Search results for " Enhancer Elements"

showing 3 items of 3 documents

Epigenomic landscape of human colorectal cancer unveils an aberrant core of pan-cancer enhancers orchestrated by YAP/TAZ

2021

Cancer is characterized by pervasive epigenetic alterations with enhancer dysfunction orchestrating the aberrant cancer transcriptional programs and transcriptional dependencies. Here, we epigenetically characterize human colorectal cancer (CRC) using de novo chromatin state discovery on a library of different patient-derived organoids. By exploring this resource, we unveil a tumor-specific deregulated enhancerome that is cancer cell-intrinsic and independent of interpatient heterogeneity. We show that the transcriptional coactivators YAP/TAZ act as key regulators of the conserved CRC gained enhancers. The same YAP/TAZ-bound enhancers display active chromatin profiles across diverse human t…

0301 basic medicineOrganoidEpigenomicsTranscription FactorGeneral Physics and AstronomyColorectal NeoplasmAdaptor Proteins Signal Transducing; Colorectal Neoplasms; Gene Expression Regulation Neoplastic; Histone Code; Humans; Models Genetic; Organoids; RNA-Seq; Single-Cell Analysis; Trans-Activators; Transcription Factors; Tumor Cells Cultured; Enhancer Elements Genetic; Epigenesis GeneticEpigenesis Genetic0302 clinical medicineModelsAdaptor Proteins Signal Transducing Colorectal Neoplasms Gene Expression Regulation NeoplasticHistone Code Humans Models Genetic Organoids RNA-Seq Single-Cell Analysis Trans-Activators Transcription Factors Tumor Cells Cultured Enhancer Elements Genetic Epigenesis GeneticTumor Cells CulturedCancer genomicsHistone codeRNA-SeqEpigenomicsAdaptor Proteins Signal Transducing; Colorectal Neoplasms; Gene Expression Regulation Neoplastic; Histone Code; Humans; Models Genetic; Organoids; RNA-Seq; Single-Cell Analysis; Trans-Activators; Transcription Factors; Transcriptional Coactivator with PDZ-Binding Motif Proteins; Tumor Cells Cultured; YAP-Signaling Proteins; Enhancer Elements Genetic; Epigenesis GeneticMultidisciplinaryCulturedQAdaptor Proteins3. Good healthChromatinTumor CellsGene Expression Regulation NeoplasticHistone CodeOrganoidsSingle-Cell AnalysiEnhancer Elements GeneticTrans-Activator030220 oncology & carcinogenesisSingle-Cell AnalysisColorectal NeoplasmsHumanEnhancer ElementsScienceTumour heterogeneityBiologyGeneral Biochemistry Genetics and Molecular BiologyArticle03 medical and health sciencesGeneticmedicineHumansEpigeneticsEnhancerTranscription factorAdaptor Proteins Signal TransducingNeoplasticModels GeneticSignal TransducingCancerYAP-Signaling ProteinsGeneral Chemistrymedicine.diseaseColorectal cancerdigestive system diseases030104 developmental biologyGene Expression RegulationTranscriptional Coactivator with PDZ-Binding Motif ProteinsCancer cellCancer researchTrans-ActivatorsEpigenesisTranscription Factors
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Polymorphism of immunoglobulin enhancer element HS1,2A: allele *2 associates with systemic sclerosis. Comparison with HLA‐DR and DQ allele frequency

2007

OBJECTIVE: To investigate the relationship of the polymorphic enhancer HS1,2 central to the 3' enhancer complex regulatory region (IgH3'EC) of the immunoglobulin heavy chain genes with systemic sclerosis (SSc) disease and compare it with HLA-DR and DQ associations. METHODS: A total of 116 patients with SSc were classified as diffuse (dSSc) or limited (lSSc), and as carriers of antitopoisomerase I (anti-Scl70) or anticentromere (ACA) antibodies. Allele and genotype frequencies were assessed in the population as a whole and in the two major subsets, dSSc and lSSc. The concentration of peripheral blood immunoglobulin levels was also determined and analysed according to the genotypes. RESULTS: …

MaleSettore MED/16 - REUMATOLOGIAsystemic sclerosisclinical evaluationgenotype phenotype correlationHLA DR antigenSclerodermaGene FrequencyGenotypeImmunology and Allergycentromere antibody; HLA DR antigen; immunoglobulin enhancer binding protein; scl 70 antibody; adult; aged; article; clinical evaluation; controlled study; DNA polymorphism; female; gene frequency; genotype phenotype correlation; human; major clinical study; male; priority journal; risk factor; systemic sclerosis; Adult; Aged; Autoantibodies; Enhancer Elements (Genetics); Esophagus; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; HLA-DQ Antigens; HLA-DR Antigens; Humans; Immunoglobulin Heavy Chains; Male; Middle Aged; Phenotype; Polymorphism Genetic; Scleroderma Systemic; Statistics Nonparametric; Stomacheducation.field_of_studycentromere antibodyStatisticsStomacharticleMiddle AgedExtended Reportimmunoglobulin enhancer binding proteinEnhancer Elements GeneticPhenotypepriority journalrisk factorFemaleImmunoglobulin Heavy ChainsAdultGenotypeImmunologyPopulationBiologyGeneral Biochemistry Genetics and Molecular BiologyStatistics NonparametricEsophagusGeneticRheumatologyHLA-DQ AntigensHLA-DRHumanscontrolled studyEnhancer Elements (Genetics)NonparametricGenetic Predisposition to DiseasehumanPolymorphismAlleleeducationEnhancerAllele frequencyAgedAutoantibodiesscl 70 antibodyPolymorphism GeneticScleroderma SystemicSystemicHLA-DR Antigensmajor clinical studyGenotype frequencySettore BIO/18 - GeneticaDNA polymorphismImmunologyImmunoglobulin heavy chain
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The Sea Urchin sns Insulator Blocks CMV Enhancer following Integration in Human Cells

2001

Insulators are a new class of genetic elements that attenuate enhancer function directionally. Previously, we characterized in sea urchin a 265-bp-long insulator, termed sns. To test insulator activity following stable integration in human cells, we placed sns between the CMV enhancer and a tk promoter up-stream of a GFP transgene of plasmid or retroviral vectors. In contrast to controls, cells transfected or transduced with insulated constructs displayed a barely detectable fluorescence. Southern blot and PCR ruled out vector rearrangement following integration into host DNA; RNase protection confirmed the enhancer blocking activity. Finally, we demonstrate that two cis-acting sequences, p…

animal structuresSea UrchinVirus IntegrationTransgeneMolecular Sequence DataBiophysicsCytomegalovirusSettore BIO/11 - Biologia MolecolareSimian virus 40BiologyTransfectionPolymerase Chain ReactionBiochemistrySodium ChannelsNAV1.8 Voltage-Gated Sodium ChannelPlasmidTumor Cells CulturedAnimalsHumansEnhancer trapDNA Polymerase Chain ReactionEnhancerBinding Sites; DNA Polymerase Chain Reaction; Recombinant Proteins; Sea Urchins;Tumor Cells Cultured; Enhancer Elements Genetic; Virus Integration;Molecular BiologyVirus IntegrationSouthern blotBinding SitesBase SequenceBinding SiteCell BiologyTransfectionRecombinant ProteinMolecular biologyRecombinant ProteinsChromatinSettore BIO/18 - GeneticaEnhancer Elements GeneticSea UrchinsDNA ViralBiochemical and Biophysical Research Communications
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