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Disease-Causing Mutations in SF3B1 Alter Splicing by Disrupting Interaction with SUGP1

Mol Cell.. 2019; 
Zhang J1, Ali AM2, Lieu YK3, Liu Z4, Gao J1, Rabadan R4, Raza A5, Mukherjee S6, Manley JL7.
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摘要

SF3B1, which encodes an essential spliceosomal protein, is frequently mutated in myelodysplastic syndromes (MDS) and many cancers. However, the defect of mutant SF3B1 is unknown. Here, we analyzed RNA sequencing data from MDS patients and confirmed that SF3B1 mutants use aberrant 3' splice sites. To elucidate the underlying mechanism, we purified complexes containing either wild-type or the hotspot K700E mutant SF3B1 and found that levels of a poorly studied spliceosomal protein, SUGP1, were reduced in mutant spliceosomes. Strikingly, SUGP1 knockdown completely recapitulated the splicing errors, whereas SUGP1 overexpression drove the protein, which our data suggest plays an important role in branchsite recognit... More

关键词

SF1; SRSF2; U2 snRNP; U2AF1; U2AF2; branch point; leukemia; myelodysplastic syndromes; p14; spliceosome