Search results for " genomi"

showing 10 items of 572 documents

Genome-Wide Estimation of the Spontaneous Mutation Rate of Human Adenovirus 5 by High-Fidelity Deep Sequencing

2016

Rates of spontaneous mutation determine the ability of viruses to evolve, infect new hosts, evade immunity and undergo drug resistance. Contrarily to RNA viruses, few mutation rate estimates have been obtained for DNA viruses, because their high replication fidelity implies that new mutations typically fall below the detection limits of Sanger and standard next-generation sequencing. Here, we have used a recently developed high-fidelity deep sequencing technique (Duplex Sequencing) to score spontaneous mutations in human adenovirus 5 under conditions of minimal selection. Based on >200 single-base spontaneous mutations detected throughout the entire viral genome, we infer an average mutatio…

0301 basic medicineAdenovirusesMutation rateGene Identification and AnalysisPathology and Laboratory MedicinePolymerase Chain ReactionMutation RateMedicine and Health Scienceslcsh:QH301-705.5GeneticsViral GenomicsInsertion MutationAdenovirus genomeMicrobial MutationHigh-Throughput Nucleotide SequencingGenomicsResistance mutation3. Good healthMedical MicrobiologyViral PathogensVirusesPathogensSequence AnalysisResearch Articlelcsh:Immunologic diseases. AllergySubstitution MutationImmunologyMicrobial GenomicsGenome ViralBiologyResearch and Analysis MethodsMicrobiologyDeep sequencingFrameshift mutation03 medical and health sciencesSequence Motif AnalysisVirologyGeneticsPoint MutationHumansMolecular Biology TechniquesSequencing TechniquesMicrobial PathogensMutation DetectionMolecular BiologySuppressor mutation030102 biochemistry & molecular biologyAdenoviruses HumanPoint mutationOrganismsBiology and Life SciencesVirology030104 developmental biologylcsh:Biology (General)MutationDynamic mutationParasitologyDNA viruseslcsh:RC581-607PLOS Pathogens
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Type of chromosome abnormality affects embryo morphology dynamics.

2016

Objective To study the differences in the cleavage time between types of embryo chromosomal abnormalities and elaborate algorithm to exclude aneuploid embryos according to the likelihood to be euploid. Design Retrospective cohort study. Setting University affiliated private center. Patient(s) Preimplantational genetic screening patients (n = 112) including cases of advanced maternal age, repeated implantation failure, and recurrent miscarriage. A total of 485 embryos were analyzed. Intervention(s) None. Main Outcome Measure(s) All biopsied embryos were cultured in an incubator with time-lapse technology, cleavage timing from insemination to day 3 and all kinetic parameters that have been de…

0301 basic medicineAdultBiopsyAneuploidyEmbryonic DevelopmentChromosome DisordersFertilization in VitroBiologyTime-Lapse ImagingAndrology03 medical and health sciences0302 clinical medicinePredictive Value of TestsPregnancyRisk FactorsRecurrent miscarriagemedicineOdds RatioChromosomes HumanHumansAdvanced maternal ageGenetic TestingPreimplantation DiagnosisRetrospective StudiesGeneticsChromosome AberrationsComparative Genomic Hybridization030219 obstetrics & reproductive medicineMicroscopy VideoObstetrics and GynecologyRetrospective cohort studyEmbryoOdds ratiomedicine.diseaseAneuploidyConfidence intervalKinetics030104 developmental biologyBlastocystLogistic ModelsReproductive Medicineembryonic structuresChromosome abnormalityFemaleFertility and sterility
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Transcriptomic behavior of genes associated with chromosome 21 aneuploidies in early embryo development.

2019

To analyze how chromosome 21 (HSA21) ploidy affects global gene expression of early human blastocysts.Prospective study.University-affiliated in vitro fertilization clinic.A total of 26 high-quality donated embryos from in vitro fertilization (IVF) patients: trisomy 21 (n = 8), monosomy 21 (n = 10), and euploid (n = 8) blastocysts.None.Blastocyst transcriptome changes and its associated functions.Trisomy 21, monosomy 21, and euploid blastocysts were classified by comparative genomic hybridization. The global transcriptome of whole blastocysts was analyzed with small cell number RNA sequencing, and they were compared to understand the gene expression behavior at early development and its imp…

0301 basic medicineAdultDown syndromeReproductive Techniques AssistedChromosomes Human Pair 21Embryonic DevelopmentBiologyTranscriptomeAndrologyEmbryo Culture Techniques03 medical and health sciences0302 clinical medicineMonosomyPregnancymedicineHumansBlastocystProspective StudiesGenetic Association Studies030219 obstetrics & reproductive medicineObstetrics and GynecologyEmbryomedicine.diseaseAneuploidy030104 developmental biologymedicine.anatomical_structureReproductive Medicineembryonic structuresFemalePloidyTrisomyChromosome 21TranscriptomeComparative genomic hybridizationFertility and sterility
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DNA Methylation and Potential for Epigenetic Regulation in Pygospio elegans.

2015

Transitions in developmental mode are common evolutionarily, but how and why they occur is not understood. Developmental mode describes larval phenotypes, including morphology, ecology and behavior of larvae, which typically are generalized across different species. The polychaete worm Pygospio elegans is one of few species polymorphic in developmental mode, with multiple larval phenotypes, providing a possibility to examine the potential mechanisms allowing transitions in developmental mode. We investigated the presence of DNA methylation in P. elegans, and, since maternal provisioning is a key factor determining eventual larval phenotype, we compared patterns of DNA methylation in females…

0301 basic medicineBiochemistryEpigenesis GeneticTranscriptomeLarvaeInvertebrate GenomicsGeneticsMultidisciplinaryDNA methylationNucleotidesOrganic CompoundsQRphenotypesMethylationGenomicsPhenotypeChromatinDNA-metylaatioNucleic acidsChemistryCpG siteepigenetiikkaDNA methylationPhysical SciencesMedicineFemaleEpigeneticsDNA modificationTranscriptome AnalysisChromatin modificationResearch ArticleChromosome biologyCell biologyScienceBiology03 medical and health sciencestoukatCytosineGeneticsAnimalsEpigeneticsGeneBiology and life sciencesMetamorphosista1184fungiOrganic ChemistryOrganismsChemical CompoundsComputational BiologyPolychaetaDNAGenome AnalysisInvertebrates030104 developmental biologyDifferentially methylated regionsPyrimidinesAnimal Genomicspolychaetesta1181CpG IslandsGene expressionDevelopmental BiologyPloS one
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Insect pathogenicity in plant-beneficial pseudomonads: phylogenetic distribution and comparative genomics

2016

Bacteria of the genus Pseudomonas occupy diverse environments. The Pseudomonas fluorescens group is particularly well-known for its plant-beneficial properties including pathogen suppression. Recent observations that some strains of this group also cause lethal infections in insect larvae, however, point to a more versatile ecology of these bacteria. We show that 26 P. fluorescens group strains, isolated from three continents and covering three phylogenetically distinct sub-clades, exhibited different activities toward lepidopteran larvae, ranging from lethal to avirulent. All strains of sub-clade 1, which includes Pseudomonas chlororaphis and Pseudomonas protegens, were highly insecticidal…

0301 basic medicineBioinformaticsVirulencePseudomonas fluorescensBiologyMicrobiologyHost SpecificityMicrobiology03 medical and health sciencesPseudomonas protegensMicrobial ecologyPhylogeneticsPseudomonasAnimalsEcology Evolution Behavior and SystematicsPhylogenyComparative genomicsGenomeVirulencePseudomonasfungiGenomics570: BiologiePlantsPseudomonas chlororaphisbiology.organism_classification3. Good healthLepidoptera030104 developmental biologyLarvainternationalOriginal Article
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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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A community resource of experimental data for NMR / X-ray crystal structure pairs

2015

We have developed an online NMR / X-ray Structure Pair Data Repository. The NIGMS Protein Structure Initiative (PSI) has provided many valuable reagents, 3D structures, and technologies for structural biology. The Northeast Structural Genomics Consortium was one of several PSI centers. NESG used both X-ray crystallography and NMR spectroscopy for protein structure determination. A key goal of the PSI was to provide experimental structures for at least one representative of each of hundreds of targeted protein domain families. In some cases, structures for identical (or nearly identical) constructs were determined by both NMR and X-ray crystallography. NMR spectroscopy and X-ray diffraction …

0301 basic medicineChemistryNuclear magnetic resonance crystallographyNuclear magnetic resonance spectroscopyBiochemistryStructural genomics03 medical and health sciencesCrystallographyStructural bioinformatics030104 developmental biologyProtein structureStructural biologyTriple-resonance nuclear magnetic resonance spectroscopyMolecular BiologyProtein Structure InitiativeProtein Science
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Aneuploidy and Ethanol Tolerance in Saccharomyces cerevisiae

2019

Response to environmental stresses is a key factor for microbial organism growth. One of the major stresses for yeasts in fermentative environments is ethanol. Saccharomyces cerevisiae is the most tolerant species in its genus, but intraspecific ethanol-tolerance variation exists. Although, much effort has been done in the last years to discover evolutionary paths to improve ethanol tolerance, this phenotype is still hardly understood. Here, we selected five strains with different ethanol tolerances, and used comparative genomics to determine the main factors that can explain these phenotypic differences. Surprisingly, the main genomic feature, shared only by the highest ethanol-tolerant st…

0301 basic medicineChromosome IIIlcsh:QH426-470Saccharomyces cerevisiaeAneuploidycomparative genomicsSaccharomyces cerevisiaeEthanol toleranceBiologyTranscriptome03 medical and health sciences0302 clinical medicineGeneticsmedicineaneuploidyGenetics (clinical)Wine yeastsGeneticsComparative genomicsComparative genomicsStrain (biology)chromosome IIIChromosomewine yeastsAneuploidybiology.organism_classificationmedicine.diseasePhenotypeethanol tolerancelcsh:Genetics030104 developmental biology030220 oncology & carcinogenesisMolecular MedicinePloidyFrontiers in Genetics
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Establishing gene models from the Pinus pinaster genome using gene capture and BAC sequencing

2016

Background In the era of DNA throughput sequencing, assembling and understanding gymnosperm mega-genomes remains a challenge. Although drafts of three conifer genomes have recently been published, this number is too low to understand the full complexity of conifer genomes. Using techniques focused on specific genes, gene models can be established that can aid in the assembly of gene-rich regions, and this information can be used to compare genomes and understand functional evolution. Results In this study, gene capture technology combined with BAC isolation and sequencing was used as an experimental approach to establish de novo gene structures without a reference genome. Probes were design…

0301 basic medicineChromosomes Artificial BacterialDNA PlantGenomicsBiologyMaritime pineGenome03 medical and health sciencesGene captureGeneticsGene familyGenomic libraryGeneBACGene LibraryGeneticsModels GeneticExonsGenomicsSequence Analysis DNAPinusIntronsGene structurePromoter studies030104 developmental biologyBioinformatic pipelineGene model constructDNA microarrayFunctional genomicsGenome PlantReference genomeResearch ArticleBiotechnologyBMC Genomics
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2017

Hemipteran insects are well-known in their ability to establish symbiotic relationships with bacteria. Among them, heteropteran insects present an array of symbiotic systems, ranging from the most common gut crypt symbiosis to the more restricted bacteriome-associated endosymbiosis, which have only been detected in members of the superfamily Lygaeoidea and the family Cimicidae so far. Genomic data of heteropteran endosymbionts are scarce and have merely been analyzed from the Wolbachia endosymbiont in bed bug and a few gut crypt-associated symbionts in pentatomoid bugs. In this study, we present the first detailed genomic analysis of a bacteriome-associated endosymbiont of a phytophagous he…

0301 basic medicineComparative genomicsSodalisfood.ingredientEndosymbiosisbiologyfungiLygaeoideaBacteriomebiochemical phenomena metabolism and nutritionbiology.organism_classificationHemiptera03 medical and health sciences030104 developmental biologyfoodEvolutionary biologyPhylogenomicsBotanyGeneticsbacteriaWolbachiaEcology Evolution Behavior and SystematicsGenome Biology and Evolution
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