Search results for "Heterozygote"

showing 10 items of 240 documents

Three chromosomal rearrangements promote genomic divergence between migratory and stationary ecotypes of Atlantic cod

2016

AbstractIdentification of genome-wide patterns of divergence provides insight on how genomes are influenced by selection and can reveal the potential for local adaptation in spatially structured populations. In Atlantic cod – historically a major marine resource – Northeast-Arctic- and Norwegian coastal cod are recognized by fundamental differences in migratory and non-migratory behavior, respectively. However, the genomic architecture underlying such behavioral ecotypes is unclear. Here, we have analyzed more than 8.000 polymorphic SNPs distributed throughout all 23 linkage groups and show that loci putatively under selection are localized within three distinct genomic regions, each of sev…

0106 biological sciences0301 basic medicineLinkage disequilibriumHeterozygoteGenotypePopulation010603 evolutionary biology01 natural sciencesGenomePolymorphism Single NucleotideArticleLinkage Disequilibrium03 medical and health sciencesVDP::Matematikk og naturvitenskap: 400::Basale biofag: 470::Genetikk og genomikk: 474Genetic variationAnimals14. Life underwatereducationLocal adaptationGeneticsEcotypeGene Rearrangementeducation.field_of_studyMultidisciplinaryGenomeEcotypebiologyGenetic VariationBayes TheoremGene rearrangementbiology.organism_classificationVDP::Mathematics and natural scienses: 400::Basic biosciences: 470::Genetics and genomics: 474030104 developmental biologyGadus morhuaEvolutionary biologyAnimal MigrationAtlantic codScientific Reports
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The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild

2013

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License.-- et al.

0106 biological sciencesConservation geneticsMalegenotype phenotype correlationGorillaComputingMilieux_LEGALASPECTSOFCOMPUTINGarginineGenoma humà01 natural sciencesOculocutaneous albinism type 4single nucleotide polymorphismAlbinismegenetic variabilityGorillaInbreedinggenetic conservationGenetics0303 health sciencesGenomebiologyarticlecopy number variationHigh-Throughput Nucleotide SequencingSLC45A2 geneGenomicszygosityOculocutaneous albinismFloquet de neu (Goril·la)AlbinismFemaleBiotechnologyamino acid substitutionResearch ArticleSLC45A2Gorilla gorilla gorillaHeterozygoteAlbinismMolecular Sequence Datacomparative genomic hybridizationgene sequenceConservation010603 evolutionary biology03 medical and health sciencesWestern lowland gorillabiology.animalmedicineGeneticsheterozygosityAnimalsAmino Acid Sequencegene030304 developmental biologygene identificationWhole genome sequencingnonhumanGorilla gorillaMembrane Transport ProteinsSequence Analysis DNA15. Life on landbiology.organism_classificationmedicine.diseaseGenòmicaData_GENERALMutationbiology.proteinGenèticaoculocutaneous albinismglycineMicrosatellite RepeatsBMC Genomics
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Overcompensation as a mechanism for maintaining polymorphism: egg-to-adult viability in Drosophila.

1990

Frequency-dependent selection may be accounted for, in ecological terms, by the differential effectiveness of alternative genotypes in exploiting limiting environmental resources. Differentiation in resource exploitation among genotypes implies in turn that a mix of genotypes may exploit more fully the resources than a genetically uniform population, a phenomenon called 'overcompensation' Experiments designed to test for overcompensation whow that highly polymorphic populations can support larger numbers of individuals per food unit than less polymorphic populations. This difference cannot be attributed to the level of individual heterozygosity, which is the same in both types of population…

0106 biological sciencesGenetic MarkersHeterozygoteFrequency-dependent selectionPopulationPopulation geneticsPlant ScienceBiology010603 evolutionary biology01 natural sciencesPopulation densityIntraspecific competitionLoss of heterozygosity03 medical and health sciencesGeneticsAnimalsSelection GeneticeducationSelection (genetic algorithm)030304 developmental biologyOvumGenetics0303 health scienceseducation.field_of_studyNatural selectionPolymorphism GeneticSuperoxide DismutaseGeneral MedicineDrosophila melanogasterEvolutionary biologyInsect ScienceAnimal Science and ZoologyFemaleGenetica
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Genomic variation in tomato, from wild ancestors to contemporary breeding accessions

2015

[EN] Background: Domestication modifies the genomic variation of species. Quantifying this variation provides insights into the domestication process, facilitates the management of resources used by breeders and germplasm centers, and enables the design of experiments to associate traits with genes. We described and analyzed the genetic diversity of 1,008 tomato accessions including Solanum lycopersicum var. lycopersicum (SLL), S. lycopersicum var. cerasiforme (SLC), and S. pimpinellifolium (SP) that were genotyped using 7,720 SNPs. Additionally, we explored the allelic frequency of six loci affecting fruit weight and shape to infer patterns of selection. Results: Our results revealed a pat…

0106 biological sciencesGermplasm[SDV.SA]Life Sciences [q-bio]/Agricultural sciencesBreeding01 natural sciencesNucleotide diversityDomesticationtomatefréquence des allèlespérouGene FrequencyCherry tomatoequateurSolanum lycopersicumexpression du génomeFruit size genes2. Zero hungerGenetics0303 health sciencesVegetal BiologyGenomebiologytaille du fruitfood and beveragesGenomicsSolanum lycopersicum;Solanum pimpinellifolium;SolCAP array;Origin;Variability;Genome;Fruit size genes;DomesticationSolanum pimpinellifoliumAgricultural sciencesSolCAP arrayGenome PlantResearch ArticleBiotechnologyHeterozygotePolymorphism Single NucleotideEvolution Molecular03 medical and health sciencesOriginGeneticsvariabilité génomique[SDV.BV]Life Sciences [q-bio]/Vegetal BiologyAlleleGenomesVariabilityDomestication030304 developmental biologyGenetic diversityfungiSolanum pimpinellifoliumbiology.organism_classificationFruitaGENETICAFruitSolanumSciences agricolesBiologie végétale010606 plant biology & botanyamélioration des plantes
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Phylogenetic evidence for hybrid origins of asexual lineages in an aphid species

2003

International audience; Understanding the mode of origin of asexuality is central to ongoing debates concerning the evolution and maintenance of sexual reproduction in eukaryotes. This is because it has profound consequences for patterns of genetic diversity and ecological adaptability of asexual lineages, hence on the outcome of competition with sexual relatives both in short and longer terms. Among the possible routes to asexuality, hybridization is a very common mechanism in animals and plants. Aphids present frequent transitions from their ancestral reproductive mode (cyclical parthenogenesis) to permanent asexuality, but the mode of origin of asexual lineages is generally not known bec…

0106 biological sciencesMitochondrial DNAHeterozygoteEvolution of sexual reproduction[SDV]Life Sciences [q-bio]Parthenogenesis010603 evolutionary biology01 natural sciencesAsexualityRhopalosiphum padiEvolution Molecular03 medical and health sciencesReproduction AsexualGeneticsAnimalsCluster AnalysisAllele sequence divergenceHybridizationPhylogenyPolymorphism Single-Stranded ConformationalEcology Evolution Behavior and Systematics030304 developmental biologyGeneticsAphidLikelihood Functions0303 health sciencesbiologyPhylogenetic treeModels GeneticParthenogenesisSequence Analysis DNAbiology.organism_classificationNuclear DNASexual reproductionEvolution of sexAphids[SDE]Environmental SciencesHybridization GeneticGeneral Agricultural and Biological SciencesMicrosatellite Repeats
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Heterozygosity-fitness correlations in adult and juvenile Zenaida Dove, Zenaida aurita.

2013

10 pages; International audience; Understanding how fitness is related to genetic variation is of crucial importance in both evolutionary ecology and conservation biology. We report a study of heterozygosity-fitness correlations in a wild, noninbred population of Zenaida Doves, Zenaida aurita, based on a sample comprising 489 individuals (382 adults and 107 juveniles) typed at 13 microsatellite loci, resulting in a data set comprising 5793 genotypes. In both adults and juveniles, and irrespective of sex, no evidence was found for an effect of either multilocus or single-locus heterozygosity on traits potentially related to fitness such as foraging tactic, competitive ability, and fluctuatin…

0106 biological sciencesZenaida dovesPopulation Dynamics01 natural sciencesFluctuating asymmetryLinkage DisequilibriumLoss of heterozygosityGenetics (clinical)0303 health scienceseducation.field_of_studyLikelihood FunctionsEcology[SDV.BID.EVO]Life Sciences [q-bio]/Biodiversity/Populations and Evolution [q-bio.PE]Age Factorsoutbreeding depressionmultilocus heterozygosity[ SDV.BID.EVO ] Life Sciences [q-bio]/Biodiversity/Populations and Evolution [q-bio.PE]body conditionBiotechnologyZenaida auritaHeterozygoteGenotypeOutbreeding depressionPopulationForagingZoologyBarbadosBiology010603 evolutionary biology03 medical and health sciencesGeneticsJuvenileAnimals14. Life underwatereducationColumbidaeMolecular Biology030304 developmental biologyPopulation Density[ SDE.BE ] Environmental Sciences/Biodiversity and EcologyModels GeneticGenetic Variationisland populationmicrosatellite markersbiology.organism_classificationGenetics PopulationBody ConstitutionGenetic Fitness[SDE.BE]Environmental Sciences/Biodiversity and EcologyMicrosatellite Repeats
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Autosomal recessive hypercholesterolemia in Spain.

2017

Abstract Background and aims Autosomal recessive hypercholesterolemia (ARH) is a very rare disease, caused by mutations in LDL protein receptor adaptor 1 (LDLRAP1). It is characterized by high levels of low-density lipoprotein cholesterol (LDL-C) and increased risk of premature cardiovascular disease. We aimed to characterize ARH in Spain. Methods Data were collected from the Dyslipidemia Registry of the Spanish Atherosclerosis Society. A literature search was performed up to June 2017, and all diagnostic genetic studies for familial hypercholesterolemia of Spain were reviewed. Results Seven patients with ARH were identified, 6 true homozygous and one compound heterozygous with a novel muta…

0301 basic medicineAdultGenetic MarkersMalemedicine.medical_specialtyHeterozygoteHypercholesterolemiaDiseaseFamilial hypercholesterolemia030204 cardiovascular system & hematologyCompound heterozygosity03 medical and health sciences0302 clinical medicineInternal medicinemedicinePrevalenceHumansGenetic Predisposition to DiseaseRegistriesChildAdaptor Proteins Signal TransducingHypolipidemic Agentsbusiness.industryGenetic heterogeneityHomozygoteInfantCholesterol LDLMiddle Agedmedicine.diseaseAtherosclerosisUp-Regulation030104 developmental biologyEndocrinologyPhenotypeAutosomal Recessive HypercholesterolemiaSpainChild PreschoolCohortMutationDisease ProgressionFemaleCardiology and Cardiovascular MedicinebusinessDyslipidemiaRare diseaseAtherosclerosis
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IGF-1 Haploinsufficiency Causes Age-Related Chronic Cochlear Inflammation and Increases Noise-Induced Hearing Loss

2021

This article belongs to the Collection Insulin-Like Growth Factors in Development, Cancers and Aging.

0301 basic medicineAgingApoptosisHaploinsufficiencyMice0302 clinical medicineBiology (General)Insulin-Like Growth Factor ICell DeathapoptosisGeneral Medicine3. Good healthCochleaCytokinesmedicine.symptomHaploinsufficiencyNoise-induced hearing lossmedicine.medical_specialtyHeterozygoteHearing lossQH301-705.5InflammationArticleARHLProinflammatory cytokine03 medical and health sciencesInternal medicinemedicineotorhinolaryngologic diseasesAnimalsRNA MessengerProtein kinase BCochleaInflammationbusiness.industryGene Expression ProfilingAKTTGFβ1Auditory Thresholdmedicine.diseaseOxidative Stress030104 developmental biologyEndocrinologyGene Expression RegulationHearing Loss Noise-InducedAgeingSynapsesIL1βJNKbusinessNoise030217 neurology & neurosurgeryBiomarkersNIHL
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Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study

2017

Abstract Background Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by elevated plasma levels of LDL-cholesterol that confers an increased risk of premature atherosclerotic cardiovascular disease. Early identification and treatment of FH patients can improve prognosis and reduce the burden of cardiovascular mortality. Aim of this study was to perform the mutational analysis of FH patients identified through a collaboration of 20 Lipid Clinics in Italy (LIPIGEN Study). Methods We recruited 1592 individuals with a clinical diagnosis of definite or probable FH according to the Dutch Lipid Clinic Network criteria. We performed a parallel sequencing of the major…

0301 basic medicineApolipoprotein ECandidate geneSettore MED/09 - Medicina InternaDatabases FactualApolipoprotein BDNA Mutational AnalysisFamilial hypercholesterolemia030204 cardiovascular system & hematologyCompound heterozygosityPCSK90302 clinical medicineRisk FactorsReceptorsGeneticsHomozygoteAutosomal dominant traitPathogenic variantsGeneral MedicinePrognosisAPOB; Familial hypercholesterolemia; LDLR; PCSK9; Pathogenic variantsCholesterolPhenotypeItalyAutosomal Recessive HypercholesterolemiaApolipoprotein B-100lipids (amino acids peptides and proteins)Proprotein Convertase 9APOBCardiology and Cardiovascular MedicinePreliminary DataGenetic MarkersFamilial hypercholesterolemiaLDLRPCSK9APOBPathogenic variantsHeterozygoteFamilial hypercholesterolemiaBiologyPathogenic variantLDLHyperlipoproteinemia Type II03 medical and health sciencesDatabasesmedicineInternal MedicineHumansAPOB; Familial hypercholesterolemia; LDLR; Pathogenic variants; PCSK9; Internal Medicine; Cardiology and Cardiovascular MedicineGenetic Predisposition to DiseaseFactualPCSK9Settore MED/13 - ENDOCRINOLOGIAAPOB; Familial hypercholesterolemia; LDLR; Pathogenic variants; PCSK9; Cardiology and Cardiovascular Medicine; Internal Medicinemedicine.diseaseAtherosclerosis030104 developmental biologyLDLRReceptors LDLMutationbiology.proteinAPOB; Familial hypercholesterolemia; LDLR; Pathogenic variants; PCSK9; Apolipoprotein B-100; Atherosclerosis; Cholesterol; DNA Mutational Analysis; Databases Factual; Genetic Markers; Genetic Predisposition to Disease; Heterozygote; Homozygote; Humans; Hyperlipoproteinemia Type II; Italy; Phenotype; Preliminary Data; Prognosis; Proprotein Convertase 9; Receptors LDL; Risk Factors; Mutation; Internal Medicine; Cardiology and Cardiovascular Medicine
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Gene Expression and Apoptosis Levels in Cumulus Cells of Patients with Polymorphisms of FSHR and LHB Undergoing in Vitro Fertilization Program

2017

Background/Aims: FSH receptor (FSHR) Ala307Thr and Asn680Ser and LHβ chain (LHB) Trp28Arg and Ile35Thr polymorphisms affect the response to pharmacological ovarian stimulation with r-FSH in women undergoing assisted reproductive treatment (ART). Here, we evaluated the expression level of selected genes involved in follicle maturation and the possible onset of apoptosis in cumulus cells of patients with single and double FSHR and LHB polymorphisms, as potential markers of oocyte competence. Methods: Cumulus cells from 36 stimulated patients were collected and SNP genotyping performed by PCR. Gene expression was evaluated through real-time PCR, and apoptosis estimated via TUNEL assay, and cle…

0301 basic medicineApoptosis; Cumulus cells; FSHR; Gene expression; LH; Polymorphism; PhysiologyLHPhysiologyApoptosislcsh:PhysiologyGonadotropin-Releasing Hormone0302 clinical medicineGene FrequencyFSHRGene expressionlcsh:QD415-436Settore BIO/06 - Anatomia Comparata E CitologiaCells CulturedIn Situ Hybridization Fluorescence030219 obstetrics & reproductive medicinelcsh:QP1-981Caspase 3Apoptosis; Cumulus cells; FSHR; Gene expression; LH; Polymorphismmedicine.anatomical_structureCumulus cellReceptors FSHDNA fragmentationFemaleSignal TransductionAdultHeterozygotemedicine.medical_specialtyendocrine systemGenotypeGranulosa cellCumulus cellsDNA FragmentationFertilization in VitroBiologyReal-Time Polymerase Chain ReactionBuserelinPolymorphism Single Nucleotidelcsh:Biochemistry03 medical and health sciencesFollicleInternal medicinemedicineHumansPolymorphismApoptosiHeterozygote advantageLuteinizing Hormone beta SubunitOocyte030104 developmental biologyEndocrinologyHaplotypesApoptosisMultivariate AnalysisOocytesGene expressionFollicle-stimulating hormone receptorProto-Oncogene Proteins c-aktCellular Physiology and Biochemistry
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