Aberrant EVI1 splicing contributes to EVI1-rearranged leukemia
Tanaka A, Nakano T, Nomura M, Yamazaki H, Bewersdorf J, Mulet-Lazaro R, Hogg S, Liu B, Penson A, Yokoyama A, Zang W, Havermans M, Koizumi M, Hayashi Y, Cho H, Kanai A, Lee S, Xiao M, Koike Y, Zhang Y, Fukumoto M, Aoyama Y, Konuma T, Kunimoto H, Inaba T, Nakajima H, Honda H, Kawamoto H, Delwel R, Abdel-Wahab O, Inoue D. Aberrant EVI1 splicing contributes to EVI1-rearranged leukemia. Blood 2022, 140: 875-888. PMID: 35709354, PMCID: PMC9412007, DOI: 10.1182/blood.2021015325.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsChromosome InversionChromosomes, Human, Pair 3DNA-Binding ProteinsHumansLeukemia, Myeloid, AcuteMDS1 and EVI1 Complex Locus ProteinMiceProto-OncogenesTranscription FactorsConceptsAcute myeloid leukemiaMyeloid leukemiaEVI1 isoformsSF3B1 mutationsAberrant 3' splice sitesSelf-renewal of hematopoietic stem cellsSplicing factor SF3B1Zinc finger domainExonic splicing enhancerIn-frame insertionCryptic branch pointPathogenesis of myeloid leukemiaPatient-derived cell linesHematopoietic stem cellsRNA-splicingSplicing enhancerSplice siteEpigenomic analysesMutant SF3B1Promoter usageExon 13Leukemic transformationSplice variantsGenomic alterationsUpregulated transcripts