Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations.

doi:10.1182/blood-2018-04-843771

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Article

Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations.

Blood - 20 Sept 2018

Pellagatti Andrea, Armstrong Richard N, Steeples Violetta, Sharma Eshita, Repapi Emmanouela, Singh Shalini, Sanchi Andrea, Radujkovic Aleksandar, Horn Patrick, Dolatshad Hamid, Roy Swagata, Broxholme John, Lockstone Helen, Taylor Stephen, Giagounidis Aristoteles, Vyas Paresh, Schuh Anna, Hamblin Angela, Papaemmanuil Elli, Killick Sally, Malcovati Luca, Hennrich Marco L, Gavin Anne-Claude, Ho Anthony D, Luft Thomas, Hellström-Lindberg Eva, Cazzola Mario, Smith Christopher W J, Smith Stephen, Boultwood Jacqueline

Abstract excerpt

SF3B1, SRSF2, and U2AF1 are the most frequently mutated splicing factor genes in the myelodysplastic syndromes (MDS). We have performed a comprehensive and systematic analysis to determine the effect of these commonly mutated splicing factors on pre-mRNA splicing in the bone marrow stem/progenitor cells and in the erythroid and myeloid precursors in splicing factor mutant MDS. Using RNA-seq, we determined the...

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Identifiers

PMID: 29930011
DOI: 10.1182/blood-2018-04-843771
PMCID: PMC6172604

Genes

SRSF2
AKAP8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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