Article
Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage.
Nature communications - 4 Feb 2016
Alsafadi Samar, Houy Alexandre, Battistella Aude, Popova Tatiana, Wassef Michel, Henry Emilie, Tirode Franck, Constantinou Angelos, Piperno-Neumann Sophie, Roman-Roman Sergio, Dutertre Martin, Stern Marc-Henri
Abstract excerpt
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 splicing at a subset of junctions, mostly by the use of...
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