Search results for "PROMOTER REGION"

showing 10 items of 443 documents

Somatic mutation profiles as molecular classifiers of ulcerative colitis-associated colorectal cancer.

2021

Ulcerative colitis increases colorectal cancer risk by mechanisms that remain incompletely understood. We approached this question by determining the genetic and epigenetic profiles of colitis-associated colorectal carcinomas (CA-CRC). The findings were compared to Lynch syndrome (LS), a different form of cancer predisposition that shares the importance of immunological factors in tumorigenesis. CA-CRCs (n=27) were investigated for microsatellite instability, CpG island methylator phenotype, and somatic mutations of 999 cancer-relevant genes ("Pan-cancer" panel). A subpanel of "Pan-cancer" design (578 genes) was used for LS colorectal tumors (n=28). Mutational loads and signatures stratifie…

MaleCancer ResearchColorectal cancermedicine.disease_cause0302 clinical medicinesomatic mutationPromoter Regions Genetictulehdukselliset suolistosairaudetMiddle AgedLynch syndrome3. Good healthOncology030220 oncology & carcinogenesissyöpätauditDNA mismatch repairFemaleMicrosatellite InstabilityMutL Protein Homolog 1Adult3122 Cancerscolorectal cancersuolistosyövätBiologymikrosatelliititMLH103 medical and health sciencesGermline mutationmedicineHumansLynchin oireyhtymäulcerative colitisDNA-analyysiCpG Island Methylator PhenotypeMicrosatellite instabilitySequence Analysis DNADNA Methylationmedicine.diseaseColorectal Neoplasms Hereditary NonpolyposisLynch syndromeUlcerative colitisMutationCancer researchmicrosatellite instabilityColitis UlcerativeCpG IslandsmutaatiotColitis-Associated NeoplasmsTumor Suppressor Protein p53CarcinogenesisInternational journal of cancerREFERENCES
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Cyclic AMP-induced Chromatin Changes Support the NFATc-mediated Recruitment of GATA-3 to the Interleukin 5 Promoter

2008

Elevated intracellular cyclic AMP levels, which suppress the proliferation of naive T cells and type 1 T helper (Th1) cells are a property of T helper 2 (Th2) cells and regulatory T cells. While cyclic AMP signals interfere with the IL-2 promoter induction, they support the induction of Th2-type genes, in particular of il-5 gene. We show here that cyclic AMP signals support the generation of three inducible DNase I hypersensitive chromatin sites over the il-5 locus, including its promoter region. In addition, cyclic AMP signals enhance histone H3 acetylation at the IL-5 promoter and the concerted binding of GATA-3 and NFATc to the promoter. This is facilitated by direct protein-protein inte…

Quantitative Trait LociGATA3 Transcription FactorBiologyBiochemistryCell LineHistonesMiceTh2 CellsCyclic AMPTranscriptional regulationAnimalsHumansTranscription Chromatin and EpigeneticsPromoter Regions GeneticHistone H3 acetylationMolecular BiologyInterleukin 5Cell ProliferationMice Inbred BALB CNFATC Transcription FactorsEffectorLymphokineAcetylationZinc FingersPromoterCell BiologyDNA-binding domainTh1 CellsChromatin Assembly and DisassemblyMolecular biologyChromatinProtein Structure TertiaryChromatinGene Expression RegulationInterleukin-2Interleukin-5Signal TransductionJournal of Biological Chemistry
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Search for variants of the gene-promoter and the potential phosphotyrosine encoding sequence of the insulin receptor substrate-2 gene: evaluation of …

1999

Aims/hypothesis. The aim of this study was to screen part of the putative promoter sequence in addition to 14 potential phosphotyrosine residues of human IRS-2 for genetic variability which might cause changes in protein expression or function. Furthermore, the potential impact on insulin secretion and sensitivity of a previously identified IRS-2 variant (Gly1057Asp) was analysed Methods. The screenings were carried out by the SSCP-heteroduplex technique on DNA from Type II (non-insulin-dependent) diabetic patients. The impact of the Gly1057Asp variant was analysed in four glucose-tolerant Scandinavian study groups. Results. The results showed no nucleotide substitutions in the promoter seq…

AdultMalemedicine.medical_specialtyAdolescentInsulin Receptor Substrate ProteinsEndocrinology Diabetes and Metabolismmedicine.medical_treatmentMolecular Sequence Datamedicine.disease_causeGene FrequencyTwo-Hybrid System TechniquesInternal medicineDiabetes mellitusInsulin SecretionInternal MedicinemedicineHumansInsulinGenetic TestingProspective StudiesPhosphotyrosinePromoter Regions GeneticPolymorphism Single-Stranded ConformationalPancreatic hormoneAgedMutationGlucose tolerance testBase Sequencebiologymedicine.diagnostic_testGenetic Carrier ScreeningInsulinIntracellular Signaling Peptides and ProteinsGlucose Tolerance TestMiddle AgedPhosphoproteinsmedicine.diseaseIRS2PedigreeInsulin receptorEndocrinologyAmino Acid SubstitutionDiabetes Mellitus Type 2Insulin Receptor Substrate Proteinsbiology.proteinDiabetologia
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The Wilms' tumor suppressor gene (wt1) product regulates Dax-1 gene expression during gonadal differentiation.

1999

Gonadal differentiation is dependent upon a molecular cascade responsible for ovarian or testicular development from the bipotential gonadal ridge. Genetic analysis has implicated a number of gene products essential for this process, which include Sry, WT1, SF-1, and DAX-1. We have sought to better define the role of WT1 in this process by identifying downstream targets of WT1 during normal gonadal development. We have noticed that in the developing murine gonadal ridge, wt1 expression precedes expression of Dax-1, a nuclear receptor gene. We document here that the spatial distribution profiles of both proteins in the developing gonad overlap. We also demonstrate that WT1 can activate the D…

Transcriptional Activationcongenital hereditary and neonatal diseases and abnormalitiesGenes Wilms TumorReceptors Retinoic AcidTATA boxMolecular Sequence DataMutagenesis (molecular biology technique)Biologyurologic and male genital diseasesResponse ElementsTransactivationMiceGene expressionAnimalsHumansGonadsPromoter Regions GeneticWT1 ProteinsMolecular BiologyGeneCell Growth and DevelopmentCell Line TransformedGonadal ridgeBase Sequenceurogenital systemDAX-1 Orphan Nuclear ReceptorfungiGene Expression Regulation DevelopmentalCell Biologyfemale genital diseases and pregnancy complicationsCell biologyDNA-Binding ProteinsRepressor ProteinsTestis determining factorNuclear receptorCOS CellsCancer researchTranscription FactorsMolecular and cellular biology
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The transcription factor ZEB1 (deltaEF1) promotes tumour cell dedifferentiation by repressing master regulators of epithelial polarity.

2007

Epithelial to mesenchymal transition (EMT) is implicated in the progression of primary tumours towards metastasis and is likely caused by a pathological activation of transcription factors regulating EMT in embryonic development. To analyse EMT-causing pathways in tumouri-genesis, we identified transcriptional targets of the E-cadherin repressor ZEB1 in invasive human cancer cells. We show that ZEB1 repressed multiple key determinants of epithelial differentiation and cell–cell adhesion, including the cell polarity genes Crumbs3, HUGL2 and Pals1-associated tight junction protein. ZEB1 associated with their endogenous promoters in vivo, and strongly repressed promotor activities in reporter …

AdultCancer ResearchChromatin ImmunoprecipitationCellular differentiationImmunoblottingDown-RegulationBreast NeoplasmsBiologymedicine.disease_causeEpitheliumArticleCell polarityGeneticsmedicineTumor Cells CulturedHumansNeoplasm InvasivenessEpithelial–mesenchymal transitionCell adhesionPromoter Regions GeneticMolecular BiologyTranscription factorEpithelial polarityAgedOligonucleotide Array Sequence AnalysisHomeodomain ProteinsMembrane GlycoproteinsReverse Transcriptase Polymerase Chain ReactionGene Expression ProfilingCell PolarityMembrane ProteinsZinc Finger E-box-Binding Homeobox 1Cell DifferentiationMiddle AgedCadherinsCytoskeletal ProteinsMicroscopy FluorescenceCancer cellColonic NeoplasmsCancer researchDisease ProgressionSnail Family Transcription FactorsCarcinogenesisNucleoside-Phosphate KinaseTranscription FactorsOncogene
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A multidimensional network approach reveals microRNAs as determinants of the mesenchymal colorectal cancer subtype

2016

Colorectal cancer (CRC) is a heterogeneous disease posing a challenge for accurate classification and treatment of this malignancy. There is no common genetic molecular feature that would allow for the identification of patients at risk for developing recurrences and thus selecting patients who would benefit from more stringent therapies still poses a major clinical challenge. Recently, an international multicenter consortium (CRC Subtyping Consortium) was established aiming at the classification of CRC patients in biologically homogeneous CRC subtypes. Four consensus molecular subtypes (CMSs) were identified, of which the mesenchymal CMS4 presented with worse prognosis signifying the impor…

0301 basic medicineMaleCancer ResearchEpithelial-Mesenchymal TransitionGene regulatory networkComputational biologyBiologymedicine.disease_causeEpigenesis Genetic03 medical and health sciencesMolecular Biology; Cancer Research; GeneticsCell Line TumormicroRNAmedicineGeneticsHumansGene Regulatory NetworksEpigeneticsPromoter Regions GeneticMolecular BiologyRegulation of gene expressionCancerComputational BiologyDNA Methylationmedicine.diseasePrognosisSubtyping3. Good healthGene Expression Regulation NeoplasticMicroRNAs030104 developmental biologyPhenotypeMultigene FamilyDNA methylationCancer researchFemaleOriginal ArticleCarcinogenesisColorectal NeoplasmsTranscriptomeOncogene
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Fibrate induction of the adrenoleukodystrophy-related gene (ABCD2)

2001

X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disease due to a defect in the ABCD1 (ALD) gene. ABCD1, and the two close homologues ABCD2 (ALDR) and ABCD3 (PMP70), are genes encoding ATP-binding cassette half-transporters of the peroxisomal membrane. As overexpression of the ABCD2 or ABCD3 gene can reverse the biochemical phenotype of X-ALD (reduced beta-oxidation of very-long-chain fatty acids), pharmacological induction of these partially redundant genes may represent a therapeutic approach to X-ALD. We previously reported that the ABCD2 and ABCD3 genes could be strongly induced by fibrates, which are hypolipidaemic drugs and peroxisome-proliferators in rodents. We provide e…

MaleTranscription GeneticMolecular Sequence DataResponse elementReceptors Cytoplasmic and NuclearATP-binding cassette transporterATP Binding Cassette Transporter Subfamily DBiochemistryMiceFenofibrateABCD3Sequence Homology Nucleic AcidABCD2medicineAnimalsHumansRats WistarAdrenoleukodystrophyPromoter Regions GeneticGeneHypolipidemic AgentsMice KnockoutBase SequencebiologyDNATransfectionPeroxisomemedicine.diseaseMolecular biologyRatsGene Expression Regulationbiology.proteinATP-Binding Cassette TransportersAdrenoleukodystrophyTranscription FactorsEuropean Journal of Biochemistry
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Expression properties exhibit correlated patterns with the fate of duplicated genes, their divergence, and transcriptional plasticity in Saccharomyco…

2017

Gene duplication is an important source of novelties and genome complexity. What genes are preserved as duplicated through long evolutionary times can shape the evolution of innovations. Identifying factors that influence gene duplicability is therefore an important aim in evolutionary biology. Here, we show that in the yeast Saccharomyces cerevisiae the levels of gene expression correlate with gene duplicability, its divergence, and transcriptional plasticity. Genes that were highly expressed before duplication are more likely to be preserved as duplicates for longer evolutionary times and wider phylogenetic ranges than genes that were lowly expressed. Duplicates with higher expression lev…

0106 biological sciences0301 basic medicineSaccharomyces cerevisiae ProteinsGene duplicationDuplicabilityPlant Biology & BotanySaccharomyces cerevisiaeSaccharomyces cerevisiae01 natural sciencesDivergenceEvolution Molecular03 medical and health sciencesGenes DuplicateGene Expression Regulation FungalGene expressionGene duplicationGeneticsSelection GeneticSaccharomycotinaPromoter Regions GeneticMolecular BiologyGenePhylogenybiologyPhylogenetic treeGenetic VariationPromoterGeneral MedicineFull Papersbiology.organism_classification030104 developmental biologyEvolutionary biologyTranscriptional plasticityGene expressionGenome Fungal010606 plant biology & botany
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Nuclear factors binding to the extensin promoter exhibit differential activity in carrot protoplasts and cells

1992

The expression of the cell wall protein extensin, a hydroxyproline-rich glycoprotein, is induced by several different stimuli, including wounding. The process of protoplast preparation mimics the wounding effect and results in the induction of extensin. Using transient expression in protoplasts we analyzed several deletions of the extensin promoter. We identified an important transcriptional regulatory element located between the two TATA boxes that characterize the extensin promoter. Other regulatory elements, located further upstream between -719 to -658, are necessary for maximum level of expression. Employing electrophoretic mobility shift assays and methylation interference experiments…

Transcription GeneticMolecular Sequence DataPlant ScienceBiologyDNA-binding proteinCell wallGene expressionGeneticsCloning MolecularPromoter Regions GeneticExtensinGlucuronidaseGlycoproteinsPlant ProteinsBinding SitesBase SequenceProtoplastsNuclear ProteinsDNAGeneral MedicineMethylationPlantsProtoplastMolecular biologyDNA-Binding ProteinsGene Expression RegulationRegulatory sequencebiology.proteinTrans-actingAgronomy and Crop SciencePlant Molecular Biology
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PTHrP in differentiating human mesenchymal stem cells: Transcript isoform expression, promoter methylation, and protein accumulation

2013

Human PTHrP gene displays a complex organization with nine exons producing diverse mRNA variants due to alternative splicing at 5' and 3' ends and the existence of three different transcriptional promoters (P1, P2 and P3), two of which (P2 and P3) contain CpG islands. It is known that the expression of PTHrP isoforms may be differentially regulated in a developmental stage- and tissue-specific manner. To search for novel molecular markers of stemness/differentiation, here we have examined isoform expression in fat-derived mesenchymal stem cells both maintained in stem conditions and induced toward adipo- and osteogenesis. In addition, the expression of the splicing isoforms derived from P2 …

Gene isoformTranscription GeneticPTHrPCellular differentiationpromoter methylationBiologyOsteocytesBiochemistryGene expressionAdipocytesHumansProtein IsoformsadipogenesiSettore BIO/06 - Anatomia Comparata E CitologiaPromoter Regions Geneticmesenchymal stem cellCells CulturedMessenger RNAMesenchymal stem cellAlternative splicingParathyroid Hormone-Related ProteinCell DifferentiationMesenchymal Stem CellsExonsGeneral MedicineMethylationDNA MethylationosteogenesiMolecular biologyIntronsPTHrP; mesenchymal stem cells; osteogenesis; adipogenesis; gene expression; promoter methylationAlternative SplicingSettore BIO/18 - GeneticaGene Expression Regulationgene expressionCpG IslandsStem cellBiochimie
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