Nature Communications (Feb 2016)

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

  • 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

DOI
https://doi.org/10.1038/ncomms10615
Journal volume & issue
Vol. 7, no. 1
pp. 1 – 12

Abstract

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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.