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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

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Timmermann,  Bernd
Sequencing (Head: Bernd Timmermann), Scientific Service (Head: Christoph Krukenkamp), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Citation

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.


Cite as: http://hdl.handle.net/11858/00-001M-0000-002E-1E9E-1
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.