For the case of pure states, estimations of these two measures are also provided. Interestingly, the entanglement of cloning for a maximally entangled state of two two-level systems is not unity

24 CFR 990.155 - Addition and deletion of units.

Science.gov (United States)

2010-04-01

... 24 Housing and Urban Development 4 2010-04-01 2010-04-01 false Addition and deletion of units. 990.155 Section 990.155 Housing and Urban Development Regulations Relating to Housing and Urban...; Computation of Eligible Unit Months § 990.155 Addition and deletion of units. (a) Changes in public housing...

Discrimination of Deletion and Duplication Subtypes of the Deleted in Azoospermia Gene Family in the Context of Frequent Interloci Gene Conversion

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Vaszkó, Tibor; Papp, János; Krausz, Csilla; Casamonti, Elena; Géczi, Lajos; Olah, Edith

2016-01-01

Due to its palindromic setup, AZFc (Azoospermia Factor c) region of chromosome Y is one of the most unstable regions of the human genome. It contains eight gene families expressed mainly in the testes. Several types of rearrangement resulting in changes in the cumulative copy number of the gene families were reported to be associated with diseases such as male infertility and testicular germ cell tumors. The best studied AZFc rearrangement is gr/gr deletion. Its carriers show widespread phenotypic variation from azoospermia to normospermia. This phenomenon was initially attributed to different gr/gr subtypes that would eliminate distinct members of the affected gene families. However, studies conducted to confirm this hypothesis have brought controversial results, perhaps, in part, due to the shortcomings of the utilized subtyping methodology. This proof-of-concept paper is meant to introduce here a novel method aimed at subtyping AZFc rearrangements. It is able to differentiate the partial deletion and partial duplication subtypes of the Deleted in Azoospermia (DAZ) gene family. The keystone of the method is the determination of the copy number of the gene family member-specific variant(s) in a series of sequence family variant (SFV) positions. Most importantly, we present a novel approach for the correct interpretation of the variant copy number data to determine the copy number of the individual DAZ family members in the context of frequent interloci gene conversion.Besides DAZ1/DAZ2 and DAZ3/DAZ4 deletions, not yet described rearrangements such as DAZ2/DAZ4 deletion and three duplication subtypes were also found by the utilization of the novel approach. A striking feature is the extremely high concordance among the individual data pointing to a certain type of rearrangement. In addition to being able to identify DAZ deletion subtypes more reliably than the methods used previously, this approach is the first that can discriminate DAZ duplication subtypes as well

Systemic control of brown fat thermogenesis: integration of peripheral and central signals.

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Schulz, Tim J; Tseng, Yu-Hua

2013-10-01

Brown adipose tissue (BAT) is of great scientific interest as a potential target to treat obesity. The development of novel strategies to quantify brown fat thermogenesis in adult humans now enables minimally invasive assessment of novel pharmacotherapeutics. Input from the central nervous system via sympathetic efferents is widely regarded as the key controller of BAT-mediated thermogenesis in response to changes in body temperature or nutrient availability. More recently, however, it has become clear that locally secreted signals and endocrine factors originating from multiple organs can control the recruitment of brown adipocytes and, more importantly, induce thermogenesis in brown fat. Thus, they provide an attractive strategy to fine-tune brown fat thermogenesis independent of classical temperature sensing. Here, we summarize recent findings on bone morphogenetic protein signaling as an example of secreted factors in the regulation of brown adipocyte formation and systemic control of energy metabolism. We further highlight endocrine communication routes between the different types of brown adipocytes and other organs that contribute to regulation of thermogenesis. Thus, emerging evidence suggests that the classical mechanisms of central temperature sensing and sympathetic nervous system-driven thermogenesis are complemented by local and endocrine signals to determine systemic energy homeostasis. © 2013 New York Academy of Sciences.

Improvement Effect of Dewaxed Brown Rice on Constipation in Antibiotic-treated Mice.

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Inagawa, Hiroyuki; Saika, Toshiyuki; Nishiyama, Naoki; Nisizawa, Takashi; Kohchi, Chie; Uenobe, Maya; Soma, Gen-Ichiro

2017-01-01

A decrease in gastrointestinal motility causing weakened lipopolysaccharide (LPS) - toll-like receptor (TLR)4 signaling along with a decline in the number of enteric bacteria is known to be a cause of constipation due to the administration of antibiotics. A new type of brown rice with its wax layer removed, resulting in quick-cooking and tasty product, contains 100-times more LPS than polished white rice. In this study, the improvement effect on constipation due to intake of dewaxed brown rice was examined. Dewaxed brown rice was prepared at Toyo Rice from brown rice. Mice were given powdered feed to which powdered rice containing 0-50% of dewaxed brown rice was added. Antibiotics were administered for 10 or 27 days in drinking water containing vancomycin, metronidazole and neomycin. LPS, used as a control, was freely provided in drinking water. The defecation frequency, stool weight per hour and body weight were determined on the last day. Although the 10-day administration of antibiotics reduced the stool weight per hour to half, the dewaxed brown rice and LPS groups showed a trend towards improvement at a level comparable to the group receiving no antibiotics. The body weight significantly decreased after the 27-day administration of antibiotics but was improved in the 50% dewaxed brown rice group at a level comparable to the group receiving no antibiotics. Though the defecation frequency and wet and dry stool weights per hour were reduced by as much as 50% in the group receiving antibiotics, a significant improvement in constipation was observed in the 50% dewaxed brown rice group. As the improvement effect of dewaxed brown rice on body weight loss and constipation caused by the long-term administration of antibiotics has been confirmed in animal experimentation, the introduction of dewaxed brown rice as a staple food to patients under long-term antibiotic treatment may improve constipation. Copyright© 2017, International Institute of Anticancer Research (Dr

Improvement Effect of Dewaxed Brown Rice on Constipation in Antibiotic-treated Mice

Science.gov (United States)

INAGAWA, HIROYUKI; SAIKA, TOSHIYUKI; NISHIYAMA, NAOKI; NISIZAWA, TAKASHI; KOHCHI, CHIE; UENOBE, MAYA; SOMA, GEN-ICHIRO

2017-01-01

Background/Aim: A decrease in gastrointestinal motility causing weakened lipopolysaccharide (LPS) – toll-like receptor (TLR)4 signaling along with a decline in the number of enteric bacteria is known to be a cause of constipation due to the administration of antibiotics. A new type of brown rice with its wax layer removed, resulting in quick-cooking and tasty product, contains 100-times more LPS than polished white rice. In this study, the improvement effect on constipation due to intake of dewaxed brown rice was examined. Materials and Methods: Dewaxed brown rice was prepared at Toyo Rice from brown rice. Mice were given powdered feed to which powdered rice containing 0-50% of dewaxed brown rice was added. Antibiotics were administered for 10 or 27 days in drinking water containing vancomycin, metronidazole and neomycin. LPS, used as a control, was freely provided in drinking water. The defecation frequency, stool weight per hour and body weight were determined on the last day. Results: Although the 10-day administration of antibiotics reduced the stool weight per hour to half, the dewaxed brown rice and LPS groups showed a trend towards improvement at a level comparable to the group receiving no antibiotics. The body weight significantly decreased after the 27-day administration of antibiotics but was improved in the 50% dewaxed brown rice group at a level comparable to the group receiving no antibiotics. Though the defecation frequency and wet and dry stool weights per hour were reduced by as much as 50% in the group receiving antibiotics, a significant improvement in constipation was observed in the 50% dewaxed brown rice group. Conclusion: As the improvement effect of dewaxed brown rice on body weight loss and constipation caused by the long-term administration of antibiotics has been confirmed in animal experimentation, the introduction of dewaxed brown rice as a staple food to patients under long-term antibiotic treatment may improve constipation. PMID

Management of brown bears (Ursus arctos) in Europe.

OpenAIRE

Klenzendorf, Sybille A.

1997-01-01

Management of Brown Bears (Ursus arctos) in Europe. Sybille A. Klenzendorf (Abstract) Successful conservation of brown bears (Ursus arctos) in Europe is associated with public acceptance of damages caused by bears. Recent increases in sheep depredation and beehive damage in central Austria resulted in the deaths of two bears there. Since bear numbers are low in most European populations, alternatives to the elimination of problem bears associated with dam...

Highly Viscous States Affect the Browning of Atmospheric Organic Particulate Matter.

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Liu, Pengfei; Li, Yong Jie; Wang, Yan; Bateman, Adam P; Zhang, Yue; Gong, Zhaoheng; Bertram, Allan K; Martin, Scot T

2018-02-28

Initially transparent organic particulate matter (PM) can become shades of light-absorbing brown via atmospheric particle-phase chemical reactions. The production of nitrogen-containing compounds is one important pathway for browning. Semisolid or solid physical states of organic PM might, however, have sufficiently slow diffusion of reactant molecules to inhibit browning reactions. Herein, organic PM of secondary organic material (SOM) derived from toluene, a common SOM precursor in anthropogenically affected environments, was exposed to ammonia at different values of relative humidity (RH). The production of light-absorbing organonitrogen imines from ammonia exposure, detected by mass spectrometry and ultraviolet-visible spectrophotometry, was kinetically inhibited for RH atmospheric brown carbon production and associated influences on energy balance.

Chewing lice Trichodectes pinguis pinguis in Scandinavian brown bears (Ursus arctos

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Núria Fandos Esteruelas

2016-08-01

Full Text Available In April 2014 and 2015, we noted localized alopecia (neck, forelimbs, and chest and hyperpigmentation on two adult brown bears (Ursus arctos captured in central-south Sweden for ecological studies under the Scandinavian Brown Bear Research Project. In spring 2015, a brown bear was shot because of human-wildlife conflict in the same region. This bear also had extensive alopecia and hyperpigmentation. Ectoparasites were collected from the affected skin areas in all three individuals and preserved in ethanol for identification. Based on morphological characteristics, the lice were identified as Trichodectes spp. and Trichodectes pinguis pinguis. To our knowledge, these are the first reported cases of chewing lice in free-ranging brown bears in Scandinavia.

Effects of exogenous salinity (NaCl) gradient on Cd release in acidified contaminated brown soil

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Zhang, Lina; Rong, Yong; Mao, Li; Gao, Zhiyuan; Liu, Xiaoyu; Dong, Zhicheng

2018-02-01

Taking acidified Cd contaminated brown soil in Yantai as the research object, based on different exogenous salinity (NaCl) gradient (0%, 0.3%, 0.6%, 0.9%, 1.5%, 2% and 5%), indoor simulation experiments of Cd release were carried out after field investigation. Results showed that there was a significantly positive relation (r>0.90) between Cd release concentration/amount/ratio and exogenous salt (NaCl). Besides, the more exogenous salt (NaCl) was added; maximum release concentration/amount of Cd appeared the earlier. It was found that exogenous salt (NaCl) addition could obviously promote Cd release from acidified Cd contaminated brown soil. It was believed that this could be mainly due to the cation exchange between Cd2+ and Na+, together with the dissociation and/or complexation between Cl- and Cd2+. In addition, available adsorption sites reduction by exchange base in soil causing Cd changed from solid state to soil solution was also a probable reason.

Brown dwarf accretion: Nonconventional star formation over very long timescales

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Ćirković Milan M.

2005-01-01

Full Text Available We investigate the process of accretion of interstellar gas by the Galactic population of brown dwarfs over very long timescales typical for physical eschatology. In particular, we use the classical Hoyle-Lyttleton-Bondi accretion model to investigate the rate at which brown dwarfs collect enough additional mass to become red dwarfs, accretion-induced changes in the mass function of the low- mass objects, and the corresponding accretion heating of brown dwarfs. In addition, we show how we can make the definition of the final mass function for stellar objects more precise.

Chemical and enzymatic fractionation of cell walls from Fucales: insights into the structure of the extracellular matrix of brown algae.

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Deniaud-Bouët, Estelle; Kervarec, Nelly; Michel, Gurvan; Tonon, Thierry; Kloareg, Bernard; Hervé, Cécile

2014-10-01

Brown algae are photosynthetic multicellular marine organisms evolutionarily distant from land plants, with a distinctive cell wall. They feature carbohydrates shared with plants (cellulose), animals (fucose-containing sulfated polysaccharides, FCSPs) or bacteria (alginates). How these components are organized into a three-dimensional extracellular matrix (ECM) still remains unclear. Recent molecular analysis of the corresponding biosynthetic routes points toward a complex evolutionary history that shaped the ECM structure in brown algae. Exhaustive sequential extractions and composition analyses of cell wall material from various brown algae of the order Fucales were performed. Dedicated enzymatic degradations were used to release and identify cell wall partners. This approach was complemented by systematic chromatographic analysis to study polymer interlinks further. An additional structural assessment of the sulfated fucan extracted from Himanthalia elongata was made. The data indicate that FCSPs are tightly associated with proteins and cellulose within the walls. Alginates are associated with most phenolic compounds. The sulfated fucans from H. elongata were shown to have a regular α-(1→3) backbone structure, while an alternating α-(1→3), (1→4) structure has been described in some brown algae from the order Fucales. The data provide a global snapshot of the cell wall architecture in brown algae, and contribute to the understanding of the structure-function relationships of the main cell wall components. Enzymatic cross-linking of alginates by phenols may regulate the strengthening of the wall, and sulfated polysaccharides may play a key role in the adaptation to osmotic stress. The emergence and evolution of ECM components is further discussed in relation to the evolution of multicellularity in brown algae. © The Author 2014. Published by Oxford University Press on behalf of the Annals of Botany Company. All rights reserved. For Permissions, please

Ear-body lift and a novel thrust generating mechanism revealed by the complex wake of brown long-eared bats (Plecotus auritus)

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Johansson, L. Christoffer; Håkansson, Jonas; Jakobsen, Lasse; Hedenström, Anders

2016-04-01

Large ears enhance perception of echolocation and prey generated sounds in bats. However, external ears likely impair aerodynamic performance of bats compared to birds. But large ears may generate lift on their own, mitigating the negative effects. We studied flying brown long-eared bats, using high resolution, time resolved particle image velocimetry, to determine the aerodynamics of flying with large ears. We show that the ears and body generate lift at medium to cruising speeds (3-5 m/s), but at the cost of an interaction with the wing root vortices, likely reducing inner wing performance. We also propose that the bats use a novel wing pitch mechanism at the end of the upstroke generating thrust at low speeds, which should provide effective pitch and yaw control. In addition, the wing tip vortices show a distinct spiraling pattern. The tip vortex of the previous wingbeat remains into the next wingbeat and rotates together with a newly formed tip vortex. Several smaller vortices, related to changes in circulation around the wing also spiral the tip vortex. Our results thus show a new level of complexity in bat wakes and suggest large eared bats are less aerodynamically limited than previous wake studies have suggested.

Degradation of brown adipocyte purine nucleotides regulates uncoupling protein 1 activity

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Tobias Fromme

2018-02-01

Full Text Available Objective: Non-shivering thermogenesis in mammalian brown adipose tissue depends on thermogenic uncoupling protein 1. Its activity is triggered by free fatty acids while purine nucleotides mediate inhibition. During activation, it is thought that free fatty acids overcome purine-mediated inhibition. We measured the cellular concentration and the release of purine nucleotide metabolites to uncover a possible role of purine nucleotide degradation in uncoupling protein 1 activation. Methods: With mass spectrometry, purine nucleotide metabolites were quantified in cellular homogenates and supernatants of cultured primary brown adipocytes. We also determined oxygen consumption in response to a β-adrenergic agonist. Results: Upon adrenergic activation, brown adipocytes decreased the intracellular concentration of inhibitory nucleotides (ATP, ADP, GTP and GDP and released the respective degradation products. At the same time, an increase in cellular calcium occurred. None of these phenomena occurred in white adipocytes or myotubes. The brown adipocyte expression of enzymes implicated in purine metabolic remodeling is altered upon cold exposure. Pharmacological and genetic interference of purine metabolism altered uncoupling protein 1 mediated uncoupled respiration. Conclusion: Adrenergic stimulation of brown adipocytes lowers the intracellular concentration of purine nucleotides, thereby contributing to uncoupling protein 1 activation. Keywords: Purine nucleotides, Uncoupling protein 1, Brown adipose tissue, Non-shivering thermogenesis, HILIC-MS/MS, Guanosine monophosphate reductase

Intravitreally Injected Anti-VEGF Antibody Reduces Brown Fat in Neonatal Mice.

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Jo, Dong Hyun; Park, Sung Wook; Cho, Chang Sik; Powner, Michael B; Kim, Jin Hyoung; Fruttiger, Marcus; Kim, Jeong Hun

2015-01-01

Anti-vascular endothelial growth factor (VEGF) agents are the mainstay treatment for various angiogenesis-related retinal diseases. Currently, bevacizumab, a recombinant humanized anti-VEGF antibody, is trailed in retinopathy of prematurity, a vasoproliferative retinal disorder in premature infants. However, the risks of systemic complications after intravitreal injection of anti-VEGF antibody in infants are not well understood. In this study, we show that intravitreally injected anti-VEGF antibody is transported into the systemic circulation into the periphery where it reduces brown fat in neonatal C57BL/6 mice. A considerable amount of anti-VEGF antibody was detected in serum after intravitreal injection. Furthermore, in interscapular brown adipose tissue, we found lipid droplet accumulation, decreased VEGF levels, loss of vascular network, and decreased expression of mitochondria-related genes, Ppargc1a and Ucp1, all of which are characteristics of "whitening" of brown fat. With increasing age and body weight, brown fat restored its morphology and vascularity. Our results show that there is a transient, but significant impact of intravitreally administered anti-VEGF antibody on brown adipose tissue in neonatal mice. We suggest that more attention should be focused on the metabolic and developmental significance of brown adipose tissue in bevacizumab treated retinopathy of prematurity infants.

Intravitreally Injected Anti-VEGF Antibody Reduces Brown Fat in Neonatal Mice.

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Dong Hyun Jo

Full Text Available Anti-vascular endothelial growth factor (VEGF agents are the mainstay treatment for various angiogenesis-related retinal diseases. Currently, bevacizumab, a recombinant humanized anti-VEGF antibody, is trailed in retinopathy of prematurity, a vasoproliferative retinal disorder in premature infants. However, the risks of systemic complications after intravitreal injection of anti-VEGF antibody in infants are not well understood. In this study, we show that intravitreally injected anti-VEGF antibody is transported into the systemic circulation into the periphery where it reduces brown fat in neonatal C57BL/6 mice. A considerable amount of anti-VEGF antibody was detected in serum after intravitreal injection. Furthermore, in interscapular brown adipose tissue, we found lipid droplet accumulation, decreased VEGF levels, loss of vascular network, and decreased expression of mitochondria-related genes, Ppargc1a and Ucp1, all of which are characteristics of "whitening" of brown fat. With increasing age and body weight, brown fat restored its morphology and vascularity. Our results show that there is a transient, but significant impact of intravitreally administered anti-VEGF antibody on brown adipose tissue in neonatal mice. We suggest that more attention should be focused on the metabolic and developmental significance of brown adipose tissue in bevacizumab treated retinopathy of prematurity infants.

Sequence characterisation of deletion breakpoints in the dystrophin gene by PCR

Energy Technology Data Exchange (ETDEWEB)

Abbs, S.; Sandhu, S.; Bobrow, M. [Guy`s Hospital, London (United Kingdom)

1994-09-01

Partial deletions of the dystrophin gene account for 65% of cases of Duchenne muscular dystrophy. A high proportion of these structural changes are generated by new mutational events, and lie predominantly within two `hotspot` regions, yet the underlying reasons for this are not known. We are characterizing and sequencing the regions surrounding deletion breakpoints in order to: (i) investigate the mechanisms of deletion mutation, and (ii) enable the design of PCR assays to specifically amplify mutant and normal sequences, allowing us to search for the presence of somatic mosaicism in appropriate family members. Using this approach we have been able to demonstrate the presence of somatic mosaicism in a maternal grandfather of a DMD-affected male, deleted for exons 49-50. Three deletions, namely of exons 48-49, 49-50, and 50, have been characterized using a PCR approach that avoids any cloning procedures. Breakpoints were initially localized to within regions of a few kilobases using Southern blot restriction analyses with exon-specific probes and PCR amplification of exonic and intronic loci. Sequencing was performed directly on PCR products: (i) mutant sequences were obtained from long-range or inverse-PCR across the deletion junction fragments, and (ii) normal sequences were obtained from the products of standard PCR, vectorette PCR, or inverse-PCR performed on YACs. Further characterization of intronic sequences will allow us to amplify and sequence across other deletion breakpoints and increase our knowledge of the mechanisms of mutation in the dystophin gene.

Thorough analysis of unorthodox ABO deletions called by the 1000 Genomes project.

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Möller, M; Hellberg, Å; Olsson, M L

2018-02-01

ABO remains the clinically most important blood group system, but despite earlier extensive research, significant findings are still being made. The vast majority of catalogued ABO null alleles are based on the c.261delG polymorphism. Apart from c.802G>A, other mechanisms for O alleles are rare. While analysing the data set from the 1000 Genomes (1000G) project, we encountered two previously uncharacterized deletions, which needed further exploration. The Erythrogene database, complemented with bioinformatics software, was used to analyse ABO in 2504 individuals from 1000G. DNA samples from selected 1000G donors and African blood donors were examined by allele-specific PCR and Sanger sequencing to characterize predicted deletions. A 5821-bp deletion encompassing exons 5-7 was called in twenty 1000G individuals, predominantly Africans. This allele was confirmed and its exact deletion point defined by bioinformatic analyses and in vitro experiments. A PCR assay was developed, and screening of African samples revealed three donors heterozygous for this deletion, which was thereby phenotypically established as an O allele. Analysis of upstream genetic markers indicated an ancestral origin from ABO*O.01.02. We estimate this deletion as the 3rd most common mechanism behind O alleles. A 24-bp deletion was called in nine individuals and showed greater diversity regarding ethnic distribution and allelic background. It could neither be confirmed by in silico nor in vitro experiments. A previously uncharacterized ABO deletion among Africans was comprehensively mapped and a genotyping strategy devised. The false prediction of another deletion emphasizes the need for cautious interpretation of NGS data and calls for strict validation routines. © 2017 International Society of Blood Transfusion.

Fuel briquettes from brown coals of Yakutia

Energy Technology Data Exchange (ETDEWEB)

L.A. Nikolaeva; V.G. Latyshev; O.N. Burenina [Russian Academy of Sciences, Yakutsk (Russian Federation). Institute of Oil and Gas Problems

2009-04-15

Experimental data on the development of technology for the manufacture of briquetted fuel from brown coals with the use of various petroleum binders are presented. The influence of the moisture content, the coal particle-size composition, the binder type and concentration, the compacting pressure, and heat treatment regimes on the mechanical properties of the materials was studied. The optimal compositions and optimal values of the engineering parameters for the production of graded briquetted fuel from brown coals of the Kangalassy deposit in the Republic of Sakha (Yakutia) were established.

Brown dwarfs in retrogradely precessing cataclysmic variables?

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Martin E.L.

2011-07-01

Full Text Available We compare Smoothed Particle Hydrodynamic simulations of retrogradely precessing accretion disks that have a white dwarf primary and a main sequence secondary with observational data and with theory on retrograde precession via tidal torques like those by the Moon and the Sun on the Earth [1, 2]. Assuming the primary does not accrete much of the mass lost from the secondary, we identify the theoretical low mass star/brown dwarf boundary. We find no observational candidates in our study that could qualify as brown dwarfs.

Complexes of vanadium (V) oxotrichloride with amides and tertiary amines

International Nuclear Information System (INIS)

Paul, R.C.; Sharma, N.C.; Sahi, Y.P.; Chadha, S.L.; Sharma, A.K.

1975-01-01

Vanadium(V) oxotrichloride forms dark brown hygroscopic solid complexes of the composition VOCl 3 .3B and VOCl 3 .2B' where B represents pyridine, α-, β-, and γ-picolines, quinoline, isoquinoline, urea, N-methylformamide or acetanilide while B' represents N, N'-dimethylformamide, N-methylacetamide or dimethylacetamide. These complexes have been characterized on the basis of their analytical and IR spectral data. (author)

TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities

Science.gov (United States)

Wiszniewski, Wojciech; Hunter, Jill V.; Hanchard, Neil A.; Willer, Jason R.; Shaw, Chad; Tian, Qi; Illner, Anna; Wang, Xueqing; Cheung, Sau W.; Patel, Ankita; Campbell, Ian M.; Gelowani, Violet; Hixson, Patricia; Ester, Audrey R.; Azamian, Mahshid S.; Potocki, Lorraine; Zapata, Gladys; Hernandez, Patricia P.; Ramocki, Melissa B.; Santos-Cortez, Regie L.P.; Wang, Gao; York, Michele K.; Justice, Monica J.; Chu, Zili D.; Bader, Patricia I.; Omo-Griffith, Lisa; Madduri, Nirupama S.; Scharer, Gunter; Crawford, Heather P.; Yanatatsaneejit, Pattamawadee; Eifert, Anna; Kerr, Jeffery; Bacino, Carlos A.; Franklin, Adiaha I.A.; Goin-Kochel, Robin P.; Simpson, Gayle; Immken, Ladonna; Haque, Muhammad E.; Stosic, Marija; Williams, Misti D.; Morgan, Thomas M.; Pruthi, Sumit; Omary, Reed; Boyadjiev, Simeon A.; Win, Kay K.; Thida, Aye; Hurles, Matthew; Hibberd, Martin Lloyd; Khor, Chiea Chuen; Van Vinh Chau, Nguyen; Gallagher, Thomas E.; Mutirangura, Apiwat; Stankiewicz, Pawel; Beaudet, Arthur L.; Maletic-Savatic, Mirjana; Rosenfeld, Jill A.; Shaffer, Lisa G.; Davis, Erica E.; Belmont, John W.; Dunstan, Sarah; Simmons, Cameron P.; Bonnen, Penelope E.; Leal, Suzanne M.; Katsanis, Nicholas; Lupski, James R.; Lalani, Seema R.

2013-01-01

White matter hyperintensities (WMHs) of the brain are important markers of aging and small-vessel disease. WMHs are rare in healthy children and, when observed, often occur with comorbid neuroinflammatory or vasculitic processes. Here, we describe a complex 4 kb deletion in 2q36.3 that segregates with early childhood communication disorders and WMH in 15 unrelated families predominantly from Southeast Asia. The premature brain aging phenotype with punctate and multifocal WMHs was observed in ∼70% of young carrier parents who underwent brain MRI. The complex deletion removes the penultimate exon 3 of TM4SF20, a gene encoding a transmembrane protein of unknown function. Minigene analysis showed that the resultant net loss of an exon introduces a premature stop codon, which, in turn, leads to the generation of a stable protein that fails to target to the plasma membrane and accumulates in the cytoplasm. Finally, we report this deletion to be enriched in individuals of Vietnamese Kinh descent, with an allele frequency of about 1%, embedded in an ancestral haplotype. Our data point to a constellation of early language delay and WMH phenotypes, driven by a likely toxic mechanism of TM4SF20 truncation, and highlight the importance of understanding and managing population-specific low-frequency pathogenic alleles. PMID:23810381

Do mtDNA Deletions Play a Role in the Development of Nasal Polyposis?

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Arzu Tatar

2014-04-01

Full Text Available Objective:Nasal polyposis (NP is an inflammatory disease of the nasal mucosa and paranasal sinuses. Mitochondria are the cellular organelles which produce cellular energy by Oxidative Phosphorylation (OXPHOS, and they have own inheritance material, mtDNA. mtDNA is affected by reactive oxygen samples (ROS which are produced by both OXPHOS and the inflammatory process. The aim of this study was to investigate the 4977 bp and 7400 bp deletions of mtDNA in nasal polyposis tissue, and to indicate the possible association of mtDNA deletions with NP. Methods:Thirty-three patients, aged 15 to 65 years, with nasal polyposis were selected to be assessed for mitochondrial DNA deletions. The patients with possible mtDNA mutations due to mitochondrial disease, being treated with radiotherapy, of advanced age, with a familiar history, aspirin hypersensitivity, or a history of asthma, were excluded. Polyp excision surgery was applied to the treatment of the NP, and after histopathological diagnosis 1x1 cm of polyp tissue samples were used to isolate mtDNA. The 4977 bp and 7400 bp deletion regions, and two control regions of mtDNA were assessed by using four pairs of primers. DNA extractions from the NP tissues and peripheral blood samples of the patients were made, and then Polymerase Chain Reactions (PCR were made. PCR products were separated in 2% agarose gel.Results:No patient had either the 4977 bp deletion or the 7400 bp deletion in their NP tissue, and neither were these deletions evident in their peripheral blood. Two control sequences, one of them from a non-deleted region, and the other from a possible deletion region, were detected in the NP tissues and peripheral blood of all the patients.Conclusions:We had anticipated that some mtDNA deletion might have occurred in NP tissue due to the increased ROS levels caused by chronic inflammation, but we did not detect any deletion. Probably, the duration of inflammation in NP is insufficient to form mt

Oncolytic Replication of E1b-Deleted Adenoviruses

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Pei-Hsin Cheng

2015-11-01

Full Text Available Various viruses have been studied and developed for oncolytic virotherapies. In virotherapy, a relatively small amount of viruses used in an intratumoral injection preferentially replicate in and lyse cancer cells, leading to the release of amplified viral particles that spread the infection to the surrounding tumor cells and reduce the tumor mass. Adenoviruses (Ads are most commonly used for oncolytic virotherapy due to their infection efficacy, high titer production, safety, easy genetic modification, and well-studied replication characteristics. Ads with deletion of E1b55K preferentially replicate in and destroy cancer cells and have been used in multiple clinical trials. H101, one of the E1b55K-deleted Ads, has been used for the treatment of late-stage cancers as the first approved virotherapy agent. However, the mechanism of selective replication of E1b-deleted Ads in cancer cells is still not well characterized. This review will focus on three potential molecular mechanisms of oncolytic replication of E1b55K-deleted Ads. These mechanisms are based upon the functions of the viral E1B55K protein that are associated with p53 inhibition, late viralmRNAexport, and cell cycle disruption.

Cellulose Degradation by Cellulose-Clearing and Non-Cellulose-Clearing Brown-Rot Fungi

OpenAIRE

Highley, Terry L.

1980-01-01

Cellulose degradation by four cellulose-clearing brown-rot fungi in the Coniophoraceae—Coniophora prasinoides, C. puteana, Leucogyrophana arizonica, and L. olivascens—is compared with that of a non-cellulose-clearing brown-rot fungus, Poria placenta. The cellulose- and the non-cellulose-clearing brown-rot fungi apparently employ similar mechanisms to depolymerize cellulose; most likely a nonenzymatic mechanism is involved.

The male gametophytic sterility. 1 - Gametic sterilities and deletions in petunia

International Nuclear Information System (INIS)

Cornu, A.; Maizonnier, D.

1982-01-01

Terminal deletions induced by ionizing radiations in Petunia are not sexually transmitted. Cytogenetic study of plants with a heterozygous deletion and their progenies shows that this lack of transmission is accompanied by a gametic semi-sterility due to the fact that gametes carrying the deleted chromosome are not viable. The interest of such a male sterility with a gametophytic determinism for the study of sporophyte-gametophyte relationships is underlined [fr

ABCA7 frameshift deletion associated with Alzheimer disease in African Americans

Science.gov (United States)

Cukier, Holly N.; Kunkle, Brian W.; Vardarajan, Badri N.; Rolati, Sophie; Hamilton-Nelson, Kara L.; Kohli, Martin A.; Whitehead, Patrice L.; Dombroski, Beth A.; Van Booven, Derek; Lang, Rosalyn; Dykxhoorn, Derek M.; Farrer, Lindsay A.; Cuccaro, Michael L.; Vance, Jeffery M.; Gilbert, John R.; Beecham, Gary W.; Martin, Eden R.; Carney, Regina M.; Mayeux, Richard; Schellenberg, Gerard D.; Byrd, Goldie S.; Haines, Jonathan L.

2016-01-01

Objective: To identify a causative variant(s) that may contribute to Alzheimer disease (AD) in African Americans (AA) in the ATP-binding cassette, subfamily A (ABC1), member 7 (ABCA7) gene, a known risk factor for late-onset AD. Methods: Custom capture sequencing was performed on ∼150 kb encompassing ABCA7 in 40 AA cases and 37 AA controls carrying the AA risk allele (rs115550680). Association testing was performed for an ABCA7 deletion identified in large AA data sets (discovery n = 1,068; replication n = 1,749) and whole exome sequencing of Caribbean Hispanic (CH) AD families. Results: A 44-base pair deletion (rs142076058) was identified in all 77 risk genotype carriers, which shows that the deletion is in high linkage disequilibrium with the risk allele. The deletion was assessed in a large data set (531 cases and 527 controls) and, after adjustments for age, sex, and APOE status, was significantly associated with disease (p = 0.0002, odds ratio [OR] = 2.13 [95% confidence interval (CI): 1.42–3.20]). An independent data set replicated the association (447 cases and 880 controls, p = 0.0117, OR = 1.65 [95% CI: 1.12–2.44]), and joint analysis increased the significance (p = 1.414 × 10−5, OR = 1.81 [95% CI: 1.38–2.37]). The deletion is common in AA cases (15.2%) and AA controls (9.74%), but in only 0.12% of our non-Hispanic white cohort. Whole exome sequencing of multiplex, CH families identified the deletion cosegregating with disease in a large sibship. The deleted allele produces a stable, detectable RNA strand and is predicted to result in a frameshift mutation (p.Arg578Alafs) that could interfere with protein function. Conclusions: This common ABCA7 deletion could represent an ethnic-specific pathogenic alteration in AD. PMID:27231719

Chromosome breakage in Prader-Willi and Angelman syndrome deletions may involve recombination between a repeat at the proximal and distal breakpoints

Energy Technology Data Exchange (ETDEWEB)

Amos-Landgraf J.; Nicholls, R.D. [Case Western Reserve Univ., Cleveland, OH (United States); Gottlieb, W. [Univ. of Florida, Gainesville, FL (United States)] [and others

1994-09-01

Prader-Willi (PWS) and Angelman (AS) syndromes most commonly arise from large deletions of 15q11-q13. Deletions in PWS are paternal in origin, while those in AS are maternal in origin, clearly demonstrating genomic imprinting in these clinically distinct neurobehavioural disorders. In at least 90% of PWS and AS deletion patients, the same 4 Mb region within 15q11-q13 is deleted with breakpoints clustering in single YAC clones at the proximal and distal ends. To study the mechanism of chromosome breakage in PWS and AS, we have previously isolated 25 independent clones from these three YACs using Alu-vector PCR. Four clones were selected that appear to detect a low copy repeat that is located in the proximal and distal breakpoint regions of chromosome 15q11-q13. Three clones detect the same 4 HindIII bands in genomic DNA, all from 15q11-q13, with differing intensities for the probes located at the proximal or distal breakpoints region, respectively. This suggests that these probes detect related members of a low-copy repeat at either location. Moreover, the 254RL2 probe detects a novel HindIII band in two unrelated PWS deletion patients, suggesting that this may represent a breakpoint fragment, with recombination occurring within a similar interval in both patients. A fourth clone, 318RL3 detects 5 bands in HindIII-digested genomic DNA, all from 15q11-q13. This YAC endclone itself is not deleted in PWS and AS deletion patients, as seen by an invariant strong band. Two other strong bands are variably intact or deleted in different PWS or AS deletion patients, suggesting a relationship of this sequence to the breakpoints. Moreover, PCR using 318RL3 primers from the distal 93C9 YAC led to the isolation of a related clone with 96% identity, demonstrating the existence of a low-copy repeat with members close to the proximal and distal breakpoints. Taken together, our data suggest a complex, low-copy repeat with members at both the proximal and distal boundaries.

Constraints on the brown dwarf mass function from optical and infrared searches

International Nuclear Information System (INIS)

Probst, R.G.

1986-01-01

Photometric surveys of faint proper motion stars and searches for infrared binary companions have identified a few very low luminosity objects. The author considers how these searches may constrain the brown dwarf mass function. An astrophysically plausible brown dwarf population is defined which yields a dark mass density = 0.5 x the observed density. Using the sensitivity and other limits of various surveys, the expected numbers of observable brown dwarfs are obtained from the model population for comparison with actual results. Reasonable improvement in search protocol could yield statistically significant tests of the brown dwarf mass function. (author)

Brown and Beige Fat: Molecular Parts of a Thermogenic Machine.

Science.gov (United States)

Cohen, Paul; Spiegelman, Bruce M

2015-07-01

The epidemic of obesity and type 2 diabetes has increased interest in pathways that affect energy balance in mammalian systems. Brown fat, in all of its dimensions, can increase energy expenditure through the dissipation of chemical energy in the form of heat, using mitochondrial uncoupling and perhaps other pathways. We discuss here some of the thermodynamic and cellular aspects of recent progress in brown fat research. This includes studies of developmental lineages of UCP1(+) adipocytes, including the discovery of beige fat cells, a new thermogenic cell type. We also discuss the physiology and transcriptional control of brown and beige cells in rodents and the state of current knowledge about human brown fat. © 2015 by the American Diabetes Association. Readers may use this article as long as the work is properly cited, the use is educational and not for profit, and the work is not altered.

41 CFR 51-6.8 - Deletion of items from the Procurement List.

Science.gov (United States)

2010-07-01

... 41 Public Contracts and Property Management 1 2010-07-01 2010-07-01 true Deletion of items from...-PROCUREMENT PROCEDURES § 51-6.8 Deletion of items from the Procurement List. (a) When a central nonprofit... shall notify the Committee staff immediately. Before reaching a decision to request a deletion of an...

Students Use VLA to Make Startling Brown-Dwarf Discovery

Science.gov (United States)

2001-03-01

A group of summer students making a long-shot astronomical gamble with the National Science Foundation's (NSF) Very Large Array (VLA) have found the first radio emission ever detected from a brown dwarf, an enigmatic object that is neither a star nor a planet, but something in between. Their surprising discovery is forcing experts to re-think their theories about how brown dwarfs work. The Very Large Array "Many astronomers are surprised at this discovery, because they didn't expect such strong radio emission from this object," said Shri Kulkarni, a Caltech professor who was on the team that first discovered a brown dwarf in 1995, and advisor to one of the students. "What is so cool is that this is research that probably nobody else would have tried to do because of its low chance of success. That made it ideal for summer students -- we had almost nothing to lose," said Kate Becker, a student at Oberlin College in Ohio. "The radio emission these students discovered coming from this brown dwarf is 10,000 times stronger than anyone expected," said Dale Frail, an astronomer at the National Radio Astronomy Observatory (NRAO) in Socorro, NM. "This student project is going to open up a whole new area of research for the VLA," Frail added. The students, in addition to Becker, are: Edo Berger from Caltech; Steven Ball from New Mexico Tech in Socorro, NM; Melanie Clarke from Carleton College in Northfield, MN; Therese Fukuda from the University of Denver; Ian Hoffman from the University of New Mexico in Albuquerque; Richard Mellon from The Pennsylvania State University; Emmanuel Momjian from the University of Kentucky; Nathanial Murphy from Amherst College in Amherst, MA; Stacey Teng from the University of Maryland; Timothy Woodruff from Southwestern University in Georgetown, TX; Ashley Zauderer from Agnes Scott College in Decatur, GA; and Robert Zavala from New Mexico State University in Las Cruces, NM. Frail also is an author of the research paper, published in the March

Interleukin 3 gene is located on human chromosome 5 and is deleted in myeloid leukemias with a deletion of 5q

International Nuclear Information System (INIS)

Le Beau, M.M.; Epstein, N.D.; O'Brien, S.J.; Nienhuis, A.W.; Yang, Y.C.; Clark, S.C.; Rowley, J.D.

1987-01-01

The gene IL-3 encodes interleukin 3, a hematopoietic colony-stimulating factor (CSF) that is capable of supporting the proliferation of a broad range of hematopoietic cell types. By using somatic cell hybrids and in situ chromosomal hybridization, the authors localized this gene to human chromosome 5 at bands q23-31, a chromosomal region that is frequently deleted [del(5q)] in patients with myeloid disorders. By in situ hybridization, IL-3 was found to be deleted in the 5q-chromosome of one patient with refractory anemia who had a del(5)(q15q33.3), of three patients with refractory anemia (two patients) or acute nonlymphocytic leukemia (ANLL) de novo who had a similar distal breakpoint [del(5)(q13q33.3)], and of a fifth patient, with therapy-related ANLL, who had a similar distal breakpoint in band q33[del(5)(q14q33.3)]. Southern blot analysis of somatic cell hybrids retaining the normal or the deleted chromosome 5 from two patients with the refractory anemia 5q- syndrome indicated that IL-3 sequences were absent from the hybrids retaining the deleted chromosome 5 but not from hybrids that had a cytologically normal chromosome 5. Thus, a small segment of chromosome 5 contains IL-3, GM-CSF, CSF-1, and FMS. The findings and earlier results indicating that GM-CSF, CSF-1, and FMS were deleted in the 5q- chromosome, suggest that loss of IL-3 or of other CSF genes may play an important role in the pathogenesis of hematologic disorders associated with a del(5q)

A Very Cool Pair of Brown Dwarfs

Science.gov (United States)

2011-03-01

Observations with the European Southern Observatory's Very Large Telescope, along with two other telescopes, have shown that there is a new candidate for the coldest known star: a brown dwarf in a double system with about the same temperature as a freshly made cup of tea - hot in human terms, but extraordinarily cold for the surface of a star. This object is cool enough to begin crossing the blurred line dividing small cold stars from big hot planets. Brown dwarfs are essentially failed stars: they lack enough mass for gravity to trigger the nuclear reactions that make stars shine. The newly discovered brown dwarf, identified as CFBDSIR 1458+10B, is the dimmer member of a binary brown dwarf system located just 75 light-years from Earth [1]. The powerful X-shooter spectrograph on ESO's Very Large Telescope (VLT) was used to show that the composite object was very cool by brown dwarf standards. "We were very excited to see that this object had such a low temperature, but we couldn't have guessed that it would turn out to be a double system and have an even more interesting, even colder component," said Philippe Delorme of the Institut de planétologie et d'astrophysique de Grenoble (CNRS/Université Joseph Fourier), a co-author of the paper. CFBDSIR 1458+10 is the coolest brown dwarf binary found to date. The dimmer of the two dwarfs has now been found to have a temperature of about 100 degrees Celsius - the boiling point of water, and not much different from the temperature inside a sauna [2]. "At such temperatures we expect the brown dwarf to have properties that are different from previously known brown dwarfs and much closer to those of giant exoplanets - it could even have water clouds in its atmosphere," said Michael Liu of the University of Hawaii's Institute for Astronomy, who is lead author of the paper describing this new work. "In fact, once we start taking images of gas-giant planets around Sun-like stars in the near future, I expect that many of them

Platelet function in brown bear (Ursus arctos compared to man

Directory of Open Access Journals (Sweden)

Särndahl Eva

2010-06-01

Full Text Available Abstract Background Information on hemostasis and platelet function in brown bear (Ursus arctos is of importance for understanding the physiological, protective changes during hibernation. Objective The study objective was to document platelet activity values in brown bears shortly after leaving the den and compare them to platelet function in healthy humans. Methods Blood was drawn from immobilized wild brown bears 7-10 days after leaving the den in mid April. Blood samples from healthy human adults before and after clopidogrel and acetylsalicylic acid administration served as control. We analyzed blood samples by standard blood testing and platelet aggregation was quantified after stimulation with various agonists using multiple electrode aggregometry within 3 hours of sampling. Results Blood samples were collected from 6 bears (3 females between 1 and 16 years old and from 10 healthy humans. Results of adenosine diphosphate, aspirin, and thrombin receptor activating peptide tests in bears were all half or less of those in humans. Platelet and white blood cell counts did not differ between species but brown bears had more and smaller red blood cells compared with humans. Conclusion Using three different tests, we conclude that platelet function is lower in brown bears compared to humans. Our findings represent the first descriptive study on platelet function in brown bears and may contribute to explain how bears can endure denning without obvious thrombus building. However, the possibility that our findings reflect test-dependent and not true biological variations in platelet reactivity needs further studies.

Transcriptomic events associated with internal browning of apple during postharvest storage

OpenAIRE

Mellidou, Ifigeneia; Buts, Kim; Hatoum, Darwish; Ho, Quang Tri; Johnston, Jason W; Watkins, Christopher B; Schaffer, Robert J; Gapper, Nigel E; Giovannoni, Jim J; Rudell, David R; Hertog, Maarten LATM; Nicolai, Bart M

2014-01-01

Background Postharvest ripening of apple (Malus x domestica) can be slowed down by low temperatures, and a combination of low O2 and high CO2 levels. While this maintains the quality of most fruit, occasionally storage disorders such as flesh browning can occur. This study aimed to explore changes in the apple transcriptome associated with a flesh browning disorder related to controlled atmosphere storage using RNA-sequencing techniques. Samples from a browning-susceptible cultivar (‘Braeburn...

Spontaneous and mutagen-induced deletions: mechanistic studies in Salmonella tester strain TA102

International Nuclear Information System (INIS)

Levin, D.E.; Marnett, L.J.; Ames, B.N.

1984-01-01

Salmonella tester strain TA102 carries the hisG428 ochre mutation on the multicopy plasmid pAQ1. DNA sequence analysis of 45 spontaneous revertants of hisG428 on the chromosome in the presence of pKM101 (strain TA103) indicates that hisG428 revertants fall into three major categories: (i) small, in-frame deletions (3 or 6 base pairs) that remove part or all of the ochre triplet; (ii) base substitution mutations at the ochre site; (iii) extragenic ochre suppressors. Deletion revertants are identified in a simple phenotypic screen by their resistance to the inhibitory histidine analog thiazolealanine, which feedback inhibits the wild-type hisG enzyme but not the enzyme resulting from the deletions. The effect of various genetic backgrounds on the generation of spontaneous deletion revertants was examined. The presence of a uvrB mutation or a recA mutation suppressed the generation of spontaneous deletion revertants to approximately 1/2.5. When hisG428 was in multiple copies on pAQ1, the frequency of spontaneous deletion revertants increased by 40-fold, which is the approximate copy number of pAQ1. Mutagenic agents that induce single-strand breaks in DNA (e.g., x-rays, bleomycin, and nalidixic acid) induced deletion revertants in TA102. These agents induced deletion revertants only in hisG428 on pAQ1 and only in the presence of pKM101. Deletion revertants were not induced by frameshift mutagens (i.e., ICR-191 and 9aminoacridine). These results indicate that different pathways exist for the generation of spontaneous and mutagen-induced deletion revertants of hisG428. 41 references, 2 figures, 3 tables

Sorghum Brown Midrib Mutants, Tools to Improve Biomass for Biofuels

Science.gov (United States)

To improve sorghum for cellulosic bioenergy uses, brown midrib mutants are being investigated for their ability to increase the conversion efficiency of biomass. brown midrib 6 and 12 (bmr6 and 12) mutants affect monolignol biosynthesis resulting in reduced lignin content and altered lignin composi...

Agaricus bisporus browning: a review

NARCIS (Netherlands)

Jolivet, S.; Arpin, N.; Wichers, H.J.; Pellon, G.

1998-01-01

Agaricus bisporus browning is a common and economically detrimental phenomenon, in which melanogenic phenols are enzymically processed into quinones, which evolve eventually to melanins. This review deals with the two fundamental sides of this process, enzyme(s) and phenolic substrates. Mushroom

Deletions of the hypervariable region (HVR) in open reading frame 1 of hepatitis E virus do not abolish virus infectivity: evidence for attenuation of HVR deletion mutants in vivo.

Science.gov (United States)

Pudupakam, R S; Huang, Y W; Opriessnig, T; Halbur, P G; Pierson, F W; Meng, X J

2009-01-01

Hepatitis E virus (HEV) is an important human pathogen, although little is known about its biology and replication. Comparative sequence analysis revealed a hypervariable region (HVR) with extensive sequence variations in open reading frame 1 of HEV. To elucidate the role of the HVR in HEV replication, we first constructed two HVR deletion mutants, hHVRd1 and hHVRd2, with in-frame deletion of amino acids (aa) 711 to 777 and 747 to 761 in the HVR of a genotype 1 human HEV replicon. Evidence of HEV replication was detected in Huh7 cells transfected with RNA transcripts from mutant hHVRd2, as evidenced by expression of enhanced green fluorescent protein. To confirm the in vitro results, we constructed three avian HEV mutants with various HVR deletions: mutants aHVRd1, with deletion of aa 557 to 585 (Delta557-585); aHVRd2 (Delta612-641); and aHVRd3 (Delta557-641). Chickens intrahepatically inoculated with capped RNA transcripts from mutants aHVRd1 and aHVRd2 developed active viral infection, as evidenced by seroconversion, viremia, and fecal virus shedding, although mutant aHVRd3, with complete HVR deletion, was apparently attenuated in chickens. To further verify the results, we constructed four additional HVR deletion mutants using the genotype 3 swine HEV as the backbone. Mutants sHVRd2 (Delta722-781), sHVRd3 (Delta735-765), and sHVRd4 (Delta712-765) were shown to tolerate deletions and were infectious in pigs intrahepatically inoculated with capped RNA transcripts from the mutants, whereas mutant sHVRd1 (Delta712-790), with a nearly complete HVR deletion, exhibited an attenuation phenotype in infected pigs. The data from these studies indicate that deletions in HVR do not abolish HEV infectivity in vitro or in vivo, although evidence for attenuation was observed for HEV mutants with a larger or nearly complete HVR deletion.

An environment-mediated quantum deleter

International Nuclear Information System (INIS)

Srikanth, R.; Banerjee, Subhashish

2007-01-01

Environment-induced decoherence presents a great challenge to realizing a quantum computer. We point out the somewhat surprising fact that decoherence can be useful, indeed necessary, for practical quantum computation, in particular, for the effective erasure of quantum memory in order to initialize the state of the quantum computer. The essential point behind the deleter is that the environment, by means of a dissipative interaction, furnishes a contractive map towards a pure state. We present a specific example of an amplitude damping channel provided by a two-level system's interaction with its environment in the weak Born-Markov approximation. This is contrasted with a purely dephasing, non-dissipative channel provided by a two-level system's interaction with its environment by means of a quantum nondemolition interaction. We point out that currently used state preparation techniques, for example using optical pumping, essentially perform as quantum deleters

Haploid deletion strains of Saccharomyces cerevisiae that determine survival during space flight

Science.gov (United States)

Johanson, Kelly; Allen, Patricia L.; Gonzalez-Villalobos, Romer A.; Nesbit, Jacqueline; Nickerson, Cheryl A.; Höner zu Bentrup, Kerstin; Wilson, James W.; Ramamurthy, Rajee; D'Elia, Riccardo; Muse, Kenneth E.; Hammond, Jeffrey; Freeman, Jake; Stodieck, Louis S.; Hammond, Timothy G.

2007-02-01

This study identifies genes that determine survival during a space flight, using the model eukaryotic organism, Saccharomyces cerevisiae. Select strains of a haploid yeast deletion series grew during storage in distilled water in space, but not in ground based static or clinorotation controls. The survival advantages in space in distilled water include a 133-fold advantage for the deletion of PEX19, a chaperone and import receptor for newly- synthesized class I peroxisomal membrane proteins, to 77-40 fold for deletion strains lacking elements of aerobic respiration, isocitrate metabolism, and mitochondrial electron transport. Following automated addition of rich growth media, the space flight was associated with a marked survival advantage of strains with deletions in catalytically active genes including hydrolases, oxidoreductases and transferases. When compared to static controls, space flight was associated with a marked survival disadvantage of deletion strains lacking transporter, antioxidant and catalytic activity. This study identifies yeast deletion strains with a survival advantage during storage in distilled water and space flight, and amplifies our understanding of the genes critical for survival in space.

Restoration of half the normal dystrophin sequence in a double-deletion Duchenne muscular dystrophy family

Energy Technology Data Exchange (ETDEWEB)

Hoop, R.C.; Schwartz, L.S.; Hoffman, E.P. [Univ. of Pittsburgh School of Medicine, Pittsburgh, PA (United States); Russo, L.S. [Univ. of Florida, Jacksonville, FL (United States); Riconda, D.L. [Orlando Regional Medical Center, Orlando, FL (United States)

1994-02-01

Two male cousins with Duchenne muscular dystrophy were found to have different maternal dystrophin gene haplotypes and different deletion mutations. One propositus showed two noncontiguous deletions-one in the 5{prime}, proximal deletional hotspot region, and the other in the 3{prime}, more distal deletional hotspot region. The second propositus showed only the 5{prime} deletion. Using multiple fluorescent exon dosage and fluorescent multiplex CA repeat linkage analyses, the authors show that the mother of each propositus carries both deletions on the same grandmaternal X chromosome. This paradox is explained by a single recombinational event between the 2 deleted regions of one of the carrier`s dystrophin genes, giving rise to a son with a partially {open_quotes}repaired{close_quotes} gene retaining only the 5{prime} deletion. 20 refs., 4 figs.

Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.

Science.gov (United States)

Irum, Bushra; Khan, Shahid Y; Ali, Muhammad; Daud, Muhammad; Kabir, Firoz; Rauf, Bushra; Fatima, Fareeha; Iqbal, Hira; Khan, Arif O; Al Obaisi, Saif; Naeem, Muhammad Asif; Nasir, Idrees A; Khan, Shaheen N; Husnain, Tayyab; Riazuddin, Sheikh; Akram, Javed; Eghrari, Allen O; Riazuddin, S Amer

2016-01-01

The aim of this study is to identify the molecular basis of autosomal recessive congenital cataracts (arCC) in a large consanguineous pedigree. All participating individuals underwent a detailed ophthalmic examination. Each patient's medical history, particularly of cataracts and other ocular abnormalities, was compiled from available medical records and interviews with family elders. Blood samples were donated by all participating family members and used to extract genomic DNA. Genetic analysis was performed to rule out linkage to known arCC loci and genes. Whole-exome sequencing libraries were prepared and paired-end sequenced. A large deletion was found that segregated with arCC in the family, and chromosome walking was conducted to estimate the proximal and distal boundaries of the deletion mutation. Exclusion and linkage analysis suggested linkage to a region of chromosome 6p24 harboring GCNT2 (glucosaminyl (N-acetyl) transferase 2) with a two-point logarithm of odds score of 5.78. PCR amplifications of the coding exons of GCNT2 failed in individuals with arCC, and whole-exome data analysis revealed a large deletion on chromosome 6p in the region harboring GCNT2. Chromosomal walking using multiple primer pairs delineated the extent of the deletion to approximately 190 kb. Interestingly, a failure to amplify a junctional fragment of the deletion break strongly suggests an insertion in addition to the large deletion. Here, we report a novel insertion/deletion mutation at the GCNT2 locus that is responsible for congenital cataracts in a large consanguineous family.

SERUM ACETYLCHOLINESTERASE LEVEL IN THE PATIENTS OF OPIOID (BROWN SUGAR) DEPENDENCE

OpenAIRE

Shah, Nilesh; Dave, Kirti

1992-01-01

The authors compared the serum acetylcholinesterase level in the patients of brown sugar dependence and the normal volunteers. Significantly lower level of serum acetylcholinesterase was found in patients of brown sugar dependence.

K2 Ultracool Dwarfs Survey. II. The White Light Flare Rate of Young Brown Dwarfs

Science.gov (United States)

Gizis, John E.; Paudel, Rishi R.; Mullan, Dermott; Schmidt, Sarah J.; Burgasser, Adam J.; Williams, Peter K. G.

2017-08-01

We use Kepler K2 Campaign 4 short-cadence (one-minute) photometry to measure white light flares in the young, moving group brown dwarfs 2MASS J03350208+2342356 (2M0335+23) and 2MASS J03552337+1133437 (2M0355+11), and report on long-cadence (thirty-minute) photometry of a superflare in the Pleiades M8 brown dwarf CFHT-PL-17. The rotation period (5.24 hr) and projected rotational velocity (45 km s-1) confirm 2M0335+23 is inflated (R≥slant 0.20 {R}⊙ ) as predicted for a 0.06 {M}⊙ , 24 Myr old brown dwarf βPic moving group member. We detect 22 white light flares on 2M0335+23. The flare frequency distribution follows a power-law distribution with slope -α =-1.8+/- 0.2 over the range 1031 to 1033 erg. This slope is similar to that observed in the Sun and warmer flare stars, and is consistent with lower-energy flares in previous work on M6-M8 very-low-mass stars; taking the two data sets together, the flare frequency distribution for ultracool dwarfs is a power law over 4.3 orders of magnitude. The superflare (2.6× {10}34 erg) on CFHT-PL-17 shows higher-energy flares are possible. We detect no flares down to a limit of 2× {10}30 erg in the nearby L5γ AB Dor moving group brown dwarf 2M0355+11, consistent with the view that fast magnetic reconnection is suppressed in cool atmospheres. We discuss two multi-peaked flares observed in 2M0335+23, and argue that these complex flares can be understood as sympathetic flares, in which fast-mode magnetohydrodynamic waves similar to extreme-ultraviolet waves in the Sun trigger magnetic reconnection in different active regions.

Central Fibroblast Growth Factor 21 Browns White Fat via Sympathetic Action in Male Mice.

Science.gov (United States)

Douris, Nicholas; Stevanovic, Darko M; Fisher, Ffolliott M; Cisu, Theodore I; Chee, Melissa J; Nguyen, Ngoc L; Zarebidaki, Eleen; Adams, Andrew C; Kharitonenkov, Alexei; Flier, Jeffrey S; Bartness, Timothy J; Maratos-Flier, Eleftheria

2015-07-01

Fibroblast growth factor 21 (FGF21) has multiple metabolic actions, including the induction of browning in white adipose tissue. Although FGF21 stimulated browning results from a direct interaction between FGF21 and the adipocyte, browning is typically associated with activation of the sympathetic nervous system through cold exposure. We tested the hypothesis that FGF21 can act via the brain, to increase sympathetic activity and induce browning, independent of cell-autonomous actions. We administered FGF21 into the central nervous system via lateral ventricle infusion into male mice and found that the central treatment increased norepinephrine turnover in target tissues that include the inguinal white adipose tissue and brown adipose tissue. Central FGF21 stimulated browning as assessed by histology, expression of uncoupling protein 1, and the induction of gene expression associated with browning. These effects were markedly attenuated when mice were treated with a β-blocker. Additionally, neither centrally nor peripherally administered FGF21 initiated browning in mice lacking β-adrenoceptors, demonstrating that an intact adrenergic system is necessary for FGF21 action. These data indicate that FGF21 can signal in the brain to activate the sympathetic nervous system and induce adipose tissue thermogenesis.

Multigene deletions in lung adenocarcinomas from irradiated and control mice

International Nuclear Information System (INIS)

Zhang, Y.; Woloschak, G.E.

1996-01-01

K-ras codon 12 point mutations mRb and p53 gene deletions were examined in tissues from 120 normal lungs and lung adenocarcinomas that were Formalin-treated and paraffin-embedded 25 years ago. The results showed that 12 of 60 (20%) lung adenocarcinomas had mRb deletions. All lung adenocarcinomas that were initially found bearing deleted mRb had p53 deletions (15 of 15; 100%). A significantly higher mutation frequency for K-ras codon 12 point mutations was also found in the lung adenocarcinomas from mice exposed to 24 once-weekly neutron irradiation (10 of 10; 100%) compared with those exposed to 24 or 60 once-weekly γ-ray doses (5 of 10; 50%). The data suggested that p53 and K-ras gene alterations were two contributory factors responsible for the increased incidence of lung adenocarcinoma in B6CF 1 male mice exposed to protracted neutron radiation

Speciation and Localization of Arsenic in White and Brown Rice Grains

Energy Technology Data Exchange (ETDEWEB)

Meharg, Andrew A.; Lombi, Enzo; Williams, Paul N.; Scheckel, Kirk G.; Feldmann, Joerg; Raab, Andrea; Zhu, Yongguan; Islam, Rafiql (EPA); (Bangladesh); (UCopenhagen); (Aberdeen); (Chinese Aca. Sci.)

2008-06-30

Synchrotron-based X-ray fluorescence (S-XRF) was utilized to locate arsenic (As) in polished (white) and unpolished (brown) rice grains from the United States, China, and Bangladesh. In white rice As was generally dispersed throughout the grain, the bulk of which constitutes the endosperm. In brown rice As was found to be preferentially localized at the surface, in the region corresponding to the pericarp and aleurone layer. Copper, iron, manganese, and zinc localization followed that of arsenic in brown rice, while the location for cadmium and nickel was distinctly different, showing relatively even distribution throughout the endosperm. The localization of As in the outer grain of brown rice was confirmed by laser ablation ICP?MS. Arsenic speciation of all grains using spatially resolved X-ray absorption near edge structure (?-XANES) and bulk extraction followed by anion exchange HPLC?ICP?MS revealed the presence of mainly inorganic As and dimethylarsinic acid (DMA). However, the two techniques indicated different proportions of inorganic:organic As species. A wider survey of whole grain speciation of white (n = 39) and brown (n = 45) rice samples from numerous sources (field collected, supermarket survey, and pot trials) showed that brown rice had a higher proportion of inorganic arsenic present than white rice. Furthermore, the percentage of DMA present in the grain increased along with total grain arsenic.

Browning of Subcutaneous White Adipose Tissue in Humans

OpenAIRE

Sidossis, Labros S.; Porter, Craig; Saraf, Manish K.; Børsheim, Elisabet; Radhakrishnan, Ravi S.; Chao, Tony; Ali, Arham; Chondronikola, Maria; Mlcak, Ronald; Finnerty, Celeste C.; Hawkins, Hal K.; Toliver-Kinsky, Tracy; Herndon, David N.

2015-01-01

Since the presence of brown adipose tissue (BAT) was confirmed in adult humans, BAT has become a therapeutic target for obesity and insulin resistance. We examined whether human subcutaneous white adipose tissue (sWAT) can adopt a BAT-like phenotype using a clinical model of prolonged and severe adrenergic stress. sWAT samples were collected from severely burned and healthy individuals. A subset of burn victims were prospectively followed during their acute hospitalization. Browning of sWAT w...

Broad-scale patterns of Brook Trout responses to introduced Brown Trout in New York

Science.gov (United States)

McKenna, James E.; Slattery, Michael T.; Kean M. Clifford,

2013-01-01

Brook Trout Salvelinus fontinalis and Brown Trout Salmo trutta are valuable sport fish that coexist in many parts of the world due to stocking introductions. Causes for the decline of Brook Trout within their native range are not clear but include competition with Brown Trout, habitat alteration, and repetitive stocking practices. New York State contains a large portion of the Brook Trout's native range, where both species are maintained by stocking and other management actions. We used artificial neural network models, regression, principal components analysis, and simulation to evaluate the effects of Brown Trout, environmental conditions, and stocking on the distribution of Brook Trout in the center of their native range. We found evidence for the decline of Brook Trout in the presence of Brown Trout across many watersheds; 22% of sampled reaches where both species were expected to occur contained only Brown Trout. However, a model of the direct relationship between Brook Trout and Brown Trout abundance explained less than 1% of data variation. Ordination showed extensive overlap of Brook Trout and Brown Trout habitat conditions, with only small components of the hypervolume (multidimensional space) being distinctive. Subsequent analysis indicated higher abundances of Brook Trout in highly forested areas, while Brown Trout were more abundant in areas with relatively high proportions of agriculture. Simulation results indicated that direct interactions and habitat conditions were relatively minor factors compared with the effects of repeated stocking of Brown Trout into Brook Trout habitat. Intensive annual stocking of Brown Trout could eliminate resident Brook Trout in less than a decade. Ecological differences, harvest behavior, and other habitat changes can exacerbate Brook Trout losses. Custom stocking scenarios with Brown Trout introductions at relatively low proportions of resident Brook Trout populations may be able to sustain healthy populations of both

Plume trajectory validation study: Brown cloud support project overview

International Nuclear Information System (INIS)

Brown-Strattan, M.A.; Smith, M.L.

1991-01-01

The brown cloud is an air pollution phenomenon of great concern to the Denver metropolitan area. Regulatory agencies, academia, and research organizations are involved in characterizing the development and transport of the brown cloud and identifying mitigation approaches. In support of this effort, NOAA conducted releases of small (one cubic meter) constant density balloons from sites in Denver and along the South Platte Valley. These balloons, called ''tetroons'' because of their tetrahedral shape, carried five-ounce transponders and were tracked by radar as they rose to predetermined altitudes and followed airflow patterns at those altitudes. The data gathered from these releases included the geographic position and altitude of each tetroon over time. These data will aid efforts to understand brown cloud development, structure, and transport

Brown tumor mimicking maxillary sinus mucocele as the first manifestation of primary hyperparathyroidism

DEFF Research Database (Denmark)

Guldfred, Liviu-Adelin; Daugaard, Søren; von Buchwald, Christian

2012-01-01

We describe the first case of brown tumor mimicking a maxillary sinus mucocele as the first manifestation of the patient's primary hyperparathyroidism. A 34-year old woman presented with a 14 days history of elevation of the right orbit, retrobulbar pain and cheek anesthesia. The CT and MR evalua...... either giant cell granuloma or brown tumor. The finding of hyperparathyroidism confirmed the diagnosis of brown tumor. To our knowledge, this is the first report of cystic brown tumor mimicking a mucocele of the maxillary sinus....

Connecting Young Brown Dwarfs and Directly Imaged Gas-Giant Planets

Science.gov (United States)

Liu, Michael; Dupuy, Trent; Allers, Katelyn; Aller, Kimberly; Best, William; Magnier, Eugene

2015-12-01

Direct detections of gas-giant exoplanets and discoveries of young (~10-100 Myr) field brown dwarfs from all-sky surveys are strengthening the link between the exoplanet and brown dwarf populations, given the overlapping ages, masses, temperatures, and surface gravities. In light of the relatively small number of directly imaged planets and the modest associated datasets, the large census of young field brown dwarfsprovides a compelling laboratory for enriching our understanding of both classes of objects. However, work to date on young field objects has typically focused on individual discoveries.We present a large comprehensive study of the youngest field brown dwarfs, comprising both previously known objects and our new discoveries from the latest wide-field surveys (Pan-STARRS-1 and WISE). With masses now extending down to ~5 Jupiter masses, these objects have physical properties that largely overlap young gas-giant planets and thus are promising analogs for studying exoplanet atmospheres at unparalleled S/N, spectral resolution, and wavelength coverage. We combine high-quality spectra and parallaxes to determine spectral energy distributions, luminosities, temperatures, and ages for young field objects. We demonstrate that this population spans a continuum in the color-magnitude diagram, thereby forming a bridge between the hot and cool extremes of directly imaged planets. We find that the extremely dusty properties of the planets around 2MASS J1207-39 and HR 8799 do occur in some young brown dwarfs, but these properties do not have a simple correspondence with age, perhaps contrary to expectations. We find young field brown dwarfs can have unusually low temperatures and suggest a new spectral type-temperature scale appropriate for directly imaged planets.To help provide a reference for extreme-contrast imaging surveys, we establish a grid of spectral standards and benchmarks, based on membership in nearby young moving groups, in order to calibrate gravity

Exploration of methods to localize DNA sequences missing from c-locus deletions

International Nuclear Information System (INIS)

Albritton, L.M.; Russell, L.B.; Montgomery, C.S.

1987-01-01

The authors have earlier characterized a large number of radiation-induced mutations at the c locus (on Chromosome 7) through genetic analysis, including extensive complementation tests. Based on this work, they have postulated that many of these mutations are deletions of various lengths, overlapping at c (the marker used in the mutation-rate experiments that generated the mutants). It was possible to apportion these deletions among 13 complementation groups and to fit them to a linear map of 8 functional units. Collectively, the deletions extend from a point between tp and c to one between sh-1 and Hbb, i.e., a genetic distance of from 6 to 10 cM, corresponding to at least 10 4 Kb of DNA. This year, the authors completed a pilot study designed to explore methods for finding DNA sequences that map to the region covered by the various c-deletions. The general plan was to probe DNA with clones derived from Chromosome-7-enriched libraries or with sequences known (or suspected) to reside in Chromosome 7. Three methods were explored for deriving the c-region-deficient DNA: (a) from mouse-hamster somatic-cell hydrids retaining a deleted mouse Chromosome 7, but no homologue; (b) from F 1 hybrids of M. musculus domesticus (carrying a c-locus deletion) by M. spretus; and (c) from F 1 hybrids of M. domesticus stocks carrying complementing deletions

Deletions induced by gamma rays in the genome of Escherichia coli

International Nuclear Information System (INIS)

Raha, Manidipa; Hutchinson, Franklin

1991-01-01

An Escherichia coli lysogen was constructed with a lambda phage bearing a lacZ gene surrounded by about 100 x 10 3 base-pairs of dispensable DNA. The lacZ mutants induced by gamma rays in this lysogen were more than 10% large deletions, ranging in size from 0.6 x 10 -3 to 70 x 10 3 base-pairs. These deletions were centered, not on lacZ, but on a ColE1 origin of DNA replication located 1.2 x 10 3 bases downstream from lacZ, suggesting that this origin of replication was involved in the process by which deletions were formed. In agreement with this hypothesis, a lysogen of the same phage without the ColE1 origin showed a very much lower percentage of radiation-induced deletions, as did a second lysogen of a lambda phage without any known plasmid origin of replication. Indirect evidence is presented for radiation-induced deletions centered on the lambda origin of DNA replication in a lysogen. (author)

Utilization of brown coal in FRG power plants

Energy Technology Data Exchange (ETDEWEB)

Kotler, V.R.

1985-07-01

FRG methods are studied for utilizing brown coal in view of the development of Kansk-Achinsk brown coal deposits. The use of brown coal in FRG power plants has increased from 15% in 1950- 1960 to 85% (total output) in 1982, providing 79.4 TWh of electrical energy. The remainder was used for briquetting, pulverization and breeze coke. In 1982 nearly 100 million tons of brown coal were burned by six large power stations (rated capacity 11,400 MW) to produce nearly 80 billion kWh of energy. Measures are discussed taken to reduce slagging and to remove excessive moisture content. Problems are analyzed associated with increased contamination of the atmosphere in areas with high population density (412/km/sup 2/) and cost of suppression is reviewed. According to available data, the cost of preventive measures taken by FRG, USA, Japan and the Netherlands is equal to 30% of the total cost of the energy. The most critical problem is suppression of sulfur dioxide, either by dry or wet scrubbers or by the addition of dry dolomite or lime to the furnace (75% of all SO/sub 2/ emissions in FRG comes from power stations). A method is described developed by RWE based on a series of distribution headers in the upper part of combustion chambers. At best, 70-80% reduction can be achieved. 14 references.

Playing with Father: Anthony Browne's Picture Books and the Masculine.

Science.gov (United States)

Bradford, Clare

1998-01-01

Concentrates on the father figures in Anthony Browne's books and on the ways in which gender ideologies are encoded in works dealing with family relationships, concentrating on "Zoo" and "The Big Baby," but also looking at "Gorilla" and "Piggybook." Finds that the diversity of Browne's work provides children…

Clozapine modifies the differentiation program of human adipocytes inducing browning.

Science.gov (United States)

Kristóf, E; Doan-Xuan, Q-M; Sárvári, A K; Klusóczki, Á; Fischer-Posovszky, P; Wabitsch, M; Bacso, Z; Bai, P; Balajthy, Z; Fésüs, L

2016-11-29

Administration of second-generation antipsychotic drugs (SGAs) often leads to weight gain and consequent cardio-metabolic side effects. We observed that clozapine but not six other antipsychotic drugs reprogrammed the gene expression pattern of differentiating human adipocytes ex vivo, leading to an elevated expression of the browning marker gene UCP1, more and smaller lipid droplets and more mitochondrial DNA than in the untreated white adipocytes. Laser scanning cytometry showed that up to 40% of the differentiating single primary and Simpson-Golabi-Behmel syndrome (SGBS) adipocytes had the characteristic morphological features of browning cells. Furthermore, clozapine significantly upregulated ELOVL3, CIDEA, CYC1, PGC1A and TBX1 genes but not ZIC1 suggesting induction of the beige-like and not the classical brown phenotype. When we tested whether browning induced by clozapine can be explained by its known pharmacological effect of antagonizing serotonin (5HT) receptors, it was found that browning cells expressed 5HT receptors 2A, 1D, 7 and the upregulation of browning markers was diminished in the presence of exogenous 5HT. Undifferentiated progenitors or completely differentiated beige or white adipocytes did not respond to clozapine administration. The clozapine-induced beige cells displayed increased basal and oligomycin-inhibited (proton leak) oxygen consumption, but these cells showed a lower response to cAMP stimulus as compared with control beige adipocytes indicating that they are less capable to respond to natural thermogenic anti-obesity cues. Our data altogether suggest that novel pharmacological stimulation of these masked beige adipocytes can be a future therapeutic target for the treatment of SGA-induced weight gain.

Effect of hydrothermal dewatering on the slurryability of brown coals

International Nuclear Information System (INIS)

Yu Yujie; Liu Jianzhong; Wang Ruikun; Zhou Junhu; Cen Kefa

2012-01-01

Highlights: ► Brown coals are upgraded by hydrothermal dewatering. ► The moisture content and oxygen functional groups decrease during the process. ► The point of zero charge and the contact angle rise as the temperature increases. ► The products were highly hydrophobic. ► The improvement on slurryability of solid products were examined. - Abstract: Two brown coals from China were dewatered under hydrothermal dewatering (HTD) conditions at 250–320 °C for 1 h in a 2 L autoclave. The hydrothermally dewatered products were used to prepare coal water slurry (CWS) with a lower viscosity than brown raw coal slurry. Moreover, the coal rank and heat value of the brown coal increased as the inherent moisture and oxygen content decreased during the HTD process. The maximum solid concentration of CWS prepared from XiMeng coal increased from 45.7% to 59.3%, whereas that of CWS prepared from BaoTou coal increased from 53.7% to 62.1%, after being dewatered at 320 °C. The improvement in the slurryability of brown coal significantly depended on the final temperature of the HTD process, the mechanism of which can be explained by the chemical analysis of oxygen functional groups, zeta potential, and the contact angle of the surface between coal and water. The oxygen functional groups, the oxygen/carbon ratio and hydrogen/carbon ratio in brown coal decreased, indicating that the coal rank was upgraded during the HTD process. As a result, both the point of zero charge and the contact angle increased, implying that the HTD products were highly hydrophobic.

The feeding habits of brown hyaenas ( Hyaena brunnea ) on a game ...

African Journals Online (AJOL)

The feeding habits of brown hyaenas ( Hyaena brunnea ) on a game ranch in Limpopo Province, South Africa. ... brown hyaena Hyaena brunnea scats from a game ranch in the Limpopo Province, South Africa. ... AJOL African Journals Online.

Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4.

Science.gov (United States)

Bondurand, Nadége; Fouquet, Virginie; Baral, Viviane; Lecerf, Laure; Loundon, Natalie; Goossens, Michel; Duriez, Benedicte; Labrune, Philippe; Pingault, Veronique

2012-09-01

Waardenburg syndrome type 4 (WS4) is a rare neural crest disorder defined by the combination of Waardenburg syndrome (sensorineural hearing loss and pigmentation defects) and Hirschsprung disease (intestinal aganglionosis). Three genes are known to be involved in this syndrome, that is, EDN3 (endothelin-3), EDNRB (endothelin receptor type B), and SOX10. However, 15-35% of WS4 remains unexplained at the molecular level, suggesting that other genes could be involved and/or that mutations within known genes may have escaped previous screenings. Here, we searched for deletions within recently identified SOX10 regulatory sequences and describe the first characterization of a WS4 patient presenting with a large deletion encompassing three of these enhancers. Analysis of the breakpoint region suggests a complex rearrangement involving three Alu sequences that could be mediated by a FosTes/MMBIR replication mechanism. Taken together with recent reports, our results demonstrate that the disruption of highly conserved non-coding elements located within or at a long distance from the coding sequences of key genes can result in several neurocristopathies. This opens up new routes to the molecular dissection of neural crest disorders.

The Ferredoxin-Like Proteins HydN and YsaA Enhance Redox Dye-Linked Activity of the Formate Dehydrogenase H Component of the Formate Hydrogenlyase Complex.

Science.gov (United States)

Pinske, Constanze

2018-01-01

Formate dehydrogenase H (FDH-H) and [NiFe]-hydrogenase 3 (Hyd-3) form the catalytic components of the hydrogen-producing formate hydrogenlyase (FHL) complex, which disproportionates formate to H 2 and CO 2 during mixed acid fermentation in enterobacteria. FHL comprises minimally seven proteins and little is understood about how this complex is assembled. Early studies identified a ferredoxin-like protein, HydN, as being involved in FDH-H assembly into the FHL complex. In order to understand how FDH-H and its small subunit HycB, which is also a ferredoxin-like protein, attach to the FHL complex, the possible roles of HydN and its paralogue, YsaA, in FHL complex stability and assembly were investigated. Deletion of the hycB gene reduced redox dye-mediated FDH-H activity to approximately 10%, abolished FHL-dependent H 2 -production, and reduced Hyd-3 activity. These data are consistent with HycB being an essential electron transfer component of the FHL complex. The FDH-H activity of the hydN and the ysaA deletion strains was reduced to 59 and 57% of the parental, while the double deletion reduced activity of FDH-H to 28% and the triple deletion with hycB to 1%. Remarkably, and in contrast to the hycB deletion, the absence of HydN and YsaA was without significant effect on FHL-dependent H 2 -production or total Hyd-3 activity; FDH-H protein levels were also unaltered. This is the first description of a phenotype for the E. coli ysaA deletion strain and identifies it as a novel factor required for optimal redox dye-linked FDH-H activity. A ysaA deletion strain could be complemented for FDH-H activity by hydN and ysaA , but the hydN deletion strain could not be complemented. Introduction of these plasmids did not affect H 2 production. Bacterial two-hybrid interactions showed that YsaA, HydN, and HycB interact with each other and with the FDH-H protein. Further novel anaerobic cross-interactions of 10 ferredoxin-like proteins in E. coli were also discovered and described

PCR detection of retinoblastoma gene deletions in radiation-induced mouse lung adenocarcinomas

International Nuclear Information System (INIS)

Churchill, M.E.; Gemmell, M.A.; Woloschak, G.E.

1994-01-01

From 1971--1986, Argonne National Laboratory conducted a series of large-scale studies of tumor incidence in 40,000 BCF 1 mice irradiated with 60 Co γ-rays or JANUS fission-spectrum neutrons. Polymerase chain reaction (PCR) technique was used to detect deletions in the mouse retinoblastoma (mRb) gene. Six mRb gene exon fragments were amplified in a 40-cycle, 3-temperature PCR protocol. Absence of any of these fragments on a Southern blot indicated a deletion of that portion of the mRb gene. Tumors chosen for analysis were lung adenocarcinomas that were judged to be the cause of death in post-mortem analyses. Spontaneous tumors as well as those from irradiated mice were analyzed for mRb deletions. In all normal mouse tissues studies all six mRb exon fragments were present on Southern blots. Tumors in six neutron-irradiated mice also had no mRb deletions. However, 1 of 6 tumors from γ-irradiated mice and 6 of 18 spontaneous tumors from unirradiated mice showed a deletion in one or both mRb alleles. All deletions detected were in the 5' region of the mRb gene

Large-scale deletions of the ABCA1 gene in patients with hypoalphalipoproteinemia.

Science.gov (United States)

Dron, Jacqueline S; Wang, Jian; Berberich, Amanda J; Iacocca, Michael A; Cao, Henian; Yang, Ping; Knoll, Joan; Tremblay, Karine; Brisson, Diane; Netzer, Christian; Gouni-Berthold, Ioanna; Gaudet, Daniel; Hegele, Robert A

2018-06-04

Copy-number variations (CNVs) have been studied in the context of familial hypercholesterolemia but have not yet been evaluated in patients with extremes of high-density lipoprotein (HDL) cholesterol levels. We evaluated targeted next-generation sequencing data from patients with very low HDL cholesterol (i.e. hypoalphalipoproteinemia) using the VarSeq-CNV caller algorithm to screen for CNVs disrupting the ABCA1, LCAT or APOA1 genes. In four individuals, we found three unique deletions in ABCA1: a heterozygous deletion of exon 4, a heterozygous deletion spanning exons 8 to 31, and a heterozygous deletion of the entire ABCA1 gene. Breakpoints were identified using Sanger sequencing, and the full-gene deletion was also confirmed using exome sequencing and the Affymetrix CytoScanTM HD Array. Before now, large-scale deletions in candidate HDL genes have not been associated with hypoalphalipoproteinemia; our findings indicate that CNVs in ABCA1 may be a previously unappreciated genetic determinant of low HDL cholesterol levels. By coupling bioinformatic analyses with next-generation sequencing data, we can successfully assess the spectrum of genetic determinants of many dyslipidemias, now including hypoalphalipoproteinemia. Published under license by The American Society for Biochemistry and Molecular Biology, Inc.

Genomic evidence of geographically widespread effect of gene flow from polar bears into brown bears.

Science.gov (United States)

Cahill, James A; Stirling, Ian; Kistler, Logan; Salamzade, Rauf; Ersmark, Erik; Fulton, Tara L; Stiller, Mathias; Green, Richard E; Shapiro, Beth

2015-03-01

Polar bears are an arctic, marine adapted species that is closely related to brown bears. Genome analyses have shown that polar bears are distinct and genetically homogeneous in comparison to brown bears. However, these analyses have also revealed a remarkable episode of polar bear gene flow into the population of brown bears that colonized the Admiralty, Baranof and Chichagof islands (ABC islands) of Alaska. Here, we present an analysis of data from a large panel of polar bear and brown bear genomes that includes brown bears from the ABC islands, the Alaskan mainland and Europe. Our results provide clear evidence that gene flow between the two species had a geographically wide impact, with polar bear DNA found within the genomes of brown bears living both on the ABC islands and in the Alaskan mainland. Intriguingly, while brown bear genomes contain up to 8.8% polar bear ancestry, polar bear genomes appear to be devoid of brown bear ancestry, suggesting the presence of a barrier to gene flow in that direction. © 2014 The Authors. Molecular Ecology Published by John Wiley & Sons Ltd.

Recurrence and Variability of Germline EPCAM Deletions in Lynch Syndrome

NARCIS (Netherlands)

Kuiper, Roland P.; Vissers, Lisenka E. L. M.; Venkatachalam, Ramprasath; Bodmer, Danielle; Hoenselaar, Eveline; Goossens, Monique; Haufe, Aline; Kamping, Eveline; Niessen, Renee C.; Hogervorst, Frans B. L.; Gille, Johan J. P.; Redeker, Bert; Tops, Carli M. J.; van Gijn, Marielle E.; van den Ouweland, Ans M. W.; Rahner, Nils; Steinke, Verena; Kahl, Philip; Holinski-Feder, Elke; Morak, Monika; Kloor, Matthias; Stemmler, Susanne; Betz, Beate; Hutter, Pierre; Bunyan, David J.; Syngal, Sapna; Culver, Julie O.; Graham, Tracy; Chan, Tsun L.; Nagtegaal, Iris D.; van Krieken, J. Han J. M.; Schackert, Hans K.; Hoogerbrugge, Nicoline; van Kessel, Ad Geurts; Ligtenberg, Marjolijn J. L.

Recently, we identified 3' end deletions in the EPCAM gene as a novel cause of Lynch syndrome. These truncating EPCAM deletions cause allele-specific epigenetic silencing of the neighboring DNA mismatch repair gene MSH2 in tissues expressing EPCAM. Here we screened a cohort of unexplained Lynch-like

Organic contaminants in thermal plume resident brown trout

International Nuclear Information System (INIS)

Romberg, G.P.; Bourne, S.

1978-01-01

A pilot study was conducted to identify possible contaminants accumulated by thermal plume-resident fish in Lake Michigan. Brown trout were maintained in tanks receiving intake and discharge (less than or equal to 21 0 C) water from a power plant and were fed a diet of frozen alewife. Fish were sampled over a period of 127 days in order to estimate uptake rates and equilibrium levels for toxic organic and inorganic materials occurring in Lake Michigan fish and water. Experimental fish and natural samples were analyzed to determine the distribution of contaminants in various tissues and the corresponding pollutant levels in similar size brown trout from Lake Michigan. The quantitative analyses for the major organic contaminants are summarized. Without exception, the pyloric caecum of brown trout contained the highest concentration of lipids, PCB's, and chlorinated pesticides. Gill and kidney samples contained lower concentrations of contaminants than the caecum, while liver and muscle values were lowest

Biallelic ATM alterations detected at diagnosis identify a subset of treatment-naïve chronic lymphocytic leukemia patients with reduced overall survival similar to patients with p53 deletion.

Science.gov (United States)

Lozano-Santos, Carol; García-Vela, José A; Pérez-Sanz, Nuria; Nova-Gurumeta, Sara; Fernandez-Cuevas, Belen; Gomez-Lozano, Natalia; Sánchez-Beato, Margarita; Sanchez-Godoy, Pedro; Bueno, José Luis; Garcia-Marco, José A

2017-04-01

The prognostic impact of biallelic ATM abnormalities (ATM mutation and concurrent 11q deletion) remains unknown. We studied ATM, BIRC3, SF3B1, and NOTCH1 genes in 118 treatment-naïve CLL patients at diagnosis. Patients with biallelic ATM alteration had a similar time to first treatment (TTFT) and shorter overall survival (OS) compared with patients with isolated 11q deletion and shorter TTFT and OS when compared to patients with wild-type ATM. Furthermore, biallelic ATM alteration (HR: 6.4; p ≤ 0.007) was significantly associated with an increased risk of death similar to p53 deletion (HR: 6.1; p ≤ 0.004), superior to 11q deletion alone (HR: 2.8; p ≤ 0.022) and independent of other significant parameters such as age, advanced clinical stage, and complex karyotype. Our results suggest the identification of ATM mutations in CLL patients with 11q deletion at diagnosis is clinically relevant and predicts disease progression, poor response to the treatment, and reduced OS independent of other molecular prognostic factors.

Genomic rearrangements by LINE-1 insertion-mediated deletion in the human and chimpanzee lineages.

Science.gov (United States)

Han, Kyudong; Sen, Shurjo K; Wang, Jianxin; Callinan, Pauline A; Lee, Jungnam; Cordaux, Richard; Liang, Ping; Batzer, Mark A

2005-01-01

Long INterspersed Elements (LINE-1s or L1s) are abundant non-LTR retrotransposons in mammalian genomes that are capable of insertional mutagenesis. They have been associated with target site deletions upon insertion in cell culture studies of retrotransposition. Here, we report 50 deletion events in the human and chimpanzee genomes directly linked to the insertion of L1 elements, resulting in the loss of approximately 18 kb of sequence from the human genome and approximately 15 kb from the chimpanzee genome. Our data suggest that during the primate radiation, L1 insertions may have deleted up to 7.5 Mb of target genomic sequences. While the results of our in vivo analysis differ from those of previous cell culture assays of L1 insertion-mediated deletions in terms of the size and rate of sequence deletion, evolutionary factors can reconcile the differences. We report a pattern of genomic deletion sizes similar to those created during the retrotransposition of Alu elements. Our study provides support for the existence of different mechanisms for small and large L1-mediated deletions, and we present a model for the correlation of L1 element size and the corresponding deletion size. In addition, we show that internal rearrangements can modify L1 structure during retrotransposition events associated with large deletions.

Conditional deletion of Pten causes bronchiolar hyperplasia.

Science.gov (United States)

Davé, Vrushank; Wert, Susan E; Tanner, Tiffany; Thitoff, Angela R; Loudy, Dave E; Whitsett, Jeffrey A

2008-03-01

Tumor suppressor phosphatase and tensin homolog deleted on chromosome 10 (PTEN) is a lipid phosphatase that regulates multiple cellular processes including cell polarity, migration, proliferation, and carcinogenesis. In this work, we demonstrate that conditional deletion of Pten (Pten(Delta/Delta)) in the respiratory epithelial cells of the developing mouse lung caused epithelial cell proliferation and hyperplasia as early as 4 to 6 weeks of age. While bronchiolar cell differentiation was normal, as indicated by beta-tubulin and FOXJ1 expression in ciliated cells and by CCSP expression in nonciliated cells, cell proliferation (detected by expression of Ki-67, phospho-histone-H3, and cyclin D1) was increased and associated with activation of the AKT/mTOR survival pathway. Deletion of Pten caused papillary epithelial hyperplasia characterized by a hypercellular epithelium lining papillae with fibrovascular cores that protruded into the airway lumens. Cell polarity, as assessed by subcellular localization of cadherin, beta-catenin, and zonula occludens-1, was unaltered. PTEN is required for regulation of epithelial cell proliferation in the lung and for the maintenance of the normal simple columnar epithelium characteristics of bronchi and bronchioles.

Impaired spermatogenesis and gr/gr deletions related to Y chromosome haplogroups in Korean men.

Directory of Open Access Journals (Sweden)

Jin Choi

Full Text Available Microdeletion of the Azoospermia Factor (AZF regions in Y chromosome is a well-known genetic cause of male infertility resulting from spermatogenetic impairment. However, the partial deletions of AZFc region related to spermatogenetic impairment are controversial. In this study, we characterized partial deletion of AZFc region in Korean patients with spermatogenetic impairment and assessed whether the DAZ and CDY1 contributes to the phenotype in patients with gr/gr deletions. Total of 377 patients with azoo-/oligozoospermia and 217 controls were analyzed using multiplex polymerase chain reaction (PCR, analysis of DAZ-CDY1 sequence family variants (SFVs, and quantitative fluorescent (QF-PCR. Of the 377 men with impaired spermatogenesis, 59 cases (15.6% had partial AZFc deletions, including 32 gr/gr (8.5%, 22 b2/b3 (5.8%, four b1/b3 (1.1% and one b3/b4 (0.3% deletion. In comparison, 14 of 217 normozoospermic controls (6.5% had partial AZFc deletions, including five gr/gr (2.3% and nine b2/b3 (4.1% deletions. The frequency of gr/gr deletions was significantly higher in the azoo-/oligozoospermic group than in the normozoospermic control group (p = 0.003; OR = 3.933; 95% CI = 1.509-10.250. Concerning Y haplogroup, we observed no significant differences in the frequency of gr/gr deletions between the case and the control groups in the YAP+ lineages, while gr/gr deletion were significantly higher in azoo-/oligozoospermia than normozoospermia in the YAP- lineage (p = 0.004; OR = 6.341; 95% CI = 1.472-27.312. Our data suggested that gr/gr deletion is associated with impaired spermatogenesis in Koreans with YAP- lineage, regardless of the gr/gr subtypes.

Study protocol for The Emory 3q29 Project: evaluation of neurodevelopmental, psychiatric, and medical symptoms in 3q29 deletion syndrome.

Science.gov (United States)

Murphy, Melissa M; Lindsey Burrell, T; Cubells, Joseph F; España, Roberto Antonio; Gambello, Michael J; Goines, Katrina C B; Klaiman, Cheryl; Li, Longchuan; Novacek, Derek M; Papetti, Ava; Sanchez Russo, Rossana Lucia; Saulnier, Celine A; Shultz, Sarah; Walker, Elaine; Mulle, Jennifer Gladys

2018-06-08

3q29 deletion syndrome is caused by a recurrent hemizygous 1.6 Mb deletion on the long arm of chromosome 3. The syndrome is rare (1 in 30,000 individuals) and is associated with mild to moderate intellectual disability, increased risk for autism and anxiety, and a 40-fold increased risk for schizophrenia, along with a host of physical manifestations. However, the disorder is poorly characterized, the range of manifestations is not well described, and the underlying molecular mechanism is not understood. We designed the Emory 3q29 Project to document the range of neurodevelopmental and psychiatric manifestations associated with 3q29 deletion syndrome. We will also create a biobank of samples from our 3q29 deletion carriers for mechanistic studies, which will be a publicly-available resource for qualified investigators. The ultimate goals of our study are three-fold: first, to improve management and treatment of 3q29 deletion syndrome. Second, to uncover the molecular mechanism of the disorder. Third, to enable cross-disorder comparison with other rare genetic syndromes associated with neuropsychiatric phenotypes. We will ascertain study subjects, age 6 and older, from our existing registry ( 3q29deletion.org ). Participants and their families will travel to Atlanta, GA for phenotypic assessments, with particular emphasis on evaluation of anxiety, cognitive ability, autism symptomatology, and risk for psychosis via prodromal symptoms and syndromes. Evaluations will be performed using standardized instruments. Structural, diffusion, and resting-state functional MRI data will be collected from eligible study participants. We will also collect blood from the 3q29 deletion carrier and participating family members, to be banked at the NIMH Repository and Genomics Resource (NRGR). The study of 3q29 deletion has the potential to transform our understanding of complex disease. Study of individuals with the deletion may provide insights into long term care and management of

An unsuccessful search for brown dwarf companions to white dwarf stars

Science.gov (United States)

Shipman, Harry L.

1986-01-01

The results of a survey to detect excess infrared emission from white dwarf stars which would be attributable to a low mass companion are reviewed. Neither a simple comparison of spectroscopically identified white dwarf stars with the IRAS Point Source Catalog nor the coadding of IRAS survey data resulted in a detection of a brown dwarf. The seven nearest stars where the most stringent limits to the presence of a brown dwarf were obtained are listed, and an effort to detect brown dwarfs in the solar neighborhood is discussed.

LC-MS Untargeted Metabolomics To Explain the Signal Metabolites Inducing Browning in Fresh-Cut Lettuce.

Science.gov (United States)

García, Carlos J; García-Villalba, Rocío; Gil, María I; Tomas-Barberan, Francisco A

2017-06-07

Enzymatic browning is one of the main causes of quality loss in lettuce as a prepared and ready-to-eat cut salad. An untargeted metabolomics approach using UPLC-ESI-QTOF-MS was performed to explain the wound response of lettuce after cutting and to identify the metabolites responsible of browning. Two cultivars of Romaine lettuce with different browning susceptibilities were studied at short time intervals after cutting. From the total 5975 entities obtained from the raw data after alignment, filtration reduced the number of features to 2959, and the statistical analysis found that only 1132 entities were significantly different. Principal component analysis (PCA) clearly showed that these samples grouped according to cultivar and time after cutting. From those, only 15 metabolites belonging to lysophospholipids, oxylipin/jasmonate metabolites, and phenolic compounds were able to explain the browning process. These selected metabolites showed different trends after cutting; some decreased rapidly, others increased but decreased thereafter, whereas others increased during the whole period of storage. In general, the fast-browning cultivar showed a faster wound response and a higher raw intensity of some key metabolites than the slow-browning one. Just after cutting, the fast-browning cultivar contained 11 of the 15 browning-associated metabolites, whereas the slow-browning cultivar only had 5 of them. These metabolites could be used as biomarkers in breeding programs for the selection of lettuce cultivars with lower browning potential for fresh-cut applications.

Coexistence of 9p Deletion Syndrome and Autism Spectrum Disorder

Science.gov (United States)

Günes, Serkan; Ekinci, Özalp; Ekinci, Nuran; Toros, Fevziye

2017-01-01

Deletion or duplication of the short arm of chromosome 9 may lead to a variety of clinical conditions including craniofacial and limb abnormalities, skeletal malformations, mental retardation, and autism spectrum disorder. Here, we present a case report of 5-year-old boy with 9p deletion syndrome and autism spectrum disorder.

Generating Bona Fide Mammalian Prions with Internal Deletions.

Science.gov (United States)

Munoz-Montesino, Carola; Sizun, Christina; Moudjou, Mohammed; Herzog, Laetitia; Reine, Fabienne; Chapuis, Jérôme; Ciric, Danica; Igel-Egalon, Angelique; Laude, Hubert; Béringue, Vincent; Rezaei, Human; Dron, Michel

2016-08-01

Mammalian prions are PrP proteins with altered structures causing transmissible fatal neurodegenerative diseases. They are self-perpetuating through formation of beta-sheet-rich assemblies that seed conformational change of cellular PrP. Pathological PrP usually forms an insoluble protease-resistant core exhibiting beta-sheet structures but no more alpha-helical content, loosing the three alpha-helices contained in the correctly folded PrP. The lack of a high-resolution prion structure makes it difficult to understand the dynamics of conversion and to identify elements of the protein involved in this process. To determine whether completeness of residues within the protease-resistant domain is required for prions, we performed serial deletions in the helix H2 C terminus of ovine PrP, since this region has previously shown some tolerance to sequence changes without preventing prion replication. Deletions of either four or five residues essentially preserved the overall PrP structure and mutant PrP expressed in RK13 cells were efficiently converted into bona fide prions upon challenge by three different prion strains. Remarkably, deletions in PrP facilitated the replication of two strains that otherwise do not replicate in this cellular context. Prions with internal deletion were self-propagating and de novo infectious for naive homologous and wild-type PrP-expressing cells. Moreover, they caused transmissible spongiform encephalopathies in mice, with similar biochemical signatures and neuropathologies other than the original strains. Prion convertibility and transfer of strain-specific information are thus preserved despite shortening of an alpha-helix in PrP and removal of residues within prions. These findings provide new insights into sequence/structure/infectivity relationship for prions. Prions are misfolded PrP proteins that convert the normal protein into a replicate of their own abnormal form. They are responsible for invariably fatal neurodegenerative

Cleanup at Browns Ferry 3

International Nuclear Information System (INIS)

Mitchell, Brad; Janvrin, R.W.

1995-01-01

When major work had to be done in the drywell of Browns Ferry 3, the utility, Tennessee Valley Authority (TVA), decided that it made sense to make it ''street clothes clean'' for workers. This not only made work easier, it saved time and millions of dollars. (author)

Histone deacetylase 3 prepares brown adipose tissue for acute thermogenic challenge

DEFF Research Database (Denmark)

Emmett, Matthew J.; Lim, Hee-Woong; Jager, Jennifer

2017-01-01

Brown adipose tissue is a thermogenic organ that dissipates chemical energy as heat to protect animals against hypothermia and to counteract metabolic disease1. However, the transcriptional mechanisms that determine the thermogenic capacity of brown adipose tissue before environmental cold...

Apple phenolics and their contribution to enzymatic browning reactions

Directory of Open Access Journals (Sweden)

Wiesław Oleszek

2014-01-01

Full Text Available Chlorogenic acid, epicatechin, procyanidin B2 and C1 were isolated from apple skin. These compounds as well as quercetine and phloretine glycosides isolated from apples were studied individually and as mixtures for their participation in the enzymatic browning reactions. The importance of quercetine glycosides and the synergistic effect of phloridzin and phloretine xyloglucoside with chlorogenic acid and flavans in the browning reaction are reported.

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.

Brown tumor of mandible with primary hyperparathyroidism

International Nuclear Information System (INIS)

Ali, S.K.; Khan, F.A.; Siddiq, A.; Hanif, M.S.

2011-01-01

Parathyroid hormone (PTH) is secreted and released by the parathyroid glands, the activity of which is controlled by the ionized serum calcium level. Increased PTH secretion results in hyperparathyroidism. Hyperparathyroidism is classified as primary, secondary and tertiary types. Primary hyperparathyroidism is characterized by increased parathyroid hormone secretion occurring as a result of abnormality in one or more of the parathyroid glands. Brown tumors are non-neoplastic lesions as a result of abnormal bone metabolism in cases of hyperparathyroidism, creating a local destructive phenomenon. A rare case of a young female patient with brown tumors in her mandible associated with primary hyperparathyroidism, is reported. (author)

Deletion of Core-binding factor β (Cbfβ) in mesenchymal progenitor cells provides new insights into Cbfβ/Runxs complex function in cartilage and bone development

Science.gov (United States)

Wu, Mengrui; Li, Chenguan; Zhu, Guochun; Wang, Yiping; Jules, Joel; Lu, Yun; McConnell, Matthew; Wang, Yong-Jun; Shao, Jian-Zhong; Li, Yi-Ping; Chen, Wei

2015-01-01

Core-binding factor β (Cbfβ) is a subunit of the Cbf family of heterodimeric transcription factors which plays a critical role in skeletal development through its interaction with the Cbfα subunits, also known as Runt-related transcription factors (Runxs). However, the mechanism by which Cbfβ regulates cartilage and bone development remains unclear. Existing Cbfβ-deficient mouse models cannot specify the role of Cbfβ in skeletal cell lineage. Herein, we sought to specifically address the role of Cbfβ in cartilage and bone development by using a conditional knockout (CKO) approach. A mesenchymal-specific Cbfβ CKO mouse model was generated by using the Dermo1-Cre mouse line to specifically delete Cbfβ in mesenchymal stem cells, which give rise to osteoblasts and chondrocytes. Surprisingly, the mutant mice had under-developed larynx and tracheal cartilage causing alveolus defects which led to death shortly after birth from suffocation. Also, the mutant mice exhibited severe skeletal deformities from defective intramembranous and endochondral ossification, owing to delayed chondrocyte maturation and impaired osteoblast differentiation. Almost all bones of the mutant mice, including the calvariae, vertebrae, tibiae, femurs, ribs, limbs and sternums were defective. Importantly, we showed that Cbfβ was expressed throughout the skeleton during both embryonic and postnatal development, which explains the multiple-skeletal defects observed in the mutant mice. Consistently, Cbfβ deficiency impaired both chondrocyte proliferation and hypertrophy zone hypertrophy during growth-plate development in the long bones of mutant mice. Notably, Cbfβ, Runx1 and Runx2 displayed different expression patterns in the growth plates of the wildtype mice indicating that Cbfβ/Runx1 complex and Cbfβ/Runx2 complex may regulate chondrocyte proliferation and hypertrophy, respectively, in a spatial and temporal manner. Cbfβ deletion in the mesenchymal progenitors impacted bone

22q13.3 Deletion Syndrome: An Underdiagnosed Cause of Mental Retardation

Directory of Open Access Journals (Sweden)

ilknur Erol

2015-03-01

Full Text Available Phelan-McDermid syndrome, also known as 22q13.3 deletion syndrome, is characterized by global developmental delay, absent or delayed speech, generalized hypotonia, and minor physical anomalies. The deletion typically involves the terminal band 22q13.3 and has been associated with both familial and de-novo translocations. We report the case of an 11-year-old Turkish girl with 22q13.3 deletion syndrome presenting with repeated seizures during the course of a rubella infection. We also review the clinical features of 22q13.3 deletion syndrome and emphasize the importance of considering a rare microdeletion syndrome for idiopathic mental retardation when results of a routine karyotype analysis are normal. To the best of our knowledge, this is the first reported case of a Turkish patient with isolated 22q13.3 deletion syndrome. [Cukurova Med J 2015; 40(1.000: 169-173

Size unlimited markerless deletions by a transconjugative plasmid-system in Bacillus licheniformis.

Science.gov (United States)

Rachinger, Michael; Bauch, Melanie; Strittmatter, Axel; Bongaerts, Johannes; Evers, Stefan; Maurer, Karl-Heinz; Daniel, Rolf; Liebl, Wolfgang; Liesegang, Heiko; Ehrenreich, Armin

2013-09-20

Conjugative shuttle vectors of the pKVM series, based on an IncP transfer origin and the pMAD vector with a temperature sensitive replication were constructed to establish a markerless gene deletion protocol for Bacilli without natural competence such as the exoenzyme producer Bacillus licheniformis. The pKVM plasmids can be conjugated to strains of B. licheniformis and B. subtilis. For chromosomal gene deletion, regions flanking the target gene are fused and cloned in a pKVM vector prior to conjugative transfer from Escherichia coli to B. licheniformis. Appropriate markers on the vector backbone allow for the identification of the integration at the target locus and thereafter the vector excision, both events taking place via homologous recombination. The functionality of the deletion system was demonstrated with B. licheniformis by a markerless 939 bp in-frame deletion of the yqfD gene and the deletion of a 31 kbp genomic segment carrying a PBSX-like prophage. Copyright © 2013 Elsevier B.V. All rights reserved.

Multi-exon deletions of the FBN1 gene in Marfan syndrome

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Schrijver Iris

2001-10-01

Full Text Available Abstract Background Mutations in the fibrillin -1 gene (FBN1 cause Marfan syndrome (MFS, an autosomal dominant multi-system connective tissue disorder. The 200 different mutations reported in the 235 kb, 65 exon-containing gene include only one family with a genomic multi-exon deletion. Methods We used long-range RT-PCR for mutation detection and long-range genomic PCR and DNA sequencing for identification of deletion breakpoints, allele-specific transcript analyses to determine stability of the mutant RNA, and pulse-chase studies to quantitate fibrillin synthesis and extracellular matrix deposition in cultured fibroblasts. Southern blots of genomic DNA were probed with three overlapping fragments covering the FBN1 coding exons Results Two novel multi-exon FBN1 deletions were discovered. Identical nucleotide pentamers were found at or near the intronic breakpoints. In a Case with classic MFS, an in-frame deletion of exons 42 and 43 removed the C-terminal 24 amino acids of the 5th LTBP (8-cysteine domain and the adjacent 25th calcium-binding EGF-like (6-cysteine domain. The mutant mRNA was stable, but fibrillin synthesis and matrix deposition were significantly reduced. A Case with severe childhood-onset MFS has a de novo deletion of exons 44–46 that removed three EGF-like domains. Fibrillin protein synthesis was normal, but matrix deposition was strikingly reduced. No genomic rearrangements were detected by Southern analysis of 18 unrelated MFS samples negative for FBN1 mutation screening. Conclusions Two novel deletion cases expand knowledge of mutational mechanisms and genotype/phenotype correlations of fibrillinopathies. Deletions or mutations affecting an LTBP domain may result in unstable mutant protein cleavage products that interfere with microfibril assembly.

Association between F508 deletion in CFTR and chronic pancreatitis risk.

Science.gov (United States)

Zhao, Dong; Xu, Yanzhen; Li, Jiatong; Fu, Shien; Xiao, Feifan; Song, Xiaowei; Xie, Zhibin; Jiang, Min; He, Yan; Liu, Chengwu; Wen, Qiongxian; Yang, Xiaoli

2017-09-01

The cystic fibrosis transmembrane conductance regulator (CFTR) has been reported to influence individual susceptibility to chronic pancreatitis (CP), but the results of previous studies are controversial. We performed a study to demonstrate the relationship between CFTR and CP. We searched PubMed, Scopus, and Embase for studies of patients with CP. Seven studies from 1995 to 2016 were identified, and included 64,832 patients. Pooled prevalence and 95% confidence intervals (CIs) were calculated. F508 deletion in CFTR was significantly positively associated with CP risk in the overall analysis (odds ratio [OR]=3.20, 95% CI: 2.30-4.44, I 2 =31.7%). In subgroup analysis stratified by ethnicity, F508 deletion was significantly associated with CP risk in Indian populations, using a fixed effects model (ORs=5.45, 95% CI: 2.52-11.79, I 2 =0.0%), and in non-Indian populations, using a random effects model (ORs=3.59, 95% CI: 1.73-7.48, I 2 =60.9%). At the same time, we found that Indians with F508 deletion had much higher CP prevalence than non-Indians. Interestingly, F508 deletion was also associated with CP and idiopathic CP risk in subgroup analysis stratified by aeitiology, using the fixed effects model. Based on current evidence, F508 deletion is a risk factor for CP, and Indians with F508 deletion have much higher CP morbidity. Copyright © 2017 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

Linguistic and Psychomotor Development in Children with Chromosome 14 Deletions

Science.gov (United States)

Zampini, Laura; D'Odorico, Laura; Zanchi, Paola; Zollino, Marcella; Neri, Giovanni

2012-01-01

The present study focussed on a specific type of rare genetic condition: chromosome 14 deletions. Children with this genetic condition often show developmental delays and brain and neurological problems, although the type and severity of symptoms varies depending on the size and location of the deleted genetic material. The specific aim of the…

A Dense Brown Trout (Salmo trutta) Linkage Map Reveals Recent Chromosomal Rearrangements in the Salmo Genus and the Impact of Selection on Linked Neutral Diversity

Science.gov (United States)

Leitwein, Maeva; Guinand, Bruno; Pouzadoux, Juliette; Desmarais, Erick; Berrebi, Patrick; Gagnaire, Pierre-Alexandre

2017-01-01

High-density linkage maps are valuable tools for conservation and eco-evolutionary issues. In salmonids, a complex rediploidization process consecutive to an ancient whole genome duplication event makes linkage maps of prime importance for investigating the evolutionary history of chromosome rearrangements. Here, we developed a high-density consensus linkage map for the brown trout (Salmo trutta), a socioeconomically important species heavily impacted by human activities. A total of 3977 ddRAD markers were mapped and ordered in 40 linkage groups using sex- and lineage-averaged recombination distances obtained from two family crosses. Performing map comparison between S. trutta and its sister species, S. salar, revealed extensive chromosomal rearrangements. Strikingly, all of the fusion and fission events that occurred after the S. salar/S. trutta speciation happened in the Atlantic salmon branch, whereas the brown trout remained closer to the ancestral chromosome structure. Using the strongly conserved synteny within chromosome arms, we aligned the brown trout linkage map to the Atlantic salmon genome sequence to estimate the local recombination rate in S. trutta at 3721 loci. A significant positive correlation between recombination rate and within-population nucleotide diversity (π) was found, indicating that selection constrains variation at linked neutral sites in brown trout. This new high-density linkage map provides a useful genomic resource for future aquaculture, conservation, and eco-evolutionary studies in brown trout. PMID:28235829

A Dense Brown Trout (Salmo trutta Linkage Map Reveals Recent Chromosomal Rearrangements in the Salmo Genus and the Impact of Selection on Linked Neutral Diversity

Directory of Open Access Journals (Sweden)

Maeva Leitwein

2017-04-01

Full Text Available High-density linkage maps are valuable tools for conservation and eco-evolutionary issues. In salmonids, a complex rediploidization process consecutive to an ancient whole genome duplication event makes linkage maps of prime importance for investigating the evolutionary history of chromosome rearrangements. Here, we developed a high-density consensus linkage map for the brown trout (Salmo trutta, a socioeconomically important species heavily impacted by human activities. A total of 3977 ddRAD markers were mapped and ordered in 40 linkage groups using sex- and lineage-averaged recombination distances obtained from two family crosses. Performing map comparison between S. trutta and its sister species, S. salar, revealed extensive chromosomal rearrangements. Strikingly, all of the fusion and fission events that occurred after the S. salar/S. trutta speciation happened in the Atlantic salmon branch, whereas the brown trout remained closer to the ancestral chromosome structure. Using the strongly conserved synteny within chromosome arms, we aligned the brown trout linkage map to the Atlantic salmon genome sequence to estimate the local recombination rate in S. trutta at 3721 loci. A significant positive correlation between recombination rate and within-population nucleotide diversity (π was found, indicating that selection constrains variation at linked neutral sites in brown trout. This new high-density linkage map provides a useful genomic resource for future aquaculture, conservation, and eco-evolutionary studies in brown trout.

Biosynthetic potential of actinomycetes in brown forest soil on the eastern coast of the aegean sea

Science.gov (United States)

Shirokikh, I. G.; Shirokikh, A. A.

2017-11-01

The taxonomic and functional structures of the actinomycetal complex in the litter and upper horizon of the brown forest soil was studied in a Pinus brutia var. pendulifolia forest on the eastern coast of the Aegean Sea. The complex of actinomycetes included representatives of the Streptomyces and Micromonospora genera and oligosporus forms. Streptomycetes predominated (73.8%) in the soil, and micromonospores (66.7%) were dominants in the litter. Thirty isolates of ten Streptomyces species from five series and three sections prevailed. In the upper soil horizon, species of the Helvolo-Flavus Helvolus section predominated (48%); the S. felleus species occurred most frequently. Among the isolated cultures, the S. globisporus and S. sindenensis species capable to produce antitumor antibiotics were found. The testing of the antimicrobial activity of the natural isolates showed that five strains inhibit the growth of pathogenic Fusarium sp., Alternaria sp., Acremonium sp., and Bipolaris sorokiniana fungi. When testing the effect of streptomycetes on the production of cellulases, a high-efficient strain belonging to the S. noboritoensis species was revealed. All the streptomycetes isolated from the brown forest soil produced auxins at the rate of 7.8 to 19.7 μg of indole acetic acid/mL of the liquid medium in the presence of 200 mg/L of tryptophan. Twelve isolates of streptomycetes were transferred to the collection of biotechnologically promising cultures for studying their properties.

Consortial brown tide - picocyanobacteria blooms in Guantánamo Bay, Cuba.

Science.gov (United States)

Hall, Nathan S; Litaker, R Wayne; Kenworthy, W Judson; Vandersea, Mark W; Sunda, William G; Reid, James P; Slone, Daniel H; Butler, Susan

2018-03-01

A brown tide bloom of Aureoumbra lagunensis developed in Guantánamo Bay, Cuba during a period of drought in 2013 that followed heavy winds and rainfall from Hurricane Sandy in late October 2012. Based on satellite images and water turbidity measurements, the bloom appeared to initiate in January 2013. The causative species (A. lagunensis) was confirmed by microscopic observation, and pigment and genetic analyses of bloom samples collected on May 28 of that year. During that time, A. lagunensis reached concentrations of 900,000 cells ml -1 (28 ppm by biovolume) in the middle portion of the Bay. Samples could not be collected from the northern (Cuban) half of the Bay because of political considerations. Subsequent sampling of the southern half of the Bay in November 2013, April 2014, and October 2014 showed persistent lower concentrations of A. lagunensis, with dominance shifting to the cyanobacterium Synechococcus (up to 33 ppm in April), an algal group that comprised a minor bloom component on May 28. Thus, unlike the brown tide bloom in Laguna Madre, which lasted 8 years, the bloom in Guantánamo Bay was short-lived, much like recent blooms in the Indian River, Florida. Although hypersaline conditions have been linked to brown tide development in the lagoons of Texas and Florida, observed euhaline conditions in Guantánamo Bay (salinity 35-36) indicate that strong hypersalinity is not a requirement for A. lagunensis bloom formation. Microzooplankton biomass dominated by ciliates was high during the observed peak of the brown tide, and ciliate abundance was high compared to other systems not impacted by brown tide. Preferential grazing by zooplankton on non-brown tide species, as shown in A. lagunensis blooms in Texas and Florida, may have been a factor in the development of the Cuban brown tide bloom. However, subsequent selection of microzooplankton capable of utilizing A. lagunensis as a primary food source may have contributed to the short-lived duration

Molecular and cytogenetic investigation of Y chromosome deletions over three generations facilitated by intracytoplasmic sperm injection.

Science.gov (United States)

Minor, Agata; Wong, Edgar Chan; Harmer, Karynn; Ma, Sai

2007-08-01

The azoospermic factor (AZF) region is critical for normal spermatogenesis since microdeletions and partial deletions have been associated with infertility. We investigate the diagnostic ability of karyotyping in detecting clinically relevant Y chromosome deletions. The clinical significance of heterochromatin deletions, microdeletions and partial AZFc deletions is also evaluated. A patient with a Yq deletion, affected by severe oligoasthenoteratozoospermia, underwent intracytoplasmic sperm injection (ICSI) which resulted in the birth of a healthy baby boy. The patient, his father and his son underwent Y chromosome microdeletion and partial AZFc deletion screening. We also studied the aneuploidy rate in the sperm of the patient by fluorescent in situ hybridization. AZF microdeletions were absent in the family. However, microdeletion analysis confirmed that the Yq deletion was limited to the heterochromatin. We found a partial AZFc gr/gr deletion in all three family members. We observed an increased rate of sex chromosome aneuploidy in the infertile patient. Cytogenetic analysis was misleading in identifying the Yq breakpoint. Infertility observed in the patient was associated with the gr/gr partial deletion. However, because of the incomplete penetrance of gr/gr deletions, the consequence of the vertical transmission of the deletion through ICSI remains unknown. Copyright (c) 2007 John Wiley & Sons, Ltd.

Diversity and phylogeography of Northeast Asian brown frogs allied to Rana dybowskii (Anura, Ranidae).

Science.gov (United States)

Yang, Bao-Tian; Zhou, Yu; Min, Mi-Sook; Matsui, Masafumi; Dong, Bing-Jun; Li, Pi-Peng; Fong, Jonathan J

2017-07-01

We investigated the species diversity and phylogeography of the Northeast Asian brown frogs allied to Rana dybowskii (the R. dybowskii species complex: R. dybowskii, R. pirica, and R. uenoi) using four mitochondrial and three nuclear loci. Phylogenetic analyses confirmed the existence of three distinct species in this complex; using extensive molecular data, we confirm the validity of Rana uenoi recognized as a distinct species, and infer R. dybowskii and R. pirica to be sister species. Also, we included populations from previously unsampled regions in Northeast China, and identified them to be R. dybowskii. While many species in Northeast Asia diverged due to Pleistocene glaciation, divergence-dating analyses inferred older, Miocene speciation in the R. dybowskii species complex. Ancestral area reconstruction identified the orogenic movement of the Changbai Mountain Range and the opening of the Sea of Japan/East Sea being major events influencing allopatric speciation. Copyright © 2017 Elsevier Inc. All rights reserved.

The generation of chromosomal deletions to provide extensive coverage and subdivision of the Drosophila melanogaster genome.

Science.gov (United States)

Cook, R Kimberley; Christensen, Stacey J; Deal, Jennifer A; Coburn, Rachel A; Deal, Megan E; Gresens, Jill M; Kaufman, Thomas C; Cook, Kevin R

2012-01-01

Chromosomal deletions are used extensively in Drosophila melanogaster genetics research. Deletion mapping is the primary method used for fine-scale gene localization. Effective and efficient deletion mapping requires both extensive genomic coverage and a high density of molecularly defined breakpoints across the genome. A large-scale resource development project at the Bloomington Drosophila Stock Center has improved the choice of deletions beyond that provided by previous projects. FLP-mediated recombination between FRT-bearing transposon insertions was used to generate deletions, because it is efficient and provides single-nucleotide resolution in planning deletion screens. The 793 deletions generated pushed coverage of the euchromatic genome to 98.4%. Gaps in coverage contain haplolethal and haplosterile genes, but the sizes of these gaps were minimized by flanking these genes as closely as possible with deletions. In improving coverage, a complete inventory of haplolethal and haplosterile genes was generated and extensive information on other haploinsufficient genes was compiled. To aid mapping experiments, a subset of deletions was organized into a Deficiency Kit to provide maximal coverage efficiently. To improve the resolution of deletion mapping, screens were planned to distribute deletion breakpoints evenly across the genome. The median chromosomal interval between breakpoints now contains only nine genes and 377 intervals contain only single genes. Drosophila melanogaster now has the most extensive genomic deletion coverage and breakpoint subdivision as well as the most comprehensive inventory of haploinsufficient genes of any multicellular organism. The improved selection of chromosomal deletion strains will be useful to nearly all Drosophila researchers.

No evidence for the effect of MHC on male mating success in the brown bear.

Science.gov (United States)

Kuduk, Katarzyna; Babik, Wieslaw; Bellemain, Eva; Valentini, Alice; Zedrosser, Andreas; Taberlet, Pierre; Kindberg, Jonas; Swenson, Jon E; Radwan, Jacek

2014-01-01

Mate choice is thought to contribute to the maintenance of the spectacularly high polymorphism of the Major Histocompatibility Complex (MHC) genes, along with balancing selection from parasites, but the relative contribution of the former mechanism is debated. Here, we investigated the association between male MHC genotype and mating success in the brown bear. We analysed fragments of sequences coding for the peptide-binding region of the highly polymorphic MHC class I and class II DRB genes, while controlling for genome-wide effects using a panel of 18 microsatellite markers. Male mating success did not depend on the number of alleles shared with the female or amino-acid distance between potential mates at either locus. Furthermore, we found no indication of female mating preferences for MHC similarity being contingent on the number of alleles the females carried. Finally, we found no significant association between the number of MHC alleles a male carried and his mating success. Thus, our results provided no support for the role of mate choice in shaping MHC polymorphism in the brown bear.

Exploration of the brown dwarf regime around solar-like stars by CoRoT

OpenAIRE

Csizmadia, Szilárd

2016-01-01

Aims. A summary of the CoRoT brown dwarf investigations are presented. Methods. Transiting brown dwarfs around solar like stars were studied by using the photometric time-series of CoRoT, and ground based radial velocity measurements. Results. CoRoT detected three transiting brown dwarfs around F and G dwarf stars. The occurence rate of brown dwarfs was found to be 0.20 +/- 0.15% around solar-like stars which is compatible with the value obtained by Kepler-data.

Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region.

Science.gov (United States)

Gatta, Valentina; Palka, Chiara; Chiavaroli, Valentina; Franchi, Sara; Cannataro, Giovanni; Savastano, Massimo; Cotroneo, Antonio Raffaele; Chiarelli, Francesco; Mohn, Angelika; Stuppia, Liborio

2014-07-23

SHOX alterations have been reported in 67% of patients affected by Léri-Weill dyschondrosteosis (LWD), with a larger prevalence of gene deletions than point mutations. It has been recently demonstrated that these deletions can involve the SHOX enhancer region, rather that the coding region, with variable phenotype of the affected patients.Here, we report a SHOX gene analysis carried out by MLPA in 14 LWD patients from 4 families with variable phenotype. All patients presented a SHOX enhancer deletion. In particular, a patient with a severe bilateral Madelung deformity without short stature showed a homozygous alteration identical to the recently described 47.5 kb PAR1 deletion. Moreover, we identified, for the first time, in three related patients with a severe bilateral Madelung deformity, a smaller deletion than the 47.5 kb PAR1 deletion encompassing the same enhancer region (ECR1/CNE7). Data reported in this study provide new information about the spectrum of phenotypic alterations showed by LWD patients with different deletions of the SHOX enhancer region.

Enzymatic oxalic acid regulation correlated with wood degradation in four brown-rot fungi

Science.gov (United States)

Anne Christine Steenkjær Hastrup; Frederick Green III; Patricia K. Lebow; Bo Jensen

2012-01-01

Oxalic acid is a key component in the initiation of brown-rot decay and it has been suggested that it plays multiple roles during the degradation process. Oxalic acid is accumulated to varying degrees among brown-rot fungi; however, details on active regulation are scarce. The accumulation of oxalic acid was measured in this study from wood degraded by the four brown-...

Role of ascorbic acid in the inhibition of polyphenol oxidase and the prevention of browning in different browning-sensitive Lactuca sativa var. capitata (L.) and Eruca sativa (Mill.) stored as fresh-cut produce.

Science.gov (United States)

Landi, Marco; Degl'Innocenti, Elena; Guglielminetti, Lorenzo; Guidi, Lucia

2013-06-01

Polyphenol oxidase (PPO) and, to a minor extent, peroxidase (POD) represent the key enzymes involved in enzymatic browning, a negative process induced by cutting fresh-cut produce such as lettuce (Lactuca sativa) and rocket salad (Eruca sativa). Although ascorbic acid is frequently utilised as an anti-browning agent, its mechanism in the prevention of the browning phenomenon is not clearly understood. The activity of PPO and POD and their isoforms in lettuce (a high-browning and low-ascorbic acid species) and rocket salad (a low-browning and high-ascorbic species) was characterised. The kinetic parameters of PPO and in vitro ascorbic acid-PPO inhibition were also investigated. In rocket salad, PPO activity was much lower than that in lettuce and cutting induced an increase in PPO activity only in lettuce. Exogenous ascorbic acid (5 mmol L(-1)) reduced PPO activity by about 90% in lettuce. POD did not appear to be closely related to browning in lettuce. PPO is the main enzyme involved in the browning phenomenon; POD appears to play a minor role. The concentration of endogenous ascorbic acid in rocket salad was related to its low-browning sensitivity after cutting. In lettuce, the addition of ascorbic acid directly inhibited PPO activity. The results suggest that the high ascorbic acid content found in rocket salad plays an effective role in reducing PPO activity. © 2012 Society of Chemical Industry.

The ectomycorrhizal fungus Paxillus involutus converts organic matter in plant litter using a trimmed brown-rot mechanism involving Fenton chemistry

DEFF Research Database (Denmark)

Rineau, Francois; Roth, Doris; Shah, Firoz

2012-01-01

chemistry similar to that of brown-rot fungi. The set of enzymes expressed by Pa. involutus during the degradation of the organic matter was similar to the set of enzymes involved in the oxidative degradation of wood by brown-rot fungi. However, Pa. involutus lacked transcripts encoding extracellular...... the mycorrhizal fungi. To capture the nitrogen, the fungi must at least partly disrupt the recalcitrant organic matterprotein complexes within which the nitrogen is embedded. This disruption process is poorly characterized. We used spectroscopic analyses and transcriptome profiling to examine the mechanism...... by which the ectomycorrhizal fungus Paxillus involutus degrades organic matter when acquiring nitrogen from plant litter. The fungus partially degraded polysaccharides and modified the structure of polyphenols. The observed chemical changes were consistent with a hydroxyl radical attack, involving Fenton...

Controlled cellular energy conversion in brown adipose tissue thermogenesis

Science.gov (United States)

Horowitz, J. M.; Plant, R. E.

1978-01-01

Brown adipose tissue serves as a model system for nonshivering thermogenesis (NST) since a) it has as a primary physiological function the conversion of chemical energy to heat; and b) preliminary data from other tissues involved in NST (e.g., muscle) indicate that parallel mechanisms may be involved. Now that biochemical pathways have been proposed for brown fat thermogenesis, cellular models consistent with a thermodynamic representation can be formulated. Stated concisely, the thermogenic mechanism in a brown fat cell can be considered as an energy converter involving a sequence of cellular events controlled by signals over the autonomic nervous system. A thermodynamic description for NST is developed in terms of a nonisothermal system under steady-state conditions using network thermodynamics. Pathways simulated include mitochondrial ATP synthesis, a Na+/K+ membrane pump, and ionic diffusion through the adipocyte membrane.

The detection of large deletions or duplications in genomic DNA.

Science.gov (United States)

Armour, J A L; Barton, D E; Cockburn, D J; Taylor, G R

2002-11-01

While methods for the detection of point mutations and small insertions or deletions in genomic DNA are well established, the detection of larger (>100 bp) genomic duplications or deletions can be more difficult. Most mutation scanning methods use PCR as a first step, but the subsequent analyses are usually qualitative rather than quantitative. Gene dosage methods based on PCR need to be quantitative (i.e., they should report molar quantities of starting material) or semi-quantitative (i.e., they should report gene dosage relative to an internal standard). Without some sort of quantitation, heterozygous deletions and duplications may be overlooked and therefore be under-ascertained. Gene dosage methods provide the additional benefit of reporting allele drop-out in the PCR. This could impact on SNP surveys, where large-scale genotyping may miss null alleles. Here we review recent developments in techniques for the detection of this type of mutation and compare their relative strengths and weaknesses. We emphasize that comprehensive mutation analysis should include scanning for large insertions and deletions and duplications. Copyright 2002 Wiley-Liss, Inc.

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.

Science.gov (United States)

Heinzen, Erin L; Radtke, Rodney A; Urban, Thomas J; Cavalleri, Gianpiero L; Depondt, Chantal; Need, Anna C; Walley, Nicole M; Nicoletti, Paola; Ge, Dongliang; Catarino, Claudia B; Duncan, John S; Kasperaviciūte, Dalia; Tate, Sarah K; Caboclo, Luis O; Sander, Josemir W; Clayton, Lisa; Linney, Kristen N; Shianna, Kevin V; Gumbs, Curtis E; Smith, Jason; Cronin, Kenneth D; Maia, Jessica M; Doherty, Colin P; Pandolfo, Massimo; Leppert, David; Middleton, Lefkos T; Gibson, Rachel A; Johnson, Michael R; Matthews, Paul M; Hosford, David; Kälviäinen, Reetta; Eriksson, Kai; Kantanen, Anne-Mari; Dorn, Thomas; Hansen, Jörg; Krämer, Günter; Steinhoff, Bernhard J; Wieser, Heinz-Gregor; Zumsteg, Dominik; Ortega, Marcos; Wood, Nicholas W; Huxley-Jones, Julie; Mikati, Mohamad; Gallentine, William B; Husain, Aatif M; Buckley, Patrick G; Stallings, Ray L; Podgoreanu, Mihai V; Delanty, Norman; Sisodiya, Sanjay M; Goldstein, David B

2010-05-14

Deletions at 16p13.11 are associated with schizophrenia, mental retardation, and most recently idiopathic generalized epilepsy. To evaluate the role of 16p13.11 deletions, as well as other structural variation, in epilepsy disorders, we used genome-wide screens to identify copy number variation in 3812 patients with a diverse spectrum of epilepsy syndromes and in 1299 neurologically-normal controls. Large deletions (> 100 kb) at 16p13.11 were observed in 23 patients, whereas no control had a deletion greater than 16 kb. Patients, even those with identically sized 16p13.11 deletions, presented with highly variable epilepsy phenotypes. For a subset of patients with a 16p13.11 deletion, we show a consistent reduction of expression for included genes, suggesting that haploinsufficiency might contribute to pathogenicity. We also investigated another possible mechanism of pathogenicity by using hybridization-based capture and next-generation sequencing of the homologous chromosome for ten 16p13.11-deletion patients to look for unmasked recessive mutations. Follow-up genotyping of suggestive polymorphisms failed to identify any convincing recessive-acting mutations in the homologous interval corresponding to the deletion. The observation that two of the 16p13.11 deletions were larger than 2 Mb in size led us to screen for other large deletions. We found 12 additional genomic regions harboring deletions > 2 Mb in epilepsy patients, and none in controls. Additional evaluation is needed to characterize the role of these exceedingly large, non-locus-specific deletions in epilepsy. Collectively, these data implicate 16p13.11 and possibly other large deletions as risk factors for a wide range of epilepsy disorders, and they appear to point toward haploinsufficiency as a contributor to the pathogenicity of deletions. Copyright (c) 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Blood glucose lowering effects of brown rice in normal and diabetic subjects.

Science.gov (United States)

Panlasigui, Leonora N; Thompson, Lilian U

2006-01-01

Carbohydrate foods, which produce low glycemic responses, have been shown to be beneficial in the dietary management of chronic diseases such as diabetes and hyperlipidemia. This study determined the starch digestion rate in vitro and, in a randomised crossover design, the postprandial blood glucose response of 10 healthy and nine type 2 diabetic volunteers to brown rice compared to milled rice from the same batch and variety. The total sugar released in vitro was 23.7% lower in brown rice than in milled rice. In healthy volunteers, the glycemic area and glycemic index were, respectively, 19.8% and 12.1% lower (p brown rice than milled rice, while in diabetics, the respective values were 35.2% and 35.6% lower. The effect was partly due to the higher amounts of phytic acid, polyphenols, dietary fiber and oil in brown compared to milled rice and the difference in some physicochemical properties of the rice samples such as minimum cooking time and degree of gelatinisation. In conclusion, brown rice is a more health beneficial food for diabetics and hyperglycemic individuals than milled rice.

Deletion Mutagenesis and Identification of Causative Mutations in Maize.

Science.gov (United States)

Jia, Shangang; Li, Aixia; Zhang, Chi; Holding, David

2018-01-01

We describe a method for gamma-irradiation of mature maize seeds to generate mutants with opaque endosperm and reduced kernel fill phenotypes. We also describe methods for mapping mutants and identifying causal gene mutations. Using this method, a population of 1788M2 families and 47 Mo17 × F2s showing stable, segregating, and viable kernel phenotypes was developed. For molecular characterization of the mutants, we utilized a novel functional genomics platform that combines separate Bulked Segregant RNA and exome sequencing data sets (BSREx-seq) to map causative mutations and identify candidate genes within mapping intervals. We also describe the use of exome capture sequencing of F2 mutant and normal pools to perform mapping and candidate gene identification without the need for separate RNA-seq (BSEx-seq). To exemplify the utility of the deletion mutants for functional genomics and provide proof-of-concept for the bioinformatics platform, we summarize the identification of the causative deletion in two mutants. Mutant 937, which was characterized by BSREx-seq, harbors a 6203-bp in-frame deletion covering six exons within the Opaque-1 gene on chromosome 4. Preliminary investigation of opaque mutant 1486 with BSEx-seq shows a tight mapping interval and associated deletion on chromosome 10.

ASYMMETRIC EFFECTS OF ADDED VERSUS DELETED FEATURE OF STIMULUS ON RECOGNITION MEMORY

OpenAIRE

内野, 八潮; 箱田, 裕司

2000-01-01

This article reviewed a number of studies which revealed superiority of addition over deletion. Such an asymmetric effect was found in picture recognitioa memory, discrimination learning, proofreading for misspellings and so on. However, few studies have controlled typicality of original stimulus or the effect of addition and deletion on typicality of changed stimulus. Therefore this article focussed particularly on the studies in which addition and deletion applied to original stimulus was d...

Utilization of a major brown rust resistance gene in sugarcane breeding

Science.gov (United States)

Brown rust, caused by Puccinia melanocephala has had devastating effects on sugarcane (Saccharum spp.) breeding programs and on commercial production. The discovery of Bru1, a major gene conferring resistance to brown rust represented a substantial breakthrough and markers for the detection of Bru1 ...

Brown Coal Dewatering Using Poly (Acrylamide-Co-Potassium Acrylic Based Super Absorbent Polymers

Directory of Open Access Journals (Sweden)

Sheila Devasahayam

2015-09-01

Full Text Available With the rising cost of energy and fuel oils, clean coal technologies will continue to play an important role during the transition to a clean energy future. Victorian brown coals have high oxygen and moisture contents and hence low calorific value. This paper presents an alternative non evaporative drying technology for high moisture brown coals based on osmotic dewatering. This involves contacting and mixing brown coal with anionic super absorbent polymers (SAP which are highly crossed linked synthetic co-polymers based on a cross-linked copolymer of acryl amide and potassium acrylate. The paper focuses on evaluating the water absorption potential of SAP in contact with 61% moisture Loy Yang brown coal, under varying SAP dosages for different contact times and conditions. The amount of water present in Loy Yang coal was reduced by approximately 57% during four hours of SAP contact. The extent of SAP brown coal drying is directly proportional to the SAP/coal weight ratio. It is observed that moisture content of fine brown coal can readily be reduced from about 59% to 38% in four hours at a 20% SAP/coal ratio.

The role of innate immunity in the regulation of brown and beige adipogenesis.

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Alexaki, Vasileia Ismini; Chavakis, Triantafyllos

2016-03-01

The adipose tissue (AT) is multifunctional, acting as an endocrine tissue and participating in the regulation of the organism's homeostasis. Metabolic, endocrine and inflammatory mechanisms are tightly intertwined within the AT, regulating its function. Disruption of the equilibrium among these mechanisms leads to pathologies, the most common being obesity-related insulin resistance. Two types of AT exist, the white and the brown AT. Traditionally the white AT (WAT) was thought to store energy in the form of lipids, while the brown AT (BAT) was known to mediate heat generation. Recently, the 'brite' or 'beige' AT was identified, which is localized predominantly in subcutaneous WAT, but shares functional features with the BAT and is capable of heat production. The major stimulus triggering beige and brown adipogenesis is cold exposure and catecholamine signalling. However, several further signals and mechanisms exist, which can orchestrate and fine-tune beige and brown AT function. Immune cells and inflammation have emerged as regulators of beige and brown AT function. The present review will focus on the recently identified crosstalk between innate immunity and the regulation of beige and brown adipogenesis.

Genetic-industrial classification of brown coals in Serbia

Energy Technology Data Exchange (ETDEWEB)

Ercegovac, Marko [Serbian Academy of Sciences and Arts, Knez Mihailova 35, 11000 Belgrade (Serbia and Montenegro); ?ivotic, Dragana; Kostic, Aleksandar [University of Belgrade, Faculty of Mining and Geology, Djusina 7, 11000 Belgrade (Serbia and Montenegro)

2006-08-01

The petrologic, chemical and technological features of low-rank coals from nineteen of the most important basins in Serbia have been studied as part of the research project of genetic-industrial classification of low-rank coals of Serbia. Most of these features have been included as parameters of the codification system for low-rank coals. The paper discusses the main genetic, technological and supplementary parameters of the Serbian brown coals such as rank, petrographic composition, gelification degree, total moisture, ash content, sulphur content, calorific value, tar yield, the chemical composition and the thermotechnical properties of ash. The rank of brown coals from Serbia has been defined on the basis of the following parameters: random reflectance of huminite/vitrinite (R{sub r}=0.26-0.50%), total moisture (W{sup ar}=13.18-49.11%), gross calorific value (Q{sup daf}=22.3-29.2MJ/kg, dry, ash-free basis), net calorific value (Q{sup daf}=21.2-28.1MJ/kg, dry, ash-free basis). The results from the maceral analysis confirm that the humic coals, in general, are characterized by high huminite content (76.0-97.9vol.%, mineral matter free), low inertinite amount (0.7-6.3vol.%, mineral matter free), and a variable amount of liptinite (0.8-15.5vol.%, mineral matter free). It is possible to define three groups of Serbian brown coals on the basis of the primary, or genetic parameters, technological, or chemical parameters, and supplementary parameters: soft (Low-Rank C; [Economic Commission for Europe, Committee on Sustainable Energy- United Nations (ECE-UN), 1998. International Classification of in-Seam Coals. Energy 19, 41 pp.; Economic Commission for Europe, Committee on Sustainable Energy- United Nations (ECE-UN), 1999. International Codification System for Low-Rank Coals. Energy 9, 19 pp.; Economic Commission for Europe, Committee on Sustainable Energy- United Nations (ECE-UN), 2000. International Classification for Low-Rank Coals. Energy 12, 21 pp.]), dull (Low

Direct bioconversion of brown algae into ethanol by thermophilic bacterium Defluviitalea phaphyphila.

Science.gov (United States)

Ji, Shi-Qi; Wang, Bing; Lu, Ming; Li, Fu-Li

2016-01-01

Brown algae are promising feedstocks for biofuel production with inherent advantages of no structural lignin, high growth rate, and no competition for land and fresh water. However, it is difficult for one microorganism to convert all components of brown algae with different oxidoreduction potentials to ethanol. Defluviitalea phaphyphila Alg1 is the first characterized thermophilic bacterium capable of direct utilization of brown algae. Defluviitalea phaphyphila Alg1 can simultaneously utilize mannitol, glucose, and alginate to produce ethanol, and high ethanol yields of 0.47 g/g-mannitol, 0.44 g/g-glucose, and 0.3 g/g-alginate were obtained. A rational redox balance system under obligate anaerobic condition in fermenting brown algae was revealed in D. phaphyphila Alg1 through genome and redox analysis. The excess reducing equivalents produced from mannitol metabolism were equilibrated by oxidizing forces from alginate assimilation. Furthermore, D. phaphyphila Alg1 can directly utilize unpretreated kelp powder, and 10 g/L of ethanol was accumulated within 72 h with an ethanol yield of 0.25 g/g-kelp. Microscopic observation further demonstrated the deconstruction process of brown algae cell by D. phaphyphila Alg1. The integrated biomass deconstruction system of D. phaphyphila Alg1, as well as its high ethanol yield, provided us an excellent alternative for brown algae bioconversion at elevated temperature.

Production of the blood pressure lowing peptides from brown alga ( Undaria pinnatifida)

Science.gov (United States)

Minoru, Sato; Takashi, Oba; Takao, Hosokawa; Toshiyasu, Yamaguchi; Toshiki, Nakano; Tadao, Saito; Koji, Muramoto; Takashi, Kahara; Katsura, Funayama; Akio, Kobayashi; Takahisa, Nakano

2005-07-01

Brown alga ( Undaria pinnatifida) was treated with alginate lyase and hydrolyzed using 17 kinds of proteases and the inhibitory activity of the hydrolysates for the angiotensin-I-converting enzyme (ACE) was measured. Four hydrolysates with potent ACE-inhibitory activity were administered singly and orally to spontaneously hypertensive rats (SHRs). The systolic blood pressure of SHRs decreases significantly after single oral administration of the brown alga hydrolysates by protease S ‘Amano’ (from Bacillus stearothermophilus) at the concentration of 10 (mg protein) (kg body weight)-1. In the 17 weeks of feeding experiment, 7-week-old SHRs were fed standard diet supplemented with the brown alga hydrolysates for 10 weeks. In SHRs fed 1.0 and 0.1% brown alga hydrolysates, elevating of systolic bloodpressure was significantly suppressed for 7 weeks. To elucidate the active components, the brown alga hydrolysates were fractionated by 1-butanol extraction and HPLC on a reverse-phase column. Seven kinds of ACE-inhibitory peptides were isolated and identified by amino acid composition analysis, sequence analysis, and LC-MS with the results Val-Tyr, Ile-Tyr, Ala-Trp, Phe-Tyr, Val-Trp, Ile-Trp, and Leu-Trp. Each peptide was determined to have an antihypertensive effect after a single oral administration in SHRs. The brown alga hydrolysates were also confirmed to decrease the blood pressure in humans.

A New Intergenic α-Globin Deletion (α-αΔ125) Found in a Kabyle Population.

Science.gov (United States)

Singh, Amrathlal Rabbind; Lacan, Philippe; Cadet, Estelle; Bignet, Patricia; Dumesnil, Cécile; Vannier, Jean-Pierre; Joly, Philippe; Rochette, Jacques

2016-01-01

We have identified a deletion of 125 bp (α-α(Δ125)) (NG_000006.1: g.37040_37164del) in the α-globin gene cluster in a Kabyle population. A combination of singlex and multiplex polymerase chain reaction (PCR)-based assays have been used to identify the molecular defect. Sequencing of the abnormal PCR amplification product revealed a novel α1-globin promoter deletion. The endpoints of the deletion were characterized by sequencing the deletion junctions of the mutated allele. The observed deletion was located 378 bp upstream of the α1-globin gene transcription initiation site and leaves the α2 gene intact. In some patients, the α-α(Δ125) deletion was shown to segregate with Hb S (HBB: c.20A>T) and/or Hb C (HBB: c.19G>A) or a β-thalassemic allele. The α-α(Δ125) deletion has no discernible effect on red cell indices when inherited with no other abnormal globin genes. The family study demonstrated that the deletion is heritable. This is the only example of an intergenic α2-α1 non coding DNA deletion, leaving the α2-globin gene and the α1 coding part intact.

Black-Brown Relations and Stereotypes.

Science.gov (United States)

Mindiola, Tatcho Jr.; Niemann, Yolanda Flores; Rodriguez, Nestor

This book analyzes how African and Hispanic Americans perceive and interact with one another, highlighting black-brown relations in Houston, Texas, one of the largest cities with a majority ethnic population and one in which Hispanic Americans outnumber African Americans. Using results from several sociological studies, the book examines: how each…

Protein kinase A-mediated cell proliferation in brown preadipocytes is independent of Erk1/2, PI3K and mTOR

International Nuclear Information System (INIS)

Wang, Yanling; Sato, Masaaki; Guo, Yuan; Bengtsson, Tore; Nedergaard, Jan

2014-01-01

The physiological agonist norepinephrine promotes cell proliferation of brown preadipocytes during the process of tissue recruitment. In a primary culture system, cAMP mediates these adrenergic effects. In the present study, we demonstrated that, in contrast to other systems where the mitogenic effect of cAMP requires the synergistic action of (serum) growth factors, especially insulin/IGF, the cAMP effect in brown preadipocytes was independent of serum and insulin. Protein kinase A, rather than Epac, mediated the cAMP mitogenic effect. The Erk 1/2 family of MAPK, the PI 3 K system and the mTOR complexes were all activated by cAMP, but these activations were not necessary for cAMP-induced cell proliferation; a protein kinase C isoform may be involved in mediating cAMP-activated cell proliferation. We conclude that the generally acknowledged cellular mediators for induction of cell proliferation are not involved in this process in the brown preadipocyte system; this conclusion may be of relevance both for examination of mechanisms for induction of brown adipose tissue recruitment but also for understanding the mechanism behind e.g. certain endocrine neoplasias. - Highlights: • cAMP can mimick norepinephrine-induced proliferation of brown preadipocytes. • The cAMP-induced proliferation can occur in the absence of serum, of any other growth factors, and of insulin. • Erk1/2, PI 3 K and mTOR are cAMP activated but not involved in induction of proliferation. • A Protein Kinase C member may be in the signalling cascade. • This pathway analysis may also be of importance for certain endocrine hyper- and neoplasias

Postural sway and gaze can track the complex motion of a visual target.

Directory of Open Access Journals (Sweden)

Vassilia Hatzitaki

Full Text Available Variability is an inherent and important feature of human movement. This variability has form exhibiting a chaotic structure. Visual feedback training using regular predictive visual target motions does not take into account this essential characteristic of the human movement, and may result in task specific learning and loss of visuo-motor adaptability. In this study, we asked how well healthy young adults can track visual target cues of varying degree of complexity during whole-body swaying in the Anterior-Posterior (AP and Medio-Lateral (ML direction. Participants were asked to track three visual target motions: a complex (Lorenz attractor, a noise (brown and a periodic (sine moving target while receiving online visual feedback about their performance. Postural sway, gaze and target motion were synchronously recorded and the degree of force-target and gaze-target coupling was quantified using spectral coherence and Cross-Approximate entropy. Analysis revealed that both force-target and gaze-target coupling was sensitive to the complexity of the visual stimuli motions. Postural sway showed a higher degree of coherence with the Lorenz attractor than the brown noise or sinusoidal stimulus motion. Similarly, gaze was more synchronous with the Lorenz attractor than the brown noise and sinusoidal stimulus motion. These results were similar regardless of whether tracking was performed in the AP or ML direction. Based on the theoretical model of optimal movement variability tracking of a complex signal may provide a better stimulus to improve visuo-motor adaptation and learning in postural control.

Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.

Science.gov (United States)

DeScipio, Cheryl; Conlin, Laura; Rosenfeld, Jill; Tepperberg, James; Pasion, Romela; Patel, Ankita; McDonald, Marie T; Aradhya, Swaroop; Ho, Darlene; Goldstein, Jennifer; McGuire, Marianne; Mulchandani, Surabhi; Medne, Livija; Rupps, Rosemarie; Serrano, Alvaro H; Thorland, Erik C; Tsai, Anne C-H; Hilhorst-Hofstee, Yvonne; Ruivenkamp, Claudia A L; Van Esch, Hilde; Addor, Marie-Claude; Martinet, Danielle; Mason, Thornton B A; Clark, Dinah; Spinner, Nancy B; Krantz, Ian D

2012-09-01

We describe 19 unrelated individuals with submicroscopic deletions involving 10p15.3 characterized by chromosomal microarray (CMA). Interestingly, to our knowledge, only two individuals with isolated, submicroscopic 10p15.3 deletion have been reported to date; however, only limited clinical information is available for these probands and the deleted region has not been molecularly mapped. Comprehensive clinical history was obtained for 12 of the 19 individuals described in this study. Common features among these 12 individuals include: cognitive/behavioral/developmental differences (11/11), speech delay/language disorder (10/10), motor delay (10/10), craniofacial dysmorphism (9/12), hypotonia (7/11), brain anomalies (4/6) and seizures (3/7). Parental studies were performed for nine of the 19 individuals; the 10p15.3 deletion was de novo in seven of the probands, not maternally inherited in one proband and inherited from an apparently affected mother in one proband. Molecular mapping of the 19 individuals reported in this study has identified two genes, ZMYND11 (OMIM 608668) and DIP2C (OMIM 611380; UCSC Genome Browser), mapping within 10p15.3 which are most commonly deleted. Although no single gene has been identified which is deleted in all 19 individuals studied, the deleted region in all but one individual includes ZMYND11 and the deleted region in all but one other individual includes DIP2C. There is not a clearly identifiable phenotypic difference between these two individuals and the size of the deleted region does not generally predict clinical features. Little is currently known about these genes complicating a direct genotype/phenotype correlation at this time. These data however, suggest that ZMYND11 and/or DIP2C haploinsufficiency contributes to the clinical features associated with 10p15 deletions in probands described in this study. Copyright © 2012 Wiley Periodicals, Inc.

Seven gene deletions in seven days

DEFF Research Database (Denmark)

Ingemann Jensen, Sheila; Lennen, Rebecca; Herrgard, Markus

2015-01-01

Generation of multiple genomic alterations is currently a time consuming process. Here, a method was established that enables highly efficient and simultaneous deletion of multiple genes in Escherichia coli. A temperature sensitive plasmid containing arabinose inducible lambda Red recombineering ...

Inhibition of tyrosinase-mediated enzymatic browning by sulfite and natural alternatives

NARCIS (Netherlands)

Kuijpers, T.F.M.; Vincken, J.P.

2013-01-01

Although sulfite is widely used to counteract enzymatic browning, its mechanism has remained largely unknown. We describe a double inhibitory mechanism of sulfite on enzymatic browning, affecting both the enzymatic oxidation of phenols into o‑quinones, as well as the non‑enzymatic

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.

Deletion Analysis Of The Duchenne/Becker Muscular Dystrophy Gene Using Multiplex Polymerase Chain Reaction

Directory of Open Access Journals (Sweden)

Dastur P

2004-01-01

Full Text Available The diagnosis of Duchenna Muscular Dystrophy (DMD and Becker Muscular Dystorphy (BMD is mainly based on clinical profile, serum CPK values, muscle biopsy and immunostaining for dystrophin. This was done in 100 unrelated patients using 19 exons including the promoter region in two sets of multiplex polymerase chain reaction (PCR. These primers amplify most of the exons in the deletion prone ′hot spot′ regions allowing determinations of deletion end points. Intragenic deletions were detected in 74 patients indicating that the use of PCR- based assays will allow deletion detection help in prenatal diagnosis for most of the DMD/BMD patients. The frequency of deletions observed in the present study was 74%.

Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization.

OpenAIRE

Fantes, J A; Bickmore, W A; Fletcher, J M; Ballesta, F; Hanson, I M; van Heyningen, V

1992-01-01

Fluorescence in situ hybridization (FISH) with biotin-labeled probes mapping to 11p13 has been used for the molecular analysis of deletions of the WAGR (Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation) locus. We have detected a submicroscopic 11p13 deletion in a child with inherited aniridia who subsequently presented with Wilms tumor in a horseshoe kidney, only revealed at surgery. The mother, who has aniridia, was also found to carry a deletion including both the ...

Monoterpene limonene induces brown fat-like phenotype in 3T3-L1 white adipocytes.

Science.gov (United States)

Lone, Jameel; Yun, Jong Won

2016-05-15

Several dietary compounds that are able to induce the brown fat-like phenotype in white adipocytes have been considered for treatment of obesity due to their ability to increase energy expenditure. Here, we report that limonene induces the brown fat-like phenotype in 3T3-L1 adipocytes by increasing expression of brown adipocyte-specific genes and proteins. Limonene-induced browning in white adipocytes was investigated by determining expression levels of brown fat-specific genes and proteins by real-time RT-PCR, immunoblot analysis, and immunocytochemical staining. Limonene enhanced mitochondrial biogenesis, as evidenced by increased mitochondrial content and immunofluorescent intensity. Limonene also significantly elevated protein levels of HSL, PLIN, p-AMPK, p-ACC, ACO, COX4, CPT1, and CYT C, suggesting its possible role in enhancement of lipolysis and lipid catabolism. Increased expression of PRDM16, UCP1, C/EBPβ, and other brown fat-specific markers by limonene was possibly mediated by activation of β3-adnergenic receptor (β3-AR), as inhibition of β3-AR inhibited up-regulation of brown fat-specific markers. Similarly, limonene-mediated activation of ERK and up-regulation of key brown adipocyte specific markers were eliminated by treatment with ERK antagonist. Taken together, these results suggest that limonene induces browning of 3T3-L1 adipocytes via activation of β3-AR and the ERK signaling pathway. In conclusion, our findings suggest that limonene plays a dual modulatory role in induction of the brown adipocyte-like phenotype as well as promotion of lipid metabolism and thus may have potential therapeutic implications for treatment of obesity. Copyright © 2016 Elsevier Inc. All rights reserved.

Population II brown dwarfs and dark haloes

International Nuclear Information System (INIS)

Zinnecker, H.

1986-01-01

Opacity-limited fragmentation is investigated as a function of the dust-to-gas ratio and it is found that the characteristic protostellar mass Msub(*) is metallicity-dependent. This dependence is such that, for the low metallicity gas out of which the stars of Population II formed in the halo, Msub(*) is less than 0.1 M solar mass. If applicable, these theoretical considerations would predict that substellar masses have formed more frequently under the metal-poor conditions in the early Galaxy (Population II brown dwarfs). Thus the missing mass in the Galactic halo and in the dark haloes around other spirals may well reside in these metal-poor Population II brown dwarfs. (author)

Utilization in rats of 14C-L-lysine-labeled casein browned by amino-carbonyl reaction

International Nuclear Information System (INIS)

Mori, Bunpei; Nakatsuji, Hirotaka.

1977-01-01

The investigation was carried out in order to elucidate the reason for the reduction in nutritive value of browned protein, by using labeled casein as a model protein. Goat casein preparation in which lysine residues had been labeled with 14 C was browned by amino-carbonyl reaction with glucose at 37 0 C. Browned or non-browned casein was ingested by growing rats by spaced feeding. When the rats ingested the browned casein the experimental group, higher radioactivity was found in TCA-soluble fraction in the small intestine as compared with that in the control group, while radioactivity was scarecely found in feces for 22 hr. Along with absorption delay, considerably high radioactivity was found in urine. The recovery of radioactivity in expired air of rats fed the labeled casein (browned and non-browned) was measured. In the experimental group, expired 14 CO 2 came out slower than the control group. From these results, it is suggested that the main reason for the reduction in nutritive value by browning reaction may be the formation of a lysine derivative in a protein, which remains in the small intestinal lumen as an absorption-delayed material and is finally excreted in urine. (auth.)

Multi-party quantum key agreement with five-qubit brown states

Science.gov (United States)

Cai, Tao; Jiang, Min; Cao, Gang

2018-05-01

In this paper, we propose a multi-party quantum key agreement protocol with five-qubit brown states and single-qubit measurements. Our multi-party protocol ensures each participant to contribute equally to the agreement key. Each party performs three single-qubit unitary operations on three qubits of each brown state. Finally, by measuring brown states and decoding the measurement results, all participants can negotiate a shared secret key without classical bits exchange between them. With the analysis of security, our protocol demonstrates that it can resist against both outsider and participant attacks. Compared with other schemes, it also possesses a higher information efficiency. In terms of physical operation, it requires single-qubit measurements only which weakens the hardware requirements of participant and has a better operating flexibility.

Development trends in the Lusatian brown coal mining industry

International Nuclear Information System (INIS)

Schwirten, D.

1994-01-01

Lusatia has lived on and with brown coal for over 200 years. Brown coal changed what was once a region in which forestry and agriculture predominated into an industrial region. Thanks to its good combustion properties and high energy yield brown coal very soon became known and popular. It was always the driving force for a rapid development which resulted in an economically sound and technically up-to-date industry in Lusatia. This powerful status of brown coal was however soon exploited for aims which were bound to lead to the downfall of two social structures (during the years from 1933 to 1990) by reason of a regime of unconditional autarchy. The economic and technical development thus initiated certainly brought many advantages, but it also had serious diadvantages. Constant increases in production, as a result of which planned rated outputs were intentionally disregarded, were the rule because production targets had to be met or exceeded. Economic inefficiency led to a scarcity of labour and a shortage of finances. Environmental aims had no priority since production was the absolute, primary objective. Consequently, this regime of economic autarchy ended in an one-way street as far as industry was concerned, a situation which was accompanied by an unexampled destruction of the natural basic living conditions and direct, threatening health hazards to man and nature. The year 1990 saw the beginning of the transition from planned controlled economy to free market economy. The reorganization of the former large combines as corporations was not however merely a formal change, but internally also represented a transformation. The brown coal mining industry manifested its new intention and determination to be economically competitive and unsubsidized in future, to operate in such a way as to be compatible with the environment and to exploit reserves carefully, as well as to render its activities socially compatible. (orig.) [de

Database for content of mercury in Polish brown coal

Science.gov (United States)

Jastrząb, Krzysztof

2018-01-01

Poland is rated among the countries with largest level of mercury emission in Europe. According to information provided by the National Centre for Balancing and Management of Emissions (KOBiZE) more than 10.5 tons of mercury and its compounds were emitted into the atmosphere in 2015 from the area of Poland. Within the scope of the BazaHg project lasting from 2014 to 2015 and co-financed from the National Centre of Research and Development (NCBiR) a database was set up with specification of mercury content in Polish hard steam coal, coking coal and brown coal (lignite) grades. With regard to domestic brown coal the database comprises information on coal grades from Brown Coal Mines of `Bełchatów', `Adamów', `Turów' and `Sieniawa'. Currently the database contains 130 records with parameters of brown coal, where each record stands for technical analysis (content of moisture, ash and volatile particles), elemental analysis (CHNS), content of chlorine and mercury as well as net calorific value and combustion heat. Content of mercury in samples of brown coal grades under test ranged from 44 to 985 μg of Hg/kg with the average level of 345 μg of Hg/kg. The established database makes up a reliable and trustworthy source of information about content of mercury in Polish fossils. The foregoing details completed with information about consumption of coal by individual electric power stations and multiplied by appropriate emission coefficients may serve as the background to establish loads of mercury emitted into atmosphere from individual stations and by the entire sector of power engineering in total. It will also enable Polish central organizations and individual business entities to implement reasonable policy with respect of mercury emission into atmosphere.

Molecular phylogeography of the brown bear (Ursus arctos) in Northeastern Asia based on analyses of complete mitochondrial DNA sequences.

Science.gov (United States)

Hirata, Daisuke; Mano, Tsutomu; Abramov, Alexei V; Baryshnikov, Gennady F; Kosintsev, Pavel A; Vorobiev, Alexandr A; Raichev, Evgeny G; Tsunoda, Hiroshi; Kaneko, Yayoi; Murata, Koichi; Fukui, Daisuke; Masuda, Ryuichi

2013-07-01

To further elucidate the migration history of the brown bears (Ursus arctos) on Hokkaido Island, Japan, we analyzed the complete mitochondrial DNA (mtDNA) sequences of 35 brown bears from Hokkaido, the southern Kuril Islands (Etorofu and Kunashiri), Sakhalin Island, and the Eurasian Continent (continental Russia, Bulgaria, and Tibet), and those of four polar bears. Based on these sequences, we reconstructed the maternal phylogeny of the brown bear and estimated divergence times to investigate the timing of brown bear migrations, especially in northeastern Eurasia. Our gene tree showed the mtDNA haplotypes of all 73 brown and polar bears to be divided into eight divergent lineages. The brown bear on Hokkaido was divided into three lineages (central, eastern, and southern). The Sakhalin brown bear grouped with eastern European and western Alaskan brown bears. Etorofu and Kunashiri brown bears were closely related to eastern Hokkaido brown bears and could have diverged from the eastern Hokkaido lineage after formation of the channel between Hokkaido and the southern Kuril Islands. Tibetan brown bears diverged early in the eastern lineage. Southern Hokkaido brown bears were closely related to North American brown bears.

SMA and CARMA observations of young brown dwarfs in ρ Ophiuchi and Taurus

Directory of Open Access Journals (Sweden)

Lee C.-F.

2011-07-01

Full Text Available Molecular outflows provide vital information about the earliest stages in the birth of stars, studying the molecular outflow properties is therefore crucial for understanding how stars form. Brown dwarfs with masses between that of stars and planets are not massive enough to maintain stable hydrogen-burning fusion reactions during most of their lifetime. Their origins are subject to much debate in recent literature because their masses are far below the typical mass where core collapse is expected to occur. Based on Submillimeter Array (SMA and Combined Array for Research in Millimeter-wave Astronomy (CARMA observations, we present the first detections of bipolar molecular outflows from young brown dwarfs in ρ Ophiuchi and Taurus. Our results demonstrate that the bipolar molecular outflow operates down to brown dwarf masses, occurring in brown dwarfs as a scaled-down version of the universal process seen in young low-mass stars. This demonstrates that brown dwarfs and low-mass stars likely share the same formation mechanism.

Prenatal Diagnosis and Molecular Analysis of a Large Novel Deletion (- -JS) Causing α0-Thalassemia.

Science.gov (United States)

Cao, Jinru; He, Shuzhen; Pu, Yudong; Liu, Jingjing; Liu, Fuping; Feng, Jun

α-Thalassemia (α-thal) is a very common single gene hereditary disease caused by large deletions or point mutations of the α-globin gene cluster in tropical and subtropical regions of the world. Here, we report for the first time, a novel large α-thal deletion in a Chinese family from Jiangsu Province, People's Republic of China (PRC), which removes almost the entire α2 and α1 genes from the α-globin gene cluster. Thus, it was named the Jiangsu deletion (- - JS ) on the α-globin gene cluster causing α 0 -thal. Heterozygotes for this deletion showed an α-thal trait phenotype with reduced mean corpuscular volume (MCV) and mean corpuscular hemoglobin (Hb) (MCH) levels. The sequencing results showed that a 2538 bp deletion (NG_000006.1: g.35801_38338) existed in this novel genotype on the basis of -α 4.2 (leftward), indicating a deletion of about 6.8 kb from the α-globin cluster. In addition, a 29 bp sequence was inserted into the deletion during the recombination events that led to this deletion. Through pedigree analysis, we knew that the proband inherited the novel allele from his mother.

Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome

Science.gov (United States)

Bertelsen, Birgitte; Melchior, Linea; Jensen, Lars R; Groth, Camilla; Glenthøj, Birte; Rizzo, Renata; Debes, Nanette Mol; Skov, Liselotte; Brøndum-Nielsen, Karen; Paschou, Peristera; Silahtaroglu, Asli; Tümer, Zeynep

2014-01-01

Tourette syndrome is a neurodevelopmental disorder characterized by multiple motor and vocal tics, and the disorder is often accompanied by comorbidities such as attention-deficit hyperactivity-disorder and obsessive compulsive disorder. Tourette syndrome has a complex etiology, but the underlying environmental and genetic factors are largely unknown. IMMP2L (inner mitochondrial membrane peptidase, subunit 2) located on chromosome 7q31 is one of the genes suggested as a susceptibility factor in disease pathogenesis. Through screening of a Danish cohort comprising 188 unrelated Tourette syndrome patients for copy number variations, we identified seven patients with intragenic IMMP2L deletions (3.7%), and this frequency was significantly higher (P=0.0447) compared with a Danish control cohort (0.9%). Four of the seven deletions identified did not include any known exons of IMMP2L, but were within intron 3. These deletions were found to affect a shorter IMMP2L mRNA species with two alternative 5′-exons (one including the ATG start codon). We showed that both transcripts (long and short) were expressed in several brain regions, with a particularly high expression in cerebellum and hippocampus. The current findings give further evidence for the role of IMMP2L as a susceptibility factor in Tourette syndrome and suggest that intronic changes in disease susceptibility genes should be investigated further for presence of alternatively spliced exons. PMID:24549057

An historical perspective - Brown is not a color. [astrophysics of infrared dwarf stars

Science.gov (United States)

Tarter, J. C.

1986-01-01

Major shifts in theoretical understanding of the star formation process and the possible components of the local mass density are reviewed. Those aspects of brown dwarf structure and evolution that are still not well enough understood are outlined, and the types of observations that might force the modification of current theories to accommodate the existence of brown dwarfs are suggested. The appropriateness of the name 'brown dwarf' is defended.

Deletion of Smgpi1 encoding a GPI-anchored protein suppresses sterility of the STRIPAK mutant ΔSmmob3 in the filamentous ascomycete Sordaria macrospora.

Science.gov (United States)

Frey, Stefan; Lahmann, Yasmine; Hartmann, Thomas; Seiler, Stephan; Pöggeler, Stefanie

2015-08-01

The striatin interacting phosphatase and kinase (STRIPAK) complex, which is composed of striatin, protein phosphatase PP2A and kinases, is required for fruiting-body development and cell fusion in the filamentous ascomycete Sordaria macrospora. Here, we report on the interplay of the glycosylphosphatidylinositol (GPI)-anchored protein SmGPI1 with the kinase activator SmMOB3, a core component of human and fungal STRIPAK complexes. SmGPI1 is conserved among filamentous ascomycetes and was first identified in a yeast two-hybrid screen using SmMOB3 as bait. The physical interaction of SmMOB3 and SmGPI1 was verified by co-immunoprecipitation. In vivo localization and differential centrifugation revealed that SmGPI1 is predominantly secreted and attached to the cell wall but is also associated with mitochondria and appears to be a dual-targeted protein. Deletion of Smgpi1 led to an increased number of fruiting bodies that were normally shaped but reduced in size. In addition, Smmob3 and Smgpi1 genetically interact. In the sterile ΔSmmob3 background deletion of Smgpi1 restores fertility, vegetative growth as well as hyphal-fusion defects. The suppression effect was specific for the ΔSmmob3 mutant as deletion of Smgpi1 in other STRIPAK mutants does not restore fertility. © 2015 John Wiley & Sons Ltd.

Induction of Mitochondrial DNA Deletion by Ionizing Radiation in Human Lung Fibroblast IMR-90 Cells

International Nuclear Information System (INIS)

Eom, Hyeon Soo; Jung, U Hee; Park, Hae Ran; Jo, Sung Kee

2009-01-01

Mitochondrial DNA (mtDNA) deletion is a well-known marker for oxidative stress and aging and also contributes to their unfavorable effects in cultured cells and animal tissues. This study was conducted to investigate the effect of ionizing radiation (IR) on mtDNA deletion and the involvement of reactive oxygen species (ROS) in this process in human lung fibroblast (IMR-90) cells. Young IMR-90 cells at population doubling (PD) 39 were irradiated with 137 Cs -rays and the intracellular ROS level was determined by 2',7'-dichlorofluorescein diacetate (DCFH-DA) and mtDNA common deletion (4977bp) was detected by nested PCR. Old cells at PD 55 and H 2 O 2 -treated young cells were compared as the positive control. IR increased the intracellular ROS level and mtDNA 4977 bp deletion in IMR-90 cells dose-dependently. The increases of ROS level and mtDNA deletion were also observed in old cells and H 2 O 2 -treated young cells. To confirm the increased ROS level is essential for mtDNA deletion in irradiated cells, the effects of N-acetylcysteine (NAC) on IRinduced ROS and mtDNA deletion were examined. 5 mM NAC significantly attenuated the IR-induced ROS increase and mtDNA deletion. These results suggest that IR induces the mtDNA deletion and this process is mediated by ROS in IMR-90 cells

Genetic characterization of Kenai brown bears (Ursus arctos): Microsatellite and mitochondrial DNA control region variation in brown bears of the Kenai Peninsula, south central Alaska

Science.gov (United States)

Jackson, J.V.; Talbot, S.L.; Farley, S.

2008-01-01

We collected data from 20 biparentally inherited microsatellite loci, and nucleotide sequence from the maternally inherited mitochondrial DNA (mtDNA) control region, to determine levels of genetic variation of the brown bears (Ursus arctos L., 1758) of the Kenai Peninsula, south central Alaska. Nuclear genetic variation was similar to that observed in other Alaskan peninsular populations. We detected no significant inbreeding and found no evidence of population substructuring on the Kenai Peninsula. We observed a genetic signature of a bottleneck under the infinite alleles model (IAM), but not under the stepwise mutation model (SMM) or the two-phase model (TPM) of microsatellite mutation. Kenai brown bears have lower levels of mtDNA haplotypic diversity relative to most other brown bear populations in Alaska. ?? 2008 NRC.

Rare copy number deletions predict individual variation in intelligence.

Directory of Open Access Journals (Sweden)

Ronald A Yeo

2011-01-01

Full Text Available Phenotypic variation in human intellectual functioning shows substantial heritability, as demonstrated by a long history of behavior genetic studies. Many recent molecular genetic studies have attempted to uncover specific genetic variations responsible for this heritability, but identified effects capture little variance and have proven difficult to replicate. The present study, motivated an interest in "mutation load" emerging from evolutionary perspectives, examined the importance of the number of rare (or infrequent copy number variations (CNVs, and the total number of base pairs included in such deletions, for psychometric intelligence. Genetic data was collected using the Illumina 1MDuoBeadChip Array from a sample of 202 adult individuals with alcohol dependence, and a subset of these (N = 77 had been administered the Wechsler Abbreviated Scale of Intelligence (WASI. After removing CNV outliers, the impact of rare genetic deletions on psychometric intelligence was investigated in 74 individuals. The total length of the rare deletions significantly and negatively predicted intelligence (r = -.30, p = .01. As prior studies have indicated greater heritability in individuals with relatively higher parental socioeconomic status (SES, we also examined the impact of ethnicity (Anglo/White vs. Other, as a proxy measure of SES; these groups did not differ on any genetic variable. This categorical variable significantly moderated the effect of length of deletions on intelligence, with larger effects being noted in the Anglo/White group. Overall, these results suggest that rare deletions (between 5% and 1% population frequency or less adversely affect intellectual functioning, and that pleotropic effects might partly account for the association of intelligence with health and mental health status. Significant limitations of this research, including issues of generalizability and CNV measurement, are discussed.

Rare Copy Number Deletions Predict Individual Variation in Intelligence

Science.gov (United States)

Yeo, Ronald A.; Gangestad, Steven W.; Liu, Jingyu; Calhoun, Vince D.; Hutchison, Kent E.

2011-01-01

Phenotypic variation in human intellectual functioning shows substantial heritability, as demonstrated by a long history of behavior genetic studies. Many recent molecular genetic studies have attempted to uncover specific genetic variations responsible for this heritability, but identified effects capture little variance and have proven difficult to replicate. The present study, motivated an interest in “mutation load” emerging from evolutionary perspectives, examined the importance of the number of rare (or infrequent) copy number variations (CNVs), and the total number of base pairs included in such deletions, for psychometric intelligence. Genetic data was collected using the Illumina 1MDuoBeadChip Array from a sample of 202 adult individuals with alcohol dependence, and a subset of these (N = 77) had been administered the Wechsler Abbreviated Scale of Intelligence (WASI). After removing CNV outliers, the impact of rare genetic deletions on psychometric intelligence was investigated in 74 individuals. The total length of the rare deletions significantly and negatively predicted intelligence (r = −.30, p = .01). As prior studies have indicated greater heritability in individuals with relatively higher parental socioeconomic status (SES), we also examined the impact of ethnicity (Anglo/White vs. Other), as a proxy measure of SES; these groups did not differ on any genetic variable. This categorical variable significantly moderated the effect of length of deletions on intelligence, with larger effects being noted in the Anglo/White group. Overall, these results suggest that rare deletions (between 5% and 1% population frequency or less) adversely affect intellectual functioning, and that pleotropic effects might partly account for the association of intelligence with health and mental health status. Significant limitations of this research, including issues of generalizability and CNV measurement, are discussed. PMID:21298096

The Effect of Irradiation Treatment on the Non-Enzymatic Browning Reaction in Legume Seeds

International Nuclear Information System (INIS)

El-Niely, H.F.G.

2013-01-01

The present study was conducted to evaluate the effects of gamma irradiation treatment, at room temperature, on the non-enzymatic browning reaction (Millerd reaction products, MRPs) generated in soybeans, broad beans and dried peas seeds at dose levels of 10, 30 and 60 kGy and their effects on the chemical constituents, soluble protein, available lysine and in vitro protein digestibility. The formation of MRPs in the studied legumes was assayed by monitoring the formation of brown pigments (browning intensity) by spectrophotometric method. The results revealed that the chemical composition of irradiated legumes showed non-significant differences relative to the raw one. A dose dependent decrease in soluble proteins and available lysine in the three legumes were observed. The non-enzymatic browning reaction was significantly increased with increasing the radiation dose, which was proved by changes in browning index tests. At the same time, the in vitro protein digestibility was increased after irradiation up to 60 kGy. Irradiation of dried peas with 60 kGy produced higher browning index than the other legumes. A positive correlation was observed between the radiation dose and the browning index for soybeans (R2= 0.96), broad beans (R2 = 0.81) and dried peas (R2 = 0.97) which means that 96%, 81% and 97 of the variation in the incidence of non-enzymatic browning reaction in soybean, broad bean and dried peas, respectively, are due to the effect of irradiation treatments. The present study suggests that the formation of non-enzymatic browning reaction did not impair the nutritional quality of legumes, therefore, the process of irradiation was helpful in increasing the in vitro protein digestibility of studied legumes. These results clearly indicated that gamma irradiation processing at the studied doses can add valuable effects to the studied legumes

Deletion of Nhlh2 results in a defective torpor response and reduced Beta adrenergic receptor expression in adipose tissue.

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Umesh D Wankhade

2010-08-01

Full Text Available Mice with a targeted deletion of the basic helix-loop-helix transcription factor, Nescient Helix-Loop-Helix 2 (Nhlh2, display adult-onset obesity with significant increases in their fat depots, abnormal responses to cold exposure, and reduced spontaneous physical activity levels. These phenotypes, accompanied by the hypothalamic expression of Nhlh2, make the Nhlh2 knockout (N2KO mouse a useful model to study the role of central nervous system (CNS control on peripheral tissue such as adipose tissue.Differences in body temperature and serum analysis of leptin were performed in fasted and ad lib fed wild-type (WT and N2KO mice. Histological analysis of white (WAT and brown adipose tissue (BAT was performed. Gene and protein level expression of inflammatory and metabolic markers were compared between the two genotypes.We report significant differences in serum leptin levels and body temperature in N2KO mice compared with WT mice exposed to a 24-hour fast, suggestive of a defect in both white (WAT and brown adipose tissue (BAT function. As compared to WT mice, N2KO mice showed increased serum IL-6 protein and WAT IL-6 mRNA levels. This was accompanied by slight elevations of mRNA for several macrophage markers, including expression of macrophage specific protein F4/80 in adipose, suggestive of macrophage infiltration of WAT in the mutant animals. The mRNAs for beta3-adrenergic receptors (beta3-AR, beta2-AR and uncoupling proteins were significantly reduced in WAT and BAT from N2KO mice compared with WT mice.These studies implicate Nhlh2 in the central control of WAT and BAT function, with lack of Nhlh2 leading to adipose inflammation and altered gene expression, impaired leptin response to fasting, all suggestive of a deficient torpor response in mutant animals.

Maxillary brown tumor associated with chronic kidney failure: a case report

Directory of Open Access Journals (Sweden)

Stênio Medeiros Queiroz

2013-12-01

Full Text Available The brown tumor is a bone lesion that may affect the entire skeleton, including the maxillary bones. These tumors are characterized as focal giant cell lesions that may be associated with primary or secondary hyperparathyroidism (HPT. Brown tumors are invasive in some cases and an association with chronic renal failure (CRF has been reported. With the aim to facilitate the differential diagnosis of bone lesions that may affect dialysis patients, this paper describes a case of brown tumor in a 36- year old patient with CRF, secondary HPT carrier, who had a lesion on the right maxilla for approximately five months.

Brown-McLean Syndrome in a Pediatric Patient

Science.gov (United States)

Tourkmani, Abdo Karim; Martinez, Jaime D.; Berrones, David; Juárez-Domínguez, Brenda Y.; Beltrán, Francisco; Galor, Anat

2015-01-01

The purpose of this manuscript is to report the case of a 12-year-old patient who presented for routine ophthalmic examination after congenital cataract surgery performed at 2 months of age. The patient was diagnosed with bilateral Brown-McLean syndrome by slit lamp examination. No treatment was required because the patient was asymptomatic and had a clear central cornea. This is the first described case of Brown-McLean syndrome in a pediatric patient, representing the importance of clinical examination in the pediatric age group after cataract surgery because of the risk for patients of developing peripheral edema. PMID:26034485

Angiotensin-converting enzyme insertion/deletion gene ...

Indian Academy of Sciences (India)

Angiotensin-converting enzyme insertion/deletion gene polymorphism in cystic fibrosis patients. Sabrine Oueslati Sondess Hadj Fredj Hajer Siala Amina Bibi Hajer Aloulou Lamia Boughamoura Khadija Boussetta Sihem Barsaoui Taieb Messaoud. Research Note Volume 95 Issue 1 March 2016 pp 193-196 ...

Angiotensin Converting Enzyme Insertion/Deletion Gene ...

African Journals Online (AJOL)

Angiotensin Converting Enzyme Insertion/Deletion Gene Polymorphism: An Observational Study among Diabetic Hypertensive Subjects in Malaysia. ... Methods: The pharmacological effect of ACE inhibition on mean arterial pressure (MAP) and glomerular filtration rate (GFR) were observed among a total of 62 subjects for ...

Acquired retinal pigmentary degeneration in a child with 13q deletion syndrome.

Science.gov (United States)

Aguilera, Zenia P; Belin, Peter J; Cavuoto, Kara M; Jayakar, Parul; McKeown, Craig A

2015-10-01

Orbeli syndrome, or 13q deletion syndrome, is a rare condition caused by a distal deletion in the long arm of chromosome 13. The syndrome is characterized by severe physical malformations and developmental delays and has been associated with numerous ocular manifestations. We report the case of a 10-year-old boy with 13q deletion syndrome, who was evaluated for impaired vision and found to have bilateral retinal pigmentary changes resembling those seen in retinitis pigmentosa. There has only been one other case of retinal pigment variation in association with 13q deletion syndrome; however, this represents the first case of bilateral symmetric retinal pigmentary changes with corresponding rod and cone dysfunction on electroretinography. Copyright © 2015 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

Conservation implications of brown hyaena (Parahyaena brunnea population densities and distribution across landscapes in Botswana

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Christiaan W. Winterbach

2017-05-01

Full Text Available The brown hyaena (Parahyaena brunnea is endemic to southern Africa. The largest population of this near-threatened species occurs in Botswana, but limited data were available to assess distribution and density. Our objectives were to use a stratified approach to collate available data and to collect more data to assess brown hyaena distribution and density across land uses in Botswana. We conducted surveys using track counts, camera traps and questionnaires and collated our results and available data to estimate the brown hyaena population based on the stratification of Botswana for large carnivores. Brown hyaenas occur over 533 050 km² (92% of Botswana. Our density estimates ranged from 0 brown hyaenas/100 km² in strata of northern Botswana to 2.94 (2.16–3.71 brown hyaenas/100 km² in the southern stratum of the Central Kalahari Game Reserve. We made assumptions regarding densities in strata that lacked data, using the best references available. We estimated the brown hyaena population in Botswana as 4642 (3133–5993 animals, with 6.8% of the population in the Northern Conservation Zone, 73.1% in the Southern Conservation Zone, 2.0% in the smaller conservation zones and 18.1% in the agricultural zones. The similar densities of brown hyaenas in the Central Kalahari Game Reserve and the Ghanzi farms highlight the potential of agricultural areas in Botswana to conserve this species. The conservation of brown hyaenas in the agricultural landscape of Botswana is critical for the long-term conservation of the species; these areas provide important links between populations in South Africa, Namibia and Zimbabwe. Conservation implications: Botswana contains the core of the brown hyaena population in southern Africa, and conflict mitigation on agricultural land is crucial to maintaining connectivity among the range countries.

iTRAQ-Based Quantitative Proteomics Identifies Potential Regulatory Proteins Involved in Chicken Eggshell Brownness.

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Guangqi Li

Full Text Available Brown eggs are popular in many countries and consumers regard eggshell brownness as an important indicator of egg quality. However, the potential regulatory proteins and detailed molecular mechanisms regulating eggshell brownness have yet to be clearly defined. In the present study, we performed quantitative proteomics analysis with iTRAQ technology in the shell gland epithelium of hens laying dark and light brown eggs to investigate the candidate proteins and molecular mechanisms underlying variation in chicken eggshell brownness. The results indicated 147 differentially expressed proteins between these two groups, among which 65 and 82 proteins were significantly up-regulated in the light and dark groups, respectively. Functional analysis indicated that in the light group, the down-regulated iron-sulfur cluster assembly protein (Iba57 would decrease the synthesis of protoporphyrin IX; furthermore, the up-regulated protein solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator, member 5 (SLC25A5 and down-regulated translocator protein (TSPO would lead to increased amounts of protoporphyrin IX transported into the mitochondria matrix to form heme with iron, which is supplied by ovotransferrin protein (TF. In other words, chickens from the light group produce less protoporphyrin IX, which is mainly used for heme synthesis. Therefore, the exported protoporphyrin IX available for eggshell deposition and brownness is reduced in the light group. The current study provides valuable information to elucidate variation of chicken eggshell brownness, and demonstrates the feasibility and sensitivity of iTRAQ-based quantitative proteomics analysis in providing useful insights into the molecular mechanisms underlying brown eggshell pigmentation.

Pre-migratory differentiation of wild brown trout into migrant and resident individuals

DEFF Research Database (Denmark)

Nielsen, C.; Aarestrup, Kim; Norum, U.

2003-01-01

In February to March, wild brown trout Salmo trutta were captured by electrofishing in a natural watercourse (tributaries of the River Lille Aa, Denmark), individually tagged (Passive Integrated Transponders), and released. Representatives of the tagged brown trout were recaptured on the release......+,K+-ATPase analysis. Based on repetitive gill enzyme analysis in individual fish, a retrospective analysis of the rate of development in individual brown trout ultimately classified as migrants or residents was performed. Two months prior to migration, a bimodal morphological and physiological (gill Na...... a smolt-like appearance before the onset of migration and had higher rate of change of gill Na+,K+-ATPase activity than fish remaining residents. The rate of change of gill Na+,K+-ATPase activity was independent of the distance migrated to the trap (3-28 km). Thus in bimodal wild brown trout populations...

MicroRNA Dysregulation, Gene Networks, and Risk for Schizophrenia in 22q11.2 Deletion Syndrome