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  The cancer-associated U2AF35 470A>G (Q157R) mutation creates an in-frame alternative 5’ splice site that impacts on splicing regulation in Q157R patients

Herdt, O., Neumann, A., Timmermann, B., & Heyd, F. (2017). The cancer-associated U2AF35 470A>G (Q157R) mutation creates an in-frame alternative 5’ splice site that impacts on splicing regulation in Q157R patients. RNA, 2017: pii: rna.061432.117. doi:10.1261/rna.061432.117.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-002E-1E9E-1 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-002E-1EA0-A
Genre: Journal Article

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© 2017 Cold Spring Harbor Laboratory Press for the RNA Society

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 Creators:
Herdt, Olga1, Author
Neumann, Alexander1, Author
Timmermann, Bernd2, Author              
Heyd, Florian1, Author
Affiliations:
1Freie Universität Berlin, Institute of Chemistry and Biochemistry, Laboratory of RNA Biochemistry, Takustrasse 6, 14195 Berlin, Germany, ou_persistent22              
2Sequencing (Head: Bernd Timmermann), Scientific Service (Head: Christoph Krukenkamp), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479670              

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Free keywords: U2AF; U2AF mutations and cancer; alternative splicing
 Abstract: Recent work has identified cancer-associated U2AF35 missense mutations in two zinc-finger (ZnF) domains, but little is known about Q157R/P substitutions within the second ZnF. Surprisingly, we find that the c.470A>G mutation not only leads to the Q157R substitution, but also creates an alternative 5' splice site (ss) resulting in the deletion of four amino acids (Q157Rdel). Q157P, Q157R and Q157Rdel control alternative splicing of distinct groups of exons in cell culture and in human patients, suggesting that missplicing of different targets may contribute to cellular aberrations. Our data emphasize the importance to explore missense mutations beyond altered protein sequence.

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Language(s): eng - English
 Dates: 2017-09-11
 Publication Status: Published online
 Pages: -
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 Table of Contents: -
 Rev. Method: -
 Identifiers: DOI: 10.1261/rna.061432.117
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Title: RNA
Source Genre: Journal
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Publ. Info: Cold Spring Harbor Laboratory Press
Pages: - Volume / Issue: 2017 Sequence Number: pii: rna.061432.117 Start / End Page: - Identifier: ISSN: 1469-9001 (Online) 1355-8382 (Print)