Search results for "Genome"

showing 10 items of 1913 documents

Population genomic analysis of elongated skulls reveals extensive female-biased immigration in Early Medieval Bavaria

2018

Significance Many modern European states trace their roots back to a period known as the Migration Period that spans from Late Antiquity to the early Middle Ages. We have conducted the first population-level analysis of people from this era, generating genomic data from 41 graves from archaeological sites in present-day Bavaria in southern Germany mostly dating to around 500 AD. While they are predominantly of northern/central European ancestry, we also find significant evidence for a nonlocal genetic provenance that is highly enriched among resident Early Medieval women, demonstrating artificial skull deformation. We infer that the most likely origin of the majority of these women was sout…

0301 basic medicineHuman MigrationGenetic genealogyPopulationPopulation geneticsMigration PeriodGenetic analysisWhite PeoplePrehistory03 medical and health sciences0302 clinical medicineGermanyHumansEarly MedievalEast AsiaDNA Ancienteducationeducation.field_of_studyMultidisciplinaryPopulation BiologyWhole Genome SequencingGenome HumanGenetic heterogeneitySkullpopulation geneticsGenetic VariationGenomicsBiological Sciencesdemographic inferenceHistory MedievalpaleogenomicsGenetics PopulationPhenotype030104 developmental biologyGeographyArchaeologyHaplotypesEvolutionary biologyGenetic structureFemale030217 neurology & neurosurgeryProceedings of the National Academy of Sciences
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Identification of factors involved in dimorphism and pathogenicity of Zymoseptoria tritici

2017

A forward genetics approach was applied in order to investigate the molecular basis of morphological transition in the wheat pathogenic fungus Zymoseptoria tritici. Z. tritici is a dimorphic plant pathogen displaying environmentally regulated morphogenetic transition between yeast-like and hyphal growth. Considering the infection mode of Z. tritici, the switching to hyphal growth is essential for pathogenicity allowing the fungus the host invasion through natural openings like stomata. We exploited a previously developed Agrobacterium tumefaciens-mediated transformation (ATMT) to generate a mutant library by insertional mutagenesis including more than 10,000 random mutants. To identify gene…

0301 basic medicineHyphal growthMutantlcsh:MedicinePlant SciencePathogenesisPathology and Laboratory MedicineDatabase and Informatics MethodsMedicine and Health Scienceslcsh:ScienceGeneticsMultidisciplinaryVirulenceOrganic CompoundsPlant Fungal PathogensFungal geneticsGenomicsGenomic DatabasesMutant StrainsChemistryPhysical SciencesResearch ArticleGene predictionGenes Fungal030106 microbiologyPlant PathogensMycologyBiologyResearch and Analysis MethodsFungal ProteinsInsertional mutagenesis03 medical and health sciencesAscomycotaGeneticsFungal GeneticsGene PredictionGeneOrganic Chemistrylcsh:ROrganismsFungiChemical CompoundsBiology and Life SciencesComputational BiologyPlant PathologyGenome AnalysisForward geneticsReverse geneticsBiological DatabasesPurinesMutationlcsh:QPLOS ONE
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ICTV Virus Taxonomy Profile: Pseudoviridae

2021

Pseudoviridae is a family of reverse-transcribing viruses with long terminal repeats (LTRs) belonging to the order Ortervirales. Pseudoviruses are commonly found integrated in the genomes of diverse plants, fungi and animals and are broadly known as Ty1/Copia LTR retrotransposons. Inside the cell, they form icosahedral virus particles, but unlike most other viruses, do not have an extracellular phase. This is a summary of the ICTV Report on the family Pseudoviridae, which is available at ictv.global/report/pseudoviridae.

0301 basic medicineINTRetroelementstaxonomy. Abbreviations: CPvirusesLTR030106 microbiologynucleocapsidRetrotransposonGenome ViralVirus Replicationvirus-like particlesGenomeVirusPRRTPPT03 medical and health sciencestaxonomyVirologyVLPRetrovirusesreverse transcriptaseICTV ReportcapsidRNA VirusesPBSVirus classificationbiologyAnimalfungiTerminal Repeat SequencesPseudoviridaeproteasepolypurine tractbiology.organism_classificationVirologyLong terminal repeatlong terminal repeat030104 developmental biology[SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/VirologyRNA ViralintegraseRHNCIctv Virus Taxonomy Profileribonuclease HPseudoviridaeprimer binding site
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Conservation status and historical relatedness of Italian cattle breeds

2018

Background In the last 50 years, the diversity of cattle breeds has experienced a severe contraction. However, in spite of the growing diffusion of cosmopolite specialized breeds, several local cattle breeds are still farmed in Italy. Genetic characterization of breeds represents an essential step to guide decisions in the management of farm animal genetic resources. The aim of this work was to provide a high-resolution representation of the genome-wide diversity and population structure of Italian local cattle breeds using a medium-density single nucleotide polymorphism (SNP) array. Results After quality control filtering, the dataset included 31,013 SNPs for 800 samples from 32 breeds. Ou…

0301 basic medicineIn situ conservation[SDV]Life Sciences [q-bio]Animals; Animals Domestic; Breeding; Cattle; Conservation of Natural Resources; Evolution Molecular; Genetics Population; Genome-Wide Association Study; Linkage Disequilibrium; Phylogeny; Population Density; Genetic Variation; Polymorphism Single Nucleotide;Italian Bovine Genetic VariabilityRuns of HomozygosityBreedingLinkage DisequilibriumSettore AGR/17 - Zootecnica Generale E Miglioramento GeneticoItalian cattle breeds Bovine Genetic Variability Bovine SNP Bovine Genomocs Markers Italian Bovine Genetic VariabilityConservation of Natural ResourceDomesticPhylogenylcsh:SF1-11002. Zero hungereducation.field_of_studyEcologySettore AGR/17 - ZOOTECNICA GENERALE E MIGLIORAMENTO GENETICOBiodiversity04 agricultural and veterinary sciencesGeneral MedicineSingle NucleotideItalyAnimals DomesticBovine SNPLivestockItalian cattle breeds Bovine Genetic VariabilityEcology Evolution Behavior and Systematics; Animal Science and Zoology; GeneticsInbreedingGenetic isolateResearch ArticleConservation of Natural Resourceslcsh:QH426-470EvolutionAnimals; Animals Domestic; Breeding; Cattle; Conservation of Natural Resources; Evolution Molecular; Genetics Population; Genome-Wide Association Study; Linkage Disequilibrium; Phylogeny; Population Density; Genetic Variation; Polymorphism Single NucleotidePopulationPopulationBiologyPolymorphism Single NucleotideBovine Genomocs MarkersEvolution Molecular03 medical and health sciencesBehavior and SystematicsSNP local cattle structureGenetic variationGeneticsAnimalsPolymorphismeducationEcology Evolution Behavior and SystematicsPopulation DensityGenetic diversityAnimalbusiness.industry0402 animal and dairy scienceAnimals; Animals Domestic; Breeding; Cattle; Conservation of Natural Resources; Evolution Molecular; Genetics Population; Genome-Wide Association Study; Linkage Disequilibrium; Phylogeny; Population Density; Genetic Variation; Polymorphism Single Nucleotide; Ecology Evolution Behavior and Systematics; Animal Science and Zoology; GeneticsMolecularGenetic VariationEcology Evolution Behavior and Systematic040201 dairy & animal sciencelcsh:GeneticsBiodiversity cattle ItalyGenetics Population030104 developmental biologyEvolutionary biologyCattleAnimal Science and Zoologylcsh:Animal culturebusinessGenome-Wide Association Study
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A unique view of SARS-CoV-2 through the lens of ORF8 protein

2021

Immune evasion is one of the unique characteristics of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) attributed to its ORF8 protein. This protein modulates the adaptive host immunity through down-regulation of MHC-1 (Major Histocompatibility Complex) molecules and innate immune responses by surpassing the host's interferon-mediated antiviral response. To understand the host's immune perspective concerning the ORF8 protein, a comprehensive study of the ORF8 protein and mutations possessed by it have been performed. Chemical and structural properties of ORF8 proteins from different hosts, such as human, bat, and pangolin, suggest that the ORF8 of SARS-CoV-2 is much closer to OR…

0301 basic medicineInfectious MedicinePhysicochemical propertiesInfektionsmedicinHealth InformaticsGenome ViralMutational hotspotsMajor histocompatibility complexArticleEvolution Molecular03 medical and health sciences0302 clinical medicineImmune systemPhylogeneticsHumansPhylogenySequence (medicine)chemistry.chemical_classificationGeneticsInnate immune systembiologySARS-CoV-2Host (biology)COVID-19ORF8biochemical phenomena metabolism and nutritionORF8 evolutionComputer Science ApplicationsAmino acidPhylogenetics030104 developmental biologychemistrybiology.proteinSample collection030217 neurology & neurosurgeryComputers in Biology and Medicine
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Uterine disorders affecting female fertility: what are the molecular functions altered in endometrium?

2020

[EN]: Objective:To determine the molecular functions of genes exhibiting altered expression in the endometrium of women with uterine disorders affecting fertility. Design: Retrospective analysis integrating case and control data from multiple cohorts with endometrium gene expression in women with uterine disorders. Setting: Infertility research department affiliated with a university hospital. Patient(s): Two hundred and forty women, 121 of whom were controls, 119 of whom had endometrial adenocarcinoma (ADC), recurrent implantation failure (RIF), recurrent pregnancy loss (RPL), or stage II–IV endometriosis. Intervention(s): None. Main Outcome Measure(s): Genomewide gene expression and alter…

0301 basic medicineInfertilityAbortion Habitualendometrial receptivitymedia_common.quotation_subjectEndometriosisEndometriosisPhysiologyFertilityProtein degradationAdenocarcinomaEndometrium03 medical and health sciencesEndometrium0302 clinical medicineRisk FactorsDatabases GeneticmedicineHumansEmbryo Implantationmedia_commonRetrospective StudiesUterine DiseasesPregnancy030219 obstetrics & reproductive medicineEmbryo implantation alterations endometrial factor endometrial receptivity endometrial transcriptomics functional genomic meta-analysisbusiness.industryurogenital systemObstetrics and GynecologyCell cyclemedicine.diseaseendometrial factorUterine DisorderEndometrial Neoplasmsendometrial transcriptomics030104 developmental biologymedicine.anatomical_structureFertilityReproductive MedicineGene Expression RegulationEmbryo implantation alterationsfunctional genomic meta-analysisFemalebusinessInfertility FemaleGenome-Wide Association Study
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Machine Learning-Based Approach Highlights the Use of a Genomic Variant Profile for Precision Medicine in Ovarian Failure

2021

Ovarian failure (OF) is a common cause of infertility usually diagnosed as idiopathic, with genetic causes accounting for 10–25% of cases. Whole-exome sequencing (WES) may enable identifying contributing genes and variant profiles to stratify the population into subtypes of OF. This study sought to identify a blood-based gene variant profile using accumulation of rare variants to promote precision medicine in fertility preservation programs. A case–control (n = 118, n = 32, respectively) WES study was performed in which only non-synonymous rare variants &lt

0301 basic medicineInfertilityOncologygenomic taxonomymedicine.medical_specialtyprecision medicineovarian failurePopulationMedicine (miscellaneous)BiologyGenoma humàArticlewhole exome sequencing03 medical and health sciences0302 clinical medicineInternal medicinemedicinesingle nucleotide variantFertility preservationeducationGeneExome sequencingeducation.field_of_study030219 obstetrics & reproductive medicinebusiness.industryRpersonalized medicinePrecision medicinemedicine.diseaseprediction modelMinor allele frequency030104 developmental biologyGinecologiaMedicineovaryPersonalized medicineinfertilitybusinessgenome variant profileJournal of Personalized Medicine
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Ancient bacterial genomes reveal a high diversity of Treponema pallidum Strains in early Modern Europe

2020

Syphilis is a globally re-emerging disease, which has marked European history with a devastating epidemic at the end of the 15th century. Together with non-venereal treponemal diseases, like bejel and yaws, which are found today in subtropical and tropical regions, it currently poses a substantial health threat worldwide. The origins and spread of treponemal diseases remain unresolved, including syphilis’ potential introduction into Europe from the Americas. Here, we present the first genetic data from archaeological human remains reflecting a high diversity of Treponema pallidum in early modern Europe. Our study demonstrates that a variety of strains related to both venereal syphilis and y…

0301 basic medicineLineage (evolution)TPRKDiseaseSubspeciesANNOTATION0302 clinical medicineEPIDEMIOLOGYHistory 15th CenturyTreponemaAncient DNAbiologyORIGINAncient DNA; Pathogen evolution; Treponema pallidum; Syphilis; Yaws2800 General Neuroscience10218 Institute of Legal Medicine3. Good healthEuropeMANIFESTATIONSArchaeologySister group1181 Ecology evolutionary biologyGeneral Agricultural and Biological Sciences610 Medicine & healthGenetics and Molecular Biology1100 General Agricultural and Biological SciencesPathogen evolutionGeneral Biochemistry Genetics and Molecular BiologyUFSP13-7 Evolution in Action: From Genomes to Ecosystems03 medical and health sciences1300 General Biochemistry Genetics and Molecular BiologymedicineHumansSYPHILIS SPIROCHETETreponema pallidumSyphilisDNA AncientIDENTIFICATIONGenetic Variationbiology.organism_classificationmedicine.diseaseHistory MedievalDNA-SEQUENCES030104 developmental biologyAncient DNAEvolutionary biologyYaws11294 Institute of Evolutionary MedicineGeneral BiochemistryVISUALIZATIONSyphilisEarly modern EuropeGenome Bacterial030217 neurology & neurosurgery
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Mycobacterium tuberculosis complex lineage 5 exhibits high levels of within-lineage genomic diversity and differing gene content compared to the type…

2021

Pathogens of theMycobacterium tuberculosiscomplex (MTBC) are considered to be monomorphic, with little gene content variation between strains. Nevertheless, several genotypic and phenotypic factors separate strains of the different MTBC lineages (L), especially L5 and L6 (traditionally termedMycobacterium africanum) strains, from each other. However, this genome variability and gene content, especially of L5 strains, has not been fully explored and may be important for pathobiology and current approaches for genomic analysis of MTBC strains, including transmission studies. By comparing the genomes of 355 L5 clinical strains (including 3 complete genomes and 352 Illumina whole-genome sequenc…

0301 basic medicineLineage (genetic)Genotype030106 microbiologySequence assemblyPathogens and Epidemiologylineage 5Genomegenomic diversity03 medical and health sciencesSpecies SpecificityDrug Resistance Multiple BacterialGenotypeHumansTuberculosisH37RvBiologyGeneResearch Articlesreference genomewithin-lineage variabilityGeneticsWhole Genome SequencingbiologyChromosome MappingGenetic VariationHigh-Throughput Nucleotide SequencingMycobacterium tuberculosisSequence Analysis DNAgene presence/absenceGeneral Medicinebiology.organism_classification030104 developmental biologyL5.3.2Mycobacterium tuberculosis complexM. africanumHuman medicineMycobacterium africanumGenome BacterialReference genomeMicrobial Genomics
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The first high-density sequence characterized SNP-based linkage map of olive (Olea europaea L. subsp. europaea) developed using genotyping by sequenc…

2016

A number of linkage maps have been previously developed in olive; however, these are mostly composed of markers that have not been characterized at the sequence level, supplemented with smaller numbers of microsatellite markers. In this investigation, we sought to develop a saturated linkage mapping resource for olive composed entirely of sequence characterized markers. We employed genotyping by sequencing to develop a map of a F2 population derived from the selfing of the cultivar Koroneiki. The linkage map contained a total of 23 linkage groups comprised of 1,597 tagged SNP markers in 636 mapping bins spanning a genetic distance of 1189.7 cM. An additional 6,658 segregating SNPs were asso…

0301 basic medicineLinkage (software)GeneticsSelfingOliveSingle-nucleotide polymorphismF2 progenyPlant ScienceBiologyGenome anchoringDNA sequencingSettore AGR/03 - Arboricoltura Generale E Coltivazioni ArboreeF2 progeny; Genome anchoring; Next-generation sequencing; Olive; Plant habit; Self-compatibility; Tree architecture; Agronomy and Crop Science; Plant Science03 medical and health sciences030104 developmental biologyGenetic distanceSelf-compatibilityTree architectureGenetic linkageNext-generation sequencingMicrosatelliteSNPPlant habitAgronomy and Crop Science
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