Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage

Abstract

Hotspot mutations in the spliceosome gene SF3B1 are reported in ∼20% of uveal melanomas. SF3B1 is involved in 3'-splice site (3'ss) recognition during RNA splicing; however, the molecular mechanisms of its mutation have remained unclear. Here we show, using RNA-Seq analyses of uveal melanoma, that the SF3B1(R625/K666) mutation results in deregulated… (More)
DOI: 10.1038/ncomms10615

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