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Article

Splicing factor SF3B1K700E mutant dysregulates erythroid differentiation via aberrant alternative splicing of transcription factor TAL1.

PloS one - 1 Jan 2017

Jin Shuiling, Su Hairui, Tran Ngoc-Tung, Song Jing, Lu Sydney S, Li Ying, Huang Suming, Abdel-Wahab Omar, Liu Yanyan, Zhao Xinyang

Abstract excerpt

More than 60% of myeloid dysplasia syndrome (MDS) contains mutations in genes encoding for splicing factors such as SF3B1, U2AF, SRSF2 and ZRSR2. Mutations in SF3B1 are associated with 80% cases of refractory anemia with ring sideroblast (RARS), a subtype of MDS. SF3B1K700E is the most frequently mutated site among mutations on SF3B1. Yet the molecular mechanisms on how mutations of splicing factors lead to...

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Source

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Identifiers

PMID: 28545085
DOI: 10.1371/journal.pone.0175523
PMCID: PMC5436638

Genes

TAL1
RBM15
PRMT1
GATA1
SRSF2
ZRSR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Splicing factor SF3B1K700E mutant dysregulates erythroid differentiation via aberrant alternative splicing of transcription factor TAL1.PMID 28545085Read ↗

Mutations in Splicing Factor Genes in Myeloid Malignancies: Significance and Impact on Clinical FeaturesSemantic proximity Read ↗

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