Mouse genetic resources include inbred strains, recombinant inbred lines, chromosome substitution strains, heterogeneous stocks, and the Collaborative Cross (CC). These resources were generated through...Full Text Available
Random amplified polymorphic DNA fingerprinting was performed to assess the genetic diversity among rarely cultivated traditional indica rice (Oryza sativa ...Full Text Available
This study investigated the association between differences in litter size in Boer does, with geneticpolymorphisms in the inhibin alpha gene. Our preliminary (n=209) results found 12 SNPs, including the non-synonymous polymorphisms 911T/C and 946A/C, resulting in corresponding 299V/A and 311T/P amino acid polymorphisms. Of the SNPs, 651A/G was preliminarily suggested as a useful marker for litter size of the second parity in the population studied, showing an overdominance effect. Polymorphisms, sequence, and genotype distributions were also characterized.
Chronically elevated interleukin-6 (IL-6) affects lipid and lipoprotein metabolism. Individuals genetically predisposed to higher IL-6 secretion may be at risk of dyslipidemia, especially during the...Full Text Available
BackgroundCastor bean (Ricinus communis) is an agricultural crop and garden ornamental that is widely cultivated and has been introduced worldwide. Understanding...Full Text Available
Apolipoprotein (apo) A-IV is a polymorphic, intestinally derived apolipoprotein that is genetically linked to and similar in structure to apoA-I, the major apolipoprotein in high density lipoproteins...Full Text Available
Plasmodium falciparum, the causative agent of human malaria, invades host erythrocytes using several proteins on the surface of the invasive merozoite, which have been proposed...Full Text Available
Human longevity is in part genetically determined, and the insulin/IGF-1 signal transduction (IIS) pathway has consistently been implicated. In humans, type 2 diabetes is a frequent disease that results...Full Text Available
Linkage disequilibrium (LD) between densely spaced, polymorphicgenetic markers in humans and other species contains information about historical population size. Inferring past population size is of...Full Text Available
With the advent of dense maps of human genetic variation, it is now possible to detect positive natural selection across the human genome. Here we report an analysis of over 3 million polymorphisms...Full Text Available
It is widely accepted that specific human papillomavirus (HPV) types are the central etiologic agent of cervical carcinogenesis. However, a number of infected women do not develop invasive lesions,...Full Text Available
Endometrial carcinoma is the most commonly diagnosed gynaecological cancer in developed countries. Although the molecular genetics of this disease has been in the focus of many research laboratories...Full Text Available
Abstract The white sea bream, Diplodus sargus (Teleostei, Sparidae), is a species with a high commercial importance in Mediterranean aquaculture. There is currently little information available about the genetic characteristics of cultured populations. In this survey, we have developed eight polymorphic microsatellites for the white sea bream using an enriched genome library protocol. All of them were polymorphic in the 67 individuals tested, 32 of which were wild specimens, and 35 were individuals from a captive F1 broodstock. These markers can potentially be useful tools for use in population genetic studies.
Staphylococcal cassette chromosome mec (SCCmec) is a mobile genetic element characterized by flanking terminal direct and, in most cases, inverted repeat sequences,...Full Text Available
Abstract Polymorphisms in the genomic DNA of eight varieties maintained by conventional bud propagation (via rhizomes) and by in vitro shoot tip cultures were detected by RAPD analysis of sugarcane varieties. The study estimated the genetic diversity induced after in vitro multiplication of these varieties. Higher (28.9%) and lower (12%) numbers of polymorphic bands were detected in plants propagated via rhizomes; the genetic similarity estimate varying from 0.63 to 0.80. Plants of SP90-3723 and SP91-1049, or RB85-5113 and SP90-3723, varieties involving greater genetic distances may be indicated as progenitors in breeding programmes. In vitro multiplication of RB86-7515, RB85-5113, RB83-5054 and SP86-42 varieties increases genetic variability, while in vitro multiplication of SP91-1049, SP...
In this work, we report for the first time on the analysis of genetic diversity within a set of 36 Tunisian Opuntia ficus indica (L.) Mill. ecotypes using RAPD markers.Random decamer primers were screened to assess their ability to detect polymorphisms in this plant crop. Thirty-nine RAPD markers were revealed and used to survey the genetic diversity at the DNA level and to establish relationships.Consequently, considerable genetic diversity was detected and the UPGMA analysis permitted the discrimination of all the genotypes and enabled their sorting into thirteen groups. The accession `R Sbiba inerme' was significantly divergent from all tested genotypes. In addition, as shown by the clustering the tested genotypes did not significantly diverge, though originating from different localiti...
The gilthead seabream, Sparus aurata, represents an important economic resource for Mediterranean aquaculture. In spite of its wide geographic distribution and economic importance, only recently studies have been carried out on the genetic composition of natural populations, which have revealed a picture of a heterogeneous degree of genetic differentiation among S. aurata populations. In this study an allozyme analysis of samples from six different collecting sites along the Italian and Croatian coasts was carried out, covering an area in the Central Mediterranean sea that has yet to be investigated through gene-enzyme systems. Data on 26 gene loci, 10 of which are polymorphic, indicate a slight but significant genetic structure (FST = 0.0167) of the species. A hierarchical analysis of pop...
Huntington?s disease (HD) is caused by an expansion of a polyglutamine repeat of more than 35?units in the huntingtin protein. The expanded repeat length is inversely correlated with the age at onset (AAO); however, additional genetic factors apart from the expanded CAG repeat length can modify the course and the AAO in HD. Aberrations in macroautophagy have been observed in Huntington, Alzheimer, Parkinson, motor neuron and prion diseases. Therefore, we hypothesized that polymorphisms in autophagy-related (Atg) genes might contribute to the variation in the AAO. We initially tested eight single nucleotide polymorphisms in five Atg genes (Atg3, Atg5, Atg7, Atg16L1 and Beclin-1) for their frequency of ?1%. Subsequently, we investigated the polymorphisms Atg7 V471A and Atg16L1 T281A for a di...
Defects in mismatch repair genes cause the genetic instability characteristic of hereditary nonpolyposis colorectal cancer and a subset of sporadic colon tumors. The newest member of the mismatch repair gene family, GTBP, has recently been identified as a partial cDNA. Here, we describe the isolation of its 5{prime} terminus, allowing definition of the entire coding region. Several polymorphisms within the 5{prime} end were identified and are presented. 13 refs., 1 fig.
B vitamins and polymorphisms in genes coding for enzymes involved in one-carbon metabolism may affect DNA synthesis and methylation and thereby be implicated in carcinogenesis. Previous data on vitamins B2 and B6 and geneticpolymorphisms other than those involving MTHFR as risk factors for gastric cancer (GC) are sparse and inconsistent. In this case-control study nested within the European Prospective Investigation into Cancer and Nutrition cohort, cases (n = 235) and controls (n = 601) were matched for study center, age, sex, and time of blood sampling. B2 and B6 species were measured in plasma, and the sum of riboflavin and flavin mononucleotide was used as the main exposure variable for vitamin B2 status, whereas the sum of pyridoxal 5'-phosphate, pyridoxal, and 4-pyridoxic acid was used to define vitamin B6 status. In addition, we determined eight polymorphisms related to one-carbon metabolism. ...
Occurrence of genetic variants during micropropagation is occasionally encountered when the cultures are maintained in vitro for long period. Therefore, the micropropagated multiple shoots of Vanilla planifolia Andrews developed from axillary bud explants established 10 years ago were used to determine somaclonal variation using random amplified polymorphic DNA (RAPD) and intersimple sequence repeats markers (ISSR). One thousand micro-plants were established in soil of which 95 plantlets (consisting of four phenotypes) along with the mother plant were subjected to genetic analyses using RAPD and ISSR markers. Out of the 45 RAPD and 20 ISSR primers screened, 30 RAPD and 7 ISSR primers showed 317 clear, distinct and reproducible band classes resulting in a total of 30 115 bands. However, no ...
Background and objectives.Thymidylate synthase (TS) expression levels appear to be related to response to 5-fluorouracil-(5-FU)-based chemotherapy in colorectal cancer (CRC) patients. Three polymorphisms have been proposed as modulators of TS expression: a tandemly repeated sequence (2R/3R) in the 5? UTR, a SNP (G > C) within the 3R allele and a 6 bp deletion in the 3' UTR.To evaluate the influence of TS expression and polymorphisms on clinical outcome of 5-FU-treated patients we performed a comprehensive genetic analysis on 63 CRC patients.Methods.TS expression levels were analyzed in normal and tumor tissues. TS coding sequence and UTR polymorphisms were investigated on DNA from normal tissue. LOH analysis was performed to determine tumor genotype.Results.A difference in disease-free sur...
Lebers hereditary optic neuropathy (LHON), the most frequent mitochondrial disorder, is mostly due to three mitochondrial DNA (mtDNA) mutations in respiratory chain complex I subunit genes: 3460/ND1, 11778/ND4 and 14484/ND6. Despite considerable clinical evidences, a genetic modifying role of the mtDNA haplogroup background in the clinical expression of LHON remains experimentally unproven. We investigated the effect of mtDNA haplogroups on the assembly of oxidative phosphorylation (OXPHOS) complexes in transmitochondrial hybrids (cybrids) harboring the three common LHON mutations. The steady-state levels of respiratory chain complexes appeared normal in mutant cybrids. However, an accumulation of low molecular weight subcomplexes suggested a complex I assembly/stability defect, which was ...
Recent technological developments have facilitated intensified searches for genetic markers under selection in nonmodel species. Here, we present an approach for the identification of candidate gene variation in nonmodel organisms. We report on the characterization of 82 single nucleotide polymorphisms (SNPs) and on the development of a specific genotyping assay for 30 SNPs in 18 candidate genes for growth and reproduction in Atlantic cod (Gadus morhua). These markers can be used for scanning natural populations for signatures of selection in both contemporary and archived historical samples, for example in retrospective studies assessing the effects of environmental changes, such as increasing temperatures, and selection imposed by high fishing pressure. Furthermore, these gene markers may be of interest to aquaculture, serving as a starting point for linking phenotypic traits important for productivity with genotypes and potentially be of use ...
Stargardt disease (STGD) and fundus flavimaculatus are infrequent autosomal recessive conditions characterized by a juvenile macular dystrophy and variable degrees of peripheral retinal changes. Linkage analysis performed in 47 STGD/fundus flavimaculatus families demonstrated significant linkage to 13 polymorphic DNA markers on chromosome 1p. The maximum combined two-point lod score was 32.7 (maximum recombination fraction [{theta}{sub max}] = .006) with the polymorphic marker D1S188. Our data demonstrate that STGD and fundus flavimaculatus are the same disorder clinically and genetically and provide further evidence for genetic homogeneity of this phenotype. Analysis of recombination on disease chromosomes placed the STGD gene within a 4-cM interval between markers D1S435 and D1S236. A physical map was constructed of a YAC contig flanking STGD, from markers D1S500 to D1S495, and includes the critical ...
Resistance and tolerance are two types of host defense mechanisms that increase fitness in response to fungi. Several geneticpolymorphisms in pattern recognition receptors, most remarkably Toll-like receptors (TLRs), have been described to influence resistance and tolerance to aspergillosis in distinct clinical settings. TLRs on dendritic cells pivotally contribute in determining the balance between immunopathology and protective immunity to the fungus. Epithelial cells also contribute to this balance via selected TLRs converging on indoleamine-2,3-dioxygenase (IDO). Studies in experimental hematopoietic transplantation confirmed the dichotomy of pathways leading to resistance and tolerance to the fungus providing new insights on the relative contribution of the hematopoietic/nonhematopoi...
The gene encoding the human type I pituitary adenylate cyclase activating polypeptide receptor (ADCYAP1R1) was mapped to chromosome 7 by PCR analysis of genomic DNA from a human/rodent somatic cell hybrid mapping panel. This assignment was confirmed and the gene localized to chromosome band 7p14 by fluorescence in situ hybridization. A yeast artificial chromosome containing ADCYAP1R1 was identified in the CEPH {open_quotes}B{close_quotes} Mega-YAC library. This YAC includes two highly polymorphic dinucleotide repeat sequences that will facilitate genetic studies of the contribution of ADCYAP1R1 in disease states of the central nervous and neuroendocrine systems. 13 refs., 1 fig.
The germplasm with exotic genomic components especially from Sea Island cotton (Gossypium barbadense L. Gb) is the dominant genetic resources to enhance fiber quality of upland cotton (G. hirsutum L., Gh). Due to low efficiency of phenotypic evaluation and selection on fiber quality, genetic dissection of favorable alleles using molecular markers is essential. Genetic dissection on putative Gb introgressions related to fiber traits were conducted by SSR markers with mapping populations derived from a cross between Luyuan343 (LY343), a superior fiber quality introgression line (IL) with genomic components from Gb, and an elite Upland cotton cv. Lumianyan#22 (LMY22). Among 82 polymorphic loci screened out from 4050 SSRs, 42 were identified as putative introgression alleles. A total of 29 fib...
African bovine trypanosomiasis caused by Trypanosoma sp., is a major constraint on cattle productivity in sub-Saharan Africa. Some African Bos taurus breeds are highly tolerant of infection, but the potentially more productive Bos indicus zebu breeds are much more susceptible. Zebu cattle are well adapted for plowing and haulage, and increasing their tolerance of trypanosomiasis could have a major impact on crop cultivation as well as dairy and beef production. We used three strategies to obtain short lists of candidate genes within QTL that were previously shown to regulate response to infection. We analyzed the transcriptomes of trypanotolerant N'Dama and susceptible Boran cattle after infection with Trypanosoma congolense. We sequenced EST libraries from these two breeds to identify polymorphisms that might underlie previously identified quantitative trait loci (QTL), and we assessed QTL regions and candidate loci for evidence of selective sweeps. The scan of ...
Attention deficit disorder (ADHD) is a complex biobehavioral phenotype which affects up to 8% of the general population and often impairs social, academic, and job performance. Its origins are heterogeneous, but a significant genetic component is suggested by family and twin studies. The murine strain, coloboma, displays a spontaneously hyperactive phenotype that is responsive to dextroamphetamine and has been proposed as a genetic model for ADHD. Coloboma is a semi-dominant mutation that is caused by a hemizygous deletion of the SNAP-25 and other genes on mouse chromosome 2q. To test the possibility that the human homolog of the mouse coloboma gene(s) could be responsible for ADHD, we have carried out linkage studies with polymorphic markers in the region syntenic to coloboma (20p11-p12). Five families in which the pattern of inheritance of ADHD appears to be autosomal dominant were studied. Segregation analysis of the ...
Persons with a thermolabile form of the enzyme 5,10 methylenetetrahydrofolate reductase (MTHFR) have reduced enzyme activity and increased plasma homocysteine which can be lowered by supplemental folic acid. Thermolability of the enzyme has recently been shown to be caused by a common mutation (677C{sup {r_arrow}}T) in the MTHFR gene. We studied 41 fibroblast cultures from NTD-affected fetuses and compared their genotypes with those of 109 blood specimens from individuals in the general population. 677C{sup {r_arrow}}T homozygosity was associated with a 7.2 fold increased risk for NTDs (95% confidence interval: 1.8-30.3; p value: 0.001). These preliminary data suggest that the 677C{sup {r_arrow}}T polymorphism of the MTHFR gene is a risk factor for spina bifida and anencephaly that may provide a partial biologic explanation for why folic acid prevents these types of NTD. 13 refs., 1 fig., 1 tab.
Stargardt`s disease is inherited as an autosomal recessive condition characterized by a juvenile macular dystrophy. Genetic linkage analysis recently assigned the disease locus to chromosome 1p21-p13 with the best estimate for location of the gene near the locus D1S435. We performed linkage analysis in 34 North American families and 2 inbred families from the Kingdom of Saudi Arabia with 12 highly polymorphic markers on chromosome 1p flanking D1S435 between D1S207 and D1S223 and report significant linkage for all 12 markers with no evidence for genetic heterogeneity. Two-point linkage analysis demonstrated the Stargardt`s disease locus and D1S435 are linked with a maximum lod score of 17.17 at a recombination fraction of 1%. The markers UT851, D1S188, D1S424, UT2069, and D1S236 also demonstrated recombination fractions of 1% or less with two-point lod scores of 15.86, 21.93, 16.41, 20.36, and 17.37, respectively. To ...
It is becoming clear that simple sequence repeats (SSRs) play a significant role in fungal genome organization, and they are a large source of genetic markers for population genetics and meiotic maps. We identified SSRs in the Laccaria bicolor genome by in silico survey and analyzed their distribution in the different genomic regions. We also compared the abundance and distribution of SSRs in L. bicolor with those of the following fungal genomes: Phanerochaete chrysosporium, Coprinopsis cinerea, Ustilago maydis, Cryptococcus neoformans, Aspergillus nidulans, Magnaporthe grisea, Neurospora crassa and Saccharomyces cerevisiae. Using the MISA computer program, we detected 277,062 SSRs in the L. bicolor genome representing 8% of the assembled genomic sequence. Among the analyzed basidiomycetes, L. bicolor exhibited the highest SSR density although no correlation between relative abundance and the genome sizes was observed. In most genomes the short ...
Abstract in english Functional properties of soy proteins for food are closely related to the composition of their storage protein subunits. Using base excision sequence scanning (BESS), we show that the absence of the A4 peptide in the G4 glycinin subunit of the soybean (Glycine max L.) cultivar Enrei was caused by the same point mutation in the Gy4 gene as previously reported in the soybean cultivar Raiden. Although the genetic relationship between Raiden and Enrei is not known, the same p (more) oint mutation in their Gy4 genes may indicate that they probably share a related origin. The application of BESS to identify single nucleotide polymorphisms (SNPs) as co-dominant markers for marker-assisted selection (MAS) of a recessive null allele is also discussed.
The sequencing and detailed comparative functional analysis of genomes of a number of select botanical models open new doors into comparative genomics among the angiosperms, with potential benefits for improvement of many orphan crops that feed large populations. In this study, a set of simple sequence repeat (SSR) markers was developed by mining the expressed sequence tag (EST) database of sorghum. Among the SSR-containing sequences, only those sharing considerable homology with rice genomic sequences across the lengths of the 12 rice chromosomes were selected. Thus, 600 SSR-containing sorghum EST sequences (50 homologous sequences on each of the 12 rice chromosomes) were selected, with the intention of providing coverage for corresponding homologous regions of the sorghum genome. Primer pairs were designed and polymorphism detection ability was assessed using parental pairs of two existing sorghum mapping populations. About 28% of these new markers detected ...
Mutations in the mouse formin (Fmn) gene, formerly known as the limb deformity (ld) gene, give rise to recessively inherited limb deformities and renal malformations or aplasia. The Fmn gene encodes many differentially processed transcripts that are expressed in both adult and embryonic tissues. To study the genomic organization of the Fmn locus, we have used Fmn probes to isolate and characterize genomic clones spanning 500 kb. Our analysis of these clones shows that the Fmn gene is composed of at least 24 exons and spans 400 kb. We have identified two novel exons that are expressed in the developing embryonic limb bud as well as adult tissues such as brain and kidney. We have also used a microsatellite polymorphism from within the Fmn gene to map it genetically to a 2.2-cM interval between D2Mit58 and D2Mit103. 36 refs., 6 figs., 1 tab.
Repetitive hydatidiform mole was observed in four pregnancies. The pregnancies presented with heavy bleeding and vomiting, but the post-evacuation courses were uncomplicated, with rapid regression of serum hCG levels. Cytogenetic investigations, analyses of restriction fragment length polymorphisms, and flow cytometry in three pregnancies were consistent with diploid, biparental conception as the origin of fetal tissue and molar and nonmolar villi. In one pregnancy, the analyses of cytogenetic markers suggested the coexistence of two different cell lines of dizygotic, biparental origin, whereas DNA analysis was consistent with a single conception. With incomplete genetic information, a hydatidiform mole with coexistent normal fetus is generally considered to result from dizygous twinning comprising an androgenetic complete mole and a normal conception. In the present gestations, the results based on several techniques applied on numerous ...
Genetic analysis of resistance of plant introduction (PI) 438489B to soybean cyst nematode (SCN) have shown that this PI is highly resistant to many SCN HG types. However, validation of the previously detected quantitative trait loci (QTL) has not been done. In this study, 250 F2:3 progeny of a Magellan (susceptible)??PI 438489B (resistant) cross were used for primary genetic mapping to detect putative QTL for resistance to five SCN HG types. QTL confirmation study was subsequently conducted using F6:7 recombinant inbred lines (RILs) derived from the same cross. Simple sequence repeat (SSR) and single nucleotide polymorphism (SNP) markers were employed for molecular genotyping. Interval mapping (IM), permutation tests, cofactor selection, and composite interval mapping (CIM) were performe...
The eastern oyster (Crassostrea virginica) developed neoplastic disorders when experimentally exposed both in the laboratory and field to chemically contaminated sediment from Black Rock Harbor (BRH),...Full Text Available
Colorectal cancer is the third most common malignant tumor and the fourth-leading cause of cancer death worldwide. The crucial role of fatty acids for a number of important biological processes suggests a more in depth analysis of inter-individual differences in fatty acid metabolizing genes as contributing factor to colon carcinogenesis. We examined the association between genetic variability in 43 fatty acid metabolism-related genes and colorectal risk in 1225 CRC cases and 2032 controls participating in the European Prospective Investigation into Cancer and Nutrition study. 392 single nucleotide polymorphisms were selected using pairwise tagging with an r(2) cutoff of 0.8 and a minor allele frequency of >5%. Conditional logistic regression models were used to estimate odds ratios and corresponding 95% confidence intervals. Haplotype analysis was performed using a generalized linear model framework. On the genotype level, HPGD, PLA2G6, and ...
Objectives: The purpose of this work was to study the genetic determinants responsible for extended-spectrum beta-lactamase (ESBL) resistance of Salmonella isolated from Dutch poultry, poultry meat and hospitalized humans. Methods: Thirty-four ESBL-resistant Salmonella isolates from The Netherlands were tested towards 21 antimicrobial agents. PCR and sequencing were used to determine the underlying genetic determinants responsible for the ESBL phenotypes. The transferability of the ESBL phenotypes was tested by conjugation to a susceptible Salmonella enterica serovar Dublin and plasmid purification, restriction fragment length polymorphism (RFLP) and pulsed-field gel electrophoresis (PFGE) were employed to further characterize a subset of the isolates. Results: A great genetic diversity was seen among the isolates. The bla(TEM-52) gene was most predominant and was found among Salmonella enterica ...
There is very little known about the long-term evolution of the MHC and MHC-like molecules. This is because both the theory (the evolutionary questions and models) and the practice (the animals systems, functional assays and reagents to identify and characterize these molecules) have been difficult to develop. There is no molecular evidence yet to decide whether vertebrate immune systems (and particularly the MHC molecules) are evolutionarily related to invertebrate allorecognition systems, and the functional evidence can be interpreted either way. Even among the vertebrates, there is great heterogeneity in the quality and quantity of the immune response. The functional evidence for T-lymphocyte function in jawless and cartilagenous fish is poor, while the bony fish seem to have many characteristics of a mammalian immune system. The organization and sequence of fish Ig genes also indicate that important events in the evolution of the immune system and the MHC occurred in the fish, but ...
Aims: The present study explored the integrative effect of genes encoding methadone pharmacokinetic and pharmacodynamic pathways on methadone maintenance doses in Han Chinese Patients. Materials & methods: Genomic DNA was extracted from 321 opioid-dependent patients and 202 healthy controls, and realtime-PCR and PCR-RFLP were conducted to determine the genotypes. Results: Pair-wise comparisons revealed that carriers of the variants ABCB1 3435C>T or CYP2B6 516G>T alleles were more likely to require a higher methadone dose than noncarriers (both p G or 939C>T allele had a two-fold chance of requiring a lower methadone dose than noncarriers (p = 0.001). Proportional odds regression with adjustment of cofactors demonstrated that ...
Genome-wide association studies have linked lung cancer risk with a region of chromosome 15q25.1 containing CHRNA3, CHRNA5 and CHRNB4 encoding a3, a5 and b4 subunits of nicotinic acetylcholine receptors (nAChR), respectively. One of the strongest associations was observed for a non-silent single-nucleotide polymorphism at codon 398 in CHRNA5. Here, we have used pharmacological (antagonists) or genetic (RNA interference) interventions to modulate the activity of CHRNA5 in non-transformed bronchial cells and in lung cancer cell lines. In both cell types, silencing CHRNA5 or inhibiting receptors containing nAChR a5 with a-conotoxin MII exerted a nicotine-like effect, with increased motility and invasiveness in vitro and increasing calcium influx. The effects on motility were enhanced by addit...
as manufacturing plants and laboratories, including the Chemical Laboratory at the House of David in Benton Harbor, Michigan. Built in America: Historic Building Buildings Survey/...
... Harbor Township Vineland Voorhees Pediatric Partner Hospitals AtlantiCare Regional Medical Center- City Campus, Atlantic City AtlantiCare Regional Medical Center - ...
... modules 2 and 3, 45 ft from each end) in a ... The toe of the stone revetment was 2 ft out from the ... in parentheses are for the current meters in layout 2. ...
Crenarchaea are ubiquitous and abundant microbial constituents of soils, sediments, lakes and ocean waters, yet relatively little is known about their fundamental evolutionary, ecological, and physiological properties. To better describe the ubiquitous nonthermophilic Crenarchaea, we analyzed the genome sequence of one representative, the uncultivated sponge symbiont, Cenarchaeum symbiosum. C. symbiosum genotypes coinhabiting the same host partitioned into two dominant populations, corresponding to previously described a- and b-type ribosomal RNA variants. Although synthetic, overlapping a- and b-type ribotypes harbored significant genetic variability. A single tiling path comprising the dominant a-type genotype was assembled, and used to explore the biological properties of C. symbiosum and its planktonic relatives. Out of a total of 2,066 predicted open reading frames, 36% were more highly conserved with other Archaea. The remainder ...
We present changes in the p53 gene in a group of 70 thyroid tumours and 40 blood samples obtained from children from Belarus. Three thyroid tumours show a polymorphism in exon 6 (codon 213) and 5 tumours show a polymorphism in intron 6, 37 bp upstream to the 5'-end of exon 7. Only one patient has a mutation in exon 7 (codon 258) resulting in an amino acid substitution in the protein p53. The distribution of polymorphisms in the 40 blood samples was as follows: three patients had a polymorphism in exon 6 and two persons had a polymorphism in intron 6. One polymorphism in intron 6 was also found in the group of 30 healthy children from Belarus. The fact that the differences in the sequence in p53 found in the tumours was also seen in the blood of these patients demonstrates that they are polymorphisms not induced by radiation exposure. It is ...
Nucleotide sequence analysis of a genomic clone from an Ashkenazic Jewish patient with type 1 Gaucher disease revealed a single-base mutation (adenosine to guanosine transition) in exon 9 of the glucocerebrosidase gene. This change results in the amino acid substitution of serine for asparagine. Transient expression studies following oligonucleotide-directed mutagenesis of the normal cDNA confirmed that the mutation results in loss of glucocerebrosidase activity. Allele-specific hybridization with oligonucleotide probes demonstrated that this mutation was found exclusively in type 1 phenotype. None of the 6 type 2 patients, 11 type 3 patients, or 12 normal controls had this allele. In contrast, 15 of 24 type 1 patients had one allele with this mutation, and 3 others were homozygous for the mutation. Furthermore, some of the Ashkenazic Jewish type 1 patients had only one allele with this mutation, suggesting that even in this population there is allelic heterozygosity. These findings ...
Highly polymorphic genes with central roles in lymphocyte mediated immune surveillance are grouped together in the major histocompatibility complex (MHC) in higher vertebrates. Generally, across vertebrate...Full Text Available
This paper examines the utility of restriction fragment length polymorphisms (RFLPs) for paternity analysis. While, on the average, 99% of falsely accused males can be excluded with the standard battery...Full Text Available
BackgroundPolymorphisms in Epidermal Growth Factor Receptor (EGFR) gene may influence EGFR production and/or activity, thereby modulating susceptibility to lung...Full Text Available
Orthologous positions of 55 genes associated with height in four human populations were located on the bovine genome. Single nucleotide polymorphisms close to eight of these genes were significantly...Full Text Available
Dysregulation of the alternative pathway of complement activation, caused by mutations or polymorphisms in the genes encoding factor H, membrane co-factor protein, factor I or factor B, is associated...Full Text Available
The polymorphic phase behavior of a homologous series of n-saturated 1,2-diacyl phosphatidylethanolamines was investigated by differential scanning calorimetry, 31P-nuclear magnetic resonance, and Fourier...Full Text Available
ObjectiveLiterature data on the effects of CYP17 MspA1 polymorphism on age at menarche (AAM) are inconsistent. To reexamine this controversy, we...Full Text Available
Human arylamine N-acetyltransferase (NAT) activity is determined by two distinct genes, NAT1 and NAT2, and the classical acetylation polymorphism in NAT2 has been associated with a variety of disorders,...Full Text Available
Purpose: Patients with ataxia-telangiectasia (A-T) show greatly increased radiation sensitivity and cancer predisposition. Family studies imply that the otherwise clinically silent heterozygotes of this autosomal recessive disease run a 3.5 to 3.8 higher risk of developing cancer. In vitro studies suggest moderately increased cellular radiation sensitivity of A-T carriers. They may also show elevated clinical radiosensitivity. We retrospectively examined patients who presented with severe adverse reactions during or after standard radiation treatment for mutations in the gene responsible for A-T, ATM, considering a potential means of future identification of radiosensitive individuals prospectively to adjust dosage schedules. Material and Methods: We selected 20 cancer patients (breast, 11; rectum, 2; ENT, 2; bladder, 1; prostate, 1; anus, 1; astrocytoma, 1; Hodgkins lymphoma, 1) with Grade 3 to 4 (RTOG) acute and/or late tissue radiation side effects by reaction severity. DNA from the ...
The fungal pathogen Candida albicans is one of the leading causative agents of death in immunocompromised individuals. It harbors an arsenal of cell wall anchored factors that are implicated...Full Text Available
A single large plasmid was isolated from multiplasmid-harboring strains Rhizobium leguminosarum 1001 and R. trifolii 5. These single plasmids, as well as the largest plasmid detectable in R. phaseoli...Full Text Available
Mice harboring a null mutation in Abca4/Abcr serve as a model of autosomal recessive Stargardt disease. Consistent with the human retinal disorder, deficiency...Full Text Available
Hepatocellular carcinoma (HCC) is one of the most critical global health issues. With frequent association of viral liver disease, HCC is highly complex, harboring both cancer and chronic liver disease....Full Text Available
The long term goal is to determine the ecological importance of specific toxic metals (copper and zinc) in harbors, through an understanding of their chemistry and biological effects at the base of marine food chains. This work provides information on potential problems with Zn and Cu, which may help to foresee problems in the future. Anthropogenic inputs of both metals are increasing; they are derived from diverse sources and are a simple function of population growth in coastal regions.
This Reference Book contains a current copy of the Clean Water Act (Section 404) and the Rivers and Harbors Act (Sections 9 and 10) and those regulations that implement those sections of the statutes and appear to be most relevant to DOE activities. The document is provided to DOE and contractor staff for informational purposes only and should not be interpreted as legal guidance. Updates that include important new requirements will be provided periodically. Questions concerning this Reference Book may be directed to Mark Petts, IH-231 (FTS 896-2609 or Commercial 202/586-2609).
This Reference Book contains a current copy of the Clean Water Act (Section 404) and the Rivers and Harbors Act (Sections 9 and 10) and those regulations that implement those sections of the statutes and appear to be most relevant to DOE activities. The document is provided to DOE and contractor staff for informational purposes only and should not be interpreted as legal guidance. Updates that include important new requirements will be provided periodically. Questions concerning this Reference Book may be directed to Mark Petts, IH-231 (FTS 896-2609 or Commercial 202/586-2609).
local peanut cultivars Giza 4 and Giza 5 were exposed to different doses ( 50,100,150,200,250 and 300 Gy)to Co "6"0 gamma ray source . all irradiated materials were cultivated to give the M_1 and M_2 generation , then high yielding mutants were selected from the M_2 generation and cultivated separately to give the M_3 generation. some yield component traits were measured for the three generations (M_1,M_2 and M_3) and M_3 families.variations observed in these traits were attributed to genetic factors. the M_3 selected mutants were artificially infected by aspergillus flavus L spores (aflatoxins-B1 and B2 groups-producer strain). aflatoxin concentrations were estimated and the analysis showed that aflatoxin concentrations in seeds of the M_3 selected mutants from cultivar Giza 4 were higher than those in seeds of the M3 mutants selected from cultivar Giza 5. however, the concentration of aflatoxin increased when the yield ( weight of seeds per plant trait) ...
Cockayne syndrome (CS) is a rare autosomal recessive disease, which shows diverse clinical symptoms such as photosensitivity, severe mental retardation and developmental defects. CS cells are hypersensitive to killing by ultraviolet (UV)-irradiation and defective in transcription-coupled repair. Two genetic complementation groups in CS (CS-A and CS-B) have been identified. We analyzed mutations of the CSA gene in 5 CS-A patients and identified 3 types of mutations. Four unrelated CS-A patients (CS2OS, CS2AW, Nps2 and CS2SE) had a deletion including exon 4, suggesting that there is a founder effect on the CSA mutation in Japanese CS-A patients. Patient CS2SE was a compound heterozygote for this deletion and an amino acid substitution at the 106th glutamine to proline (Q106P) in the WD-40 repeat motif of the CSA protein, which resulted in a defective nucleotide excision repair. Patient Mps1 had a large deletion in the upstream region including exon 1 of the CSA gene. ...
The penetrance of Leber's hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in different affected pedigrees. Here we describe two large Chinese families that show a striking difference in the penetrance of LHON, in which 53.3% and 15.0% of members were affected (P < 0.02), respectively. Analysis of the complete mtDNA genome of the two families revealed the presence of the primary mutation G11778A and several other variants suggesting the same haplogroup status G2a. The family with higher penetrance contained a previously described secondary mutation G13708A, which presents a polymorphism in normal Chinese samples and does not affect in vivo mitochondrial oxidative metabolism as described in a previous study. Evolutionary analysis failed to indicate any ...
The penetrance of Leber's hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in different affected pedigrees. Here we describe two large Chinese families that show a striking difference in the penetrance of LHON, in which 53.3% and 15.0% of members were affected (P < 0.02), respectively. Analysis of the complete mtDNA genome of the two families revealed the presence of the primary mutation G11778A and several other variants suggesting the same haplogroup status G2a. The family with higher penetrance contained a previously described secondary mutation G13708A, which presents a polymorphism in normal Chinese samples and does not affect in vivo mitochondrial oxidative metabolism as described in a previous study. Evolutionary analysis failed to indicate any putatively ...
A gene designated BRCA1, implicated in the susceptibility to early-onset familial breast cancer, has recently been localized to chromosome 17q12-q21. To date, the order of DNA markers mapped within this region has been based on genetic linkage analysis. The authors report the use of multicolor fluorescence in situ hybridization to establish a physically based map of five polymorphic DNA markers and 10 cloned genes spanning this region. Three cosmid clones and Alu-PCR-Generated products derived from 12 yeast artificial chromosome clones representing each of these markers were used in two-color mapping experiments to determine an initial proximity of markers relative to each other on metaphase chromosomes. Interphase mapping was then employed to determine the order and orientation of closely spaced loci by direct visualization of fluorescent signals following hybridization of three probes, each detected in a different color. Statistical analysis ...
Previous karyotypic studies have indicated a possible series of non-random chromosomal events involved in the progression of melanoma. We sought to define a model of melanocyte tumorigenesis by studying allelic deletions of polymorphic simple tandem repeat markers mapping to chromosome 1, 6q, 7, 9p, 10, 11, 17, and 21 in thirty matched pairs of melanoma and constitutional DNAs. The most frequent and earliest deletions were found on 9p (57%) and 10q (32%) and with the exception of one case, no sample has loss of markers on another chromosome without concomitant loss of markers on 9p and/or 10q. Losses on 6q were also a frequent (32%) event that sometimes occurred in primary melanomas, whereas losses of loci on distal 1p (26%) or 11q (26%) occurred only in metastic melanomas. A background rate (0-17%) of allele loss was seen on chromosomes 7, 17, and 21. Homozygous deletions in a panel of 31 melanoma cell lines were only detected for markers on 9p (4 cases). These ...
Genetics, Genomics, and Molecular Biology USGS scientists develop and integrate new genetic and molecular techniques into systematic analyses to describe individuals and populations of fish .....
BackgroundWith a growing number of genetic tests becoming available to the health and consumer markets, genetic health care providers in Canada are faced with the challenge of developing...Full Text Available
The accelerating development of biochemical and DNA-based diagnostic tests for human genetic conditions in the last decade has engendered a revolution in genetic diagnosis. Both genetic testing and...Full Text Available
BackgroundThe 516G > T polymorphism in exon 4 of the CYP2B6 gene has been associated with increased plasma Efavirenz (EFV) concentrations. EFV concentrations...Full Text Available
PurposeTo examine the association of age-related macular degeneration (AMD) with HtrA serine peptidase 1 (HTRA1) gene rs11200638 G→A polymorphism and LOC387715/...Full Text Available
Nineteen fungal strains having an ability to oxidize elemental sulfur in mineral salts medium were isolated from deteriorated sandstones of Angkor monuments. These fungi formed clearing zone on agar medium supplemented with powder sulfur due to the dissolution of sulfur. Representative of the isolates, strain THIF01, was identified as Fusarium solani on the basis of morphological characteristics and phylogenetic analyses. PCR amplification targeting 16S rRNA gene and analyses of full 16S rRNA gene sequence indicated strain THIF01 harbors an endobacterium Bradyrhizobium sp.; however, involvement of the bacterium in the sulfur oxidation is still unclear. Strain THIF01 oxidized elemental sulfur to thiosulfate and then sulfate. Germination of the spores of strain THIF01 was observed in a liqui...
A 269-kilobase conjugative plasmid, pK29, from a Klebsiella pneumoniae strain was sequenced. The plasmid harbors multiple antimicrobial resistance genes, including those encoding CMY-8...Full Text Available
The Bacillus anthracis Sterne plasmid pXO1 was sequenced by random, “shotgun” cloning. A circular sequence of 181,654 bp was generated. One hundred forty-three open...Full Text Available
The effects of sodium ions on the uptake of Hg2+ and induction of the Tn21 mer operon were studied by using Escherichia coli HMS174 harboring the reporter plasmids pRB28 and pOS14. Plasmid pRB28 carries...Full Text Available
...Resort and Convention Center, National Harbor, Maryland, USA September 18-20, 2011 XX HELSINKI DRUG RESEARCH CONGRESS Helsinki, Finland October 23-27, 2011 2011 AAPS Annual Meeting and Exposition Washington Convention Center Washington, DC June 26-29 2012 10th International Symposium on Pharmaceutical Sciences Ankara, Turkey Printer-friendly version Home | Elsevier ...
HEW is operating one of the biggest district heating networks of the Federal Republic of Germany. The paper discusses a number of projects which in recent years have been engaged in extensive air pollution abatement measures to make district heating an environmentally compatible energy source. Emphasis is placed on the hot gas cleanup system of block 2 of the harbor power plant. The system is the first of its kind to have realized an SCR system connected with the desulfurization system for industrial denitrification purposes.
Richmond Harbor is on the eastern shoreline of central San Francisco Bay and its access channels and several of the shipping berths are no longer wide or deep enough to accommodate modem deeper-draft vessels. The Water Resources Development Act of 1986 (PL99-662) authorized the US Army Corps of Engineers (USACE), San Francisco District to deepen and widen the navigation channels in Richmond Harbor. Several options for disposal of the material from this dredging project are under consideration by USACE: disposal within San Francisco Bay, at open-ocean disposal sites, or at uplands disposal sites. Purpose of this study was to conduct comprehensive evaluations, including chemical, biological, and bioaccumulation testing of sediments in selected areas of Richmond Harbor. This information was required by the Environmental Protection Agency (EPA) and USACE. Battelle/Marine Sciences Laboratory collected 20 core samples, both 4-in. ...
The eastern oyster (Crassostrea virginica) developed neoplastic disorders when experimentally exposed both in the laboratory and field to chemically contaminated sediment from Black Rock Harbor (BRH), Bridgeport, Connecticut. Neoplasia was observed in oysters after 30 or 60 days of continuous exposure in a laboratory flow-through system to a 20 mg/L suspension of BRH sediment plus postexposure periods of 3, 30, or 60 days. Composite tumor incidence was 13.6% for both exposures. Tumor occurrence was highest in the renal excretory epithelium, followed in order by gill, gonad, gastrointestinal, heart, and embryonic neural tissue. Regression of experimental neoplasia was not observed when the stimulus was discontinued. In field experiments, gill neoplasms developed in oysters, deployed in cages for 30 days at BRH and 36 days at a BRH dredge material disposal area in Central Long Island Sound, and kidney and gastrointestinal neoplasms developed in caged oysters deployed ...
Four Escherichia coli isolates harboring CTX-M-14, with a single Ala231→Val substitution compared to CTX-M-9, had three different ribotypes. Cefotaxime resistance was plasmid...Full Text Available
Recently, there has been significant progress in the development of genetically-engineered mouse (GEM) models. By introducing genetic alterations and/or signaling alterations of human pancreatic cancer...Full Text Available
Gene expression data has been used in lieu of phenotype in both classical and quantitative genetic settings. These two disciplines have separate approaches to measuring and interpreting epistasis, which...Full Text Available
BackgroundA goal of human genetics is to discover genetic factors that influence individuals' susceptibility to common diseases. Most common diseases are thought to result from the...Full Text Available
Partial epilepsies have a substantial heritability. However, the actual genetic causes are largely unknown. In contrast to many other common diseases for which genetic association-studies have successfully...Full Text Available
Objective. Preterm neonates are susceptible to infection due to a combination of sub-optimal immunity and increased exposure to invasive organisms. Invasive fungal infections are associated with significant morbidity and mortality among preterm infants cared for in the neonatal intensive care unit (NICU). Mannose-binding lectin (MBL) is a component of the innate immune system, which may be especially important in the neonatal setting. The objective of this study was to investigate the presence of any association between MBL gene polymorphism and nosocomial invasive fungal infection in preterm neonates. Methods. Codon 54 (B allele) polymorphism in exon 1 of the MBL gene was investigated in 31 patients diagnosed as nosocomial invasive fungal infection and 30 control preterm neonates. Results...
A 4.0 kb TaqI fragment of cosmid EFD64 isolated by a HBV-3 oligonucleotide was subcloned into AccI site of pUC18. MspI identifies 5 allelic VNTR polymorphism with bands between 2.6 and 4.6 kb. RsaI, TaqI, EcoRI, BamHI, HindIII and PvuII identify the same VNTR polymorphism. With RsaI, 80% heterozygosity were observed in 80 unrelated Caucasians. This RFLP pEFD64.2 has been assigned to chromosome 3 by linkage analysis with loci (APOD) known to span this chromosome. Co-dominant segregation for the RsaI RFLP was observed in 40 three generation families. RFLPs were observed under the normal hybridization and washing condition.
BackgroundGenetic predisposition to scrapie in sheep is associated with several variations in the peptide sequence of the prion protein gene (PRNP). DNA-based tests...Full Text Available
The Molecular Genetics and Carcinogenesis Section conducts studies using human epithelial cells to assess: activation of proto-oncogenes by chemical and physical carcinogens; inactivation and dysregulation of tumor suppressor genes by chemical and physical
Mice are an ideal mammalian model for studying the genetics of aging: considerable resources are available, the generation time is short, and the environment can be easily controlled, an important...Full Text Available
The Liver Carcinogenesis Section uses the modern technologies of molecular biology, cell biology, protein chemistry and genetics to investigate the biochemical and genetic pathways involved in human liver cancer.
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To evaluate the role of chronic inflammation in the development of gallstones and biliary tract cancer, we examined the risk associated with 62 single nucleotide polymorphisms (SNPs), including...Full Text Available
There is a quest for the development of a new generation of vaccines consisting of well-defined subunit antigens. For a number of practical reasons it is attractive to develop vaccines on the basis...Full Text Available
The functional outcome after stroke is unpredictable; it is not accurately predicted by clinical pictures upon hospital admission. The presence of apoptotic neurons in the ischemic penumbra and perihematoma...Full Text Available
Irritable bowel syndrome is a frequent gastrointestinal disorder of unknown etiology. The serotonin transporter regulates the intensity and duration of serotonin signaling in the gut and is,...Full Text Available
The length polymorphism of the serotonin (5-HT) transporter gene promoter region has been implicated in altered 5-HT function and, in turn, neuropsychiatric illnesses, such as anxiety and depression....Full Text Available
Zaprionus indianus was first recorded in Brazil in 1999 and rapidly spread throughout the country. We have obtained data on esterase loci polymorphisms (Est2 and Est3), and analyzed...Full Text Available
We use high-density single nucleotide polymorphism (SNP) genotyping microarrays to demonstrate the ability to accurately and robustly determine whether individuals are in a complex genomic DNA mixture....Full Text Available
Copy number variants (CNVs) are an important component of genomic variation in humans and other mammals. Similar de novo deletions and duplications, or copy number changes (CNCs), are now known to be...Full Text Available
Variant alleles of the mannose binding lectin (MBL) gene are associated with increased susceptibility to infection and polymorphisms of tumour necrosis factor and lymphotoxin alpha genes (TNF, LTA)...Full Text Available
Randomly amplified polymorphic DNA (RAPD) analysis and the PCR assay were used in combination with dilution plating on a semiselective medium to detect and enumerate propagules of Trichoderma...Full Text Available
Recognition of HIV-1 ssRNA by TLR7 induces the production of the pro-inflammatory cytokines that may contribute to the systemic immune activation associated with HIV-1 disease progression. Here...Full Text Available
Borrelia burgdorferi is the causative agent of Lyme disease, a tick-borne spirochetosis with a worldwide prevalence. To assist the categorization and typing of fresh isolates from global foci, we have...Full Text Available
The sequences of the internal transcribed spacer (ITS) ribosomal DNA (rDNA) domain data obtained by restriction fragment length polymorphism analysis with 18S rDNA and fingerprinting (M13) for clinical...Full Text Available
In the course of a prenatal diagnosis for beta thalassaemia by linkage analysis of restriction fragment length polymorphisms, a homozygous beta thalassaemia fetus was misdiagnosed as beta thalassaemia...Full Text Available
BackgroundGrapevine is subjected to numerous pests and diseases resulting in the use of phytochemicals in large quantities. The will to decrease the use of phytochemicals leads to...Full Text Available
BackgroundLead poisoning affects many organs in the body. Lead inhibits δ-aminolevulinic acid dehydratase (ALAD), an enzyme with two co-dominantly expressed alleles, ALAD1...Full Text Available
Major histocompatibility complex (MHC) genes are highly polymorphic components of the vertebrate immune system, which play a key role in pathogen resistance. MHC genes may also function as odour-related...Full Text Available
The detailing of the intermolecular interactions in dense solid oxygen is essential for an understanding of the rich polymorphism and remarkable properties of this element at high pressure. Synchrotron...Full Text Available
BackgroundRecently, the discovery of copy number variation (CNV) led researchers to think that there are more variations of genomic DNA than initially believed. Moreover, a certain...Full Text Available
Background & objectives:Acanthamoeba keratitis (AK) is a painful and vision-threatening ocular infection. The differentiation of Acanthamoeba...Full Text Available
Self-incompatibility (SI) is widespread in the angiosperms, but identifying the biochemical components of SI mechanisms has proven to be difficult in most lineages. Coffea (coffee;...Full Text Available
Cervical cancer is emerging as a leading cause of morbidity and mortality in women worldwide. Toll-like Receptor (TLR) gene polymorphisms may contribute to subsequent inter-individual variability in cancer susceptibility. The present study aimed to identify the role of TLR 3 (c.1377C/T) [rs3775290] and TLR 9 (G2848A) [rs352140] gene polymorphisms in the risk of developing cervical cancer in North India. Peripheral blood samples were collected from 200 histopathologically confirmed cervical cancer patients from North India and 200 unrelated, cancer-free, age-matched healthy female controls of similar ethnicity. Genomic DNA was extracted using the salting-out method, and genotyped for TLR 3 and TLR 9 using polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP). O...
There is increasing evidence of a biochemical link between lipid oxidation and bone metabolism. Paraoxonase 1 (PON1) prevents the oxidation of low-density lipoprotein (LDL) and metabolizes biologically...Full Text Available
Background and aims: Serotonin (5-hydroxtryptamine, 5-HT) is an important factor in gut function, playing key roles in intestinal peristalsis and secretion, and in sensory...Full Text Available
There is a growing evidence that serotoninergic systems modulate dopaminergic neurotransmission. We analyzed the association between the variations in the brain tryptophan hydroxylase 2 (TPH2)...Full Text Available
We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and...Full Text Available
Flow cytogenetics is a rapidly developing technology which complements rather than supplants the traditional methods of cytogenetic analysis. As an adjunctive approach to chromosome classification, flow systems measurements of isolated chromosomes give new information relative to the enrichment of A-T or G-C base sequences on specific chromosomes. As a result, chromosomal fluorescence polymorphisms both within and among individuals that are not always associated with banding polymorphisms can be detected. Finally, flow sorting provides bulk quantities of highly purified chromosomes for use in biochemical studies. Methodology is detailed. (PSB)
BackgroundCotton, with a large genome, is an important crop throughout the world. A high-density genetic linkage map is the prerequisite for cotton genetics and breeding. A genetic...Full Text Available
Comparative sequence analysis of the human and the pufferfish Fugu rubripes (fugu) genomes has revealed several novel functional coding and noncoding regions in the human genome. In particular, the fugu genome has been extremely valuable for identifying transcriptional regulatory elements in human loci harboring unusually high levels of evolutionary conservation to rodent genomes. In such regions, the large evolutionary distance between human and fishes provides an additional filter through which functional noncoding elements can be detected with high efficiency.
Tohoku Electric Power Co., Ltd., is now building an LNG-fired No. 4 System (combined cycle of 1.61-million kW) for its Higashi Niigata Thermoelectric Power Station sited in the Niigata East Harbor industrial zone. This is a unit that aims at a thermal efficiency of 50% first in the world by using high-efficiency gas turbines, etc. After the completion of the No. 4 System, the station (No. 1 Machine, No. 2 Machine; No. 3 System, No. 4 System; Harbor No. 1 Machine, Harbor No. 2 Machine) will be generating a total power of 4.6kW, providing the company with its maximum power source which ranks among the largest-grade thermoelectric power stations in this country. Since the construction work was started in April, 1996, approximately 40% had been completed as of March-end, 1997, including foundations for the power station main building, stack, etc. The power station main building uses a raft foundation while the boilers and stack ...
Summary The objective of this study was to quantify the genetic diversity among breeds under evaluation for tropical adaptability traits that affect the performance of beef cattle at the USDA/ARS SubTropical Agricultural Research Station (STARS) near Brooksville, FL, USA. Twenty-six microsatellite loci were used to estimate parameters of genetic diversity among the breeds American Brahman, Angus, Senepol and Romosinuano; the latter was comprised of two distinct bloodlines (Costa Rican and Venezuelan). Genotypes of 47 animals from each of these STARS herds were analysed for genetic diversity and genetic distance. Using two methods, the greatest genetic distance was detected between the Costa Rican line of Romosinuano and the Senepol. Gene diversity ranged between 0.64 (Costa Rican line of R...
The authors report the cloning, sequencing, and mapping of three short sequence repeat polymorphisms due to tetranucleotide (TAAA) repeats from human chromosome 21. These DNA markers (D21S221, D21S225, D21S226) have been cloned from the chromosome 21-specific plasmid library of J. C. Fuscoe, C. C. Collins, D. Pinkel, and J. W. Gray and were shown to be polymorphic by polymerase chain reaction amplification and polyacrylamide gel electrophoresis. Genotypes were determined in informative CEPH pedigrees and used in linkage analysis relative to other mapped markers on human chromosome 21. One of these markers, D21S221, is closely linked to the amyloid precursor protein gene (APP), which has been implicated in the etiology of familial Alzheimer disease in some families. 18 refs., 3 figs., 2 tabs.
Over the last decade, the use of the zebrafish as a genetic model has moved beyond the proof-of-concept for the analysis of vertebrate embryonic development to demonstrated utility as a mainstream...Full Text Available
Forward and reverse genetic experiments have both played important roles in revealing critical aspects of mammalian signal transduction pathways in cell culture experiments. Only recently have we begun...Full Text Available
Current genome-wide association studies (GWAS) are moving towards the use of large cohorts of primary cell lines to study a disease of interest and to assign biological relevance to the genetic signals...Full Text Available
Although genetic engineering techniques for baker's yeast might improve the yeast's fermentation characteristics, the lack of scientific data on the survival of such strains in natural environments...Full Text Available
Genetically identical rhesus monkeys would have tremendous utility as models for the study of human disease and would be particularly valuable for vaccine trials and tissue transplantation studies where...Full Text Available
Dairy cattle of three genetic lines maintained year round in total confinement (either in loose housing or tie stall barn) were monitored for estrous cycle activity and reproductive performance. Only...Full Text Available
The achievements made in the field of radiation protection over the past 20 years are outlined. Risk analysis as applied to medicine is considered and genetic significant doses, genetic risks, somatic effective doses and somatic risks are discussed. (C.F.).
A computer program, RISK-XLR, which calculates genetic risk for carrier status of a Mendelian X-linked recessive condition has been written for the Macintosh series of microcomputers. The program,...Full Text Available
Plants have too long been ignored as useful screening and monitoring systems of environmental mutagens. However, there are about a dozen reliable, some even unique, plant genetic systems that can increase...Full Text Available
AbstractGenetic-variant analysis of rabies viruses provides the most sensitive epidemiologic tool for following the spread and persistence of these viruses in their wildlife hosts. Since...Full Text Available
Auxin modulates diverse plant developmental pathways through direct transcriptional regulation and cooperative signaling with other plant hormones. Genetic and biochemical approaches have clarified...Full Text Available
BackgroundThe long-term goal of the GKDZI (Genetics of Kidney Disease in Zuni Indians) Study is to identify genes, environmental factors, and genetic-environmental...Full Text Available
The continued evolution of bacterial pathogens has major implications for both human and animal disease, but the exchange of genetic material between host-restricted pathogens is rarely considered....Full Text Available
Our understanding of the genetic basis of systemic lupus erythematosus (SLE) has been rapidly advanced using large-scale, case–control, candidate gene studies as well as genome-wide...Full Text Available
Mood and anxiety disorders and rodent phenotypic measures modeling these disorders have a strong genetic component. Various assays are used to study the neurobiological basis of fear- and anxiety-related...Full Text Available
BackgroundStress fractures are a significant problem among athletes and soldiers and may result in devastating complications or even permanent handicap. Genetic factors may increase...Full Text Available
We report on genetic identification of ‘whale meat’ purchased in sushi restaurants in Los Angeles, CA (USA) in October 2009 and in Seoul, South Korea in June and September 2009. Phylogenetic...Full Text Available
Over the past two decades, combined advances in genetics, developmental biology and biochemistry have transformed the study of human birth defects. This review describes the importance of genome architecture,...Full Text Available
The genetic architecture of complex traits underlying physiology and disease in most organisms remains elusive. We still know little about the number of genes that underlie these traits, the magnitude...Full Text Available
This is the first report of research for an ongoing study to evaluate the genetic effects of using hatchery-reared fish to supplement natural populations of chinook salmon and steelhead in the Snake River Basin.
The genetic basis of odorant-specific variations in human olfactory thresholds, and in particular of enhanced odorant sensitivity (hyperosmia), remains largely unknown. Olfactory receptor (OR) segregating...Full Text Available
The purpose of this study was to investigate whether genetically determined properties of muscle metabolism contribute to the exceptional physical endurance of world-class distance runners. ATP, phosphocreatine,...Full Text Available
Rumen-cannulated cows (n = 4) were fed successively silage made from either conventional or genetically modified (GM) maize. Results revealed no effects of GM maize on the dynamics...Full Text Available
Nuclear transfer (NT) is a procedure by which genetically identical individuals can be created. The technology of pig somatic NT, including in vitro maturation of oocytes, isolation and treatment of...Full Text Available
The zebrafish is emerging as a prominent model system for studying the genetics of human development and disease. Genetic alterations that underlie each mutant model can exist in the form of...Full Text Available
This study examined the genetic basis of hypertension and renal disease in Dahl SS/Mcwi (Dahl Salt-Sensitive) rats using a complete chromosome substitution panel of consomic rats in which each of the...Full Text Available
HIV infections show great variation in the rate of progression to disease, and the role of viral genetic factors in this variation had remained poorly characterized until recently. Now a series of four...Full Text Available
Schizophrenia and bipolar disorder are leading causes of morbidity across all populations, with heritability estimates of ∼80% indicating a substantial genetic component. Population genetics...Full Text Available
Abstract Toll-like receptor 2 (TLR2) is an immune sensor for gram-positive bacterial cell wall components. Single-nucleotide polymorphisms (SNPs) in the TLR2 gene that impair its function may, therefore, influence the risk and outcomes of gram-positive bacterial infections. In a cohort of 694 liver transplant recipients, we assessed the TLR2 SNP that is translated into an amino acid substitution of arginine for glutamine at position 753 (R753Q), and we found that its presence was associated with the clinical characteristics and outcomes of gram-positive bacterial infections. The proportions of patients with the TLR2 R753Q SNP did not significantly differ between those with gram-positive bacterial infections and those without gram-positive bacterial infections (9.6% versus 9.6%, P = 0.999)....
Abstract Background: G proteins are ubiquitously expressed signal transduction proteins playing a key role in multiple signal transduction pathways. The Gas subunit has been considered as an apoptosis factor. In this study the role of GNAS T393C genotypes of the GNAS gene encoding Gas was analyzed for its influence on the development and progression of prostate cancer. Methods: Genotyping of the GNAS T393C polymorphism in 196 prostate cancer patients and 200 healthy controls was performed by DNA extraction followed by PCR and restriction analysis. Results: We observed no evidence of effects related to GNAS T393C genotype as demonstrated by a comparison of the genotype distribution in prostate cancer patients and healthy controls, the genotype distribution dependent on grade of the primary ...
Background: A possible association between the polymorphic CAG repeat in the DNA polymerase gamma (POLG) gene and the risk of testicular germ-cell tumours (TGCT) was investigated in this study. The hypothesis was prompted by an earlier preliminary study proposing an association of the absence of the common 10-CAG-long POLG allele with testicular cancer as well as previously reported in some European populations' association with male subfertility, which is a condition carrying an increased risk of TGCT. Patients and methods: The number of CAG repeats in both POLG alleles was established in 243 patients with TGCT and in 869 controls by the analysis of the genomic DNA fragment. Results: A significantly higher proportion of men homozygous allele of other than the common 10 CAG repeats was fou...
Based on a literature study an actual summary of the risk-utility problems in X-ray diagnosis is outlined due to the Recommendations of the International Commission for Radiation Protection (ICRP publication 26/1977). Papers demonstrating quantitative assessment of the somatic and genetical risk in X-ray examination are preferably cited and evaluated. It is concluded that the somatic and genetical risk is low in diagnostic ratiology. However, it must not be neglected and has always to be compared to the utility of an examination as well as to other risks of the examination. (author).
Exponentially growing biological and bioinformatics data sets present a challenge and an opportunity for researchers to contribute to the understanding of the genetic basis of phenotypes. Due to breakthroughs in microarray technology, it is possible to simultaneously monitor the expressions of thousands of genes, and it is imperative that researchers have access to the clinical data to understand the genetics and proteomics of the diseased tissue. This technology could be a landmark in personalized medicine, which will provide storage for clinical and genetic data in electronic health records (EHRs). In this paper, we explore the computational and ethical challenges that emanate from the intersection of bioinformatics and healthcare informatics research. We describe the current situation of the EHR and its capabilities to store clinical and genetic data and then discuss the Genetic ...
Multiple memory systems are involved in parallel processing of spatial information during navigation. A series of studies have distinguished between hippocampus-dependent ‘spatial’ navigation,...Full Text Available
Protein tyrosine phosphatase nonreceptor type 22 (PTPN22) gene polymorphisms are associated with many autoimmune diseases. The major risk allele encodes an R620W amino acid change that...Full Text Available
A new study on the pressure-induced phase transitions of TiO_2 has been performed using all-electron density-functional theory based computations with the projector augmented wave and the linearized augmented plane wave methods considering five experimentally observed structures. The static results yield a picture that is consistent with experiments, i.e., phase transitions with pressure are predicted as rutile #-># monoclinic baddeleyite (MI) #-># orthorhombic I (OI) #-># cotunnite (OII) on compression, and OII #-># OI #-># MI #-># columbite (TiO_2II) on decompression. The elasticities of these five polymorphs are compared. Except for the baddeleyite structure, which is considerably softer than the other polymorphs, all phases show a zero pressure bulk modulus in the range of 200-240 GPa, consistent with compression results and the single crystal elastic constant; on the basis of these results we can say that the cotunnite ...
We have previously described an allelic polymorphism in the V beta 6.1 T-cell receptor gene. The V beta 6.1B allele is associated with disease in a subgroup of patients with juvenile rheumatoid arthritis....Full Text Available
Low-level lead exposure during early childhood has long been associated with altered neurocognitive development and diminished cognitive functions. Over nine thousand U.S. industrial facilities...Full Text Available
BackgroundThe beta-defensin gene cluster (DEFB) at chromosome 8p23.1 is one of the most copy number (CN) variable regions of the human genome. Whereas individual DEFB CNs have been...Full Text Available
We conducted a genome-wide association study of gastric cancer (GC) and esophageal squamous cell carcinoma (ESCC) in ethnic Chinese subjects in which we genotyped 551,152 single nucleotide polymorphisms...Full Text Available
Peculiarities of metastable #beta#-solid solution decmposition in titanium alloy VT30 in the process of isothermal ageing in the range 500-650 deg C are investigated. Using the methods of transmittion electron microscopy, X-ray diffraction analysis, etc., it is shown that in the case of alloy quenching from the temperature below the point of complete polymorphous transformation (T_t_._t_.), as well as after warm rolling the course of subsequent decomposition of solid solution can be consierably complicated.
Background: Hypertriglyceridemia is a risk factor for cardiovascular disease. Variation in the apolipoprotein A5 (APOA5) and glucokinase regulatory protein (GCKR)...Full Text Available
TRF-CUT, an ARB-implemented tool, was developed to predict in silico the terminal restriction fragments of aligned small-subunit rRNA gene or functional gene sequences. Application of this new tool...Full Text Available
4.5S RNA is a group of RNAs 90 to 94 nucleotides long (length polymorphism due to a varying number of UMP residues at the 3' end) that form hydrogen bonds with poly(A)-terminated RNAs isolated from...Full Text Available
While many attacks are distributed across botnets, investigators and network operators have recently targeted malicious networks through high profile autonomous system (AS) de-peerings and network shut-downs. In this paper, we explore whether some ASes indeed are safe havens for malicious activity. We look for ISPs and ASes that exhibit disproportionately high malicious behavior using 12 popular blacklists. We find that some ASes have over 80% of their routable IP address space blacklisted and others account for large fractions of blacklisted IPs. Overall, we conclude that examining malicious activity at the AS granularity can unearth networks with lax security or those that harbor cybercrime.
Implementation of Title 10 Code of Federal Regulations Part 830, Subpart B Nuclear Safety Management (1) was accomplished at the Waste Isolation Pilot Plant (WIPP) in a timely and efficient manner. The primary reason the transition went smoothly was that the existing safety analysis was relatively new, initially developed in 1995, and written in accordance with the safe harbor document DOE-STD-3009 (2). The WIPP Safety Analysis Report (SAR) (3) is kept up-to-date with the unreviewed safety question (USQ) process and thorough oversight and input provided by DOE-Carlsbad Field Office (CBFO) documented in the annual safety evaluation report (SER) process.
Odontocetes are believed to receive sounds primarily through the pan bone region of the lower jaw although much variation in jaw morphology exists among species. In order to further examine this jaw hearing hypothesis we tested the head receiving sensitivity and directional hearing of a beluga whale, Delphinapterus leucas. Hearing thresholds were measured using auditory evoked potentials (AEPs). The subject proved to have highly directional hearing for far-field click stimuli similar to that of bottlenose dolphins and more directional than the harbor porpoise. For near-field jawphone stimulation, the beluga's lowest thresholds were found when click stimuli were presented at the rostrum tip (76?dB re: 1??Pa) although thresholds from the pan bone region stimulation were only 2?3?dB higher. S...
Prepulse inhibition (PPI) is a measure of sensorimotor gating, a pre-attentional inhibitory brain mechanism that filters extraneous stimuli. Prepulse inhibition is correlated with measures of cognition and executive functioning, and is considered an endophenotype of schizophrenia and other psychiatric illnesses in which patients show PPI impairments. As a first step toward identifying genes that regulate PPI, we performed a quantitative trait locus (QTL) screen of PPI phenotypes in a panel of mouse chromosome substitution strains (CSSs). We identified five CSSs with altered PPI compared with the host C57BL/6J strain: CSS-4 exhibited decreased PPI, whereas CSS-10, -11, -16 and -Y exhibited higher PPI compared with C57BL/6J. These data indicate that A/J chromosomes 4, 10, 11, 16 and Y harbor...
Several lines of evidence are presented that indicate that the level of tetracycline resistance of Esherichia coli strains harboring plasmid pBR322 varies according to whether the SOS system of the host bacteria has been induced. These include use of strains in which the SOS system is expressed constitutively (lexA def.), is thermoinducible (recA441) or noninducible (lexA ind-), or is highly repressed (multiple copies of lexA+). Similar induction was observed with the product of another plasmid gene, beta-lactamase. The amounts of extractable plasmid DNA were also increased by SOS induction, and we propose that the SOS-induced increases in levels of tetracycline resistance and beta-lactamase activity are due to an increased plasmid copy number.
Abstract Alcoa World Alumina Australia mines bauxite under lease agreements with the Government of Western Australia. The leases lie in the Darling Range to the east of Perth, the capital and major population center. In addition to bauxite and other mineral ores, the Darling Range is a major potable water source and harbors a species-rich forest dominated by Jarrah (Eucalyptus marginata), a significant commercial timber. Conservation and recreation are important land uses in the region. Social and political pressures have led to stringent governmental requirements for restoration. In addition, a summer drought period, a soil deficient in most nutrients, water management challenges, an introduced disease, caused by Phytophthora cinnamomi Rands, and a post-mining ecosystem that must be condu...
This study assessed coastal erosion vulnerability along a 90-km sector, which included both erosional and accretionary beaches, and different levels of human occupation. Two aerial photogrammetric flights were used to reconstruct coastal evolution between 1977 and 1999. During this period, extensive accretion was recorded updrift of human structures at harbors and ports, e.g., Scoglitti (105.6?m), Donnalucata (52.8?m), and Pozzallo (94.6?m). Conversely, erosion was recorded in downdrift areas, with maximum values at Modica Stream mouth (63.8?m) and Point Castellazzo (35.2?m). Assessments were subsequently divided into four categories ranging from ?high erosion?? to ?accretion.?? Several sources were examined to assess human activities and land use. The latter was mapped and divided into fo...
Abstract Recent reports showed many patients with chronic fatigue syndrome (CFS) harbor a retrovirus, xenotropic murine leukemia-related virus (XMRV), in blood; other studies could not replicate this finding. A useful next step would be to examine cerebrospinal fluid, because in some patients CFS is thought to be a brain disorder. Finding a microbe in the central nervous system would have greater significance than in blood because of the integrity of the blood-brain barrier. We examined cerebrospinal fluid from 43 CFS patients using polymerase chain reaction techniques, but did not find XMRV or multiple other common viruses, suggesting that exploration of other causes or pathogenetic mechanisms is warranted. Ann Neurol 2011;
Sufficient genetic diversity exists in Indian tree species to give large genetic gains. Improvement potential, using wild gene resources for selection and breeding is vast as there are over 244 genera and 400 forest tree species in India. Of these over 30 species and 22 genera are of outstanding forestry value. Selective genetic-variation can be lifted from wild populations, multiplied vegetatively or by seed, and planted with controlled germplasm sources. Among the Indian species no less than 74 reproduce by cutting, 11 by layers, 9 by grafting and buding and 104 by root suckers. More than 161 species coppice vigorously. Afforestation techniques of over 170 species have been worked out. Tree genetic approach of survey of natural variability, quick evaluation, selection, conservation multiplication and planting superior variability directly in the field can give immediate genetic ...
The Prince William Sound Regional Citizen's Advisory Council and the Cook Inlet Regional Citizen's Advisory Council are independent, non profit organizations formed in 1989 following the Exxon Valdez oil spill to promote the concept of community-based oil spill response (COSR) in their respective regions. COSR involves local citizens in responding to oil spilled in waters they rely upon for income, recreation and subsistence. The 2 advisory councils recently held a Community Oil Spill Response Forum to review the status of existing COSR teams and to share information about past and future COSR-related efforts. The meeting served as an information exchange process about regulatory programs, COSR variations in communities and harbors, training, and personnel issues. Key groups attending the forum were harbor masters, Alaska Department of Environmental Conservation, United States Coast Guard, existing COSR teams, oil response ...
Analysis of data on seedling traits from 20 diverse genotypes revealed significant differences fro most of the seedling traits. Significant estimates of broad-sense heritability were observed for VI, ERI, FRTW, DRTW and R/S ratio. Genetic advance was maximum for VI,ERI and E%. The correlation of VI with ERI and R/S ratio was negative and significant, whereas it was positive and significant with E%, FSHW and DSHW. Characterization of the sorghum genotypes according to Anderson's Metro glyph Statistics revealed five different groups for seedling trails. (authors)
This book presents in simple terms the basis of molecular genetics and how it is used to obtain an understanding of the human genome. The author's central focus is the transistion of genetics from statistics to experimental manipulations, and he offers analogies that help readers visualize the genome, thereby avoiding conventional scientific presentations. He illustrates how genetics is used in scientific laboratories, in courtrooms, and in hospitals. Little is presented about the complex social and ethical issues raised by the Human Genome project.
BackgroundDuplications of stretches of the genome are an important source of individual genetic variation, but their unrecognized presence in laboratory organisms would be a confounding...Full Text Available
The application of multi-objective genetic algorithms for green building design in two phases were presented in order to better help designers in the decision-making process. The purpose is to minimize two conflicting criteria: the life-cycle cost and the life-cycle environmental impact. Environmental impact criteria examined include energy and non-energy natural resources, global warming, and acidification. Variables focus on building envelope-related parameters. The application of multi-objective genetic algorithms is divided into two phases. The first phase intends to help designers in understanding the trade-off relationship between the two conflicting criteria. The second phase intends to refine the performance region that is of the designer's interest. The results after the two-phase application of the multi objective genetic algorithm were then presented. 13 refs., 4 tabs., 3 figs.
German translation of the publication 'The evaluation of risks from radiation' published in 1965 by the International Commission on Radiological Protection. In a survey, genetic and somatic risks from radiation are presented and explained. (HP).
We determined the underlying aetiology of blindness for the registered blind population of the Province of Newfoundland and Labrador. In both 1981 and 1984 single-gene disorders accounted for 30% of...Full Text Available
Myriad genetic and epigenetic alterations are required to drive normal cells toward malignant transformation. These somatic events commandeer many signaling pathways that cooperate to endow aspiring...Full Text Available
Spatial epidemiology is the description and analysis of geographic variations in disease with respect to demographic, environmental, behavioral, socioeconomic, genetic, and infectious risk factors....Full Text Available
To evaluate the contribution of genetic influences on the individual variation in plateau serum salicylate levels, salicylate metabolism was studied in seven pairs of identical and six pairs of fraternal...Full Text Available
Knowledge about retinal photoreceptor signal transduction and the visual cycle required for normal eyesight has expanded exponentially over the past decade. Substantial progress in human genetics...Full Text Available
The success of monoclonal antibodies in clinical practice is dependent on good design. Finding a suitable target is the most important part as other properties of the antibody can be altered by genetic...Full Text Available
the environment, with the 2006 release of a GM pink bollworm moth (a pest of cotton), ...Use of Genetically Engineered Fruit Fly and Pink Bollworm in APHIS Plant Pest Control Programs 6 Gould,
Comparative Molecular Genetic Monitoring of Myxoviruses Circulating in Populations of Seals Phoca Caspia and Phoca Sibirica in Northern Caspian Region and Lake Baikal
BackgroundMolecular genetic studies of Bombyx mori have led to profound advances in our understanding of the regulation of development. Bombyx mori brain,...Full Text Available
Microreserves may be useful in protecting native arthropod diversity in urbanized landscapes. However, species that do not disperse through the urban matrix may eventually be lost from these fragments. Population extinctions may be precipitated by an increase in genetic differentiation among fragments and loss of genetic diversity within fragments, and these effects should become stronger with time. We analyzed population genetic structure in the dispersal limited Jerusalem cricket Stenopelmatus n. sp. ?santa monica?? in the Santa Monica Mountains and Simi Hills north of Los Angeles, California (CA), to determine the impacts of fragmentation over the past 70 years. MtDNA divergence was greater among urban fragments than within contiguous habitat and was positively correlated with fragment ...
PurposeClinical trials have commenced to evaluate the feasibility of targeting malignant gliomas with genetically engineered cytolytic T-cells (CTLs) delivered directly...Full Text Available
In animal models, single-gene mutations in genes involved in insulin/IGF and target of rapamycin signalling pathways extend lifespan to a considerable extent. The genetic, genomic and epigenetic influences...Full Text Available
RationaleCollaterals are arteriole-to-arteriole anastomoses that connect adjacent arterial trees. They lessen ischemic tissue injury by serving as endogenous bypass...Full Text Available
The expression of motor activity levels in response to novel situations is under complex genetic and environmental control. Several genetic loci have been implicated in the regulation of this behavioral phenotype, but their relationship to epigenetic and epistatic interactions is relatively unknown. Here, we report on a quantitative trait locus (QTL) on mouse chromosome 1 for novelty-induced motor activity in the open field, using chromosome substitution strains derived from a high active host strain (C57BL/6J) and a low active donor strain (A/J). The QTL for open field (horizontal distance moved) peaked at the location of Kcnj9, however, QTL detection was initially masked by an interplay of both grandparent genetic origin and genetic co-factors influencing behavior on chromosome 1. Our fi...
BackgroundMutations that disrupt the conversion of prelamin A to mature lamin A cause the rare genetic disorder Hutchinson-Gilford progeria syndrome and a group of laminopathies....Full Text Available
Behavioral responses to wind are thought to play a critical role in controlling the dispersal and population genetics of wild Drosophila species1,Full Text Available
diet and genetic obesity metabolic defects and inflammation. To determine the role of adipocyte death in promoting adipose tissue inflammation and insulin resistance in animal...
Does the cultural background influence the success with which genetically unrelated individuals cooperate in social dilemma situations? In this paper, we provide an answer by analysing the data of Full Text Available
Executive summary 1. Few studies have to date explained consumer attitudes and purchase decisions with regard to genetically engineered food products. However, the increased marketing of genetically engineered food products and the considerable concern that consumers seem to express with regard to the technology call for the development of a theoretical basis for research into these issues. 2. The aim of the paper is to present three models which we have developed to explain consumer attitudes, buying behaviour and attitude change with regard to genetically engineered food products. All three models build on established consumer behaviour theory and on existing and comparable research in the field. 3. Consumer attitudes toward genetic engineering in food products are explained in an attitude model that builds on Fishbein's multiattribute attitude model. The model deviates from Fishbein's model in a ...
The study of genetic variability within natural populations of pathogens may provide insight into their evolution and pathogenesis. We used a Mycobacterium tuberculosis high-density...Full Text Available
Aging can be defined as a progressive decline in physiological efficiency regulated by an extremely complex multifactorial process. The genetic makeup of an individual appears to dictate this rate...Full Text Available
What genes are related to AEC syndrome? AEC syndrome is caused by mutations in the TP63 gene. This gene provides instructions for making a protein known as p63, which plays an...
The relationship between single nucleotide polymorphism (SNP) of interleukin-17 (IL-17A), transforming growth factor @b (TGF-@b), as well as its receptor (TGFR-@b2) and susceptibility to intracerebral hemorrhage in patients with brain arteriovenous malformation (BAVM) was investigated in the present study. A total of 53 patients with BAVM and 120 healthy controls were recruited, all of whom were Han Chinese from South China. There were no statistically significant differences in the IL-17A-197 guanine/adenine (G/A) or TGF-@b1-509 cytosine/thymine (C/T) genotypes or gene frequencies between BAVM patients and controls (p>0.05), but the gene frequency of the TGFR-@b2-875 A/G genotype in patients with BAVM was significantly higher (p<0.05). Furthermore, the frequencies of the G allele of IL-17...
(Pb_1_-_x La_x) (Zr_0_._6_5 Ti_0_._3_5) ceramics, with x = 0.09 (PLZT 9/65/35) were prepared using lead monoxide (Pb O) with different amount of litharge (tetragonal) and massicot (orthorhombic) phases. Results, based on x-ray diffraction patterns, remanent polarization and dielectric measurements, show that the Pb O polymorphic phase does not change the final structure of the PLZT but causes changes on the remanent polarization and dielectric permittivity temperature dependence. (author). 11 refs, 2 figs, 2 tabs.
The emergence of bacterial antibiotic resistance is a growing problem, yet the variables that influence the rate of emergence of resistance are not well understood. In a microfluidic device designed to mimic naturally occurring bacterial niches, resistance of Escherichia coli to the antibiotic ciprofloxacin developed within 10 hours. Resistance emerged with as few as 100 bacteria in the initial inoculation. Whole-genome sequencing of the resistant organisms revealed that four functional single-nucleotide polymorphisms attained fixation. Knowledge about the rapid emergence of antibiotic resistance in the heterogeneous conditions within the mammalian body may be helpful in understanding the emergence of drug resistance during cancer chemotherapy. PMID:21940899
A graphic approach, terms a Genetic Activity Profile (GAP), was developed to display a matrix of data on the genetic and related effects of selected chemical agents. The profiles provide a visual overview of the quantitative (doses) and qualitative (test results) data for each chemical. Either the lowest effective dose or highest ineffective dose is recorded for each agent and bioassay. Up to 200 different test systems are represented across the GAP. Bioassay systems are organized according to the phylogeny of the test organisms and the end points of genetic activity. The methodology for producing and evaluating genetic activity profile was developed in collaboration with the International Agency for Research on Cancer (IARC). Data on individual chemicals were compiles by IARC and by the US Environmental Protection Agency (EPA). Data are available on 343 compounds selected from volumes 1-53 of the IARC ...
In this paper, a new design methodology for determining the size, location, type and number of capacitors to be placed on a radial distribution system is presented. The objective is to minimize the peak power losses and the energy losses in the distribution system considering the capacitor cost. A sensitivity analysis based method is used to select the candidate locations for the capacitors. A new optimization method using a Genetic Algorithm is proposed to determine the optimal selection of capacitors. Test results have been presented along with the discussion of the algorithm.
A 13.1-kb DNA fragment carrying Pseudomonas denitrificans cob genes has been sequenced. The nucleotide sequence and genetic analysis revealed that this fragment contained five different cob genes named...Full Text Available
We have used triparental matings to demonstrate transfer (mobilization) of the nonconjugative genetically engineered plasmid pHSV106, which contains the thymidine kinase gene of herpes simplex virus...Full Text Available
These three volumes cover liposome technology in pharmacology and medicine. Contributors emphasize methodology used in their own laboratories, and include a brief introduction, coverage of relevant literature, applications and critical evaluations for the methods they describe. Volume II presents procedures for the entrapment of a number of drugs, including genetic material, into selected types of liposomes.
Newly hatched chicks were dosed orally with a Salmonella typhimurium wild-type strain, an S. enteritidis wild-type strain, and a genetically defined S. enteritidis aroA vaccine candidate, strain CVL30....Full Text Available
It is the purpose of this review to draw together the recent research adding to our understanding of the molecular nature of Clostridia. The thrust here is to emphasize those research advances in biochemistry and genetics that bear upon future development of fermentation processes employing the Clostridia. 222 refs., 10 figs., 5 tabs.
The possible genetic (dominant lethal mutations (DLM) and cytogenetic changes in the regenerating liver) and somatic (hematopoietic stem cell changes, growth and nonspecific life time shortening) effects in mice maintained on tritiated water (HTO) over two generations was investigated. Results to date are summarized. (ACR)
Constructive and combinatorial relationships between order-isomorphisms and order-equivalence classes within the generalized genetic code are presented, not only for the biologically relevant groups of order 4, but also for finite groups of arbitrary order. The main result is the derivation of the number (and types) or order-equivalence classes for a group of order n. Finally, an extension of this work to all biologically admissible alternative codes is discussed.
The risks from radiation exposure during radiological diagnosis has usually been estimated in relation to genetic changes. Relevant information has been expressed as the genetically significant dose. In this paper we attempt to produce an analogous measure for evaluating the somatic risk in the form of a somatically significant dose index for radiological and CT examinations. It is shown that, for both types of examination, the two risk factors may be entirely different.
The risks from radiation exposure during radiological diagnosis has usually been estimated in relation to genetic changes. Relevant information has been expressed as the genetically significant dose. In this paper we attempt to produce an analogous measure for evaluating the somatic risk in the form of a somatically significant dose index for radiological and CT examinations. It is shown that, for both types of examination, the two risk factors may be entirely different. (orig.).
Late somatic and genetic radiation effects are imperfectly understood, particularly in the human species. However the available information is sufficient to draw reasonably precise risk estimates in man for many types of damage by means of scientifically justifiable procedures and with the necessary caution. This overall absolute risk of major somatic and genetic damage may be set at around 10"-"4/rad of chronic whole-body doses.
Transcriptional silencing in Saccharomyces cerevisiae occurs at several genetic loci, including the ribosomal DNA (rDNA). Silencing at telomeres (telomere position effect [TPE])...Full Text Available
Crosses between field isolates of Magnaporthe grisea (anamorph, Pyricularia oryzae Cav. and Pyricularia grisea) have led to the development of fertile laboratory strains that infect goosegrass and/or weeping lovegrass. These strains may now be utilized in a rigorous genetic analysis of host species specificity and general pathogenicity. Attempts to improve the fertility of rice pathogens for the goal of undertaking a genetic analysis of host cultivar specificity have so far been unsuccessful. Crosses between M. grisea strains that infect rice, goosegrass or weeping lovegrass demonstrate that host species specificity differences between field isolates of this fungus in some cases have a complete genetic basis, and in other cases have a simple genetic basis. Crosses between a field isolate of the pathogen that infects weeping lovegrass and a field isolate that infects goosegrass have resulted in the ...
Specific {sup 32}P-labeled DNA probes were prepared and used to evaluate the distribution of tetracycline resistance determinants carried by gram-negative enteric bacteria isolated from pigs in 3 swine herds with different histories of antibiotic exposure. Plasmid DNA, ranging in size from 2.1 to 186 Kb, was observed in over 84% of 114 isolates studied. Two of 78 tetracycline resistant strains did not harbor plasmids. The DNA probes were isolated from plasmids pSL18, pRT29/Tn10, pBR322 and pSL106, respectively, and they represented class A, B, C and D tetracycline resistance determinants. Hybridization conditions using 0.5X SSPE at 65{degrees}C minimize cross-hybridization between the different class of tetracycline resistance genes. Cross-hybridization between class A and class C determinants could be distinguished by simultaneous comparison of the intensity of their hybridization signals. Plasmids from over 44% of the tetracycline resistant isolates did not ...
In order to achieve efficient d-lactic acid fermentation from a mixture of xylose and glucose, the xylose-assimilating xylAB operon from Lactobacillus pentosus (PXylAB) was introduced into an l-lactate dehydrogenase gene (ldhL1)-deficient Lactobacillus plantarum (?ldhL1-xpk1::tkt-?xpk2) strain in which the phosphoketolase 1 gene (xpk1) was replaced with the transketolase gene (tkt) from Lactococcus lactis, and the phosphoketolase 2 (xpk2) gene was deleted. Two copies of xylAB introduced into the genome significantly improved the xylose fermentation ability, raising it to the same level as that of ?ldhL1-xpk1::tkt-?xpk2 harboring a xylAB operon-expressing plasmid. Using the two-copy xylAB integrated strain, successful homo-d-lactic acid production was achieved from a mixture of 25?g/l xylos...
Multiplex PCR is practically a reasonable choice for molecular marker-assisted selection in potato breeding. We had developed and were using a multiplex PCR method for selection of resistance genes to cyst nematode (H1), Potato virus X (Rx1) and late blight (R1 and R2). Since then, more reliable and tightly linked markers for H1 and R2, and a new marker for resistance to Potato virus Y (Ry chc ) were developed. In this article, all these superior markers, including a positive marker to eliminate PCR-failed samples, were incorporated into one multiplex PCR assay. Using the newly developed multiplex PCR technique, five plants potentially harboring all five resistance genes were selected from 96 hybrid plants approximately 5?h after DNA extraction, which is a third of the operation time compa...
A collaboration initiated in 1989 between Judy Lachvayder and Chris Cullis in response to an application for a Christa McCauliffe Fellowship has grown into a substantial program. A one week course in biotechnology, using the Cold Spring Harbor Vector van, was run in 1990. A similar one week summer course was run by Cullis for high school freshmen and sophomores. Both programs (teachers and students) have continued with support from the Edison Biotechnology Center (EBTC), U.S. Biochemical, the Howard Hughes Medical Institute and CWRU. A core of teachers from these courses were brought together by the EBTC and the Cleveland Regional Area of Biologists (CRABS) was formed. This group holds regular meetings and develops new classroom exercises. A group of master teachers from the participants have also held their own workshops at local and national meetings. A Science and Society Symposium was held in February 1994 and an equipment loan program for teachers has been ...
The bright star 55 Cancri is known to host five planets, including a transiting super-Earth. The interferometric study presented here yields directly determined values for 55 Cnc's stellar astrophyiscal parameters: $R=0.943 \\pm 0.010 R_{\\odot}$, $T_{\\rm EFF} = 5196 \\pm 24$ K. We use isochrone fitting to determine 55 Cnc's age to be 10.2 $\\pm$ 2.5 Gyr, implying a stellar mass of $0.905 \\pm 0.015 M_{\\odot}$. Our analysis of the location and extent of the system's habitable zone (0.67--1.32 AU) shows that planet f ($M \\sin i = 0.155 M_{Jupiter}$) spends the majority of the duration of its elliptical orbit in the circumstellar habitable zone, where, with moderate greenhouse heating, it could harbor liquid water. Finally, our direct value for 55 Cancri's stellar radius allows for a model-independent calculation of the physical diameter of the transiting super-Earth 55 Cnc e ($\\sim 2.05 \\pm 0.15 R_{\\earth}$), which, depending on the planetary mass assumed, ...
Malformations in farmed fish are a prime research topic as it has a major impact on fish welfare and on the economical value of the product. In this study, the genetic component of spine deformities was estimated in European sea bass, a major species of Mediterranean aquaculture, with the use of a posteriori reconstruction of pedigree with microsatellites. Our population exhibited a very high malformation rate (81%), probably due to intense swimming of fish during pre-growing. The heritability of global spine deformities was evaluated to be 0.21?0.04 on the underlying scale (0.33?0.06 for lordosis, 0.13?0.04 for scoliosis). Deformities scored by an internal or external examination turned out to be genetically the same trait (genetic correlations>0.9), although phenotypic correlations were ...
In virtually all forms of life on earth, proteins in each cell are made according to a genetic blueprint, in the form of DNA. The translation of copies of this genetic blueprint (in the form of messenger RNA) into polypeptides is performed on the ribosome, a highly complex molecular machine composed of RNAs and proteins. To this end, special adaptor molecules called transfer RNAs are lined up by the ribosome in the sequence dictated by the genetic code, such that the amino acids carried by these molecules can be linked into a polypeptide. Several cofactors are involved in these processes, some of which require energy freed up by GTP hydrolysis. Although the ribosome was discovered more than 50 years ago, its structure has only been solved recently by X-ray crystallography. Another technique, cryo-electron microscopy, is starting to contribute toward our understanding of the ribosome's function, by portraying its ...
On November fourth and fifth 2010 a group of more than 100 international investigators gathered in Atlanta for the second Osteoarthritis (OA) Biomarkers Global Initiative workshop titled ''Genetics and Genomics: New Targets in OA''. The first workshop took place in April 2009 and focused on in vitro (soluble) biomarkers whilst the third and final workshop will take place in 2012 and will focus on imaging biomarkers. The OA Research Society International (OARSI) has organized the workshops. In addition to OARSI, the National Institute of Arthritis, Musculoskeletal and Skin Diseases, the Arthritis Foundation, Amgen, Genzyme, the American Orthopaedic Society for Sports Medicine and Pfizer sponsored the second meeting. It was clear from this meeting that experiments in the genetics, epigenetic...
Abstract Aim- To explore whether the subspecific genetic entities of Acacia saligna occupy different bioclimatic niches in their native and introduced ranges and whether these niches are predictable using species distribution models (SDMs). Location- Australia, South Africa and the Mediterranean Basin. Methods- Species distribution models were developed in MAXENT using six climatic variables to calculate the climatic suitability of the ranges of A.saligna. We assessed (1) the subspecific niche differences identified by SDMs using measures of niche overlap and model performance; (2) the ability of SDMs to predict the most likely subspecific genetic entities present in South Africa based on comparisons to genetic data; and (3) the ability of SDMs to predict the most likely subspecific geneti...
Monocelis lineata is a complex of cryptic species (three in the Mediterranean and one in the Atlantic) widespread in midlittoral habitats. Throughout the range, populations with or without an ocular pigmented shield are found. We investigated the genetic structure of the North-East Atlantic populations with the aim of shedding light on their phylogeography and reconstructing possible patterns of recolonization after the Wrmian glaciation. Fourteen samples were investigated using cytochrome c oxidase subunit I (COI) and 13 by inter-simple sequence repeats (ISSRs). COI did not exhibit a clear pattern of decreased genetic diversity along a latitudinal gradient. Populations from Ferrol (Spain), Doolin (Ireland), and Helsingr (Denmark) showed a higher genetic variability, whereas a reduction in...
The Seventh Meeting of the Conference of the Parties (2004) of the Convention on Biological Diversity established a mandate for the negotiation of an international regime on Access to Genetic Resources and Benefit Sharing arising from their utilization. Negotiations have been proceeding and have entered the final phase. Seven working group meetings have been held to date and there is expectation that an instrument will emerge by the final deadline - the Tenth Meeting of the Conference of the Parties in Nagoya, Japan in October 2010. A key component singled out for inclusion in the international regime relates to the recognition and protection of the rights of indigenous and local communities (ILCs) over their traditional knowledge (TK) associated with genetic resources. The Ninth Meeting o...
Genetic mapping is approached using the techniques of high resolution fluorescence in situ hybridization (FISH). This technology and the results of its application are designed to rapidly generate whole genome as tool box of expressed sequence to speed the identification of human disease genes. The results of this study are intended to dovetail with and to link the results of existing technologies for creating backbone YAC and genetic maps. In the first eight months, this approach generated 60--80% of the expressed sequence map, the remainder expected to be derived through more long-term, labor-intensive, regional chromosomal gene searches or sequencing. The laboratory has made significant progress in the set-up phase, in mapping fetal and adult brain and other cDNAs, in testing a model system for directly linking genetic and physical maps using FISH with small fragments, in setting up a database, and in establishing the ...
Obesity is associated with increased susceptibility to dyslipidemia, insulin resistance, and hypertension, a combination of traits that comprise the traditional definition of the metabolic syndrome. Recent evidence suggests that obesity is also associated with the development of nonalcoholic fatty liver disease (NAFLD). Despite the high prevalence of obesity and its related conditions, their etiologies and pathophysiology remains unknown. Both genetic and environmental factors contribute to the development of obesity and NAFLD. Previous genetic analysis of high-fat, diet-induced obesity in C57BL/6J (B6) and A/J male mice using a panel of B6-ChrA/J/NaJ chromosome substitution strains (CSSs) demonstrated that 17 CSSs conferred resistance to high-fat, diet-induced obesity. One of these CSS st...
Summary 1. Plants express multiple defensive traits, but little is known about the genetic stability and phenotypic plasticity of these traits in nature. To investigate sources of variation and their potential ecological consequences for herbivores, we combined field observations of cyanogenic lima bean with laboratory experiments. 2. Field studies in South Mexico revealed a distinct variability of cyanogenic traits within and among wild lima bean populations. To differentiate among genetic variation and the impact of ambient conditions on plant phenotypes, we used seed grown plants as well as clones propagated from high (HC) and low cyanogenic (LC) wild type plants. 3. In growth chamber experiments, we cultivated plants under three intensities each of drought and salt stress, nutrient sup...
Plant secondary chemistry is determined by both genetic and environmental factors, and while large intraspecific variation in secondary chemistry has been reported frequently, the levels of genetic variation of many secondary metabolites in forest trees in the context of potential resistance against pests have been rarely investigated. We examined the effect of tree genotype and environment/site on the variation in defensive secondary chemistry of lodgepole pine, Pinus contorta var. latifolia, against the fungus, Grosmannia clavigera (formerly known as Ophiostoma clavigerum), associated with the mountain pine beetle, Dendroctonus ponderosae. Terpenoids were analyzed in phloem samples from 887, 20-yr-old trees originating from 45 half-sibling families planted at two sites. Samples were coll...
Three in vivo assays were used to measure the immunocompetence of chickens in two generations of a selection experiment. The obtained data were used to estimate the variance components for sire and dam for antibody production to Pasteurella multocida and Mycoplasma gallisepticum vaccines, for T-cell-mediated immunity evaluated by a phytohemagglutinin wing web assay, and for clearance of foreign particles from the circulatory system. Heritabilities of and genetic correlations among these immunological traits were calculated from the sire variance components. Heritability estimates of the immunological traits based on the sire component of variance ranged from .06 to .53, and genetic correlations among immunological traits were generally negative. PMID:1956847
Abstract Previous research has established the comorbidity of adult Attention-Deficit Hyperactivity Disorder (ADHD) with different personality disorders including Borderline Personality Disorder (BPD). The association between adult ADHD and BPD has primarily been investigated at the phenotypic level and not yet at the genetic level. The present study investigates the genetic and environmental contributions to the association between borderline personality traits (BPT) and ADHD symptoms in a sample of 7,233 twins and siblings (aged 18-90 years) registered with the Netherlands Twin Register and the East Flanders Prospective Twin Survey (EFPTS) . Participants completed the Conners' Adult ADHD Rating Scales (CAARS-S:SV) and the Personality Assessment Inventory-Borderline Features Scale (PAI-BO...
The objective of the present work is to study the chemical variation in Calophyllum inophyllum growing along the Western Ghats of India. Contents of dipyranocoumarins (inophyllums) in C.?inophyllum were determined to assess whether they could be used as a taxonomic marker for C.?inophyllum. This study also aims to establish inter simple sequence repeat (ISSR) markers that can be used to study genetic variation within the species and explore correlation between ISSR and chemical markers. The contents of dipyranocoumarins were estimated in seeds collected from 20 locations. Leaves from plants at the same 20 locations were assayed for ISSR variation. A dendrogram based on Nei?s genetic distance as well as principal component analysis based on dipyranocoumarins and ISSR variation clustered pla...
Abstract Alcohol drinking is highly prevalent in many cultures and contributes to the global burden of disease. In fact, it was shown that alcohol constitutes 3.2% of all worldwide deaths in the year 2006 and is linked to more than 60 diseases, including cancers, cardiovascular diseases, liver cirrhosis, neuropsychiatric disorders, injuries and foetal alcohol syndrome. Alcoholism, which has been proven to have a high genetic load, is one potentially fatal consequence of chronic heavy alcohol consumption, and may be regarded as one of the most prevalent neuropsychiatric diseases afflicting our society today. The aim of the integrated genome research network -Genetics of Alcohol Addiction--which is a German inter-/trans-disciplinary life science consortium consisting of molecular biologists,...
BackgroundA common approach to understanding the genetic basis of complex traits is through identification of associated quantitative trait loci (QTL). Fine mapping QTLs requires...Full Text Available
Successfully using artificial insemination (AI) is defined as getting cows pregnant when the farmer wants them in-calf and making the best use of appropriate genetic potential. Over the past...Full Text Available
Genetic studies of nicotine addiction in mice have utilized the oral self-administration model. However, it is unclear if strain differences in nicotine consumption are influenced by variation in bitter...Full Text Available
A common property of aging in all animals is that chronologically and genetically identical individuals age at different rates. To unveil mechanisms that influence aging variability, we identified markers...Full Text Available
Recessive inactivating mutations in human matrix metalloproteinase 2 (MMP2, gelatinase A) are associated with syndromes that include abnormal facial appearance, short stature, and severe bone...Full Text Available
In addition to the well documented role of cytokines in mediating tissue-level interactions, it is now clear that matrix macromolecules fulfil a complementary regulatory function. Data highlighted in...Full Text Available
The recent introduction of several transposable elements in zebrafish opens new frontiers for genetic manipulation in this important vertebrate model. This review discusses transposable elements as...Full Text Available
Transposon-based integration systems have been widely used for genetic manipulation of invertebrate and plant model systems. In the past decade, these powerful tools have begun to be used in...Full Text Available
BackgroundWhile the gene flow in some organisms is strongly affected by physical barriers and geographical distance, other highly mobile species are able to overcome such constraints....Full Text Available
Monogenic autoinflammatory diseases encompass a distinct and growing clinical entity of multisystem inflammatory diseases with known genetic defects in the innate immune system. The diseases...Full Text Available
The world's oceans contain a complex mixture of micro-organisms that are for the most part, uncharacterized both genetically and biochemically. We report here a metagenomic study of the marine planktonic...Full Text Available
Cellular polarity is a fundamental property of every cell. Due to their extremely fast growth rate (≥1 μm/s) and their highly elongated form, filamentous fungi represent a prime example...Full Text Available
Genetic defects in the dystrophin-associated protein complex (DAPC) are responsible for a variety of pathological conditions including muscular dystrophy, cardiomyopathy, and vasospasm. Conserved DAPC...Full Text Available
Allen's Rule documents a century-old biological observation that strong positive correlations exist among latitude, ambient temperature, and limb length in mammals. Although genetic selection for thermoregulatory...Full Text Available
The mouse is the leading organism for disease research. A rich resource of genetic variation occurs naturally in inbred and special strains owing to spontaneous mutations. However, one can also obtain...Full Text Available
The development of new methods for gene addition to mammalian genomes is necessary to overcome the limitations of conventional genetic engineering strategies. Although a variety of DNA-modifying enzymes...Full Text Available
Disorders of mitochondrial fat metabolism lead to sudden death in infants and children. Although survival is possible, the underlying molecular mechanisms which enable this outcome have not yet been...Full Text Available
The technology of gene targeting through homologous recombination has been extremely useful for elucidating gene functions in mice. The application of this technology was thought impossible in the large...Full Text Available
The view of species as entities subjected to natural selection and amenable to change put forth by Charles Darwin and Alfred Wallace laid the conceptual foundation for understanding speciation. Initially...Full Text Available
SummarySoluble epoxide hydrolase (sEH) is a key enzyme in the metabolic conversion and degradation of P450 eicosanoids called epoxyeicosatrienoic acids (EETs). Genetic variations...Full Text Available
BackgroundRecent evidence suggests that some sex differences in brain and behavior might result from direct genetic effects, and not solely the result of the organizational effects...Full Text Available
How an individual’s sex and genetic background modify cardiac adaptation to increased workload is a topic of great interest. We systematically evaluated morphological and physiological...Full Text Available
Although genetically identical for autosomal Chrs (Chr), male and female preimplantation embryos could display sex-specific transcriptional regulation. To illustrate sex-specific differences at the...Full Text Available
Journal of Human Genetics. 82: 873-882. 3134. Schulz, I., Schneider, P. M., Olek, K, Rothschild, M. A., and Tsokos, M. (2006) Examination of Postmortem Animal Interference to Human...
Though central to our understanding of how roots perform their vital function of scavenging water and solutes from the soil, no direct genetic evidence currently exists to support the foundational model...Full Text Available
A positive, genetic selection against the activity of the nitrogen regulatory (NTR) system was used to isolate insertion mutations affecting nitrogen regulation in Klebsiella aerogenes. Two classes...Full Text Available
...and biological processes acting on recruitment and post-recruitment EU-Agrinet - Project sheet: Biological performance testing methodology to evaluate the durability of plywood as a quality indicator ... Project sheet: Biological performance testing methodology to evaluate the durability of plywood as a quali EU-Agrinet - Project sheet: Genetic evaluation of European ...
BackgroundThe Class II DNA transposons are mobile genetic elements that move DNA sequence from one position in the genome to another. We have previously demonstrated that the naturally...Full Text Available
BackgroundSynonymous sites are freer to vary because of redundancy in genetic code. Messenger RNA secondary structure restricts this freedom, as revealed by previous findings in...Full Text Available
Most genetic changes that promote tumorigenesis involve dysregulation of G1 cell cycle progression. A key regulatory site in G1 is a growth factor–dependent restriction point (R) where cells...Full Text Available
Reverse genetics technology so far established for measles virus (MeV) is based on the Edmonston strain, which was isolated several decades ago, has been passaged in nonlymphoid cell lines, and is no...Full Text Available
The phylogeny and taxonomy of mammalian species were originally based upon shared or derived morphological characteristics. However, genetic analyses have more recently played an increasingly important...Full Text Available
Exact anatomic knowledge about the location of the gonads and the application of corresponding measures of radiation protection are the preconditions for an efficient reduction of the danger of a possible genetic damage as a result of radiation exposition during X-ray examination of the hip joint of newborns. (VJ).
Genetic algorithms (GA) were used to develop specific copper metal-ligand force field parameters for the MM3 force field, from a combination of crystallographic structures and ab initio...Full Text Available
The past decade has seen rapid advances in the identification of associations between candidate genes and a range of common multifactorial disorders. This paper evaluates public attitudes towards the...Full Text Available
Petal senescence, one type of programmed cell death (PCD) in plants, is a genetically controlled sequence of events comprising its final developmental stage. We characterized the pollination-induced...Full Text Available
BackgroundWith the advent of increasingly efficient means to obtain genetic information, a great insurgence of data has resulted, leading to the need for methods for analyzing this...Full Text Available
Insulin resistance plays a central role in type 2 diabetes and obesity, which develop as a consequence of genetic and environmental factors. Dietary changes including high fat diet (HFD) feeding promotes...Full Text Available
The sequence in the first hypervariable segment (HVS-I) of the control region has been used as a source of evolutionary information in most phylogenetic analyses of mtDNA. Population genetic inference...Full Text Available
About 20% of adults are persistently colonized with S. aureus in the anterior nares. Host genetic factors could contribute susceptibility to this phenotype. The objective of...Full Text Available
BackgroundComplex etiology and pathogenesis of pathophysiological components of the cardio-metabolic syndrome have been demonstrated in humans and animal models.Methodology/Principal...Full Text Available
Despite the health-related benefits of exercise, many people do not engage in enough activity to realize the rewards, and little is known regarding the genetic or environmental components that account...Full Text Available
Phenylketonuria (PKU) is a common genetic disorder in humans that arises from deficient activity of phenylalanine hydroxylase (PAH), which catalyzes the conversion of phenylalanine to tyrosine....Full Text Available
Objectives:Copy number variants (CNVs) have been recognized as a source of genetic variation that contributes to disease phenotypes. Alzheimer disease (AD) has high heritability...Full Text Available
BackgroundOil palm (Elaeis guineensis Jacq.) is one of the most important oil bearing crops in the world. However, genetic improvement of oil palm through conventional...Full Text Available
Nuclear cloning is still a developing technique used to create genetically identical animals by somatic cell nuclear transfer into unfertilized eggs. Despite an intensive effort in a number...Full Text Available
The majority of diseases in the retina are caused by genetic mutations affecting the development and function of photoreceptor cells. The transcriptional networks directing these processes are regulated...Full Text Available
Various hypotheses have been proposed to explain the molecule processes of sarcomere assembly, partially due to the lack of systematic genetic studies of sarcomeric genes in an in vivo...Full Text Available
Mycobacterium tuberculosis is the etiologic agent of tuberculosis and can be accurately detected by laboratories using commercial genetic tests. Nontuberculosis mycobacteria (NTM) causing other mycobacterioses...Full Text Available
In our quest for novel genes required for the development of the embryonic peripheral nervous system (PNS), we have performed three genetic screens using MAb 22C10 as a marker of terminally differentiated...Full Text Available
PurposeRetinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by progressive loss of vision. The aim of this study was to identify the causative mutations...Full Text Available
Vulnerability to abused drugs is influenced by multiple genes unique to each drug as well as to risk genes for polydrug abuse. If several inbred mouse strains respond to different drugs similarly,...Full Text Available
Microorganisms in the environment can often adapt to use xenobiotic chemicals as novel growth and energy substrates. Specialized enzyme systems and metabolic pathways for the degradation of man-made...Full Text Available
The overall objective of this project was to use molecular genetics to develop strains of bacteria with enhanced ability to remove sulfur from coal, and to obtain data that will allow the performance and economics of a coal biodesulfurization process to be predicted. (VC)
Transposable elements (TEs) comprise a large fraction of mammalian genomes. A number of these elements are actively jumping in our genomes today. As a consequence, these insertions provide a source...Full Text Available
BackgroundIdentification of global livestock diversity hotspots and their importance in diversity maintenance is essential for making global conservation efforts. We screened 52...Full Text Available
We have exploited ``progeny testing'' to map quantitative trait loci (QTL) underlying the genetic variation of milk production in a selected dairy cattle population. A total of 1,518 sires, with progeny...Full Text Available
Obesity and metabolic syndrome result from excess calorie intake and genetic predisposition and are mechanistically linked to type II diabetes and accelerated body aging; abnormal nutrient and insulin...Full Text Available
Many lessons in autoimmunity — particularly relating to the role of immune privilege and the interplay between genetics and neuroimmunology — can be learned from the study of alopecia...Full Text Available
BackgroundGenetic interactions within hybrids influence their overall fitness. Understanding the details of these interactions can improve our understanding of speciation. One experimental...Full Text Available
Large population sizes, rapid growth and 3.8 billion years of evolution firmly establish microorganisms as a major source of the planet's biological and genetic diversity. However, up to 99% of the...Full Text Available
Exploring the possibility of enhancing the properties of baculoviruses as biological control agents of insect pests, we tested the effect of expressing an insect gene (jhe) encoding juvenile hormone...Full Text Available
As the result of genetic alterations and tumor hypoxia, many cancer cells avidly take up glucose and generate lactate through lactate dehydrogenase A (LDHA), which is encoded by a target gene of c-Myc...Full Text Available
BackgroundModern approaches to treating genetic disorders, cancers and even epidemics rely on a detailed understanding of the underlying gene signaling network. Previous work has...Full Text Available
BackgroundPeak bone mass, attained by early adulthood, is influenced by genetic and life-style factors. Early infant feeding and duration of breastfeeding in particular, associate...Full Text Available
Baker's yeast (Saccharomyces cerevisiae) has been genetically engineered to ferment the pentose sugar xylose present in lignocellulose biomass. One of the reactions controlling the...Full Text Available
Mouse models have dramatically improved our understanding of cancer development and tumor biology. However, these models have shown limited efficacy as tractable systems for unbiased genetic...Full Text Available
Sensory analysis studies are critical in the development of quality enhanced crops, and may be an important component in the public acceptance of genetically modified foods. It has recently been established...Full Text Available
Chromosomal common fragile sites (CFSs) are genetically unstable regions of the genome that are induced by conditions that impair DNA replication. In this report, we show that treatment with the DNA...Full Text Available
The cottontail rabbit papillomavirus (CRPV)/rabbit model has been used to study oncogenicity and immunogenicity of different antigens from the papillomavirus genome and has therefore served...Full Text Available
The virtual lack of well-characterized metastatic pancreatic cancer tissues for study has limited systematic studies of the metastatic process of this deadly disease. To address this important...Full Text Available
Over 200 mutations in the retina specific member of the ATP-binding cassette transporter super-family (ABCA4) have been associated with a diverse group of human retinal diseases....Full Text Available
Random forest (RF) analysis of genetic data does not require specification of the mode of inheritance, and provides measures of variable importance that incorporate interaction effects. In this paper...Full Text Available
Using a genetic screen we have identified two chromosomal genes, cusRS (ylcA ybcZ), from Escherichia coli K-12 that encode a two-component, signal...Full Text Available
The IFAP syndrome is a rare X-linked genetic disorder reported in nearly 40 patients. It is characterized by the triad of Ichthyosis Follicularis, Alopecia, and Photophobia from birth. Other features...Full Text Available
BackgroundAnimals carrying genetic mutations have provided powerful insights into the role of interstitial cells of Cajal (ICC) in motility. One classic model is...Full Text Available
Many genetic processes depend on proteins interacting with specific sequences on DNA. Despite the large excess of nonspecific DNA in the cell, proteins can locate their targets rapidly. After initial...Full Text Available
Ovine and caprine lentiviruses share the capacity to induce slowly progressive and inflammatory diseases of the central nervous system (leukoencephalitis or visna), lungs (progressive pneumonia or maedi),...Full Text Available
Arbuscular mycorrhizal fungi (AMF) are ecologically important root symbionts of most terrestrial plants. Ecological studies of AMF have concentrated on differences between species; largely assuming...Full Text Available
Genetic effects on mechanical properties have been demonstrated in rodents, but not confirmed in primates. Our aim was to quantify the proportion of variation in vertebral trabecular bone mechanical...Full Text Available
Though the genetic background of ischaemic and haemorrhagic stroke is often polygenetic or multifactorial, it can in some cases result from a monogenic disease, particularly in young adults. Besides...Full Text Available
Chemical genetics is an emerging approach to investigate the biology of host-pathogen interactions. We screened several inhibitors of ATP-dependent DNA motors and detected the gyrase B inhibitor coumermycin...Full Text Available
BackgroundCucumber, Cucumis sativus L. is an important vegetable crop worldwide. Until very recently, cucumber genetic and genomic resources, especially molecular...Full Text Available
Phenylalanine hydroxylase was purified from crude extracts of human livers which show enzyme activity by usine two different methods: (a) affinity chromatography and (b) immunoprecipitation with an...Full Text Available
Stargardt-like macular degeneration (STGD3) is an early onset, autosomal dominant macular degeneration. STGD3 is characterized by a progressive pathology, the loss of central vision, atrophy...Full Text Available
DNA from the peripheral blood mononuclear cells of 17 different individuals infected with human T-cell lymphoma/leukemia virus type II (HTLV-II) was successfully amplified by the polymerase chain reaction...Full Text Available
Available in vitro and animal studies have shown cancer protective effects of tea polyphenols. Recent study suggests a greater protective effect of green tea intake on breast cancer...Full Text Available
Exercise is essential for health, yet the amount, duration, and intensity that individuals engage in are strikingly variable, even under prescription. Our focus was to identify the locations and effects...Full Text Available
Neurofibromatosis type 1 (NF1) results from mutations in the NF1 tumor suppressor gene, which encodes the protein neurofibromin. NF1 patients display diverse clinical manifestations,...Full Text Available
... 16223, 16292, and 16295, which classify them as haplogroup W (Richards et al. 2000). The sample that was ... belonged to haplogroup B, 2 individuals belonged to haplogroup W, and 1 individual belonged to ...
In the context of social dilemmas, previous research has shown that human cooperation is mainly based on the social norm of conditional cooperation. While in most cases individuals behave according...Full Text Available
γ-Aminobutyric acid (GABA)-ergic transmission is critical for normal cortical function and is likely abnormal in a variety of neuropsychiatric disorders. We tested the in...Full Text Available
Purpose of reviewSevere congenital neutropenia (SCN) is a primary immunodeficiency in which lack of neutrophils causes inadequate innate immune host response to bacterial...Full Text Available
BackgroundBerberine is a plant alkaloid that is widely used as an anti-infective in traditional medicine. Escherichia coli exposed to berberine form filaments, suggesting...Full Text Available
SummaryBlastomycosis is a serious and potentially fatal infection by the thermally dimorphic fungus Blastomyces dermatitidis. PCR assays targeting the BAD-1 virulence...Full Text Available
The neuronal nitric oxide synthase gene (NOS1) is located at 12q24, a susceptibility region for schizophrenia, and produces nitric oxide (NO). NO has been reported to play important...Full Text Available
Keap1 regulates Nrf2 activity in response to xenobiotic and oxidative stresses. Nrf2 is an essential regulator of cytoprotective genes. Keap1-null mice are lethal by weaning age due...Full Text Available
Cigarette smoke (CS) induces recruitment of inflammatory cells in the lungs leading to the generation of reactive oxygen species (ROS), which are involved in lung inflammation and injury. Nicotinamide...Full Text Available
The genetic systems of bacteria that have the ability to use organic pollutants as carbon and energy sources can be adapted to create bacterial biosensors for the detection of industrial pollution....Full Text Available
Despite the recent success of genome-wide association studies (GWASs) in identifying loci consistently associated with coronary artery disease (CAD), a large proportion of the genetic components of...Full Text Available
Most human diseases are related in some way to the loss or gain in gene functions. Regulation of gene expression is a complex process. In addition to genetic mechanisms, epigenetic causes are...Full Text Available
BackgroundParathyroid adenomas constitute the most common entity in primary hyperparathyroidism, and although recent advances have been made regarding the underlying genetic cause...Full Text Available
Four cases of unilateral giant breasts from two unrelated families are described. Three of the patients were managed surgically. It is speculated from a review of available published reports that this...Full Text Available
BackgroundSevere sepsis and septic shock are major causes of morbidity and mortality worldwide. In experimental sepsis there is prominent apoptosis of various cell types, and genetic...Full Text Available
BackgroundNon-small cell lung cancer (NSCLC) is the foremost cause of cancer-related death in Western countries, which is due partly to the propensity of NSCLC cells to metastasize....Full Text Available
The incidence of melanoma is increasing more than any other cancer, and knowledge of its genetic alterations is limited. To systematically analyze such alterations, we performed whole-exome...Full Text Available
The effective population size (Ne) is an important parameter in ecology, evolutionary biology and conservation biology. It is, however, notoriously difficult to estimate,...Full Text Available
Objectives7. (b) Objectives General background Livestock production accounts for 70% of the agricultural land on the planet. Given that demand for livestock products is expected to double by 2050 it is vital that we identify less polluting ways of production, spanning both intensive and extensive systems. Northern Europe is one of the few parts of the globe where climate change is expected to be neutral or even benefit agricultural productivity. Hence it is likely to make an even more important co [continued...]DescriptionRuminant genetic improvement can play an important role in developing livestock systems that will be sustainable in the future, and produce food in an environmentally friendly manner. Also, genetic improvement of livestock is a particularly cost-effective technology, producing permanent and cumulative changes in performance. Moran et al (2007) showed the very high value of animal and plant genetics ...
Microbial degradation of aromatic hydrocarbons has been studied with the aim of developing applications for the removal of toxic compounds. Efforts have been directed toward the genetic manipulation...Full Text Available
The programming of cellular networks to achieve new biological functions depends on the development of genetic tools that link the presence of a molecular signal to gene-regulatory activity. Recently,...Full Text Available
BackgroundThere is an ever increasing rate of data made available on genetic variation, transcriptomes and proteomes. Similarly, a growing variety of bioinformatic programs are becoming...Full Text Available
While pleiotropic adaptive mutations are thought to be central for evolution, little is known on the downstream molecular effects allowing adaptation to complex ecologically relevant environments. Here...Full Text Available
Whereas genetic factors are known to influence both susceptibility to carcinogens and the capacity to respond to specific antigenic stimuli, little is known regarding the influence of phenotype per...Full Text Available
Molecular genetic analysis of Borrelia burgdorferi, the cause of Lyme disease, has been hampered by the absence of any means of efficient generation, identification, and complementation...Full Text Available
Denaturing high-performance liquid chromatography (DHPLC) has been used extensively to detect genetic variation. We used this method to detect and identify Yersinia pestis KIM5 ciprofloxacin-resistant...Full Text Available
Many epidemiological evidences have proven the association between smoking and periodontal disease. The causality can be further established by linking findings of traditional epidemiological studies...Full Text Available
DNA barcodes linked to genetic features greatly facilitate screening these features in pooled formats using microarray hybridization, and new tools are needed to design large sets of barcodes to allow...Full Text Available
OBJECTIVEPrevious studies showed that genetic deletion or pharmacological blockade of the receptor for advanced glycation end products (RAGE) prevents the early structural changes...Full Text Available
Spontaneous mouse models of cancer show promise to more accurately recapitulate human disease and predict clinical efficacy. Transgenic mice or viral vectors have been required to generate spontaneous...Full Text Available
Despite their ecological and economical importance, fishes of the family Ariidae are still genetically and cytogenetically poorly studied. Among the 133 known species of ariids, only eight have been...Full Text Available
The extensive diversity of Plasmodium falciparum antigens is a major obstacle to a broadly effective malaria vaccine but population genetics has rarely been used to guide vaccine design....Full Text Available
Competent Haemophilus cells recognize and preferentially take up Haemophilus DNA during genetic transformation. This preferential uptake is correlated with the presence on incoming DNA of an 11-base-pair...Full Text Available
Enterotoxigenic Escherichia coli (ETEC) is a leading cause of diarrhea in travelers to countries where the disease is endemic and causes a major disease burden in the indigenous population,...Full Text Available
Clinical applications of genetic therapies, including delivery of short, interfering RNAs (siRNAs) for RNA interference (RNAi), are limited due to the difficulty of delivering nucleic acids...Full Text Available
Alveolar enlargement, which is characteristic of bronchopulmonary dysplasia, congenital matrix disorders, and cigarette smoke-induced emphysema, is thought to result from enhanced inflammation and ensuing...Full Text Available
The two haploid genome sequences that a person inherits from the two parents represent the most fundamentally useful type of genetic information for the study of heritable diseases and the development...Full Text Available
Comparative genetic maps of Papuan Saccharum officinarum L. (2n = 80) and S. robustum (2n = 80) were constructed by using single-dose...Full Text Available
Phosphorus is an essential mineral that maintains cellular energy and mineralizes the skeleton. Because complex actions of ion transporters and regulatory hormones regulate serum phosphorus concentrations,...Full Text Available
Mechanisms regulating sexual differentiation of the zebra finch song system appear to include both genetic and hormonal factors. Sorting Nexin 2 (SNX2), which is involved in trafficking proteins...Full Text Available
BackgroundThe southern African tick shell, Nassarius kraussianus (Dunker, 1846), has been identified as being the earliest known ornamental object used by human...Full Text Available
A high-throughput assay for enzyme activity has been developed that is reaction independent. In this assay, a small-molecule yeast three-hybrid system is used to link enzyme catalysis to transcription...Full Text Available
Calcium, vitamin D, exposure to sunshine, and vitamin D receptor (VDR) genotypes have been associated rectal cancer. We used data from 750 rectal tumors and 1,205 population-based...Full Text Available
Although salamanders are characteristic amphibians in Holarctic temperate habitats, in tropical regions they have diversified evolutionarily only in tropical America. An adaptive radiation centered...Full Text Available
The honeybee has been the most important insect species for study of social behavior. The recently released draft genomic sequence for the bee will accelerate honeybee behavioral genetics. Although...Full Text Available
Introduction:Smoking behaviors, including heaviness of smoking and smoking cessation, are known to be under a degree of genetic influence. The enzyme catechol O-methyltransferase...Full Text Available
Familial defective apolipoprotein (apo) B-100 is a genetic disease that leads to hypercholesterolemia and to an increased serum concentration of low density lipoproteins that bind defectively to the...Full Text Available
BackgroundLifestyle, genetics and environmental factors are established determinants of bone density. We aimed to describe the bone characteristics of competitive top-ranked Nigerian...Full Text Available
The Wistar Kyoto (WKY) rat strain is a putative genetic model of comorbid depression and anxiety. Previous research showing increased κ-opioid receptor (KOR)...Full Text Available
PurposeTo report the clinical, ophthalmic, and genetic characteristics for lattice corneal dystrophy type I (LCDI) in a Chilean family.MethodsSix...Full Text Available
Pharmacologic or genetic deletion of components of the renin-angiotensin system leads to postnatal kidney injury, but the roles of these components in kidney development are unknown. To test the hypothesis...Full Text Available
BackgroundMany commercial banana varieties lack sources of resistance to pests and diseases, as a consequence of sterility and narrow genetic background. Fertile wild relatives,...Full Text Available
BackgroundType A1 Clostridium botulinum strains are a group of Gram-positive, spore-forming anaerobic bacteria that produce a genetically, biochemically, and biophysically...Full Text Available
BackgroundGenomics has substantially changed our approach to cancer research. Gene expression profiling, for example, has been utilized to delineate subtypes of cancer, and facilitated...Full Text Available
Signatures of natural selection occur throughout the human genome and can be detected at the sequence level. We have re-sequenced ABCE1, a host candidate gene essential for...Full Text Available
BackgroundMalaria resistance by the sickle cell trait (genotype HbAS) has served as the prime example of genetic selection for over half a century. Nevertheless, the mechanism...Full Text Available
Hundreds of thousands of people worldwide live or work in close proximity to steel mills. Integrated steel production generates chemical pollution containing compounds that can induce genetic damage...Full Text Available
A remarkable discovery of recent years is that, despite the complexity of ageing, simple genetic interventions can increase lifespan and improve health during ageing in laboratory animals. The pathways...Full Text Available
Genetic test systems involving microorganisms and liver enzyme preparations may be insufficient to detect compounds that require breakdown by enzymes provided by the microbial flora of the intestinal...Full Text Available
Reciprocal mass crosses and back-crosses were performed between two homogeneous strains of the housefly (Musca domestica L.), representing the extremes in susceptibility and resistance...Full Text Available
A statistical method is presented for detecting quantitative trait loci (QTLs), based on the linear model. Unlike methods able to detect a few well separated QTLs and to estimate their effects and positions, this method considers the genome as a whole and enables the detection of chromosomal segments involved in the differences between two homozygous lines, and their backcross, doubled haploid, or F[sub 2] progenies, for a quantitative trait. Genetic markers must be codominant, but missing markers are accepted, provided they are missing independently from the experiment. Asymptotic properties, which are of practical use, are developed. This method does not rely on strong genetic hypotheses, and thus does not permit any precise genetic analysis of the trait under study, but it does assess which regions of the genome are involved, whatever the complexity of the genetic determinism (number, effects and ...
ObjectiveThe goal of the study was to investigate the genetic and molecular basis of a novel syndrome of marked hyperglucagonemia and pancreatic α cell hyperplasia...Full Text Available
Inherited genetic variation has a critical but as yet largely uncharacterized role in human disease. Here we report a public database of common variation in the human genome: more than one million...Full Text Available
BackgroundStable transgenesis is an undeniable key to understanding any genetic system. Retrovirus-based insertional strategies, which feature several technical challenges when they...Full Text Available
During complementary chromatic adaptation (CCA), cyanobacterial light harvesting structures called phycobilisomes are restructured in response to ambient light quality shifts. Transcription of genes...Full Text Available
Picocyanobacteria of the genus Synechococcus are important contributors to marine primary production and are ubiquitous in the world's oceans. This genus is genetically diverse, and...Full Text Available
Fate maps are generated by marking and tracking cells in vivo to determine how progenitors contribute to specific structures and cell types in developing and adult tissue. An advance in this...Full Text Available
Large-scale cancer genome projects will soon be able to sequence many cancer genomes to comprehensively identify genetic changes in human cancer. Genome-wide association studies have also identified...Full Text Available
...treated for leukemia. B' s physician, who is employed by the HMO, is considering a treatment plan that includes six-mercaptopurine, a drug for treating leukemia in most children. However, the drug could be fatal if taken by a small percentage of...
Theory predicts trade-offs between investment in various life history traits, and it is also now generally accepted that reproduction is costly for males. Males must therefore optimize resource allocation across several episodes of reproduction, and this includes investment in both pre- and postcopulatory fitness components. We investigated this in the sperm-polymorphic Indian meal moth, Plodia interpunctella. Resource-limited males were smaller, and had decreased precopulatory mating success, measured as lifetime number of matings. However, they transferred similar numbers of fertile sperm as males reared under high-quality larval conditions, and more nonfertile sperm. By mating less frequently, resource-limited males may allocate sufficient resources to the matings they achieve to ensure...
A novel continuous laminar shear structuring crystallizer with a suitable cooling system was designed and built. This is a new method to continuously crystallize edible fat in the desirable polymorphic form from the melt while being uniformly sheared.The machine consists of four main sections: Feed unit, shearing mechanism, cooling system and power unit. In each of these sections specific design considerations are taken into account which makes the process controllable and continuous. The shearing unit is made of two concentric cylinders. The internal cylinder is stationary and has a cooling system inside for temperature control. The outer cylinder rotates to produce a uniform shear in the sample fluid placed in the 1.5mm gap between the cylinders. The sample's feed rate is controlled whil...
As a consequence of the close integration of cattle into the food chain of humans, forensically relevant cases involving cattle (Bos taurus) DNA analysis are common. However, scientific publications reporting the information content of the commonly used bovine short tandem repeat (STR) loci remains scarce. Population studies were performed for 16 polymorphic STR loci (BM1818, BM1824, BM2113, CSRM60, CSSM66, ETH3, ETH10, ETH225, HAUT27, ILSTS006, INRA023, SPS115, TGLA53, TGLA122, TGLA126, and TGLA227) including 4,162 randomly selected cattle representing 20 distinct breeds. The power of parental exclusion, expected and observed heterozygosity, probability of identity, and non-amplifying (?null?) allele frequencies were calculated. Major differences existed in the information content between...
Summary CAG trinucleotide repeat length in the nuclear polymerase gamma gene (POLg) has been shown to be associated with men with reduced fertility. The present study investigated the frequency of CAG repeat length genotypes and three exonuclease motifs of the POLg in relation to the frequency of mitochondrial nucleotide substitutions. DNA from semen samples of 93 normozoospermic men and 192 non-normozoospermic men was isolated and the specific regions of the genes were amplified by polymerase chain reactions (PCR) and sequenced to identify mutations. The genotypic frequencies of pooled POLg CAG repeat lengths, =10/!=10 heterozygotes and !=10/!=10 homozygotes, were significantly different between normozoospermic and non-normozoospermic men (p p POLg genotype. Of the 17 men with non-synonym...
We report localization of the human cone transducin (GNAT2) gene using fluorescence in situ hybridization on chromosome 1 in band p13. The recent assignment of a gene for Stargardt disease to the same chromosomal region by linkage analysis prompted us to investigate the possible role of GNAT2 in the pathogenesis of this disease. We investigated 66 unrelated patients for mutations in the coding region of the GNAT2 gene using polymerase chain reaction-single strand conformation polymorphism analysis (SSCP) and direct sequencing. No disease-specific mutations were found, indicating that GNAT2 is probably not involved in the pathogenesis of most cases of Stargardt disease. 19 refs., 1 fig., 1 tab.
Large single crystals of PETN, RDX, and TNT can be grown easily from evaporating ethyl acetate solutions. The crystals all share a similar type of defect that may not be commonly recognized. The defect generates conical faces ideally mosaic crystals, and may account for the polymorphs'' of TNT and detonator grades of PETN. TATB crystals manufactured by the amination of trichlorotrinitrobenzene in dry toluene entrain two forms of ammonium chloride. One of these forms causes worm holes'' in the TATB crystals that may be the reason for its unusually low failure diameters. Strained HMX crystals form mechanical twins that can spontaneously revert back to the untwinned form when the straining force is removed. Large strains or temperatures above 100[degrees]C lock in the mechanical twins.
Large single crystals of PETN, RDX, and TNT can be grown easily from evaporating ethyl acetate solutions. The crystals all share a similar type of defect that may not be commonly recognized. The defect generates conical faces ideally mosaic crystals, and may account for the ``polymorphs`` of TNT and detonator grades of PETN. TATB crystals manufactured by the amination of trichlorotrinitrobenzene in dry toluene entrain two forms of ammonium chloride. One of these forms causes ``worm holes`` in the TATB crystals that may be the reason for its unusually low failure diameters. Strained HMX crystals form mechanical twins that can spontaneously revert back to the untwinned form when the straining force is removed. Large strains or temperatures above 100{degrees}C lock in the mechanical twins.
SummaryBackgroundCandida albicans is one of the most important etiologic agents causing superficial and deep fungal infections. For prevention of candidiasis, it is important to develop a rapid system that discriminates C. albicans at the strain level.ObjectiveTo develop a system that can identify C. albicans at the strain level.MethodsGenomic DNAs were purified from 179 clinical isolates of C. albicans, and were used as templates for PCR amplification of 25S rDNA and ALT repeats in repetitive sequences (RPSs). PCR products generated from ALT repeats were digested with EcoRI and/or ClaI in order to study the relationships between restriction profiles and amplification profiles.ResultsOne hundred and seventy nine clinical isolates were grouped into genotypes A (92 isolates), B (38 isolates)...
Several old and new observations suggest the existence in Crohn's disease of a phagocytic disorder of macrophages related to impaired bactericidal activity of host cells or to the presence of invasive bacteria that have developed strategies to counteract macrophage killing. It was recently reported that disordered macrophage cytokine secretion underlies impaired acute inflammation and bacterial clearance in Crohn's disease. Secretion of proinflammatory cytokines by CD macrophages was impaired in response to E. coli or specific Toll-like receptor agonists. In addition, major advances in the etiology of Crohn's disease came from the existence of polymorphism in NOD2 and autophagy-related susceptibility genes (ATG16L1 and IRGM) in patients and from the identification of the presence of adhere...
A survey is presented of the principles and practice of tailoring sintering liquid composition and processing cycle to enable crystallisation of intergranular phases in silicon nitride and sialon ceramics. Critical features in sialon ceramics are the O/N balance in residual glasses and post-sintering heat-treatment temperatures to enable nucleation of either intermediate phases at constant composition or oxide phases with re-partitioning of non stoichiometric components in #beta#' or #alpha#' solid solutions. Crystallisation of disilicate phases in non-sialon compositions exemplifies a problem in control of polymorphs with differing atomic volumes. Crystallisation of intergranular phases has an influence mainly on high-temperature mechanical and environmental behaviour of these ceramics. (orig.).
As Darwin portended but failed to develop, and of which Gould made much, the forensic evidence of evolution points toward Punctuated Equilibrium rather than Phyletic Gradualism; however Gould?s empirical postulation has long suffered from its lack of a testable theoretical basis. This is rectified by the work of Jaroslav Flegr and the Frozen Plasticity Theory, a hypothesis with striking application within semiotic theory and hence to questions of epistemology and ontology. The consequences of applying FPT within Biosemiotics is this: when any particular sign carries a great range of interpretation (semiotic polymorphism) combined with a high degree of mutually supportive referencing (semiotic pleiotropy), that sign is less likely to exhibit plasticity?less able to find new expressions capa...
Abstract Gelatinization temperature (GT) is an important parameter in evaluating the cooking and eating quality of rice. Indeed, the phenotype, biochemistry and inheritance of GT have been widely studied in recent times. Previous map-based cloning revealed that GT was controlled by ALK gene, which encodes a putative soluble starch synthase II-3. Complementation vector and RNAi vector were constructed and transformed into Nipponbare mediated by Agrobacterium. Phenotypic and molecular analyses of transgenic lines provided direct evidence for ALK as a key gene for GT. Meanwhile, amylose content, gel consistency and pasting properties were also affected in transgenic lines. Two of four nonsynonymous single nucleotide polymorphisms in coding sequence of ALK were identified as essential for GT. ...
In this paper the Sudoku problem is solved using stochastic search techniques and these are: Cultural Genetic Algorithm (CGA), Repulsive Particle Swarm Optimization (RPSO), Quantum Simulated Annealing (QSA) and the Hybrid method that combines Genetic Algorithm with Simulated Annealing (HGASA). The results obtained show that the CGA, QSA and HGASA are able to solve the Sudoku puzzle with CGA finding a solution in 28 seconds, while QSA finding a solution in 65 seconds and HGASA in 1.447 seconds. This is mainly because HGASA combines the parallel searching of GA with the flexibility of SA. The RPSO was found to be unable to solve the puzzle.
In this paper, it is suggested that the selection method of optimal parameter of power system stabilizer (PSS) with robustness in low frequency oscillation for power system using real variable elitism genetic algorithm (RVEGA). The optimal parameters were selected in the case of power system stabilizer with one lead compensator, and two lead compensator. Also, the frequency responses characteristics of PSS, the system eigenvalues criterion and the dynamic characteristics were considered in the normal load and the heavy load, which proved usefulness of RVEGA compare with Yu's compensator design theory. (author). 20 refs., 15 figs., 8 tabs.
Gaussian-process models are developed to detect genetic linkage using complete high-resolution maps of identity by descent between affected relative pairs. Approximations are given for the significance level and power of the likelihood-ratio test of no linkage and for likelihood-ratio confidence regions for trait loci. The sample sizes required to detect linkage by using different classes of affected relative pairs are compared, and the problem of combining data from different classes of relatives is discussed. 23 refs., 2 figs.
The genetically and leukemia-significant doses (GSD and LSD) were calculated from the average gonad and bone marrow doses caused by the most frequently applied radiopharmaceuticals in Bulgaria in 1976. Because of the lack of information about the age groups of the patients examined assumptions have been made which led to estimated values of 0.97 mrad for GSD and 2.0 mrad for LSD which must be considered as the upper limit of the real GSD and LSD. The influence of the different radiopharmaceuticals on the average radiation exposure of the population is discussed. (author).
A colony PCR technique was applied for both genomic and chloroplast DNA in the green microalgae Chlorella. Of five different lysis buffers, Chelex-100 was superior for DNA extraction, PCR and DNA storage. It also was insensitive to variations in cell density. The conditions established for an improved PCR formulation are applicable for screening of genetically-engineered transformants as well as bioprospecting of natural microalgal isolates. Besides multiple Chlorella species, we also demonstrate the efficacy of Chelex-100 for colony PCR with a number of other microalgal strains, including Chlamydomonas reinhardtii, Dunaliella salina, Nannochloropsis sp., Coccomyxa sp., and Thalassiosira pseudonana. PMID:21431847
During one year more than 40,000 items of information on radiation exposure of personnel involved in the handling of radiation sources and more than 5,000,000 items on irradiation of other people are collected in the authors' laboratory. Considerable progress in assessment of mean annual gonad dose of genetically sifnificant dose was attained by means of an algorithm for a personal computer. This simple and inexpensive system has led to a higher accuracy in the application of protective measures. (author).
We present deep images of dust continuum emission at 450, 800, and 850 micron of the dark cloud LDN 1689N which harbors the low-mass young stellar objects (YSOs) IRAS 16293-2422A and B (I16293A and I16293B) and the cold prestellar object I16293E. Toward the positions of I16293A and E we also obtained spectra of CO-isotopomers and deep submillimeter observations of chemically related molecules with high critical densities. To I16293A we report the detection of the HDO 1_01 - 0_00 and H2O 1_10 - 1_01 ground-state transitions as broad self-reversed emission profiles with narrow absorption, and a tentative detection of H2D+ 1_10 - 1_11. To I16293E we detect weak emission of subthermally excited HDO 1_01 - 0_00. Based on this set of submillimeter continuum and line data we model the envelopes around I16293A and E. The density and velocity structure of I16293A is fit by an inside-out collapse model, yielding a sound speed of a=0.7 km/s, an age of t=(0.6--2.5)e4 yr, and a ...
Nuclear analytical techniques were applied to determine the elemental compositions of suspended and bottom sediments, collected at different sites in Haiphong harbor area (North Viet nam). The study was aimed at: 1/Understanding the origin of the sediment filling up the access channel and causing large expenditures for dredging operations. 2/Determining the background concentrations of trace elements in sediment. This would allow to detect in the future any pollution caused by the discharge of industrial wastes in the water due to the growing industrialization of the area. 3/Identifying the elements, which can be served as activatable tracers in sediment transport studies. The results obtained for the concentrations of nearly 30 elements show rather similar elemental compositions, reflecting a common origin of the sediments taken from different locations in the harbour area. The results could not allow to identify the pathway of the sediment transported to and ...
As part of an ongoing strategic research project to find barrels of radioactive waste off San Francisco, the U.S. Navy (USN), the U.S. Geological Survey (USGS), and the Gulf of the Farallones National Marine Sanctuary (GFNMS) pooled their expertise, resources, and technology to form a partnership to verify new computer enhancement techniques developed for detecting targets the size of 55 gallon barrels on sidescan sonar images. Between 1946 and 1970, approximately 47,800 large barrels and other containers of radioactive waste were dumped in the ocean west of San Francisco; the containers litter an area of the sea floor of at least 1400 km {sup 2} knows as the Farallon Island Radioactive Waste Dump. The exact location of the containers and the potential hazard the containers pose to the environment is unknown. The USGS developed computer techniques and contracted with private industry to enhance sidescan data, collected in cooperation with the GFNMS, to detect objects as small as 55 ...
We have previously shown that budded viruses of Bombyx mori nucleopolyhedrovirus (BmNPV) enter the cell cytoplasm but do not migrate into the nuclei of non-permissive Sf9 cells that support a high titer of Autographa californica multicapsid nucleopolyhedrovirus (AcMNPV) multiplication. Here we show, using the syncytium formation assay, that low-pH-triggered membrane fusion of BmNPV GP64 protein (Bm-GP64) is significantly lower than that of AcMNPV GP64 protein (Ac-GP64). Mutational analyses of GP64 proteins revealed that a single amino acid substitution between Ac-GP64 H155 and Bm-GP64 Y153 can have significant positive or negative effects on membrane fusion activity. Studies using bacmid-based GP64 recombinant AcMNPV harboring point-mutated ac-gp64 and bm-gp64 genes showed that Ac-GP64 H155Y and Bm-GP64 Y153H substitutions decreased and increased, respectively, the multiplication and cell-to-cell spread of progeny viruses. These results indicate that Ac-GP64 H155 ...
The medical applications of radiation comprise three main fields namely: Diagnostic Radiology, Radiotherapy and Nuclear Medicine. With the new weighting factors of ICRP (IC91a) the effective dose due to medical applications can be established. I is common to separate the effective dose into the genetic part and the somatic part, SED. In dealing with gonad doses it is important to account for the age of the person at the time of exposure as this will influence the number of children still to be expected from that person. The resulting dose will then be called the genetically significant dose, GSD. In a similar fashion this age factor will be important in considering the chance of tumor induction. The age of patients differs considerably from the average age of the general population. This age difference has to be accounted for if a comparison is to be made with other sources of radiation. This justifies establishing a somatically significant ...
Dose measurements were performed in several body regions of patients suffering from inflammatory degenerative diseases (humeral epicondylitis, humeroscapular periarthritis, gonarthrosis, axillary hidradenitis, rheumatoid arthritis, coxarthrosis, parotitis). The problem of the radiation induction of neoplasms is predominant concerning somatic as well as genetic risk, discussed by example of the most frequently occurring organ cancer. Compared to the rate of breast cancer in the highly developed industrial states (5,000 to 6,000 cancers/100,000 women) the 'radiation induction' calculated according to a mathematical model of ICRP 26 (1.25 cases of death for breast cancers/100,000 women following for example irradiation of epicondylitis) is behind several powers of ten and not demonstrable. The genetic radiation exposure is also low. Derived from the measurements it is wrong to give up reliable and approved indications of radiotherapy of ...
Developing markets in the Pacific Basin depend heavily on the production and export of consumer goods. The generation of hazardous waste as a by-product of industrial production can be linked to adverse health outcomes, such as childhood leukemia, in ways that are presently unknown. In California, exposures resulting from hazardous waste disposal are of concern in the etiology of childhood cancer. Approximately 63% of the 57 hazardous waste sites that the U.S. Environmental Protection Agency (USEPA) included in the national priority list under the Comprehensive Environmental Response, Compensation and Liability Act (CERCLA) statute were in the six-county San Francisco Bay area. This area includes California`s Silicon Valley, where a disproportionate majority of these sites are located. Although only one study links hazardous waste disposal to childhood leukemia evidence is accumulating that in utero and maternal pesticide exposures as well as chemical exposures during childhood are ...
Genetic mapping is approached using the techniques of high resolution fluorescence in situ hybridization (FISH). This technology and the results of its application are designed to rapidly generate whole genome as tool box of expressed sequence to speed the identification of human disease genes. The results of this study are intended to dovetail with and to link the results of existing technologies for creating backbone YAC and genetic maps. In the first eight months, this approach generated 60--80% of the expressed sequence map, the remainder expected to be derived through more long-term, labor-intensive, regional chromosomal gene searches or sequencing. The laboratory has made significant progress in the set-up phase, in mapping fetal and adult brain and other cDNAs, in testing a model system for directly linking genetic and physical maps using FISH with small fragments, in setting up a database, and in establishing the ...
Men who have sex with men (MSM) have become one of the populations with severely HIV prevalence in China. However, very few genetic studies have been done on HIV-1 spreading in this population. In this study, the genetic characterization of HIV-1 strains prevalent in the MSM in Shijiazhuang, China, was analyzed basing on the HIV-1 full-length gag, pol, and partial env gene. 21 drug-naive HIV-1 sero-positive patients were enrolled into the study. Full length gag, pol, partial env genes and some near full length genomes were amplified with nest RT-PCR followed by sequencing. Multiple subtypes, including CRF01_AE (52.9%), subtype B (35.3%) and CRF07_BC (11.8%), were found in the population. Phylogenetic analysis showed close relationship between our strains with those from Beijing MSM but not...
The genetically significant dose (GSD) is an index variable which exclusively allows to describe the genetic risk in the progeny of a population due to the application of ionizing radiation and radioactive substances in one part of this population. It may result in wrong interpretation of population exposure at increasing incidence of examinations in a population involving ionizing radiation and radioactive drugs at simultaneously increasing application of alternative methods in children and adolescents owing to the fact that it indicates a downward trend although somatic exposure of this population has increased. Therefore, it is recommended to state both the GSD and the level of somatic radiation exposure of the population taken from the individual sources for the comparison and assessment of radiation exposure from various sources in future. Although the somatically significant dose constitutes the suitable variable complementary to GSD in ...
The Bioenergy Feedstock Development Program, Environmental Sciences Division, Oak Ridge National Laboratory is developing poplars (Populus species and hybrids) as sources of renewable energy, i.e., ethanol. Notable increases in adaptability, volume productivity, and pest/stress resistance have been achieved via classical selection and breeding and intensified cultural practices. Significant advances have also been made in the efficiencies of harvesting and handling systems. Given these and anticipated accomplishments, program leaders are considering shifting some attention to genetically modifying feedstock physical and chemical properties, so as to improve the efficiency with which feedstocks can be converted to ethanol. This report provides an in-depth review and synthesis of opportunities for and feasibilities of genetically modifying feedstock qualities via classical selection and breeding, marker-aided selection and breeding, and ...
Biological control agents can be more effective if their populations are genetically diverse, particularly when the target invasive plant comprises a range of genotypes with different susceptibilities and occurs across various microclimates. We report on the use of an efficient approach to find, in the native range, diverse isolates of a rust fungus for biological control. An outdoor trap garden containing various clones of invasive European blackberry (Rubus fruticosus agg.) collected in Australia, each with a different DNA phenotype, was established in France. Within 4?weeks of establishment, the leaf-rust fungus Phragmidium violaceum was recovered from all clones in the garden. Molecular analyses of eight recovered and purified isolates of the fungus from the garden revealed that they w...
Drosophila melanogaster is a model organism rich in genetic tools to manipulate and identify neural circuits involved in specific behaviors. Here we present a technique for two-photon calcium imaging in the central brain of head-fixed Drosophila walking on an air-supported ball. The ball's motion is tracked at high resolution and can be treated as a proxy for the fly's own movements. We used the genetically encoded calcium sensor, GCaMP3.0, to record from important elements of the motion-processing pathway, the horizontal-system lobula plate tangential cells (LPTCs) in the fly optic lobe. We presented motion stimuli to the tethered fly and found that calcium transients in horizontal-system neurons correlated with robust optomotor behavior during walking. Our technique allows both behavior ...
Previous family and twin studies have indicated that Graves' disease has a heritable component. Family studies have also shown that some autoimmune disease cluster in families and genetic studies have been able to show shared susceptibility genes. In the present nation-wide study we describe familial risk for Graves' disease among parents and offspring, singleton siblings, twins and spouses with regard to age of onset, gender and number and type of affected family members. Additionally familial association of Graves' disease with any of 33 other autoimmune and related conditions was analyzed. The Swedish Multigeneration Register on 0-75-year-old subjects was linked to the Hospital Discharge Register from years 1987-2007. Standardized incidence ratios (SIRs) were calculated for individuals ...
The GSD must be considered as a quantity by means of which the risk in a given population can be described exclusively in terms of genetic risk. In cases of a simultaneous increase in the rate of examinations, the GSD may lead to a misinterpretation of the population exposure, suggesting a decreasing trend, although there is an actual increase in the somatic radiation exposure. It is recommended to indicate not only the GSD but also the amount of somatic radiation exposure of the population for each specific source when comparing and evaluating radiation exposures from different sources. Although the somatically significant dose formally would be suited as a complement to the GSD, it is recommended to use the effective per caput dose equivalent. It must be pointed out that the application of the concept of effective dose equivalent is only appropriate for comparative evaluations of the population exposure to different sources of radiation. (orig./HP).
Background Previous reports in adults have suggested that the effects experienced after cannabis use can be described in terms of positive and negative subtypes that are heritable and are associated with abuse and dependence. This study extends existing research by inclusion of adolescents and young adults in an offspring of twins design which makes it possible to take into account genetic and environmental risks for substance use disorder. Methods Data were collected from 725 twin members of the Vietnam Era Twin Registry, 839 of their 12-32 year old biological offspring and 427 mothers. Offspring who had ever used cannabis (n=464) were asked the degree to which they typically experienced 13 subjective effects shortly after using cannabis. Latent class analysis (LCA) was used to derive sub...
By measuring organ doses with TLD at an Alderson-Rando-phantom it was tested to evaluate the somatic risk for mammographies. Similarly as the genetic risk can be expressed by the genetic significant dose, the somatic risk can be expressed by the somatic significant dose index. The measurement results of the mammography show a large deviation of almost one power of ten with dependence of the chosen technique. In conventional xeroradiography and recording technique with foilless film the somatic radiation risk is the highest. By using amplifying foils in combination with high-sensitive films it is relatively small. Unfortunately the magnitude of the somatic risk in the different mammography techniques is in the ratio reciprocal to the corresponding image quality. At the time being the most favourable technique is mammography with a soft rastering method, although the xeromammography with additional high aluminium-filtering is a further ...
The somatic and genetic radiation exposure of patients undergoing Digital Subtraction Angiography (DSA) and traditional Film Arteriography (FA) of cranial, cervical, thoracic and abdominal vascular territories are compared. The radiation doses absorbed within the critical organs - red bone marrow, lung, thyroid gland and female breast - and in the gonads were measured using an anthropomorphic Alderson phantom. A Somatic Dose Index was calculated in order to estimate the somatic radiation risk. The somatic radiation exposure depends upon the location of the critical organs with respect to the entrance site of the x-ray beam, and can be reduced by an appropriate choice of the angiographic projection. Under this condition, the radiation exposure of the patient during DSA can be lower than during FA. For renal DSA an a.p. projection, the use of an abdominal compression device and careful caudal shielding of the field are advocated. (orig.).
Plasmid pRK404-a smaller derivative of RK2-is a tetracycline-resistant broad-host-range vector that carries a multiple cloning site and the lacZ(alpha) peptide that enables blue/white selection for cloned inserts in Escherichia coli. We present herein the complete and annotated sequence of pRK404 and three related vectors-pRK437, pRK442, and pRK442(H). These derivatives have proven to be valuable tools for genetic manipulation in Gram-negative bacteria. The knowledge of their complete sequences will facilitate efficient future engineering of them and will enhance their general applicability to the design of genetic systems for use in organisms for which new genomic sequence data are becoming available.
In defining criteria for good protection against ionizing radiation, it is important to assess quantitatively the likely risk of any radiation exposure. The 'somatic' risks to the individual result mainly from induction of cancer in the organs irradiated, and these risks can now be estimated on the basis of numerous detailed epidemiological surveys of exposed human populations. Estimates of the risk of hereditary effects, from genetic changes induced in germ cells, are based largely on the frequency with which such effects are induced in other species. In both cases the risk at very low dose can be inferred using knowledge of the way in which radiation damage is caused in tissues. Coherent systems of radiation protection are based on a restriction of doses to the whole body and to individual organs, such that the induction of cancer and genetic harm is infrequent, and the threshold dose for causing other, 'non-stochastic', effects is not ...
European sea bass (Dicentrarchus labrax L.) is a marine species of great economic importance, particularly in Mediterranean aquaculture. However, numerous pathogenic viruses, bacteria, fungi and parasites affect the species, causing various infectious diseases and thereby leading to the most heavy losses in aquaculture production of sea bass. In this respect, knowledge on molecular and genetic mechanisms of resistance to pathogens and specific features of immune response against various infectious agents should greatly benefit the development of effective vaccines and proper vaccination strategies in marker-assisted selection of fish resistant to a range of infections. To date, genetic knowledge on sea bass immune regulatory genes responsible for resistance to pathogens is relatively poor ...
To establish the phylogeographic relationships in rabies viruses in Brazil, we studied a dataset retrieved from GenBank consisting of 71 genetic sequences from the coding region of the N gene of rabies viruses isolated in dogs over a period of 22?years. The Bayesian Markov chain Monte Carlo method available in the BEAST package was used with the GTR+G+?4 evolutionary model in conjunction with the relaxed uncorrelated lognormal molecular clock model and an exponential growth tree prior. A discrete phylogeographic diffusion model was also analyzed using a standard continuous-time Markov chain viewed with Google Earth to provide a spatial projection of the diffusion of genetic lineages based on their phylogeographic relationships. The topology of the time and substitution phylogenetic trees a...
Selected applications of novel techniques in Agricultural Biotechnology, Health Food formulations and Medical Biotechnology are being reviewed with the aim of unraveling future developments and policy changes that are likely to open new markets for Biotechnology and prevent the shrinking or closing of existing ones. Amongst the selected novel techniques with applications in both Agricultural and Medical Biotechnology are: immobilized bacterial cells and enzymes, microencapsulation and liposome production, genetic manipulation of microorganisms, development of novel vaccines from plants, epigenomics of mammalian cells and organisms, and biocomputational tools for molecular modeling related to disease and Bioinformatics. Both fundamental and applied aspects of the emerging new techniques are being discussed in relation to their anticipated, marked impact on future markets and present policy changes that are needed for success in either Agricultural or Medical ...
Spondylarthritides (SpA) and inflammatory bowel disease (IBD) are idiopathic, chronic inflammatory disorders. Although they are very distinct and well-defined entities, there is clinical and genetic evidence supporting some degree of overlap between the pathogenesis of the two. Subclinical gut inflammation is present in up to two thirds of all SpA patients and can evolve into IBD. This subclinical gut inflammation has been shown to be strongly associated with joint inflammation, providing a clue for a common pathophysiologic background. Despite extensive research progress in the field over the past few years, many questions remain unanswered. In this paper, we focus on the clinical, genetic, and pathophysiologic overlap of SpA and IBD. Furthermore, we discuss some of the targets that may i...
The 50th anniversary of Mary Lyon?s 1961 Nature paper, proposing random inactivation in early embryonic life of one of the two X chromosomes in the cells of mammalian females, provides an opportunity to remember and celebrate the work of those involved. While the hypothesis was initially put forward by Lyon based on findings in the mouse, it was founded on earlier studies, notably the work of Susumu Ohno; it was also suggested independently by Beutler and colleagues using experimental evidence from a human X-linked disorder, glucose-6-phosphate dehydrogenase deficiency, and has proved to be of as great importance for human and medical genetics as it has for general mammalian genetics. Alongside the hypothesis itself, previous cytological studies of mouse and human chromosomes, and the obse...
Acca sellowiana has commercial potential because of the quality and the unique flavor of its fruit. Conservation of natural populations and management of breeding programmes would benefit from the availability of molecular markers that could be used to characterize levels and distribution of genetic variability. Thus, 13 microsatellite markers were developed from an enriched genomic library of A. sellowiana. They were characterized using 40 samples. The expected and observed heterozygosities ranged from 0.513 to 0.913 and from 0.200 to 0.889, respectively. These are the first microsatellite loci characterized from A. sellowiana that will contribute to improve researches on the genetic conservation, characterization and breeding. PMID:21586063
In the post Genome era, the aim of behavior genetics has shifted from estimating the relative contributions of genes and environmental factors to (co-)variation in human complex traits, to localization of genes and identification of functional genetic variants. This special issue reflects this transition and presents fifteen papers that report on genome-wide linkage scans for complex traits in humans and on methodological tools and innovations. Six papers focus on cognition and report overlapping linkage peaks on chromosomes 6p and 14p. Papers on addictive behavior, i.e. smoking and alcohol dependence and its endophenotypes, find moderate LOD scores on chromosomes 6p, 5q, 4p and 7q, respectively. Three papers concentrate on emotionality, depression and loneliness and examine chromosomes 2q...
In quantifying health risks arising from radiation exposure and synergistic effects promoted by radiation the dose-effect relationship must be used as a basis. Special problems arise in the extrapolation of experimental results or in the treatment of data in the region of low doses administered over long periods of time. For radiation protection purposes, especially manifestations of cancer and genetic effects are significant. The International Commission on Radiation Protection has published binding guiding values on the basis of which to assess the risk of cancer. The cancer risk and genetic risks are estimated for relevant dose ranges and compared with other factors of civilization. For the most important chemical pollutants emitted into the environment the possibilities of impacts arising from synergistic effects are discussed on the basis of the rules and regulations specified in German antipollution legislation. (orig.) 891 HP/orig. 892 ...
The heptageniid mayflies Epeorus latifolium and Epeorus l-nigrus are often the dominant species in the upper and midstream areas of Japanese rivers; as such, they play a significant role in river ecosystems. However, although these two species have been identified using the morphological characteristics of the male in its adult stage, it is impossible to differentiate them in their nymphal stage. We conducted a study to elucidate their distribution pattern, i.e., the current distribution of these two species in the Shinano-gawa River basin, based on quantitative field sampling and genetic analysis of nymphs and also some male adults; for these, it was possible to differentiate between the two species reliably. The data collected from the 30 study sites of the 1-year-long study revealed tha...
Strong gravitational lensing of an extended object is described by a mapping from source to image coordinates that is nonlinear and cannot generally be inverted analytically. Determining the structure of the source intensity distribution also requires a description of the blurring effect due to a point spread function. This initial study uses an iterative gravitational lens modeling scheme based on the semilinear method to determine the linear parameters (source intensity profile) of a strongly lensed system. Our 'matrix-free' approach avoids construction of the lens and blurring operators while retaining the least squares formulation of the problem. The parameters of an analytical lens model are found through nonlinear optimization by an advanced genetic algorithm (GA) and particle swarm optimizer (PSO). These global optimization routines are designed to explore the parameter space thoroughly, mapping model degeneracies in detail. We develop a novel method that ...
Abstract Copy number variants (CNVs) are known to be associated with complex neuropsychiatric disorders (e.g., schizophrenia and autism) but have not been explored in the isolated features of aggressive behaviors such as intermittent explosive disorder (IED). IED is characterized by recurrent episodes of aggression in which individuals act impulsively and grossly out of proportion from the involved stressors. Previous studies have identified genetic variants in the serotonergic pathway that play a role in susceptibility to this behavior, but additional contributors have not been identified. Therefore, to further delineate possible genetic influences, we investigated CNVs in individuals diagnosed with IED and/or personality disorder (PD). We carried out array comparative genomic hybridizati...
This study assessed the impact of the results of genetic testing for hereditary cancer from a multifactorial health psychology perspective, considering that emotional expression plays a key role in psychological adjustment. Measures of dispositional and transactional coping strategies, anxiety and alexithymia were filled out by 77 participants in a longitudinal study design. Statistical analyses were performed using general linear models and partial least squares path modelling, low-constraint methods that are particularly useful in the behavioural sciences. While anxiety levels prior to the result announcement were predictive of the distress experienced by noncarriers, considerable variability was observed for mutation carriers. Some subjects who had lower anxiety levels before the test d...
Timely detection of the pneumatic system problems is important in industry. Many techniques have been employed to solve this problem. In this paper, Genetic Algorithm (GA) based optimal configuration of neural networks is proposed for fault diagnostic of bottle filling systems. Back-propagation is used for neural networks algorithm. The back-propagation algorithm had six inputs and one output. A fitness function was designed to the minimize execution time of ANN model by keeping the number of hidden layer(s) and nodes as low as possible while the mean square error of estimated output error is minimized. The designed GA-ANN combination and the graphical user interface (GUI) eliminate the trial and error process for selection of the fastest and most accurate configuration. The performance of...
A new recurrent neural network power system stabilizer (RNNPSS) based on genetic algorithm (GA) was presented. It shows faster convergence than the linear quadratic regulator (LQR) stabilizer in a multi-machine power system, because the proposed GA based neural network was first trained off-line to determine the optimal values of the learning rates. Otherwise, the RNNPSS consists of just two layers. As such, the time consumption of the damping oscillations is lower than with conventional methods. In addition, the operating range of the RNNPSS is greater than that of the LQR and conventional three layer neural networks, since the RNNPSS can greatly reduce system complexity and effectively damp system oscillations. 9 refs., 7 figs.
Substantially genetically stable continuous human cell lines derived from normal human mammary epithelial cells (HMEC) and processes for making and using the same. In a preferred embodiment, the cell lines are derived by treating normal human mammary epithelial tissue with a chemical carcinogen such as benzo(a)pyrene. The novel cell lines serve as useful substrates for elucidating the potential effects of a number of toxins, carcinogens and mutagens as well as of the addition of exogenous genetic material. The autogenic parent cells from which the cell lines are derived serve as convenient control samples for testing. The cell lines are not neoplastically transformed, although they have acquired several properties which distinguish them from their normal progenitors. 2 tabs.
To test the hypothesis that transduction of the channelrhodopsin-2 (ChR2) gene, a microbial-type rhodopsin gene, into retinal ganglion cells of genetically blind rats will restore functional vision, we recorded visually evoked potentials and tested the experimental rats for the presence of optomotor responses. The N-terminal fragment of the ChR2 gene was fused to the fluorescent protein Venus and inserted into an adeno-associated virus to make AAV2-ChR2V. AAV2-ChR2V was injected intravitreally into the eyes of 6-month-old dystrophic RCS (rdy/rdy) rats. Visual function was evaluated six weeks after the injection by recording visually evoked potentials (VEPs) and testing optomotor responses. The expression of ChR2V in the retina was investigated histologically. We found that VEPs could not b...
Australia?s nationally consistent framework for gene technology regulation is underpinned by the Gene Technology Act 2000, administered by an independent decision-maker, the Gene Technology Regulator. The object of the Act is ?to protect the health and safety of people, and to protect the environment, by identifying risks posed by or as a result of gene technology, and by managing those risks through regulating certain dealings with genetically modified organisms?. Marketing and trade impacts are outside the scope of assessments required by the Act. Since 2001, seven licences have been issued for the commercial cultivation of genetically modified (GM) cotton with insect resistance and/or herbicide tolerance. Licences have also been issued for 32 GM cotton field trials with a broader range ...
The thermodynamics of the Sr-Si system is of fundamental importance for the understanding of eutectic modification of Al-Si alloys. At the same time, strontium silicides have recently been found to have potential applications in electronic devices. Renewed research efforts have led to a re-evaluation of the phase equilibria in this system, resulting in the discovery of previously undetected stable intermetallic compounds. In this work, we investigate the finite temperature thermodynamic properties of the stable (and metastable) Sr-Si intermetallics. The vibrational properties of the intermetallic compounds are calculated within harmonic theory, with quasi-harmonic corrections to account for the effects of thermal expansion. The total free energies of the compounds are computed considering vibrational and electronic contributions, as well as weak anharmonic corrections. The ground state of the system is predicted and compared to previous experimental and computational results. The ...
Abstract Many (K1-xNax)NbO3 (KNN)-based ceramics with high piezoelectric performance exhibit undesirable strong temperature dependence due to the orthorhombic-tetragonal polymorphic phase transition near room temperature. In order to improve the temperature stability of the ceramics, many additives have been added into the KNN-based ceramics to shift TO-T down to below room temperature. Contrary to the previous approach (Na0.53K0.47-xAgx)Nb1-xSbxO3 (NKANS) ceramics with TO-T well above room temperature have been prepared by a conventional solid-state reaction method. The density and the electrical properties are effectively improved by the addition of AgSbO3, and optimum piezoelectric properties are found in the ceramics with 0.05---x---0.07, with maximum kp---0.46 for NKANS5 and maximum d...
(1-x)(Na0.5K0.5)NbO3-xAgSbO3 lead-free piezoelectric ceramics were prepared by normal sintering. The effects of the AgSbO3 on the phase structure and piezoelectric properties of the ceramics were systematically studied. These results show that the AgSbO3-modified (K0.50Na0.50)NbO3 lead-free piezoelectric ceramics form stable solution with orthorhombic structure, and the Curie temperature and the polymorphic phase transition of the ceramics decreased with increasing AgSbO3. The result shows that the piezoelectric properties of the ceramics strongly depend on the AgSbO3. The ceramics with x=0.05 possess optimum properties (d33=192 pC/N, kp=43%, Tc=348degreeC, To-t=145degreeC, ?r632, and tan d3.5%). These results indicate that the ceramic is a promising candidate material for lead-free piezoe...
Populations of a common forage fish, red shiner Notropis lutrensis, were sampled from four localities on the Brazos River, Texas, affected by cold-water discharge from a hydroelectric dam and from unaltered sites in the same region. Polymorphism at the Mdh-B locus, encoding supernatant malate dehydrogenase, indicates that populations within 57 km of the dam are distinctive from other regional populations and possess a unique Mdh-B allele, have significantly higher levels of heterozygosity at the Mdh-B locus, represent a homogeneous set that have significantly different Mdh-B zygotic frequencies from other regional populations, and have significantly different Mdh-B zygotic proportions than would be expected under a Hardy-Weinberg equilibrium. Increased levels of heterozygosity in fish within 57 km of the dam were correlated with discharge-associated fluctuations in water temperature at sampling stations.
Fingerprinting of Penicillium crustosum strains was performed using different phenotypic characteristics. Seven strains of this extremely homogenous species were selected; of these, five originated from geographical locations characterized by low temperatures, and one from a location with a low water activity. Principal component analysis (PCA) was performed using micromorphological data, temperature- and water-dependent growth rates, and extrolite profiles obtained by HPLC analysis. The micromorphological data were less informative, while the growth-rate data were informative only if the strains investigated already showed slight adaptations to the selected external parameter. In contrast, PCA analyses of the extrolite data showed groupings of the strains according to their origins and known physiological differences. These groupings are in full agreement with the clustering obtained by previous amplified fragment length polymorphism (AFLP) study. We thus ...
Abstract The salts [Cnmim]2[Mo6Cl14] (mim = methylimidazolium; n = 4, 6, 12, 16, 18) have been obtained by reaction of CnmimCl with MoCl2. Thermal analysis shows the melting point decreases with increasing alkyl chain length of the cation. The imidazolium chloromolybdates(II) with n = 6-18 decompose above 340 C; [C18mim]2[Mo6Cl14] is thermally stable up to 390 C. All compounds are insensititve to the constituents of the atmosphere. Of the higher melting salts [Cnmim]2[Mo6Cl14] (n = 4, 6), high-quality single crystals could be obtained. Single-crystal X-ray structural analyses clearly show that the cluster complex anion [Mo6Cl14]2- has an electron-precise octahedral {Mo6} cluster. For [C4mim]2[Mo6Cl14], two polymorphs differing in the cation alkyl-side-chain conformation were obtained. The ...
Abstract Common single nucleotide polymorphisms (SNPs) in SMAD7 (18q21) have been linked to colorectal cancer (CRC) risk in genome-wide association studies, but little is known about their effects on survival. SMAD7 regulates gastrointestinal inflammation by inhibiting transforming growth factor- (TGFB), which can act as both a tumor suppressor and a promoter of metastasis. Regular use of cyclooxygenase-2 (COX2) inhibitors, such as nonsteroidal anti-inflammatory drugs (NSAIDs), reduces the risk of developing CRC. Because COX2 overexpression reduces the growth suppressing effects of TGFB, we hypothesized that survival may depend on both SMAD7 genotype and prediagnostic NSAID use. Postmenopausal women, ages 50-74, diagnosed with incident invasive CRC from 1997 to 2002 were identified using t...