Search results for "Chromosomal inversion"

showing 10 items of 24 documents

Adaptation and ecological speciation in seasonally varying environments at high latitudes: Drosophila virilis group

2022

Living in high latitudes and altitudes sets specific requirements on species’ ability to forecast seasonal changes and to respond to them in an appropriate way. Adaptation into diverse environmental conditions can also lead to ecological speciation through habitat isolation or by inducing changes in traits that influence assortative mating. In this review, we explain how the unique time-measuring systems of Drosophila virilis group species have enabled the species to occupy high latitudes and how the traits involved in species reproduction and survival exhibit strong linkage with latitudinally varying photoperiodic and climatic conditions. We also describe variation in reproductive barriers…

Drosophila virilis groupReproductive IsolationmahlakärpäsetGenetic SpeciationLocal adaptationPhotoperiodreproductive diapauseReviewkylmänkestävyysphotoperiodic timerchromosomal inversionscircadian clockilmastoelinympäristöAnimalsmuuntelu (biologia)lepotilavuorokausirytmisopeutuminenvuodenajatkromosomi-inversiotReproductioncold tolerancelisääntyminenAdaptation Physiologicalgenome sequencingInsect SciencelajiutuminenDrosophilacandidate genesreproductive barrierslocal adaptationFly
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On the power and the systematic biases of the detection of chromosomal inversions by paired-end genome sequencing

2013

One of the most used techniques to study structural variation at a genome level is paired-end mapping (PEM). PEM has the advantage of being able to detect balanced events, such as inversions and translocations. However, inversions are still quite difficult to predict reliably, especially from high-throughput sequencing data. We simulated realistic PEM experiments with different combinations of read and library fragment lengths, including sequencing errors and meaningful base-qualities, to quantify and track down the origin of false positives and negatives along sequencing, mapping, and downstream analysis. We show that PEM is very appropriate to detect a wide range of inversions, even with …

Evolutionary GeneticsChromosome Structure and Functionlcsh:MedicineComputational biologyBiologyGenomeDNA sequencingStructural variation03 medical and health sciences0302 clinical medicineGenetic MutationGeneticsFalse positive paradoxHumansComputer SimulationFalse Positive ReactionsGenomic libraryGenome Sequencinglcsh:ScienceBiologyGenome EvolutionFalse Negative Reactions030304 developmental biologyChromosomal inversionSegmental duplicationGeneticsEvolutionary Biology0303 health sciencesMultidisciplinaryChromosome Biologylcsh:RBreakpointMutation TypesComputational BiologyChromosome MappingGenomic EvolutionGenomicsSequence Analysis DNAComparative GenomicsChromosomes Human Pair 1Chromosome Inversionlcsh:QStructural GenomicsSequence AnalysisAlgorithms030217 neurology & neurosurgeryResearch Article
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The copy number variant involving part of the α7 nicotinic receptor gene contains a polymorphic inversion.

2008

The alpha7 nicotinic acetylcholine receptor gene (CHRNA7) is located at 15q13-q14 in a region that is strongly linked to the P50 sensory gating deficit, an endophenotype of schizophrenia and bipolar disorder. Part of the gene is a copy number variant, due to a duplication of exons 5-10 and 3' sequence in CHRFAM7A, which is present in many but not all humans. Maps of this region show that the two genes are in opposite orientation in the individual mainly represented in the public access human DNA sequence database (Build 36), suggesting that an inversion had occurred since the duplication. We have used fluorescent in situ hybridization to investigate this putative inversion. Analysis of inte…

Genetic MarkersMaleLinkage disequilibriumBipolar DisorderPan troglodytesalpha7 Nicotinic Acetylcholine ReceptorReceptors NicotinicLinkage DisequilibriumExonGene duplicationGeneticsSettore MED/48 -Scienze Infermierist. e Tecn. Neuro-Psichiatriche e Riabilitat.AnimalsHumansCopy-number variationGeneSettore MED/25 - PsichiatriaGenetics (clinical)Sequence DeletionSegmental duplicationChromosomal inversionGeneticsChromosomes Human Pair 15Polymorphism GeneticBase SequencebiologyCHRNA7Chromosome Mappinginversion schizophrenia bipolar disorder 15q13–q14 CHRNA7 segmental duplicationChromosome InversionSchizophreniabiology.proteinFemale
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Plasticity of human chromosome 3 during primate evolution.

2004

Comparative mapping of more than 100 region-specific clones from human chromosome 3 in Bornean and Sumatran orangutans, siamang gibbon, and Old and New World monkeys allowed us to reconstruct ancestral simian and hominoid chromosomes. A single paracentric inversion derives chromosome 1 of the Old World monkey Presbytis cristata from the simian ancestor. In the New World monkey Callithrix geoffroyi and siamang, the ancestor diverged on multiple chromosomes, through utilizing different breakpoints. One shared and two independent inversions derive Bornean orangutan 2 and human 3, implying that neither Bornean orangutans nor humans have conserved the ancestral chromosome form. The inversions, f…

GeneticsGene RearrangementLineage (genetic)ChromosomeChromosome MappingChromosome BreakageGene rearrangementHaplorhiniBiologySyntenyEvolution MolecularChromosome 3Evolutionary biologyGene DuplicationGeneticsAnimalsHumansChromosomes ArtificialChromosomes Human Pair 3Chromosome 21Chromosome 12PhylogenySyntenyChromosomal inversionGenomics
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Inherited pericentric inversion of human chromosome 5.

1983

Une inversion pericentrique heterozygote du chromosome 5 a ete decouverte dans les cellules de la moelle osseuse et dans les lymphocytes peripheriques stimules par le phytohemagglutinine d'une femme de 75 ans atteinte de myelofibrose et de metaplasie myeloide. L'inversion etait presente dans 100% des metaphases etudiees. Les points de cessure du chromosome 5 etaient localises en k15 et q10. Une etude de la famille est presentee

GeneticsHeterozygoteChromosomeHeterozygote advantageBiologyHuman geneticsPrimary MyelofibrosisChromosome InversionGeneticsHumansFemaleChromosomes Human 4-5Genetics (clinical)Chromosomal inversionAgedHuman genetics
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Healthy 12-year-old boy with mosaic inv dup(15)(q13)

2006

GeneticsdupGeneticsKaryotypeBiologyGenetics (clinical)MosaicChromosomal inversionAmerican Journal of Medical Genetics Part A
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Brief communication. Karyotype analysis, banding, and fluorescent in situ hybridization in the scarab beetle Gymnopleurus sturmi McLeay (Coleoptera S…

2000

Conventional staining, differential banding, and in situ hybridization with both ribosomal and telomeric probes to mitotic chromosomes of Gymnopleurus sturmi (Scarabaeoidea : Scarabaeidae) are described. The karyotype is distinguished by a pericentric inversion polymorphism in chromosome 3, which is either acrocentric or subtelocentric. Silver staining (Ag-NOR) and chromomycin A3 (CMA3), failed to study the detection of nucleolar organizer regions (NORs), due to the extensive silver and CMA3 stainability of all GC-rich heterochromatin. Fluorescent in situ hybridization (FISH) using a Paracentrotus lividus (Echinodermata) rDNA probe mapped the ribosomal RNA genes (rDNA). FISH with the all-hu…

Geneticsmedicine.medical_specialtyHeterochromatinCytogeneticsKaryotypeBiologyRibosomal RNAchemistry.chemical_compoundchemistryCentromereGeneticsmedicineChromomycin A3Nucleolus organizer regionMolecular BiologyGenetics (clinical)BiotechnologyChromosomal inversionJournal of Heredity
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PATTERNS OF PUFFING ACTIVITY AND CHROMOSOMAL POLYMORPHISM IN DROSOPHILA SUBOBSCURA . IV. EFFECT OF INVERSIONS ON GENE EXPRESSION

1988

We have observed that, contrary to a common assumption, the puffing patterns manifest in the salivary chromosomes of Drosophila subobscura are modified by chromosomal inversions as well as by genic content. An inversion effect is apparent in the E and A chromosomes of five strains coming from four different natural populations. An effect due to the geographical location of the populations is also detected in the J and O chromosomes. The chromosomal and geographic effects are distinguishable but not contradictory. Indeed, a statistical test using the DK2 coefficient of distance shows that, for a given chromosomal arrangement, strains of different geographic origin exhibit puffing patterns si…

Geneticsmedicine.medical_specialtyPolytene chromosomeCytogeneticsChromosomeBiologybiology.organism_classificationDrosophila subobscuraGene mappingDrosophilidaeGeneticsmedicineChromosomal polymorphismGeneral Agricultural and Biological SciencesEcology Evolution Behavior and SystematicsChromosomal inversionEvolution
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Genomic structure and paralogous regions of the inversion breakpoint occurring between human chromosome 3p12.3 and orangutan chromosome 2.

2003

Intrachromosomal duplications play a significant role in human genome pathology and evolution. To better understand the molecular basis of evolutionary chromosome rearrangements, we performed molecular cytogenetic and sequence analyses of the breakpoint region that distinguishes human chromosome 3p12.3 and orangutan chromosome 2. FISH with region-specific BAC clones demonstrated that the breakpoint-flanking sequences are duplicated intrachromosomally on orangutan 2 and human 3q21 as well as at many pericentromeric and subtelomeric sites throughout the genomes. Breakage and rearrangement of the human 3p12.3-homologous region in the orangutan lineage were associated with a partial loss of dup…

Genome evolutionHerpesvirus 4 HumanPan troglodytesBiologyHybrid CellsChimpanzee genome projectEvolution MolecularContig MappingChromosome 19Pongo pygmaeusGeneticsAnimalsHumansLymphocytesMolecular BiologyGenetics (clinical)In Situ Hybridization FluorescenceChromosomal inversionCell Line TransformedSequence DeletionGeneticsHuman evolutionary geneticsCercopithecidaeChromosome BreakageGenome projectChromosomes MammalianChromosome InversionChromosomes Human Pair 3Chromosome breakageChromosome 21Cytogenetic and genome research
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Chromosomal polymorphism and patterns of viability in natural populations of Drosophila melanogaster from cellar and vineyard.

1991

Two neighbouring natural populations of Drosophila melanogaster have been analysed, one from a cellar habitat and the other from a vineyard outside. An extensive study of inversion polymorphism in the two populations has been carried out. Furthermore, the relationship between inversion polymorphism and the viability of the second chromosome has been studied. The data regarding the total frequency of inversion-carrying chromosomes indicate a lower frequency in the cellar population than in the vineyard population. Some possibilities that could explain the behaviour of the chromosomes from the cellar in relation to the peculiar environment of this habitat are discussed. New endemic inversions…

Malemedicine.medical_specialtyHeterozygotePopulationPopulation geneticsBiologyVineyardGene FrequencyGeneticsmedicineChromosomal polymorphismAnimalseducationAllele frequencyGenetics (clinical)Crosses GeneticChromosomal inversionGeneticseducation.field_of_studyAnalysis of VariancePolymorphism GeneticHomozygoteCytogeneticsKaryotypeDrosophila melanogasterEvolutionary biologySpainChromosome InversionFemaleHeredity
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