Search results for "Cromosomes"

showing 5 items of 5 documents

Differential preservation of endogenous human and microbial DNA in dental calculus and dentin.

2018

AbstractDental calculus (calcified dental plaque) is prevalent in archaeological skeletal collections and is a rich source of oral microbiome and host-derived ancient biomolecules. Recently, it has been proposed that dental calculus may provide a more robust environment for DNA preservation than other skeletal remains, but this has not been systematically tested. In this study, shotgun-sequenced data from paired dental calculus and dentin samples from 48 globally distributed individuals are compared using a metagenomic approach. Overall, we find DNA from dental calculus is consistently more abundant and less contaminated than DNA from dentin. The majority of DNA in dental calculus is microb…

0301 basic medicineDNA BacterialMicrobial DNAPreservation Biologicallcsh:MedicineBiologyDental plaqueArticle03 medical and health scienceschemistry.chemical_compoundstomatognathic systemCalculusDentinmedicineHumansDental CalculusFragmentation (cell biology)lcsh:ScienceCromosomes humansMultidisciplinaryBacteriaCalculus (dental)Microbiotalcsh:Rmedicine.diseasestomatognathic diseases030104 developmental biologymedicine.anatomical_structurechemistryMetagenomicsDentinlcsh:QOral MicrobiomeMetagenomicsDNAScientific reports
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Mutations along human chromosomes: How randomly scattered are they?

2022

The diversity of mutations in human chromosomes is nowadays very well documented. The mutations characterize populations in the world as well as genetic causes of diseases. In the approach that we follow, we study the patterns of gaps between mutations by means of the rescaled range analysis and the fractal dimension estimates. The results for chromosomes 1 to 22 and X indicate the existence of the so-called Hurst phenomenon in all of them. The interpretation of this outcome entails the presence of long-range correlations and we propose an explanation based on the genomic feature dubbed linkage disequilibrium, a nonrandom association of alleles at different loci. An unexpected outcome is th…

Cromosomes humansMutació (Biologia)
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Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence

2016

The chromosome bands 15q24.1-15q24.3 contain a complex region with numerous segmental duplications that predispose to regional microduplications and microdeletions, both of which have been linked to intellectual disability, speech delay and autistic features. The region may also harbour common inversion polymorphisms whose functional and phenotypic manifestations are unknown. Using single nucleotide polymorphism (SNP) data, we detected four large contiguous haplotype-genotypes at 15q24 with Mendelian inheritance in 2,562 trios, African origin, high population stratification and reduced recombination rates. Although the haplotype-genotypes have been most likely generated by decreased or abse…

HeredityAutism Spectrum DisorderIntelligenceSocial SciencesChromosome DisordersMAN2C1 geneFamiliesMicePsychologylcsh:ScienceChildChildrenIn Situ HybridizationCognitive ImpairmentIntelligence Testseducation.field_of_studyIntelligence quotientBrainGenomicsNeurologyChromosome DeletionHumanGenotypeEvolutionSingle-nucleotide polymorphismFluorescenceEvolution Molecular03 medical and health sciencesalpha-MannosidaseIntellectual DisabilityMannosidasesGeneticsChromosome 15q24 2HumansPolymorphismeducationChromosome Aberrationslcsh:RHaplotypePair 15PongoBiology and Life SciencesComputational BiologyMolecularmedicine.diseaseIntellectual Disability/genetics030104 developmental biologyNeurodevelopmental DisordersDevelopmental PsychologyAfricalcsh:QPopulation GroupingsGene expressionEthiopiaAutismePopulation GeneticsNeuroscience0301 basic medicineAutismlcsh:MedicineGene ExpressionHomozygosityGeographical LocationsCohort StudiesChromosome Disorders/geneticsIntellectual disabilityMedicine and Health SciencesIn Situ Hybridization FluorescenceSegmental duplicationMannosidases/geneticsGeneticsMultidisciplinaryGenomeCognitive NeurologyHomozygoteSingle NucleotidePhenotypesymbolsInfantsResearch ArticleCognitive NeurosciencePopulationInfants -- DesenvolupamentBiologyPolymorphism Single NucleotideChromosomessymbols.namesakeDevelopmental NeurosciencemedicineAnimalsBrain/metabolismCromosomes humans -- AnomaliesAlleleChromosomes Human Pair 15Evolutionary BiologyPopulation BiologyGenome HumanChromosome 15qIntelligence/geneticsGenome AnalysisGenomic LibrariesExpressió gènicaMacaca mulattaRatsHaplotypesAge GroupsPeople and PlacesMendelian inheritanceCognitive Science
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The telomeric Cdc13-Stn1-Ten1 complex regulates RNA polymerase II transcription

2019

Advance article.

S phase transcribed genesTranscription GeneticChromosomal Proteins Non-HistoneCell Cycle ProteinsRNA polymerase IIBur1[SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC]Genome Integrity Repair and ReplicationS Phase0302 clinical medicineTranscription (biology)Gene Expression Regulation FungalTranscriptional regulation0303 health sciencesCdc13-Stn1-Ten1biology030302 biochemistry & molecular biologyTranscription regulationRNA pol IIChromatinCyclin-Dependent KinasesCell biologyTelomeres030220 oncology & carcinogenesisRNA Polymerase IITranscriptional Elongation FactorsSaccharomyces cerevisiae ProteinsDNA polymerase IITelomere-Binding ProteinsSaccharomyces cerevisiae[SDV.CAN]Life Sciences [q-bio]/CancerSaccharomyces cerevisiaeCST complex03 medical and health sciencesGeneticsBudding yeastGenomesGene030304 developmental biologyHmo1RNA[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biologyPromoterbiology.organism_classificationCromosomesTelomerebiology.proteinSpt5Cyclin-Dependent Kinase-Activating Kinase
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Pràctiques de laboratori de Genètica: Grau en Biotecnologia

2011

Es realitzaran dues pràctiques, una sobre la "Segregació de caràcters", en què es farà ús de la Drosophila melanogaster com a organisme experimental, i una altra sobre "Cromosomes politènics", en què es farà ús de la Drosophila subobscura. Ambdues pràctiques estaran imbricades en el temps per optimitzar les sessions de laboratori.

UNESCO::CIENCIAS DE LA VIDA::GenéticaSegregació de caràcters ; Cromosomes politènics
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