2024
A Unified Post-Transcriptional Mechanism Regulates Intron Retention in Splicing Factor-Mutant MDS
Boddu P, Roy R, Baumgartner F, Hutter S, Haferlach T, Pillai M. A Unified Post-Transcriptional Mechanism Regulates Intron Retention in Splicing Factor-Mutant MDS. Blood 2024, 144: 2732-2732. DOI: 10.1182/blood-2024-211458.Peer-Reviewed Original ResearchRNA-binding proteinsIntron retentionAlternative splicing patternsPost-transcriptional mechanismsIR eventsSF mutationsSR proteinsSF3B1 mutantsAnalyzed RNA-seq datasetsMyelodysplastic syndromeCo-transcriptional splicingCo-transcriptional mechanismsRNA-seq datasetsPost-transcriptional splicingWild-typeSub-compartmentsNuclear sub-compartmentsHEK293T cellsGene expression analysisWild-type K562 cellsRNA processingMutant cellsPhospho-proteomicsExon featuresAS events
2023
Impaired Early Spliceosome Complex Assembly Underlies Gene Body Elongation Transcription Defect in SF3B1K700E
Boddu P, Gupta A, Roy R, De La Pena Avalos B, Herrero A, Zimmer J, Simon M, Chandhok N, King D, Neuenkirchen N, Dray E, Lin H, Kupfer G, Verma A, Neugebauer K, Pillai M. Impaired Early Spliceosome Complex Assembly Underlies Gene Body Elongation Transcription Defect in SF3B1K700E. Blood 2023, 142: 714. DOI: 10.1182/blood-2023-187303.Peer-Reviewed Original ResearchSplicing factorsChIP-seqK562 cell lineKey regulatory genesCell linesSingle mutant alleleNon-denaturing gelsAlternative splicingTranscriptional kineticsRegulatory genesSpliceosome assemblySplicing efficiencyMRNA splicingCRISPR/Progenitor populationsNeomorphic functionsMolecular mechanismsMutant allelesIsoform changesGene editingNovel mechanismMutationsSF mutationsRecurrent mutationsAssembly kinetics