Search results for " Insertional"

showing 10 items of 35 documents

Deficiency of the Cockayne syndrome B (CSB) gene aggravates the genomic instability caused by endogenous oxidative DNA base damage in mice.

2007

The Cockayne syndrome B protein (CSB) has long been known to be involved in the repair of DNA modifications that block the RNA polymerase in transcribed DNA sequences (transcription-coupled repair). Recent evidence suggests that it also has a more general role in the repair of oxidative DNA base modifications such as 7,8-dihydro-8-oxo-2'-deoxyguanosine (8-oxoG). In mammalian cells, 8-oxoG is a substrate of the repair glycosylase OGG1. Mice without this enzyme accumulate 8-oxoG in the genome and have elevated spontaneous mutation rates. To elucidate the role of CSB in the prevention of mutations by oxidative DNA base damage, we have generated mice that are deficient in Csb or Ogg1 or both ge…

Genome instabilityMaleCancer ResearchDNA repairDNA damageMice Inbred StrainsMice TransgenicBiologymedicine.disease_causeCockayne syndromeGenomic InstabilityDNA GlycosylasesMiceBacterial ProteinsGeneticsmedicineLac RepressorsAnimalsPoint MutationPoly-ADP-Ribose Binding ProteinsMolecular BiologyGeneSequence DeletionGeneticsMice KnockoutMutationPoint mutationmedicine.diseaseMolecular biologyRepressor ProteinsMutagenesis InsertionalOxidative StressDNA Repair EnzymesLiverDNA glycosylaseMutationFemaleDNA DamageOncogene
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Perlecan Maintains the Integrity of Cartilage and Some Basement Membranes

1999

Perlecan is a heparan sulfate proteoglycan that is expressed in all basement membranes (BMs), in cartilage, and several other mesenchymal tissues during development. Perlecan binds growth factors and interacts with various extracellular matrix proteins and cell adhesion molecules. Homozygous mice with a null mutation in the perlecan gene exhibit normal formation of BMs. However, BMs deteriorate in regions with increased mechanical stress such as the contracting myocardium and the expanding brain vesicles showing that perlecan is crucial for maintaining BM integrity. As a consequence, small clefts are formed in the cardiac muscle leading to blood leakage into the pericardial cavity and an ar…

Heart Defects Congenitalcardiac muscleMesenchymeSchwartz–Jampel syndromeRestriction MappingPerlecanBasement MembraneExtracellular matrixMiceMice CongenicchondrodysplasiaCalcification PhysiologicexencephalyLamininmedicineAnimalsNeural Tube DefectsCells CulturedBasement membranebiologyCartilageOssification HeterotopicHomozygoteCell Biologymedicine.diseaseMice Mutant StrainsBasement membrane assemblyCell biologyperlecanMutagenesis Insertionalmedicine.anatomical_structureCartilageBiochemistryGene Targetingbiology.proteinOriginal ArticleGenes LethalProteoglycansCollagenHeparitin SulfateExostoses Multiple HereditaryHeparan Sulfate ProteoglycansThe Journal of Cell Biology
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Fumarate regulation of gene expression in Escherichia coli by the DcuSR (dcuSR genes) two-component regulatory system.

1998

ABSTRACT In Escherichia coli the genes encoding the anaerobic fumarate respiratory system are transcriptionally regulated by C 4 -dicarboxylates. The regulation is effected by a two-component regulatory system, DcuSR, consisting of a sensory histidine kinase (DcuS) and a response regulator (DcuR). DcuS and DcuR are encoded by the dcuSR genes (previously yjdHG ) at 93.7 min on the calculated E. coli map. Inactivation of the dcuR and dcuS genes caused the loss of C 4 -dicarboxylate-stimulated synthesis of fumarate reductase ( frdABCD genes) and of the anaerobic fumarate-succinate antiporter DcuB ( dcuB gene). DcuS is predicted to contain a large periplasmic domain as the supposed site for C 4…

Histidine KinaseGenetics and Molecular Biologymedicine.disease_causeMicrobiologyAntiportersBacterial ProteinsFumaratesmedicineEscherichia coliDicarboxylic AcidsMolecular BiologyEscherichia coliRegulation of gene expressionDicarboxylic Acid TransportersbiologySuccinate dehydrogenaseEscherichia coli ProteinsHistidine kinaseMembrane ProteinsPeriplasmic spaceGene Expression Regulation BacterialFumarate reductaseTwo-component regulatory systemDNA-Binding ProteinsSuccinate DehydrogenaseResponse regulatorMutagenesis InsertionalBiochemistryGenes Bacterialbiology.proteinCarrier ProteinsProtein KinasesSignal TransductionTranscription FactorsJournal of bacteriology
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Optimized recombinant dense bodies of human cytomegalovirus efficiently prime virus specific lymphocytes and neutralizing antibodies without the addi…

2010

Control of human cytomegalovirus (HCMV) infection correlates with the reconstitution of antiviral T lymphocytes in haematopoietic stem cell transplant recipients. A vaccine to foster this reconstitution and to ameliorate the severe consequences of HCMV reactivation is yet unavailable. This work focused on providing a rationale for the amendment of the yields and the antigenic composition of a vaccine, based on subviral dense bodies (DB) of HCMV. Modified DB were generated that contained the HLA-A2 presented IE1 model peptide TMYGGISLL, integrated at different positions in the major DB protein pp65. Insertion at position W175 of pp65 allowed efficient formation of recDB in the cytoplasm of i…

Human cytomegalovirusCD4-Positive T-Lymphocytesvirusesmedicine.medical_treatmentCongenital cytomegalovirus infectionCytomegalovirusMice TransgenicBiologyCD8-Positive T-LymphocytesAntibodies ViralVirusCell LineViral Matrix ProteinsCytomegalovirus VaccinesMiceAntigenmedicineCytotoxic T cellAnimalsHumansNeutralizing antibodyAntigens ViralMice Inbred BALB CGeneral VeterinaryGeneral Immunology and MicrobiologyPublic Health Environmental and Occupational Healthvirus diseasesmedicine.diseasePhosphoproteinsVirologyAntibodies NeutralizingMutagenesis InsertionalInfectious DiseasesCytomegalovirus InfectionsDNA Viralbiology.proteinMolecular MedicineAdjuvantCD8Vaccine
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Characterization of a new, nonpathogenic mutant of Botrytis cinerea with impaired plant colonization capacity.

2006

International audience; Botrytis cinerea is a necrotrophic pathogen that attacks more than 200 plant species.Here, the nonpathogenic mutant A336, obtained via insertional mutagenesis, was characterized.Mutant A336 was nonpathogenic on leaves and fruits, on intact and wounded tissue, while still able to penetrate the host plant. It grew normally in vitro on rich media but its conidiation pattern was altered. The mutant did not produce oxalic acid and exhibited a modified regulation of the production of some secreted proteins (acid protease 1 and endopolygalacturonase 1). Culture filtrates of the mutant triggered an important oxidative burst in grapevine ( Vitis vinifera ) suspension cells, a…

Hypersensitive responsehypersensitive responsePhysiology[SDV]Life Sciences [q-bio]colonisationMutantArabidopsisConidiationPlant ScienceMicrobiologyInsertional mutagenesisFungal Proteins03 medical and health sciencesPlasmidGene Expression Regulation FungalOnionsBotrytis cinerea; endopolygalacturonase BcPG1; hypersensitive responseVitismutantoxidative burstPathogenGene030304 developmental biologyBotrytis cinereaPhaseolus0303 health sciencesoxalateendopolygalacturonase BcPG1biology030306 microbiologyOxalic Acidfungifood and beveragesHydrogen-Ion Concentrationbiology.organism_classificationImmunity Innatenonpathogenic mutantEnzymesPlant LeavesMutagenesis Insertionalnonaspartyl acid protease ACP1Mutationbotrytis cinerea;endopolygalacturonase BcPG1;hypersensitive response;nonaspartyl acid protease ACP1;nonpathogenic mutant;oxalate;oxidative burstBotrytisbotrytis cinereaReactive Oxygen SpeciesThe New phytologist
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Cryptic Insertions Of The Immunoglobulin Light Chain Enhancer Region Near CCND1 In T(11;14)-Negative Mantle Cell Lymphoma

2019

Cyclin D1+ mantle cell lymphoma (MCL) is molecularly characterized by the t(11;14)(q13;q32) or rearrangements of CCND1 gene with the immunoglobulin (IG) light chains.1,2 Most MCL can be diagnosed based on the characteristic pathologic features and cyclin D1 expression without the need for demonstrating the genetic translocation. However, in cases with atypical morphologic or phenotypic features other B-cell neoplasms that sometimes also have cyclin D1 positivity may be in the differential diagnosis.1 In these situations the detection of the CCND1 rearrangements may assist in the diagnosis since most other lymphomas do not carry translocations of the gene.3-7 A subset of plasma cell myelomas…

MaleLimfomesHematologyLymphoma Mantle-CellMiddle AgedTranslocation GeneticMalaltia de Hodgkin03 medical and health sciencesMutagenesis Insertional0302 clinical medicinePolitical sciencehemic and lymphatic diseasesHumansCyclin D1Immunoglobulin Light ChainsLymphomasHodgkin's diseaseOnline Only ArticlesImmunoglobulinesHumanities030215 immunologyAged
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Mitochondrial DNA sequences are present inside nuclear DNA in rat tissues and increase with age

2009

Abstract Mitochondrial DNA (mtDNA) mutations increase with age. However, the number of cells with predominantly mutated mtDNA is small in old animals. Here a new hypothesis is proposed: mtDNA fragments may insert into nuclear DNA contributing to aging and related diseases by alterations in the nucleus. Real-time PCR quantification shows that sequences of cytochrome oxidase III and 16S rRNA from mtDNA are present in highly purified nuclei from liver and brain in young and old rats. The sequences of these insertions revealed that they contain single nucleotide polymorphisms identical to those present in mtDNA of the same animal. Interestingly, the amount of mitochondrial sequences in nuclear …

MaleMitochondrial DNASequence analysisIn situ hybridizationMitochondrionBiologyDNA MitochondrialPolymorphism Single NucleotideChromosomesElectron Transport Complex IVchemistry.chemical_compoundRNA Ribosomal 16SAnimalsCytochrome c oxidaseRats WistarMolecular BiologyIn Situ HybridizationmtDNA control regionAge FactorsBrainSequence Analysis DNACell BiologyMolecular biologyRatsNuclear DNAMutagenesis InsertionalLiverchemistrybiology.proteinMolecular MedicineDNAMitochondrion
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Characterization of aCandida albicansgene encoding a putative transcriptional factor required for cell wall integrity

2003

After screening a Candida albicans genome database the product of an open reading frame (ORF) (CA2880) with 49% homology to the product of Saccharomyces cerevisiae YPL133c, a putative transcriptional factor, was identified. The disruption of the C. albicans gene leads to a major sensitivity to calcofluor white and Congo red, a minor sensitivity to sodium dodecyl sulfate, a major resistance to zymolyase, and an alteration of the chemical composition of the cell wall. For these reasons we called it CaCWT1 (for C. albicans cell wall transcription factor). CaCwt1p contains a putative Zn(II) Cys(6) DNA binding domain characteristic of some transcriptional factors and a PAS domain. The CaCWT1 gen…

Models MolecularTranscription GeneticGenes FungalMolecular Sequence DataSaccharomyces cerevisiaeSequence HomologyMicrobiologyFungal ProteinsCell WallPAS domainGene Expression Regulation FungalCandida albicansGenes RegulatorGeneticsAmino Acid SequenceColoring AgentsCandida albicansMolecular BiologyGeneTranscription factorbiologyReverse Transcriptase Polymerase Chain ReactionGlucan Endo-13-beta-D-GlucosidaseComputational BiologySodium Dodecyl SulfateDNA-binding domainbiology.organism_classificationMolecular biologyCorpus albicansDNA-Binding ProteinsMutagenesis InsertionalOpen reading frameGenome FungalGene DeletionTranscription FactorsFEMS Microbiology Letters
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Differential impact of allelic ratio and insertion site in FLT3-ITD-positive AML with respect to allogeneic transplantation.

2014

The objective was to evaluate the prognostic and predictive impact of allelic ratio and insertion site (IS) of internal tandem duplications (ITDs), as well as concurrent gene mutations, with regard to postremission therapy in 323 patients with FLT3-ITD-positive acute myeloid leukemia (AML). Increasing FLT3-ITD allelic ratio (P = .004) and IS in the tyrosine kinase domain 1 (TKD1, P = .06) were associated with low complete remission (CR) rates. After postremission therapy including intensive chemotherapy (n = 121) or autologous hematopoietic stem cell transplantation (HSCT, n = 17), an allelic ratio ≥ 0.51 was associated with an unfavorable relapse-free (RFS, P = .0008) and overall survival …

OncologyAdultmedicine.medical_specialtyAllogeneic transplantationMyeloidAdolescentmedicine.medical_treatmentImmunologyDNA Mutational AnalysisHematopoietic stem cell transplantationBiologyGene mutationBiochemistryYoung AdultGene FrequencyInternal medicineGene DuplicationGene duplicationmedicineHumansTransplantation HomologousAllelesHematopoietic Stem Cell TransplantationMyeloid leukemiaCell BiologyHematologyMiddle Agedmedicine.diseaseProtein Structure TertiaryTransplantationLeukemiaLeukemia Myeloid AcuteMutagenesis Insertionalmedicine.anatomical_structureTreatment Outcomefms-Like Tyrosine Kinase 3Tandem Repeat SequencesImmunologyBlood
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The Arabidopsis COPT6 Transport Protein Functions in Copper Distribution Under Copper-Deficient Conditions

2013

Copper (Cu), an essential redox active cofactor, participates in fundamental biological processes, but it becomes highly cytotoxic when present in excess. Therefore, living organisms have established suitable mechanisms to balance cellular and systemic Cu levels. An important strategy to maintain Cu homeostasis consists of regulating uptake and mobilization via the conserved family of CTR/COPT Cu transport proteins. In the model plant Arabidopsis thaliana, COPT1 protein mediates root Cu acquisition, whereas COPT5 protein functions in Cu mobilization from intracellular storage organelles. The function of these transporters becomes critical when environmental Cu bioavailability diminishes. Ho…

PhysiologyMolecular Sequence DataSaccharomyces cerevisiaeMutantArabidopsisSaccharomyces cerevisiaePlant SciencePlant RootsCofactorCell membraneGene Expression Regulation PlantArabidopsisOrganellemedicineHomeostasisAmino Acid SequenceSLC31 ProteinsbiologyArabidopsis ProteinsMembrane transport proteinCell MembraneGenetic Complementation TestMembrane Transport ProteinsBiological TransportCell BiologyGeneral MedicinePlants Genetically Modifiedbiology.organism_classificationUp-RegulationTransport proteinCell biologyPlant LeavesMutagenesis Insertionalmedicine.anatomical_structureBiochemistrySeedsbiology.proteinPlant Vascular BundleSequence AlignmentCopperPlant ShootsPlant and Cell Physiology
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