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

Mutations in the splicing factor SF3B1 are found in uveal melanoma. Here, Alsafadi et al. use RNA-sequencing data from these cancers and experimental models, and show that mutant SF3B1 promotes alternative branchpoints in a specific gene subset and that the mutant protein gains a new function.

Bibliographic Details
Main Authors: Samar Alsafadi, Alexandre Houy, Aude Battistella, Tatiana Popova, Michel Wassef, Emilie Henry, Franck Tirode, Angelos Constantinou, Sophie Piperno-Neumann, Sergio Roman-Roman, Martin Dutertre, Marc-Henri Stern
Format: Article
Language:English
Published: Nature Portfolio 2016-02-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/ncomms10615