Search results for "Genetic loci"

showing 6 items of 106 documents

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

2013

Journal article TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ~480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10!-7), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10!-8) and BRCA1 mutation carrier (P = 1.1 × 10!-5) breast cancers and altered promot…

TelomeraseMessengerCàncer d'ovariEstrogen receptorAetiology screening and detection [ONCOL 5]0302 clinical medicineBreast cancerRisk FactorsAlternative Splicing; Biomarkers Tumor; Breast Neoplasms; Case-Control Studies; Chromatin; DNA Methylation; Female; Gene Expression Profiling; Genetic Loci; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Humans; Luciferases; Oligonucleotide Array Sequence Analysis; Ovarian Neoplasms; Polymorphism Single Nucleotide; RNA Messenger; Real-Time Polymerase Chain Reaction; Reverse Transcriptase Polymerase Chain Reaction; Risk Factors; Telomerase; Telomere; GeneticsGenotypeBUCCAL CELLSLuciferasesTelomeraseOligonucleotide Array Sequence AnalysisOvarian Neoplasms0303 health sciencesTumorTelòmerReverse Transcriptase Polymerase Chain ReactionGENETIC-VARIATIONCOMMON VARIANTSSingle Nucleotidetert-clptm1l locus; genome-wide association; genetic-variation; susceptibility loci; buccal cells; fibroblasts; common variants; carcinoma; reverse-transcriptase htert; metaanalysisTelomereAetiology screening and detection Immune Regulation [ONCOL 5]Chromatin3. Good healthTumor Markers Biological030220 oncology & carcinogenesisFemaleFIBROBLASTSGenotypeSUSCEPTIBILITY LOCICARCINOMASingle-nucleotide polymorphismBreast NeoplasmsBiologyReal-Time Polymerase Chain ReactionPolymorphism Single NucleotideArticleCàncer de mama03 medical and health sciencesBreast cancerSDG 3 - Good Health and Well-beingTranslational research [ONCOL 3]Ovarian cancermedicineGeneticsBiomarkers TumorHumansGenetic Predisposition to DiseaseRNA MessengerPolymorphismAlleleGENOME-WIDE ASSOCIATIONMETAANALYSIS030304 developmental biologyMolecular epidemiology Aetiology screening and detection [NCEBP 1]Breast cancer susceptibilityHereditary cancer and cancer-related syndromes [ONCOL 1]Translational research Genomic disorders and inherited multi-system disorders [ONCOL 3]Gene Expression ProfilingDNA Methylationmedicine.diseaseMolecular biologyTERT-CLPTM1L LOCUSTelomereMinor allele frequencyAlternative SplicingGenetic LociCase-Control StudiesRNABiomarkersREVERSE-TRANSCRIPTASE HTERTGenome-Wide Association StudyNature genetics
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piRNAclusterDB 2.0: update and expansion of the piRNA cluster database.

2021

Abstract PIWI-interacting RNAs (piRNAs) and their partnering PIWI proteins defend the animal germline against transposable elements and play a crucial role in fertility. Numerous studies in the past have uncovered many additional functions of the piRNA pathway, including gene regulation, anti-viral defense, and somatic transposon repression. Further, comparative analyses across phylogenetic groups showed that the PIWI/piRNA system evolves rapidly and exhibits great evolutionary plasticity. However, the presence of so-called piRNA clusters as the major source of piRNAs is common to nearly all metazoan species. These genomic piRNA-producing loci are highly divergent across taxa and critically…

Transposable elementSmall RNAendocrine systemAcademicSubjects/SCI00010Sequencing dataPiwi-interacting RNADatasets as TopicBiologycomputer.software_genreGermlineEvolution Molecular03 medical and health sciences0302 clinical medicineDatabases GeneticGeneticsAnimalsCluster AnalysisHumansDatabase IssueRNA Small InterferingPhylogeny030304 developmental biologyRegulation of gene expression0303 health sciencesInternetGenomePhylogenetic treeDatabaseurogenital systemGenetic LociArgonaute ProteinsDNA Transposable Elementscomputer030217 neurology & neurosurgerySoftwareNucleic acids research
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Population Structure and Comparative Genome Hybridization of European Flor Yeast Reveal a Unique Group of Saccharomyces cerevisiae Strains with Few G…

2014

Wine biological aging is a wine making process used to produce specific beverages in several countries in Europe, including Spain, Italy, France, and Hungary. This process involves the formation of a velum at the surface of the wine. Here, we present the first large scale comparison of all European flor strains involved in this process. We inferred the population structure of these European flor strains from their microsatellite genotype diversity and analyzed their ploidy. We show that almost all of these flor strains belong to the same cluster and are diploid, except for a few Spanish strains. Comparison of the array hybridization profile of six flor strains originating from these four co…

[SDV.SA]Life Sciences [q-bio]/Agricultural scienceslcsh:MedicineArray CGHespagneyeastbrewer sGenomeComputational biologyPloidymicrobial floraGene DuplicationGenotypevinCluster Analysissaccharomyces cerevisiaelcsh:SciencePhylogenySequence DeletionGenetics0303 health sciencesComparative Genomic HybridizationMultidisciplinaryVegetal BiologyMembrane GlycoproteinsEcologyAlcoholic BeveragesMicrobial GeneticshongrieGenomicsBiodiversityAgricultural sciencesoenologieMicrosatellitePloidyGenome FungalgénotypefranceResearch ArticleSaccharomyces cerevisiae ProteinsMolecular Sequence DataFlorflore microbiennevieillissement vinBiologyMicrobiologyMicrobial EcologyBeverages03 medical and health sciencesSaccharomycesGenetic variationGenetics[SDV.BV]Life Sciences [q-bio]/Vegetal BiologyAmino Acid Sequencewinemicrobiologie030304 developmental biologyNutritionComparative genomicsWineEvolutionary BiologyBase SequenceBiology and life sciences030306 microbiologylcsh:ROrganismsFungiGenetic VariationGenome analysisDietitalieGenetic LociBiofilmsGenetic Polymorphismlcsh:QSequence AlignmentSciences agricolesBiologie végétalePopulation GeneticsMicrosatellite Repeats
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Extensive nuclear gyration and pervasive non-genic transcription during primordial germ cell development in zebrafish.

2020

ABSTRACT Primordial germ cells (PGCs) are the precursors of germ cells, which migrate to the genital ridge during early development. Relatively little is known about PGCs after their migration. We studied this post-migratory stage using microscopy and sequencing techniques, and found that many PGC-specific genes, including genes known to induce PGC fate in the mouse, are only activated several days after migration. At this same time point, PGC nuclei become extremely gyrated, displaying general broad opening of chromatin and high levels of intergenic transcription. This is accompanied by changes in nuage morphology, expression of large loci (PGC-expressed non-coding RNA loci, PERLs) that ar…

endocrine systemRNA UntranslatedTranscription GeneticZygotePiwi-interacting RNApiRNABiology03 medical and health sciences0302 clinical medicineGyrationTranscription (biology)Primordial germ cellmedicineAnimalsRNA Small InterferingMolecular BiologyZebrafishGeneZebrafish030304 developmental biologyCell NucleusNuage0303 health sciencesGonadal ridgeurogenital systemNuclear morphologyGene Expression Regulation DevelopmentalDNA-Directed RNA PolymerasesZygotic activationZebrafish Proteinsbiology.organism_classificationChromatinCell biologyUp-Regulationmedicine.anatomical_structureGerm CellsGenetic Loci207FertilizationMutationIntergenic transcriptionDNA Transposable ElementsDNA Intergenic030217 neurology & neurosurgeryGerm cellBiogenesisDevelopmental BiologyResearch ArticleDevelopment (Cambridge, England)
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Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

2013

The author manuscript of this article is open access and is freely available online at PubMed Central

medicine.medical_specialtyKeratoconusCorneal Pachymetrygenetic structuresthickness; keratoconus; geneGlaucomaOcular hypertensionGenome-wide association studyBiologyReal-Time Polymerase Chain ReactionKeratoconusWhite PeopleArticleCentral corneal thicknessCorneaAsian PeopleOphthalmologyCorneaOdds RatioGeneticsmedicineHumansCorneal pachymetrymedicine.diagnostic_testForkhead Box Protein O1Forkhead Transcription FactorsGlaucomaOdds ratioMicroarray Analysismedicine.diseaseConfidence intervaleye diseasesFibronectinsmedicine.anatomical_structureGenetic Locisense organsGenome-Wide Association Study
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Large-scale genotyping identifies 41 new loci associated with breast cancer risk

2013

Journal article Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ~9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborat…

signaling pathwayGenotypingGenotypeSingle-nucleotide polymorphismGenome-wide association studyBreast NeoplasmsconsortiumBiologyBreast Neoplasms; Case-Control Studies; Cooperative Behavior; Female; Gene-Environment Interaction; Genetic Loci; Genome-Wide Association Study; Genotype; Humans; Meta-Analysis as Topic; Polymorphism Single Nucleotide; Risk Factors; Genetic Predisposition to Disease; GeneticsPolymorphism Single NucleotideArticle03 medical and health sciences0302 clinical medicineBreast cancerSDG 3 - Good Health and Well-beingMeta-Analysis as TopicRisk FactorsGenotypecommon variantsexpressionGeneticsmedicineHumansGenetic Predisposition to DiseasePolymorphismCooperative BehaviorgeneGenotypinghormone-related protein030304 developmental biologyGenetic associationGenetics0303 health sciencesBreast cancer susceptibilityCancerSingle Nucleotidemedicine.diseaseconfer susceptibilitysusceptibility loci3. Good health14q24.1 rad51l1TOX3Genetic Loci030220 oncology & carcinogenesisCase-Control Studiesgenome-wide associationFemaleGene-Environment InteractionGenome-Wide Association Study
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