2024
KLF2 enhancer variant rs4808485 increases lupus risk by modulating inflammasome machinery and cellular homoeostasis
Singh M, Rallabandi H, Zhou X, Qi Y, Zhao Z, Gan T, Zhang H, Looger L, Nath S. KLF2 enhancer variant rs4808485 increases lupus risk by modulating inflammasome machinery and cellular homoeostasis. Annals Of The Rheumatic Diseases 2024, 83: 1-10. PMID: 38373841, PMCID: PMC11168881, DOI: 10.1136/ard-2023-224953.Peer-Reviewed Original ResearchMeSH KeywordsCase-Control StudiesEnhancer Elements, GeneticGenetic Predisposition to DiseaseGenome-Wide Association StudyHomeostasisHumansInflammasomesKruppel-Like Transcription FactorsLupus Erythematosus, SystemicLupus NephritisNLR Family, Pyrin Domain-Containing 3 ProteinPolymorphism, Single NucleotidePromoter Regions, GeneticQuantitative Trait LociConceptsCellular homoeostasisAllele-specific enhancer activityExpression quantitative trait loci analysisGenome-wide association studiesAsian-specific lociQuantitative trait loci analysisSystemic lupus erythematosusCell cycle progressionChromatin immunoprecipitation-qPCRInflammasome machineryPol IIRNA-seqActive chromatinAssociation studiesFunctional variant(sKnockout cellsEpigenetic editingFunctional variantsLocus analysisHealthy controlsWild typeGenome editingTarget gene(sLupus riskGene expression
2023
The Transcriptional Landscape of Ph+B-ALL Is Orchestrated By Long-Range Enhancer-Promoter Interactions and the Coordinated Action of Phosphorylation-Dependent and Phosphorylation-Independent Transcription Factors
Ng H, Robinson M, Malysheva V, Deniz O, Crump N, Cosgun K, Helian K, Spivakov M, Müschen M, Feldhahn N. The Transcriptional Landscape of Ph+B-ALL Is Orchestrated By Long-Range Enhancer-Promoter Interactions and the Coordinated Action of Phosphorylation-Dependent and Phosphorylation-Independent Transcription Factors. Blood 2023, 142: 2779. DOI: 10.1182/blood-2023-173435.Peer-Reviewed Original ResearchTranscription factorsTranscriptional programsEnhancer signatureGene expressionChromatin interactionsTranscriptional changesTyrosine kinaseAdditional transcription factorsMotif enrichment analysisPromoter-enhancer interactionsCis-regulatory elementsEnhancer-promoter interactionsPromoter capture HiNon-promoter regionsUnique transcriptional programGene expression changesCoordinated actionMurine B cell precursorsOncogenic tyrosine kinasesEnhancer usageActive chromatinActive genesEnhancer landscapeTranscriptional landscapeActive enhancersKDM5 Lysine Demethylases in Pathogenesis, from Basic Science Discovery to the Clinic
Zhang S, Cao J, Yan Q. KDM5 Lysine Demethylases in Pathogenesis, from Basic Science Discovery to the Clinic. Advances In Experimental Medicine And Biology 2023, 1433: 113-137. PMID: 37751138, DOI: 10.1007/978-3-031-38176-8_6.ChaptersConceptsPlant homeodomainFamily proteinsKey epigenetic markCell fate determinationHistone methylation marksCancer type-dependent mannerKetoglutarate-dependent dioxygenasesSelective KDM5 inhibitorsTumor suppressive functionType-dependent mannerEpigenetic marksTumor suppressive roleFate determinationJumonji CLysine 4Active chromatinMethylation marksHistone H3Lysine demethylasesCatalytic coreKDM5 inhibitorsDrug targetsKDM5Cancer metastasisSuppressive roleAcetyl-methyllysine marks chromatin at active transcription start sites
Lu-Culligan W, Connor L, Xie Y, Ekundayo B, Rose B, Machyna M, Pintado-Urbanc A, Zimmer J, Vock I, Bhanu N, King M, Garcia B, Bleichert F, Simon M. Acetyl-methyllysine marks chromatin at active transcription start sites. Nature 2023, 622: 173-179. PMID: 37731000, PMCID: PMC10845139, DOI: 10.1038/s41586-023-06565-9.Peer-Reviewed Original ResearchConceptsPost-translational modificationsLysine residuesActive transcription start sitesTranscription start siteRange of speciesChromatin biologyChromatin proteinsLysine methylationActive chromatinProteins BRD2Transcriptional initiationLysine acetylationHistone H4Start siteMammalian tissuesHuman diseasesSame residuesMethylationAcetylationChromatinResiduesProteinBiological signalsHistonesBRD2
2020
Specific chromatin landscapes and transcription factors couple breast cancer subtype with metastatic relapse to lung or brain
Cai WL, Greer CB, Chen JF, Arnal-Estapé A, Cao J, Yan Q, Nguyen DX. Specific chromatin landscapes and transcription factors couple breast cancer subtype with metastatic relapse to lung or brain. BMC Medical Genomics 2020, 13: 33. PMID: 32143622, PMCID: PMC7060551, DOI: 10.1186/s12920-020-0695-0.Peer-Reviewed Original ResearchConceptsOpen chromatin signaturesTranscription factorsChromatin landscapeChromosome conformation captureOpen chromatin landscapeSpecific chromatin landscapesHomophilic cell adhesionTransposase-accessible chromatinEnhancer-promoter interactionsSpecific transcription factorsActive chromatin sitesATAC-seq dataMetastatic cellsGene expression dataChromatin signaturesConformation captureChromatin sitesActive chromatinATAC-seqEpigenomic propertiesChIP-seqChromatin immunoprecipitationEndothelial cell migrationEpigenomic analysisTranscriptomic differences
2019
Genome-wide characterization of cytosine-specific 5-hydroxymethylation in normal breast tissue
Wilkins O, Johnson K, Houseman E, King J, Marsit C, Christensen B. Genome-wide characterization of cytosine-specific 5-hydroxymethylation in normal breast tissue. Epigenetics 2019, 15: 398-418. PMID: 31842685, PMCID: PMC7153548, DOI: 10.1080/15592294.2019.1695332.Peer-Reviewed Original ResearchConceptsGenome-wide characterizationGenome-wide patternsGenome-wide mapsGene regulatory programsActive chromatinGenomic lociGene regulationTranscriptional inactivityRegulatory regionsGene regionMammalian tissuesRegulatory programsCpG lociDNA treatmentImmune cell functionCell functionLociLactate oxidationNormal breast tissueIndependent data setsPre-invasive breast cancerRecent evidenceHeterochromatinChromatinBisulfite
2011
Recombination centres and the orchestration of V(D)J recombination
Schatz DG, Ji Y. Recombination centres and the orchestration of V(D)J recombination. Nature Reviews Immunology 2011, 11: 251-263. PMID: 21394103, DOI: 10.1038/nri2941.Peer-Reviewed Original ResearchConceptsAntigen receptor genesRecombination signal sequencesSignal sequenceHigher-order chromatin architectureHistone H3 lysine 4Receptor geneAntigen receptor gene segmentsInactive nuclear compartmentsPlant homeodomain (PHD) fingerH3 lysine 4Antigen receptor lociReceptor gene segmentsEctopic recruitmentChromatin architectureChromatin structureLysine 4Active chromatinGenome instabilityHistone modificationsRAG2 proteinsThousands of sitesNuclear compartmentRecombination eventsTranscriptional activityGenomic DNA
2010
The In Vivo Pattern of Binding of RAG1 and RAG2 to Antigen Receptor Loci
Ji Y, Resch W, Corbett E, Yamane A, Casellas R, Schatz DG. The In Vivo Pattern of Binding of RAG1 and RAG2 to Antigen Receptor Loci. Cell 2010, 141: 419-431. PMID: 20398922, PMCID: PMC2879619, DOI: 10.1016/j.cell.2010.03.010.Peer-Reviewed Original ResearchConceptsJ gene segmentsRAG proteinsGene segmentsSignal sequenceLineage-specific mannerAntigen receptor lociRecombination signal sequencesLysine 4Active chromatinRAG2 bindThousands of sitesHistone 3Receptor locusDevelopmental stagesD gene segmentsDiscrete sitesCritical initial stepVivo patternRAG1BindingRAG2Beta JProteinRecombinationSpecific binding
2008
Pax5 and Linker Histone H1 Coordinate DNA Methylation and Histone Modifications in the 3′ Regulatory Region of the Immunoglobulin Heavy Chain Locus
Giambra V, Volpi S, Emelyanov AV, Pflugh D, Bothwell AL, Norio P, Fan Y, Ju Z, Skoultchi AI, Hardy RR, Frezza D, Birshtein BK. Pax5 and Linker Histone H1 Coordinate DNA Methylation and Histone Modifications in the 3′ Regulatory Region of the Immunoglobulin Heavy Chain Locus. Molecular And Cellular Biology 2008, 28: 6123-6133. PMID: 18644860, PMCID: PMC2547000, DOI: 10.1128/mcb.00233-08.Peer-Reviewed Original ResearchConceptsImmunoglobulin heavy chain locusHeavy chain locusHistone modificationsDNA methylationRegulatory regionsPalindromic regionMurine immunoglobulin heavy chain locusB-cell-specific transcription factor Pax5Chain locusLinker histone H1Multiple DNase IModular patternsTranscription factor Pax5Class switch recombinationMethylation-sensitive restriction sitesActive chromatinHeavy chain allelesHypersensitive sitesHistone H1B cell differentiationDNase ISwitch recombinationPotential insulatorsRestriction sitesHS4
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