Search results for "HAp"

showing 10 items of 2767 documents

Genetic differentiation in the striped dolphin Stenella coeruleoalba from European waters according to mitochondrial DNA (mtDNA) restriction analysis

1999

We used mitochondrial DNA (mtDNA) restriction analysis to study genetic variation in 98 striped dolphins (Stenella coeruleoalba) stranded on coasts from different European countries and from animals caught by fisheries. A total of 63 different restriction sites was mapped after digestion of mtDNA with 15 restriction endonucleases that yielded a total of 27 haplotypes. No haplotype was shared between Mediterranean and Atlantic areas. All the analyses indicate the existence of two different populations with a very limited gene flow across the Strait of Gibraltar.

Geneticseducation.field_of_studyMitochondrial DNADolphinsRestriction MappingPopulationGenetic VariationZoologyStenella coeruleoalbaBiologyDNA MitochondrialEuropeRestriction Site PolymorphismRestriction siteRestriction enzymeGenetics PopulationRestriction mapHaplotypesbiology.animalGenetic variationGeneticsAnimalseducationPhylogenyEcology Evolution Behavior and SystematicsMolecular Ecology
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Sampling and repeatability in the evaluation of hepatitis C virus genetic variability.

2003

Among the experimental techniques available to study the genetic variability of RNA virus populations, the most informative involve reverse transcription (RT), amplification, cloning and sequencing. The effects of several aspects of these techniques on the estimation of genetic variability in a virus population were analysed. Hepatitis C virus populations from four patients were examined. For each patient, ten series of data derived from independent PCR amplifications of a single RT reaction were obtained. The sample size of each data set was 10 sequences (in nine series) and 100 sequences (in one series). An additional data set derived from an independent RT reaction (about 10 sequences) p…

Geneticseducation.field_of_studyPhylogenetic treebiologyTranscription GeneticPopulationMolecular Sequence DataGenetic VariationRNA virusNucleic acid amplification techniqueRepeatabilityHepacivirusbiology.organism_classificationHaplotypesSample size determinationVirologyGenetic variationHumansGenetic variabilityeducationNucleic Acid Amplification TechniquesPhylogenyThe Journal of general virology
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Colonization of America by Drosophila subobscura: association between Odh gene haplotypes, lethal genes and chromosomal arrangements.

2004

The colonization of America by Drosophila subobscura has been a unique exper iment in nature that has allowed us to explore the effects of evolution on a continental scale. To analyze this evolutionary event, nucleotide sequences of the Odh (Octanol dehydrogenase) gene were obtained for 43 lethal chromosomal lines from colonizing populations of North America and 5 from South America, in addition to 5 chromosomal lines from Europe with different viabilities and 2 from laboratory marker stocks. Since 10 different Odh haplotypes were found in America, the minimum number of colonizers would be 5 (or 3 mated females). Only one Odh haplotype was found in American O(5) inversions confirming that o…

Geneticseducation.field_of_studyPopulationHaplotypeChromosomeGeneral MedicineBiologyDrosophila subobscuraChromosomesAlcohol OxidoreductasesHaplotypesGeneticsLethal alleleAnimalsColonizationOctanol dehydrogenaseDrosophilaGenes LethaleducationMolecular BiologyGeneGenesgenetic systems
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Study of eight novel Y-chromosome STRs in a sample from Valencia (East of Spain): analysis of gene and haplotypes frequencies

2003

Because of the great interest in Y-chromosome polymorphisms not only in the forensic field but also in evolutionary studies, the number of described Y-chromosome markers has been increased considerably in the recent literature. During the last few years, new Y-chromosome polymorphisms have been described, including binary polymorphisms, microsatellites and minisatellites. In this study, eight recently described tetranucleotide microsatellites have been analysed: DYS434, DYS437, DYS439, Y-GATA A7.1, Y-GATA A7.2, Y-GATA A.10, Y-GATA C4 and Y-GATA H4. Gene and haplotype frequencies have been estimated in the Valencian population, to determine highly informative haplotypes, using these new Y-ST…

Geneticseducation.field_of_studyPopulationHaplotypeGeneral MedicineY chromosomeValencianlanguage.human_languageGeographyMinisatellitelanguageMicrosatellitePopulation studyeducationGeneInternational Congress Series
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PrP Gene Polymorphism in Medieval Remains of Sicilian Sheep

2015

Encephalopathy in sheep was at first described in Ireland in 1732 and was called scrapie. Ancient DNA in archaeogenetics represents an effective method to evaluate the ancestral pedigree of living animals and track evolutionary changes occurred between the past and the present day. Since several point mutations are today widely described in modern scrapie, no data about both sequence and frequency are still available for the prion protein (PrP) gene in ancient breeds. In order to evaluate whether the haplotypes distribution in ancient sheep differed from those of the modern population we evaluated polymorphism at four well know codons of the Prp Open Reading Frame. In the present work, we c…

Geneticseducation.field_of_studyPopulationHaplotypeSingle-nucleotide polymorphismScrapieBiologySettore BIO/08 - AntropologiaGenetic analysisAncient DNAScrapie Prion Protein SNPs Ancient GenotypeGenotypeeducationGene
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Hsp90 dictates viral sequence space by balancing the evolutionary tradeoffs between protein stability, aggregation and translation rate

2017

AbstractAcquisition of mutations is central to evolution but the detrimental effects of most mutations on protein folding and stability limit protein evolvability. Molecular chaperones, which suppress aggregation and facilitate polypeptide folding, are proposed to promote sequence diversification by buffering destabilizing mutations. However, whether and how chaperones directly control protein evolution remains poorly understood. Here, we examine the effect of reducing the activity of the key eukaryotic chaperone Hsp90 on poliovirus evolution. Contrary to predictions of a buffering model, inhibiting Hsp90 increases population sequence diversity and promotes accumulation of mutations reducin…

Geneticseducation.field_of_studybiologyPopulationComputational biologyProtein aggregationHsp90EvolvabilityChaperone (protein)biology.proteinProtein foldingSynonymous substitutioneducationBiogenesis
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Y-chromosomal STR haplotypes in Sicily

2006

Eight Y-chromosomal short tandem repeats (STRs)-DYS19, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393 and DYS385 - were typed in a population sample (n = 255) of unrelated Sicilian males from nine different towns on the main island and from the island of Pantelleria. (c) 2005 Elsevier Ireland Ltd. All rights reserved.

GeneticshaplotypeChromosomes Human YPopulation sampleshort tandem repeatHaplotypePopulation geneticsY-chromosome; Short tandem repeats; Haplotype; SicilyBiologyY chromosomeDNA Fingerprintinglanguage.human_languageWhite PeoplePathology and Forensic MedicineGenetics PopulationShort tandem repeatsHaplotypesTandem Repeat SequenceslanguageMicrosatelliteHumansLawSicilianY-chromosomeSicily
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Role and importance of polymorphisms with respect to DNA methylation for the expression of CYP2E1 enzyme

2014

Different individuals possess slightly different genetic information and show genetically-determined differences in several enzyme activities due to genetic variability. Following an integrated approach, we studied the polymorphisms and methylation of sites contained in the 5' flanking region of the metabolizing enzyme CYP2E1 in correlation to its expression in both tumor and non-neoplastic liver cell lines, since to date little is known about the influence of these (epi)genetic elements in basal conditions and under induction by the specific inductor and a demethylating agent. In treated cells, reduced DNA methylation, assessed both at genomic and gene level, was not consistently associate…

Genotype5' Flanking RegionCell Survival5' flanking regionMinisatellite RepeatsBiologyGene Expression Regulation EnzymologicGenotypeGeneticsCYP2E1 gene polymorphismTumor Cells CulturedHumansGeneHepatocellular carcinoma cell lines; CYP2E1 gene polymorphisms; DNA methylation; 5-Azacytidine; Ethanol;GeneticsPolymorphism GeneticEthanolLiver cellHaplotype5-AzacytidineCytochrome P-450 CYP2E1General MedicineMethylationHep G2 CellsHepatocellular carcinoma cell lineDNA MethylationMolecular biologySettore BIO/18 - GeneticaDNA methylationAzacitidineRestriction fragment length polymorphismPolymorphism Restriction Fragment Length
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4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization

2014

Abstract Background Microscopically chromosome rearrangements of the short arm of chromosome 4 include the two known clinical entities: partial trisomy 4p and deletions of the Wolf-Hirschhorn critical regions 1 and 2 (WHSCR-1 and WHSCR-2, respectively), which cause cranio-facial anomalies, congenital malformations and developmental delay/intellectual disability. Methods/results We report on clinical findings detected in a Chinese patient with a de novo 4p16.1-p15.32 duplication in association with a subtle 4p terminal deletion of 6 Mb in size. This unusual chromosome imbalance resulted in WHS classical phenotype, while clinical manifestations of 4p trisomy were practically absent. Conclusio…

GenotypeArray-CGHDevelopmental DisabilitiesTrisomy 4pChromosome DisordersTrisomyAsian PeopleChinese childrenGene duplicationmedicineHumansWolf–Hirschhorn syndromeOligonucleotide Array Sequence AnalysisGeneticsWolf-Hirschhorn syndromeGenome Humanbusiness.industryChromosomeGeneral Medicinemedicine.diseasePhenotypePenetranceDuplication/deletion 4pPhenotypeChromosome 4Child PreschoolPediatrics Perinatology and Child HealthFemaleNeurology (clinical)Chromosome DeletionChromosomes Human Pair 4HaploinsufficiencybusinessTrisomyEuropean Journal of Paediatric Neurology
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Genome-wide scan for selection signatures reveals novel insights into the adaptive capacity in local North African cattle

2020

International audience; Natural-driven selection is supposed to have left detectable signatures on the genome of North African cattle which are often characterized by the fixation of genetic variants associated with traits under selection pressure and/or an outstanding genetic differentiation with other populations at particular loci. Here, we investigate the population genetic structure and we provide a first outline of potential selection signatures in North African cattle using single nucleotide polymorphism genotyping data. After comparing our data to African, European and indicine cattle populations, we identified 36 genomic regions using three extended haplotype homozygosity statistic…

GenotypeEvolutionMolecular biologyQuantitative Trait Locilcsh:MedicineBreedingNorth African cattle selection signatures candidate genePolymorphism Single NucleotideArticleSettore AGR/17 - Zootecnica Generale E Miglioramento GeneticoAfrica NorthernGene FrequencyGeneticsAnimalsSelection Geneticlcsh:ScienceWhole Genome Sequencinglcsh:RGenomicsAdaptation Physiological[SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal geneticsGenetics PopulationPhenotypeHaplotypeslcsh:QCattleGenome-Wide Association Study
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