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
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author 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
author_facet 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
author_sort Samar Alsafadi
collection DOAJ
description 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.
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spelling doaj.art-895eb1555d734fbe947b98b9284ba24c2022-12-21T20:37:01ZengNature PortfolioNature Communications2041-17232016-02-017111210.1038/ncomms10615Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usageSamar Alsafadi0Alexandre Houy1Aude Battistella2Tatiana Popova3Michel Wassef4Emilie Henry5Franck Tirode6Angelos Constantinou7Sophie Piperno-Neumann8Sergio Roman-Roman9Martin Dutertre10Marc-Henri Stern11Department of Genetics and Biology of Cancers, INSERM U830, Institut Curie, PSL Research UniversityDepartment of Genetics and Biology of Cancers, INSERM U830, Institut Curie, PSL Research UniversityDepartment of Genetics and Biology of Cancers, INSERM U830, Institut Curie, PSL Research UniversityDepartment of Genetics and Biology of Cancers, INSERM U830, Institut Curie, PSL Research UniversityDepatment of Developmental Biology and Genetics, CNRS UMR 3215/INSERM U934, Institut Curie, PSL Research UniversityTranslational Research Department, Institut Curie, PSL Research UniversityDepartment of Genetics and Biology of Cancers, INSERM U830, Institut Curie, PSL Research UniversityDepartment of Molecular Bases of Human Diseases, CNRS UPR 1142, IGH-Institute of Human GeneticsDepartment of Medical Oncology, Institut CurieTranslational Research Department, Institut Curie, PSL Research UniversityDepartment of Genotoxic stress and Cancer, CNRS UMR 3348, Institut Curie, PSL Research UniversityDepartment of Genetics and Biology of Cancers, INSERM U830, Institut Curie, PSL Research UniversityMutations 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.https://doi.org/10.1038/ncomms10615
spellingShingle 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
Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage
Nature Communications
title Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage
title_full Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage
title_fullStr Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage
title_full_unstemmed Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage
title_short Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage
title_sort cancer associated sf3b1 mutations affect alternative splicing by promoting alternative branchpoint usage
url https://doi.org/10.1038/ncomms10615
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