Nature Communications (Feb 2016)
Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage
Abstract
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.