Search results for "Genome"

showing 10 items of 1913 documents

Genome-wide diversity and runs of homozygosity in the “Braque Français, type Pyrénées” dog breed

2018

Objective Braque Français, type Pyrénées is a French hunting-dog breed whose origin is traced back to old pointing gun-dogs used to assist hunters in finding and retrieving game. This breed is popular in France, but seldom seen elsewhere. Despite the ancient background, the literature on its genetic characterization is surprisingly scarce. A recent study looked into the demography and inbreeding using pedigree records, but there is yet no report on the use of molecular markers in this breed. The aim of this work was to genotype a population of Braque Français, type Pyrénées dogs with the high-density SNP array to study the genomic diversity of the breed. Results The average observed (\docum…

0301 basic medicineMalelcsh:MedicineRuns of HomozygosityGenetic diversitySettore AGR/17 - Zootecnica Generale E Miglioramento Geneticotype PyrénéesSNPGenetic diversityMolecular markersInbreedingRuns of homozygosityHeterozygosityEffective population sizeDogInbreedingDogBraque Français type PyrénéesSNPGenetic diversityMolecular markersInbreedingRuns of homozygosityHeterozygositylcsh:QH301-705.5education.field_of_studyHeterozygosityGenomeHomozygote04 agricultural and veterinary sciencesGeneral Medicinetype PyrénéesBraque Français type PyrénéesBreedResearch NoteFemaleFranceInbreedingSNP arrayGenetic MarkersHeterozygotePopulationSNPBiologyRuns of homozygosityPolymorphism Single NucleotideGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesDogsAnimalsGenetic variabilityeducationlcsh:Science (General)Genetic diversityDogBraque Françaislcsh:R0402 animal and dairy sciencebraque françaisMolecular markersGenetic Variation040201 dairy & animal science030104 developmental biologylcsh:Biology (General)Evolutionary biologyDog Braque Français type Pyrénées SNP Genetic diversity Molecular markers Inbreeding Runs of homozygosity Heterozygositylcsh:Q1-390BMC Research Notes
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When Three Isn't a Crowd: A Digyny Concept for Treatment-Resistant, Near-Triploid Human Cancers.

2019

Near-triploid human tumors are frequently resistant to radio/chemotherapy through mechanisms that are unclear. We recently reported a tight association of male tumor triploidy with XXY karyotypes based on a meta-analysis of 15 tumor cohorts extracted from the Mitelman database. Here we provide a conceptual framework of the digyny-like origin of this karyotype based on the germline features of malignant tumors and adaptive capacity of digyny, which supports survival in adverse conditions. Studying how the recombinatorial reproduction via diploidy can be executed in primary cancer samples and HeLa cells after DNA damage, we report the first evidence that diploid and triploid cell sub-populati…

0301 basic medicineMalelcsh:QH426-470DNA repairKaryotypeSpindle ApparatusDigynyBiologyGenomeGermline03 medical and health sciencesnear-triploid cancer0302 clinical medicineMeiosisNeoplasmsGeneticsTumor Cells Culturedtumor blastomeresHumansGeneGenetics (clinical)GeneticsChromosomes Human XChromosomes Human YModels Geneticfungifood and beverageschemoresistancereprogrammingKaryotypeConcept Papertripolar mitosisTriploidyradioresistancelcsh:GeneticsMeiosis030104 developmental biologyGerm Cellspedogamy030220 oncology & carcinogenesisNeoplastic Stem Cellspolynuclear cancer cellsPloidyHeLa CellsdigynyGenes
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Differential Contribution of the Parental Genomes to a S. cerevisiae × S. uvarum Hybrid, Inferred by Phenomic, Genomic, and Transcriptomic Analyses, …

2020

In European regions of cold climate, S. uvarum can replace S. cerevisiae in wine fermentations performed at low temperatures. S. uvarum is a cryotolerant yeast that produces more glycerol, less acetic acid and exhibits a better aroma profile. However, this species exhibits a poor ethanol tolerance compared with S. cerevisiae. In the present study, we obtained by rare mating (non-GMO strategy), and a subsequent sporulation, an interspecific S. cerevisiae × S. uvarum spore-derivative hybrid that improves or maintains a combination of parental traits of interest for the wine industry, such as good fermentation performance, increased ethanol tolerance, and high glycerol and aroma productions. G…

0301 basic medicineMating typeHistologylcsh:BiotechnologySaccharomyces cerevisiaeBiomedical EngineeringBioengineeringLocus (genetics)Ethanol tolerance02 engineering and technologySaccharomyces cerevisiaeBiologyGenome sequencingGenome03 medical and health scienceslcsh:TP248.13-248.65Artificial hybridWine fermentationHybridFermentation in winemakingGeneticsfungifood and beverages021001 nanoscience & nanotechnologybiology.organism_classificationYeastethanol tolerancegenome sequencing030104 developmental biologyS. uvarumwine fermentationartificial hybridRNA-seqPloidy0210 nano-technologyBiotechnologyFrontiers in Bioengineering and Biotechnology
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Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure.

2021

AbstractLong and short sleep duration are associated with elevated blood pressure (BP), possibly through effects on molecular pathways that influence neuroendocrine and vascular systems. To gain new insights into the genetic basis of sleep-related BP variation, we performed genome-wide gene by short or long sleep duration interaction analyses on four BP traits (systolic BP, diastolic BP, mean arterial pressure, and pulse pressure) across five ancestry groups using 1 degree of freedom (1df) interaction and 2df joint tests. Primary multi-ancestry analyses in 62,969 individuals in stage 1 identified 3 novel loci that were replicated in an additional 59,296 individuals in stage 2, including rs7…

0301 basic medicineMean arterial pressureDiastoleBlood PressureBiology3121 Internal medicineGenomePolymorphism Single NucleotideElevated blood3124 Neurology and psychiatryArticleCellular and Molecular Neuroscience03 medical and health sciencesTRPC30302 clinical medicineSDG 3 - Good Health and Well-beingHumansMolecular BiologyGene030304 developmental biologyGenetics0303 health sciences[STAT.AP]Statistics [stat]/Applications [stat.AP]Short sleepSleep in non-human animalsPulse pressurePsychiatry and Mental health030104 developmental biologyBlood pressure[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsGenetic LociHypertension[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie3111 Biomedicine[INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM]Sleep[STAT.ME]Statistics [stat]/Methodology [stat.ME]030217 neurology & neurosurgeryGenome-Wide Association StudyMolecular psychiatry
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Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia

2016

Chronic lymphocytic leukemia (CLL) is a common lymphoid malignancy with strong heritability. To further understand the genetic susceptibility for CLL and identify common loci associated with risk, we conducted a meta-analysis of four genome-wide association studies (GWAS) composed of 3,100 cases and 7,667 controls with follow-up replication in 1,958 cases and 5,530 controls. Here we report three new loci at 3p24.1 (rs9880772, EOMES, P=2.55 × 10−11), 6p25.2 (rs73718779, SERPINB6, P=1.97 × 10−8) and 3q28 (rs9815073, LPP, P=3.62 × 10−8), as well as a new independent SNP at the known 2q13 locus (rs9308731, BCL2L11, P=1.00 × 10−11) in the combined analysis. We find suggestive evidence (P<5 × 10−…

0301 basic medicineMedicin och hälsovetenskapChronic lymphocytic leukemiaGeneral Physics and AstronomyGenome-wide association studyVARIANTSMedical and Health SciencesMalalties hereditàries[ SDV.MHEP.HEM ] Life Sciences [q-bio]/Human health and pathology/HematologyChronicGeneticsRISKLeukemiaMultidisciplinaryBANK1VDP::Medisinske Fag: 700::Helsefag: 800::Samfunnsmedisin sosialmedisin: 801Bcl-2-Like Protein 11QAdaptor Proteins[SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/HematologySingle NucleotideLymphocytic3. Good healthPRIORITIZATIONMultidisciplinary SciencesLeukemiamedicine.anatomical_structureScience & Technology - Other TopicsTRANSCRIPTION FACTOR EOMESODERMINGenetic disordersEXPRESSIONSUSCEPTIBILITY LOCIScienceEuropean Continental Ancestry GroupFAS GENE-MUTATIONSLocus (genetics)BiologyPolymorphism Single NucleotideGeneral Biochemistry Genetics and Molecular BiologyCLASSIFICATIONWhite PeopleArticle03 medical and health sciencesProto-Oncogene ProteinsMD MultidisciplinarymedicineGenetic predispositionSNPHumansLeucèmia limfocítica crònicaGenetic Predisposition to DiseasePolymorphismB cellSerpinsGenetic associationAdaptor Proteins Signal TransducingScience & TechnologySignal TransducingB-CellMembrane ProteinsGeneral Chemistrymedicine.diseaseLeukemia Lymphocytic Chronic B-Cell030104 developmental biologyChronic lymphocytic leukemiaVDP::Medical disciplines: 700::Health sciences: 800::Community medicine Social medicine: 801Apoptosis Regulatory ProteinsT-Box Domain ProteinsFOLLICULAR LYMPHOMAGenome-Wide Association Study
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The spread of steppe and Iranian-related ancestry in the islands of the western Mediterranean

2020

Steppe-pastoralist-related ancestry reached Central Europe by at least 2500 bc, whereas Iranian farmer-related ancestry was present in Aegean Europe by at least 1900 bc. However, the spread of these ancestries into the western Mediterranean, where they have contributed to many populations that live today, remains poorly understood. Here, we generated genome-wide ancient-DNA data from the Balearic Islands, Sicily and Sardinia, increasing the number of individuals with reported data from 5 to 66. The oldest individual from the Balearic Islands (~2400 bc) carried ancestry from steppe pastoralists that probably derived from west-to-east migration from Iberia, although two later Balearic individ…

0301 basic medicineMediterranean climateSteppePastoralismPopulation geneticsgovernment.political_districtSettore BIO/08 - AntropologiaIranancient-DNA western mediterranean islands populationaDNA Human Ancient migrations Western Mediterranean Basin Steppe pastoralists Anthropology03 medical and health sciences0302 clinical medicineBronze AgeHumansDNA AncientSicilyEcology Evolution Behavior and SystematicsIslandsBalearic islandsgeography.geographical_feature_categoryEcologyAfrica; anthropology; emigration and immigration; Europe; humans; Iran; islands; Sicily; Spain; agriculture; DNA ancient; genome-wide association studyancientAgricultureDNAChalcolithicEmigration and Immigrationwestern mediterranean islands populationhumanitiesEuropeAncient DNA ; steppe ancestry ; western Mediterranean030104 developmental biologyAncient DNAGeographySpainAnthropologyAfricagovernmentancient-DNAEthnology030217 neurology & neurosurgeryGenome-Wide Association Study
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Advances in Integrating Traditional and Omic Biomarkers When Analyzing the Effects of the Mediterranean Diet Intervention in Cardiovascular Prevention

2016

Intervention with Mediterranean diet (MedDiet) has provided a high level of evidence in primary prevention of cardiovascular events. Besides enhancing protection from classical risk factors, an improvement has also been described in a number of non-classical ones. Benefits have been reported on biomarkers of oxidation, inflammation, cellular adhesion, adipokine production, and pro-thrombotic state. Although the benefits of the MedDiet have been attributed to its richness in antioxidants, the mechanisms by which it exercises its beneficial effects are not well known. It is thought that the integration of omics including genomics, transcriptomics, epigenomics, and metabolomics, into studies a…

0301 basic medicineMediterranean dietGene-diet interactionsAdipokineOmicsGenomicsReview030204 cardiovascular system & hematologyBiologyBioinformaticsDiet MediterraneanCardiovascularCatalysislcsh:ChemistryInorganic Chemistry03 medical and health sciences0302 clinical medicineMetabolomics:Ciencias de la Salud::Medicina preventiva [Materias Investigacion]Mediterranean dietMetabolomeAnimalsHumansPhysical and Theoretical Chemistrylcsh:QH301-705.5Molecular BiologyDieta -- Mediterrània Regió de laSpectroscopyEpigenomicsGenomecardiovascularOrganic ChemistrybiomarkersGeneral MedicineEvidence-based medicineOmicsgene-diet interactionsComputer Science ApplicationsomicsSistema cardiovascular -- Malalties -- Prevenció030104 developmental biologylcsh:Biology (General)lcsh:QD1-999Cardiovascular DiseasesMarcadors bioquímicsMetabolomeBiomarkers
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Respiratory Tularemia: Francisella Tularensis and Microarray Probe Designing

2016

Background:Francisella tularensis(F. tularensis) is the etiological microorganism for tularemia. There are different forms of tularemia such as respiratory tularemia. Respiratory tularemia is the most severe form of tularemia with a high rate of mortality; if not treated. Therefore, traditional microbiological tools and Polymerase Chain Reaction (PCR) are not useful for a rapid, reliable, accurate, sensitive and specific diagnosis. But, DNA microarray technology does. DNA microarray technology needs to appropriate microarray probe designing.Objective:The main goal of this original article was to design suitable long oligo microarray probes for detection and identification ofF. tularensis.Me…

0301 basic medicineMicroarrayBioinformaticsIn silico030106 microbiologyComputational biologyBiologyGenomeArticlelaw.inventionTularemia03 medical and health scienceslawmedicineOligo microarrayFrancisella tularensisTularemiaPolymerase chain reactionFrancisella tularensisProbe designingGeneral Immunology and MicrobiologyDNA microarraymedicine.diseasebiology.organism_classificationDry labDNA microarrayThe Open Microbiology Journal
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Experimental conditions improving in-solution target enrichment for ancient DNA.

2016

High-throughput sequencing has dramatically fostered ancient DNA research in recent years. Shotgun sequencing, however, does not necessarily appear as the best-suited approach due to the extensive contamination of samples with exogenous environmental microbial DNA. DNA capture-enrichment methods represent cost-effective alternatives that increase the sequencing focus on the endogenous fraction, whether it is from mitochondrial or nuclear genomes, or parts thereof. Here, we explored experimental parameters that could impact the efficacy of MYbaits in-solution capture assays of ~5000 nuclear loci or the whole genome. We found that varying quantities of the starting probes had only moderate ef…

0301 basic medicineMicrobial DNAComputational biologyBiologyGenome03 medical and health scienceschemistry.chemical_compoundSequencing by hybridizationGeneticsDNA AncientEcology Evolution Behavior and SystematicsGeneticsBase CompositionShotgun sequencingHigh-Throughput Nucleotide SequencingNucleic Acid HybridizationSequence Analysis DNA030104 developmental biologyAncient DNAchemistryCpG siteCpG IslandsDNA ProbesGC-contentDNABiotechnologyMolecular ecology resources
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Origin of modern syphilis and emergence of a pandemic Treponema pallidum cluster

2016

The abrupt onslaught of the syphilis pandemic that started in the late fifteenth century established this devastating infectious disease as one of the most feared in human history1 . Surprisingly, despite the availability of effective antibiotic treatment since the mid-twentieth century, this bacterial infection, which is caused by Treponema pallidum subsp. pallidum (TPA), has been re-emerging globally in the last few decades with an estimated 10.6 million cases in 2008 (ref. 2). Although resistance to penicillin has not yet been identified, an increasing number of strains fail to respond to the secondline antibiotic azithromycin3. Little is known about the genetic patterns in current infec…

0301 basic medicineMicrobiologia340 LawCiencias de la SaludAzithromycinGlobal HealthBacterisApplied Microbiology and Biotechnology2726 Microbiology (medical)1307 Cell BiologyGenotypePandemicPhylogenyMolecular EpidemiologyTreponemaPhylogenetic treebiology2404 Microbiology10177 Dermatology ClinicTREPONEMA PALLIDUM10218 Institute of Legal MedicineAnti-Bacterial Agents3. Good health590 Animals (Zoology)//purl.org/becyt/ford/3 [https]ORIGIN OF SYPHILISMalalties de transmissió sexualDNA BacterialMicrobiology (medical)CIENCIAS MÉDICAS Y DE LA SALUDGenotypeImmunology610 Medicine & healthMicrobiologyEvolution Molecular//purl.org/becyt/ford/3.3 [https]10127 Institute of Evolutionary Biology and Environmental Studies03 medical and health sciences1311 GeneticsPhylogeneticsDrug Resistance BacterialGeneticsmedicine2402 Applied Microbiology and BiotechnologyHumansSyphilisTreponema pallidumPandemics2403 ImmunologyMolecular epidemiologyGenetic VariationSequence Analysis DNACell Biologymedicine.diseasebiology.organism_classificationVirologyEnfermedades Infecciosas030104 developmental biologyInfectious disease (medical specialty)570 Life sciences; biologySyphilisGenome Bacterial
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