2024
Transcription elongation defects link oncogenic SF3B1 mutations to targetable alterations in chromatin landscape
Boddu P, Gupta A, Roy R, De La Peña Avalos B, Olazabal-Herrero A, Neuenkirchen N, Zimmer J, Chandhok N, King D, Nannya Y, Ogawa S, Lin H, Simon M, Dray E, Kupfer G, Verma A, Neugebauer K, Pillai M. Transcription elongation defects link oncogenic SF3B1 mutations to targetable alterations in chromatin landscape. Molecular Cell 2024, 84: 1475-1495.e18. PMID: 38521065, PMCID: PMC11061666, DOI: 10.1016/j.molcel.2024.02.032.Peer-Reviewed Original ResearchRate of RNA polymerase IIChromatin landscapeElongation defectsElongation rate of RNA polymerase IIImpaired protein-protein interactionsSplicing of pre-messenger RNATranscription elongation defectsRNA polymerase IIProtein-protein interactionsPre-messenger RNACancer-associated mutationsIsogenic cell linesSin3/HDAC complexGene bodiesPolymerase IIChromatin accessibilityH3K4me3 markChromatin changesMutant SF3B1ChromatinMutant mouse modelsEpigenetic disordersEpigenetic factorsHuman diseasesMutant state
2013
Expression Of Mutant Spliceosomal Protein SF3B1 Results In Dysregulated Hematopoietic Maturation
Minella A, Ramirez O, Xu Y, Murthy T, Yang X, Pillai M. Expression Of Mutant Spliceosomal Protein SF3B1 Results In Dysregulated Hematopoietic Maturation. Blood 2013, 122: 2773. DOI: 10.1182/blood.v122.21.2773.2773.Peer-Reviewed Original ResearchSplicing of RNAErythroid maturationErythroid differentiationRNA splicing factorsMurine progenitor cellsMyelodysplastic syndromeWhole-genome sequencingSpliceosomal proteinsSplicing factorsColony forming assaysMutant SF3B1SF3B1 mutationsHematopoietic maturationCDNA constructsHuman cord bloodComplementary experimental approachesAddition of erythropoietinHematopoietic precursor cellsGenome sequencingMDS patientsMolecular mechanismsPosition 700Accessory receptorsHematopoietic progenitorsNormal hematopoiesis