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showing 10 items of 4920 documents

Runs of homozygosity reveal genome-wide autozygosity in Italian sheep breeds

2018

The availability of dense single nucleotide polymorphism (SNP) assays allows for the determination of autozygous segments based on runs of consecutive homozygous genotypes (ROH). The aim of the present study was to investigate the occurrence and distribution of ROH in 21 Italian sheep breeds using medium-density SNP genotypes in order to characterize autozygosity and identify genomic regions that frequently appeared in ROH within individuals, namely ROH islands. After filtering, the final number of animals and SNPs retained for analyses were 502 and 46 277 respectively. A total of 12 302 ROH were identified. The mean number of ROH per breed ranged from 10.58 (Comisana) to 44.54 (Valle del B…

0301 basic medicineCandidate geneRuns of homozygosity islandCandidate geneSingle-nucleotide polymorphismRuns of HomozygosityBiologyBarbarescaPolymorphism Single Nucleotidesheep breeds03 medical and health sciencessingle nucleotide polymorphismGenotypeGeneticsAnimalsSNPSheep breedGeneticsSheepgenomic inbreedingHomozygotecandidate genes; genomic inbreeding; runs of homozygosity islands; sheep breeds; single nucleotide polymorphism; Animal Science and Zoology; GeneticsGeneral MedicineCandidate genes; Genomic inbreeding; Runs of homozygosity islands; Sheep breeds; Single nucleotide polymorphism; Animal Science and Zoology; Geneticsbiology.organism_classificationBreedruns of homozygosity islandsGenetics Population030104 developmental biologyItalyAnimal Science and Zoologycandidate genesInbreedingAnimal Genetics
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Novel and known signals of selection for fat deposition in domestic sheep breeds from Africa and Eurasia

2018

International audience; Genomic regions subjected to selection frequently show signatures such as within-population reduced nucleotide diversity and outlier values of differentiation among differentially selected populations. In this study, we analyzed 50K SNP genotype data of 373 animals belonging to 23 sheep breeds of different geographic origins using the Rsb (extended haplotype homozygosity) and FST statistical approaches, to identify loci associated with the fat-tail phenotype. We also checked if these putative selection signatures overlapped with regions of high-homozygosity (ROH). The analyses identified novel signals and confirmed the presence of selection signature in genomic regio…

0301 basic medicineCandidate geneTopographyEuropean PeopleHeredity[SDV]Life Sciences [q-bio]Social SciencesGenome-wide association studyBreedingBiochemistryHomozygosityNucleotide diversityFatsSettore AGR/17 - Zootecnica Generale E Miglioramento GeneticoCell SignalingGenotypePsychologyEthnicitiesBody Fat Distribution2. Zero hungerMammalsIslandssheep fat tail SNP selection sigantures candidate genesMultidisciplinaryAnimal BehaviorQHomozygoteREukaryotaSingle Nucleotide04 agricultural and veterinary sciencesRuminantsPhenotypeLipidsBreedItalian PeopleAfrica; Animals; Asia; Genome-Wide Association Study; Genotype; Homozygote; Phenotype; Polymorphism Single Nucleotide; Sheep; Body Fat Distribution; Breeding; Selection GeneticPhenotypeVertebratesMedicineGenomic Signal ProcessingResearch ArticleSignal TransductionAsiaGenotypeScienceSingle-nucleotide polymorphismGenomicsQuantitative trait locusBiologyAnimal Sexual BehaviorPolymorphism Single NucleotideMolecular Genetics03 medical and health sciencesGeneticGeneticsSNPAnimalsPolymorphismSelection GeneticSelectionMolecular BiologySelection (genetic algorithm)BehaviorLandformsSheep0402 animal and dairy scienceOrganismsBiology and Life SciencesGeomorphologyCell Biology040201 dairy & animal science030104 developmental biologyEvolutionary biologyAmniotesPeople and PlacesAfricaEarth SciencesPopulation GroupingsZoologyGenome-Wide Association Study
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Comparison of Migratory and Resident Populations of Brown Trout Reveals Candidate Genes for Migration Tendency

2018

Abstract Candidate genes associated with migration have been identified in multiple taxa: including salmonids, many of whom perform migrations requiring a series of physiological changes associated with the freshwater–saltwater transition. We screened over 5,500 SNPs for signatures of selection related to migratory behavior of brown trout Salmo trutta by focusing on ten differentially migrating freshwater populations from two watersheds (the Koutajoki and the Oulujoki). We found eight outlier SNPs potentially associated with migratory versus resident life history using multiple (≥3) outlier detection approaches. Comparison of three migratory versus resident population pairs in the Koutajoki…

0301 basic medicineCandidate geneTroutPopulationlife-history strategyFresh WaterSingle-nucleotide polymorphismPolymorphism Single NucleotideLife history theoryEvolution Molecular03 medical and health sciencesBrown troutsmoltificationOsmoregulationtaimenbrown troutpopulaatiotsalmonidsGeneticsAnimalsSeawatermigration tendency14. Life underwaterSalmoeducationgenesEcology Evolution Behavior and SystematicsSmoltificationmigratory populationseducation.field_of_studyvaelluskalatgeenitbiologyta1184RADseqbiology.organism_classificationTrout030104 developmental biologyEvolutionary biologypopulaatiogenetiikkata1181Animal Migrationmigratory behaviorresident populationsSalmonidaeResearch ArticleGenome Biology and Evolution
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Genome-wide association mapping for milk fat composition and fine mapping of a QTL for de novo synthesis of milk fatty acids on bovine chromosome 13

2017

Background Bovine milk is widely regarded as a nutritious food source for humans, although the effects of individual fatty acids on human health is a subject of debate. Based on the assumption that genomic selection offers potential to improve milk fat composition, there is strong interest to understand more about the genetic factors that influence the biosynthesis of bovine milk and the molecular mechanisms that regulate milk fat synthesis and secretion. For this reason, the work reported here aimed at identifying genetic variants that affect milk fatty acid composition in Norwegian Red cattle. Milk fatty acid composition was predicted from the nation-wide recording scheme using Fourier tr…

0301 basic medicineCandidate gene[SDV]Life Sciences [q-bio]Quantitative Trait LociGenome-wide association studySingle-nucleotide polymorphismBiologyQuantitative trait locusChromosomes03 medical and health sciencesGeneticsAnimalsGenetics(clinical)GeneEcology Evolution Behavior and Systematics2. Zero hungerGeneticschemistry.chemical_classificationHaplotypeFatty Acids0402 animal and dairy scienceFatty acidChromosomeChromosome Mapping04 agricultural and veterinary sciencesGeneral Medicine040201 dairy & animal science030104 developmental biologyMilkchemistryAnimal Science and ZoologyCattleFemaleGenome-Wide Association StudyResearch Article
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Fine mapping of a QTL on bovine chromosome 6 using imputed full sequence data suggests a key role for the group-specific component (GC) gene in clini…

2016

Background Clinical mastitis is an inflammation of the mammary gland and causes significant costs to dairy production. It is unfavourably genetically correlated to milk production, and, thus, knowledge of the mechanisms that underlie these traits would be valuable to improve both of them simultaneously through breeding. A quantitative trait locus (QTL) that affects both clinical mastitis and milk production has recently been fine-mapped to around 89 Mb on bovine chromosome 6 (BTA6), but identification of the gene that underlies this QTL was not possible due to the strong linkage disequilibrium between single nucleotide polymorphisms (SNPs) within this region. Our aim was to identify the gen…

0301 basic medicineCandidate gene[SDV]Life Sciences [q-bio]Quantitative Trait LociSingle-nucleotide polymorphismBiologyQuantitative trait locusPolymorphism Single NucleotideLinkage Disequilibrium03 medical and health sciencesMammary Glands AnimalFamily-based QTL mappingGene FrequencyGene duplicationGeneticsAnimalsLactationGenetics(clinical)AlleleGeneMastitis BovineAllelesEcology Evolution Behavior and SystematicsGenetic association2. Zero hungerGeneticsVitamin D-Binding ProteinChromosome MappingGeneral MedicineSequence Analysis DNA030104 developmental biologyMilkHaplotypesCattleFemaleAnimal Science and ZoologyResearch Article
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Genome-wide assessment of diversity and differentiation between original and modern Brown cattle populations

2020

Identifying genomic regions involved in the differences between breeds can provide information on genes that are under the influence of both artificial and natural selection. The aim of this study was to assess the genetic diversity and differentiation among four different Brown cattle populations (two original vs. two modern populations) and to characterize the distribution of runs of homozygosity (ROH) islands using the Illumina Bovine SNP50 BeadChip genotyping data. After quality control, 34 735 SNPs and 106 animals were retained for the analyses. Larger heterogeneity was highlighted for the original populations. Patterns of genetic differentiation, multidimensional scaling, and the neig…

0301 basic medicineCandidate genecandidate genes FST genetic diversity runs of homozygosityGenotypeBiologyRuns of HomozygosityQuantitative trait locusBreedingGenomePolymorphism Single Nucleotide03 medical and health sciencesGeneticsAnimalsGenotypingGenetic diversityruns of homozygosityNatural selectionF-STHomozygote0402 animal and dairy science04 agricultural and veterinary sciencesGeneral Medicinegenetic diversity040201 dairy & animal science030104 developmental biologyGenetics PopulationPhenotypecandidate genes; F-ST; genetic diversity; runs of homozygosityEvolutionary biologyAnimal Science and ZoologyCattleBrown Swisscandidate genes
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Genome-wide association studies for milk production traits in Valle del Belice sheep using repeated measures

2019

Genome-wide association studies (GWASes) have become a powerful tool for identifying genomic regions associated with important traits in livestock. Milk production traits in dairy sheep are measured at different time points during their life span. Using phenotypic data generated from longitudinal traits could improve the power of association studies but until now have received less attention in GWASes as a methodology and has not been implemented. The aim of this study was to carry out a GWAS for milk production traits in Valle del Belice sheep using repeated measures. After quality control, 469 ewes and 37 228 SNPs were retained for the analysis, and phenotypic data included 5586 test-day …

0301 basic medicineCandidate genes longitudinal traits single nucleotide polymorphismsSingle-nucleotide polymorphismGenome-wide association studyBiologyPolymorphism Single NucleotideCandidate genes03 medical and health sciencessingle nucleotide polymorphismslongitudinal traitSettore AGR/17 - Zootecnica Generale E Miglioramento GeneticoAnimal sciencesingle nucleotide polymorphismGeneticsAnimalsGeneSheep DomesticGenetic associationbusiness.industry0402 animal and dairy scienceRepeated measures designcandidate gene04 agricultural and veterinary sciencesGeneral MedicineMilk production040201 dairy & animal sciencePhenotypeMilk030104 developmental biologyFemaleLivestockAnimal Science and Zoologybusinesslongitudinal traitsGenome-Wide Association Study
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Whole-genome sequencing of Neisseria gonorrhoeae in a forensic transmission case.

2019

Abstract Molecular epidemiology and phylogenetic analyses are frequently used in the investigation of viral transmission cases in forensic contexts. Here, we present the methods and results of the analysis of a bacterial transmission episode in an alleged child abuse case using complete genome sequences obtained by high-throughput sequencing (HTS) methods. We obtained genomes of Neisseria gonorrhoeae from the victim, the suspect, and 29 unrelated controls. The analysis of the genomes revealed that the victim and suspect isolates had identical sequences in both the bacterial chromosome and the single plasmid present in them. One of the local controls was very similar (differing in only 2 SNP…

0301 basic medicineChild abuseMaleBacterial genome sizeBiologyGenomePolymerase Chain ReactionPolymorphism Single NucleotideDNA sequencingPathology and Forensic Medicine03 medical and health sciencesGonorrhea0302 clinical medicineGeneticsHumans030216 legal & forensic medicineTypingChildGeneticsWhole genome sequencingLikelihood FunctionsMolecular epidemiologyWhole Genome SequencingHigh-Throughput Nucleotide SequencingChild Abuse SexualSequence Analysis DNANeisseria gonorrhoeaeElectrophoresis Gel Pulsed-Field030104 developmental biologyVaginaMultilocus sequence typingFemaleMultilocus Sequence TypingForensic science international. Genetics
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Reanalysis of Chinese Treponema pallidum samples: all Chinese samples cluster with SS14-like group of syphilis-causing treponemes

2018

[Objective]: Treponema pallidum subsp. pallidum (TPA) is the causative agent of syphilis. Genetic analyses of TPA reference strains and human clinical isolates have revealed two genetically distinct groups of syphilis-causing treponemes, called Nichols-like and SS14-like groups. So far, no genetic intermediates, i.e. strains containing a mixed pattern of Nichols-like and SS14-like genomic sequences, have been identifed. Recently, Sun et al. (Oncotarget 2016. https://doi. org/10.18632/oncotarget.10154) described a new “phylogenetic group” (called Lineage 2) among Chinese TPA strains. This lineage exhibited a “mosaic genomic structure” of Nichols-like and SS14-like lineages.

0301 basic medicineChinaLineage (genetic)Sequencing datalcsh:MedicineGenome sequencingPolymorphism Single NucleotideGeneral Biochemistry Genetics and Molecular BiologyDNA sequencing03 medical and health sciencesmedicineHumansTreponema pallidumSyphilislcsh:Science (General)lcsh:QH301-705.5GenePhylogenyGeneticsTreponemaPhylogenetic analysisbiologyPhylogenetic treeintegumentary systemlcsh:RGeneral MedicineSequence Analysis DNAbiology.organism_classificationmedicine.disease3. Good healthSingle nucleotide variantResearch Note030104 developmental biologylcsh:Biology (General)SyphilisMixed patternGenome Bacteriallcsh:Q1-390BMC Research Notes
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Evolution of Ciona intestinalis Tumor necrosis factor alpha ( Ci TNFα): Polymorphism, tissues expression, and 3D modeling

2017

Although the Tumor necrosis factor gene superfamily seems to be very conserved in vertebrates, phylogeny, tissue expression, genomic and gene organization, protein domains and polymorphism analyses showed that a strong change has happened mostly in invertebrates in which protochordates were a constraint during the immune-molecules history and evolution. RT PCR was used to investigate differential gene expression in different tissues. The expression shown was greater in the pharynx. Single-nucleotide polymorphism has been investigated in Ciona intestinalis Tumor necrosis factor alpha (CiTNFα) mRNA isolated from the pharynx of 30 ascidians collected from Licata, Sicily (Italy), by denaturing …

0301 basic medicineCiona intestinaliIn silicoImmunologyProtein domainTNFSettore BIO/05 - ZoologiaPolymorphism Single NucleotideCiona intestinalis; DGGE; Gene expression; Polymorphism; TNF03 medical and health sciencesNegative selection0302 clinical medicineGene expressionAnimalsComputer SimulationCiona intestinalisRNA MessengerCloning MolecularSelection GeneticDGGEPolymorphismGeneCells CulturedPhylogenyGeneticsGenomebiologyTumor Necrosis Factor-alphaGene Expression ProfilingNucleic acid sequencebiology.organism_classificationBiological EvolutionMolecular biologyCiona intestinalis030104 developmental biologyPharynxGene expressionSequence Alignment030217 neurology & neurosurgeryTemperature gradient gel electrophoresisDevelopmental BiologyDevelopmental & Comparative Immunology
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