Search results for "Chromosomes"

showing 10 items of 509 documents

Development-dependent changes in the tight DNA-protein complexes of barley on chromosome and gene level

2008

Abstract Background The tightly bound to DNA proteins (TBPs) is a protein group that remains attached to DNA with covalent or non-covalent bonds after its deproteinisation. The functional role of this group is as yet not completely understood. The main goal of this study was to evaluate tissue specific changes in the TBP distribution in barley genes and chromosomes in different phases of shoot and seed development. We have: 1. investigated the TBP distribution along Amy32b and Bmy1 genes encoding low pI α-amylase A and endosperm specific β-amylase correspondingly using oligonucleotide DNA arrays; 2. characterized the polypeptide spectrum of TBP and proteins with affinity to TBP-associated D…

DNA PlantTranscription GeneticPlant ScienceBiologyGenes PlantChromosomes Plantchemistry.chemical_compoundGene Expression Regulation Plantlcsh:BotanyGene expressionPromoter Regions GeneticGeneOligonucleotide Array Sequence AnalysisPlant ProteinsOligonucleotideIntronGene Expression Regulation Developmentalfood and beveragesChromosomeHordeumPromoterExonsNuclear matrixMolecular biologyIntronslcsh:QK1-989DNA-Binding ProteinschemistryBiochemistrySeedsPlant ShootsDNAMicrosatellite RepeatsResearch ArticleBMC Plant Biology
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Chromosomal localization and molecular characterization of three different 5S ribosomal DNA clusters in the sea urchin Paracentrotus lividus

2007

In this paper the chromosomal localization and molecular cloning and characterization of three 5S rDNA clusters of 700 bp (base pairs), 900 bp, and 950 bp in the sea urchin Paracentrotus lividus are reported. Southern blot hybridization demonstrated the existence of three 5S rDNA repeats of differing length in the P. lividus genome. Fluorescence in situ hybridization analysis, performed in parallel on both haploid and diploid metaphases and interphase nuclei using different 5S rDNA units as probes, localized these 5S rDNA clusters in 3 different pairs of P. lividus chromosomes. This is the first complete gene mapping not only in a sea urchin but also in the phylum of echinoderms as a whole…

DNA RibosomalChromosomesParacentrotus lividusGene mappingbiology.animalGeneticsmedicineAnimals5S rDNA Paracentrotus lividusCloning MolecularMolecular BiologySea urchinRibosomal DNAIn Situ Hybridization FluorescenceSouthern blotGeneticsbiologymedicine.diagnostic_testRNA Ribosomal 5SChromosome MappingGeneral MedicineRibosomal RNAbiology.organism_classificationMolecular biologySettore BIO/18 - GeneticaParacentrotusPloidyBiotechnologyFluorescence in situ hybridizationGenome
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Mid-region parathyroid hormone-related protein (PTHrP) and gene expression of MDA-MB231 breast cancer cells.

2007

Abstract We have previously shown that PTHrP(38–94) amide restrains growth and invasion in vitro, causes striking toxicity and accelerates death of some breast cancer cell lines, the most responsive being MDA-MB231, for which tumorigenesis was also attenuated in vivo. We have also demonstrated that mid-region PTHrP gains access to the nuclear compartment of these cells and displays DNA-binding properties in vitro by recognizing targets in both cellular chromatin and isolated oligonucleotides. Here, we examined whether PTHrP(38–94) amide was able to modulate gene expression of MDA-MB231 cells, employing a combination of conventional, differential display and semi-quantitative multiplex PCR t…

Differential displayParathyroid hormone-related proteinChemistryClinical BiochemistryMolecular Sequence DataParathyroid Hormone-Related ProteinBreast Neoplasmsmedicine.disease_causeBiochemistryIn vitroChromatinGene Expression Regulation NeoplasticCell Line TumorGene expressionmedicineCancer researchCytotoxic T cellHumansCarcinogenesisMolecular BiologyReprogrammingBiomarkersChromosomes Human Pair 8Biological chemistry
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Alterations in the organization of the isocortical layer I in trisomy 22.

1999

The isocortical layer I of human fetal brains obtained from different cases of chromosomal abnormalities (trisomy 18, 21, 22) and controls without pathological disturbances were investigated histologically and immunohistochemically by using the antibodies SMI 311, SMI 35 and SMI 81 (SNAP 25) as well as antibodies against GAP 43 and calretinin. In cases of trisomy 22 the Cajal-Retzius cells in Nissl-sections and in SMI 311-immunopreparations do not reveal any alterations regarding their location or morphology. However, the axonal plexus, selectively labelled with SMI 35, normally located in layer Ib, is malpositioned in Ia. Likewise, SNAP 25- and GAP 43-immunoreactive structures, which were …

Down syndromePathologymedicine.medical_specialtyChromosomes Human Pair 21Chromosomes Human Pair 22SynaptogenesisChromosome DisordersNerve Tissue ProteinsTrisomyTrisomy 22FetusGAP-43 ProteinS100 Calcium Binding Protein GmedicineHumansGap-43 proteinChromosome AberrationsPlexusbiologyGeneral NeuroscienceSnapBrainGeneral MedicineAnatomymedicine.diseasenervous systemCalbindin 2biology.proteinCalretininDown SyndromeTrisomyChromosomes Human Pair 18Neuroscience research
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Genome-wide association study identifies five susceptibility loci for follicular lymphoma outside the HLA region.

2014

Genome-wide association studies (GWASs) of follicular lymphoma (FL) have previously identified human leukocyte antigen (HLA) gene variants. To identify additional FL susceptibility loci, we conducted a large-scale two-stage GWAS in 4,523 case subjects and 13,344 control subjects of European ancestry. Five non-HLA loci were associated with FL risk: 11q23.3 (rs4938573, p = 5.79 × 10 -20) near CXCR5; 11q24.3 (rs4937362, p = 6.76 × 10 -11) near ETS1; 3q28 (rs6444305, p = 1.10 × 10 -10) in LPP; 18q21.33 (rs17749561, p = 8.28 × 10 -10) near BCL2; and 8q24.21 (rs13254990, p = 1.06 × 10 -8) near PVT1. In an analysis of the HLA region, we identified four linked HLA-DRß1 multiallelic amino acids at p…

EXPRESSIONFollicular lymphomaSingle-nucleotide polymorphismGenome-wide association studyHuman leukocyte antigenBiologyVARIANTSPolymorphism Single Nucleotidefollicular lymphomaHLA AntigensPolymorphism (computer science)ReportCLASS-IRESOURCEBiomarkers TumorGeneticsmedicineChromosomes HumanHumansTOOLGenetic Predisposition to DiseaseGenetics(clinical)PEPTIDEAlleleLymphoma FollicularAllelesGenetics (clinical)Genetic associationSNPSGeneticsRISKGenome-wide associationHaplotypemedicine.diseaseHLAHaplotypesCase-Control StudiesUNIVERSITYSETGenome-Wide Association Study
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Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12

2012

BACKGROUND: The exstrophy-epispadias complex (BEEC) is a urogenital birth defect of varying severity. The causes of the BEEC are likely to be heterogeneous, with individual environmental or genetic risk factors still being largely unknown. In this study, we aimed to identify de novo causative copy number variations (CNVs) that contribute to the BEEC. METHODS: Array-based molecular karyotyping was performed to screen 110 individuals with BEEC. Promising CNVs were tested for de novo occurrence by investigating parental DNAs. Genes located in regions of rearrangements were prioritized through expression analysis in mice to be sequenced in the complete cohort, to identify high-penetrance mutati…

EmbryologyDNA Copy Number VariationsSequence analysisKaryotypeUrinary BladderGene DosageMedizinBiologyGene dosageMicesymbols.namesakeGene DuplicationChromosome DuplicationGene duplicationAnimalsHumansCoding regionCopy-number variationGeneSanger sequencingGeneticsBase SequenceBladder ExstrophySequence Analysis DNAGeneral MedicinePediatrics Perinatology and Child HealthChromosomal regionsymbolsChromosomes Human Pair 19Developmental Biology
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Endoreduplication induced in cultured Chinese hamster cells by different anti-topoisomerase II chemicals. Evidence for the essential contribution of …

2004

With the ultimate purpose of testing the hypothesis that, as shown in yeast mutants, any malfunction of DNA topoisomerase II might result in aberrant mitosis due to defective chromosome segregation, we have chosen three chemicals of different nature, recently reported to catalytically inhibit the enzyme. The endpoint selected to assess any negative effect on the ability of topoisomerase II to properly carry out decatenation of fully replicated chromosomes in the G2/M phase of the cell cycle was the presence of metaphases showing diplochromosomes as a result of endoreduplication, i.e. two successive rounds of DNA replication without intervening mitosis. The anti-topoisomerase drugs selected …

Enzyme Inhibitors/pharmacologyCell CycleChromosomeCatalysisChromosomesCatalysiCell LineCricetulusDNA Topoisomerases Type IICricetinaeAnimalsTopoisomerase II InhibitorsDNA Topoisomerases Type II/metabolismEnzyme InhibitorsCell Cycle/geneticCricetulu
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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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Isolation and differential expression of two isoforms of the ROBO2/Robo2 axon guidance receptor gene in humans and mice.

2006

AbstractExpression of Robo receptor molecules is important for axon guidance across the midline of the mammalian central nervous system. Here we describe novel isoform a of human ROBO2, which is initially strongly expressed in the fetal human brain but thereafter only weakly expressed in adult brain and a few other tissues. The known isoform b of ROBO2 shows a more or less ubiquitous expression pattern, suggesting diverse functional roles. The genomic structure and distinct expression patterns of Robo2a and Robo2b have been conserved in the mouse, but in contrast to human ROBO2a mouse Robo2a is also abundant in adult brain. Exons 1 and 2 of human ROBO2a lie in an inherently unstable DNA seg…

Fetal brain developmentGene isoformSegmental duplicationMolecular Sequence DataBreak in syntenyBiologyLoss of heterozygosity03 medical and health sciencesMice0302 clinical medicineChromosome 3p12.3GeneticsAnimalsHumansProtein IsoformsAmino Acid SequenceReceptors ImmunologicGene030304 developmental biologySegmental duplicationSyntenyEvolutionary breakpointGenetics0303 health sciencesAxon guidanceChromosomeBrainGene Expression Regulation DevelopmentalROBO2ExonsChromosomes MammalianHuman genomeAxon guidanceChromosomes Human Pair 3030217 neurology & neurosurgeryGenomics
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Comparative analysis of DNA breakage, chromosomal aberrations and apoptosis induced by the anti-herpes purine nucleoside analogues aciclovir, gancicl…

2002

Nucleoside analogues have been used in antiviral therapy and suicide cancer gene therapy. Therefore, it is of importance to compare their potential cytotoxic and genotoxic action. Using metabolically competent CHO cells expressing the thymidine kinase gene of herpes simplex virus type 1 (CHO-HSVtk cells) as a model system, the induction of DNA breaks was compared with the induction of structural chromosomal aberrations and apoptosis/necrosis after exposure to the anti-herpes nucleoside analogues aciclovir (ACV), ganciclovir (GCV) and penciclovir (PCV). After continuous treatment of CHO-HSVtk cells with the drugs, LD(10) in a colony-forming assay was 50, 0.5 and 1 microM for ACV, GCV and PCV…

GanciclovirGuanineDNA damagevirusesHealth Toxicology and MutagenesisAcyclovirApoptosisCHO CellsBiologymedicine.disease_causeAntiviral AgentsThymidine KinaseChromosomesColony-Forming Units AssayNecrosisCricetulusCricetinaeGeneticsmedicineCytotoxic T cellAnimalsSimplexvirusAciclovirEnzyme InhibitorsMolecular BiologyGanciclovirChromosome AberrationsDNAMolecular biologyHerpes simplex virusApoptosisPenciclovirNucleosidemedicine.drugDNA DamageMutation research
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