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RNA-Binding Proteins: Splicing Factors and Disease

Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, 70 Ship Street, Providence, RI 02903, USA
Center for Computational Molecular Biology, Brown University, 115 Waterman Street, Providence, RI 02912, USA
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Academic Editor: André P. Gerber
Biomolecules 2015, 5(2), 893-909;
Received: 1 April 2015 / Revised: 22 April 2015 / Accepted: 29 April 2015 / Published: 13 May 2015
(This article belongs to the Special Issue RNA-Binding Proteins—Structure, Function, Networks and Disease)
PDF [1624 KB, uploaded 13 May 2015]


Pre-mRNA splicing is mediated by interactions of the Core Spliceosome and an array of accessory RNA binding proteins with cis-sequence elements. Splicing is a major regulatory component in higher eukaryotes. Disruptions in splicing are a major contributor to human disease. One in three hereditary disease alleles are believed to cause aberrant splicing. Hereditary disease alleles can alter splicing by disrupting a splicing element, creating a toxic RNA, or affecting splicing factors. One of the challenges of medical genetics is identifying causal variants from the thousands of possibilities discovered in a clinical sequencing experiment. Here we review the basic biochemistry of splicing, the mechanisms of splicing mutations, the methods for identifying splicing mutants, and the potential of therapeutic interventions. View Full-Text
Keywords: RNA-binding proteins; motif; splicing RNA-binding proteins; motif; splicing

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

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Fredericks, A.M.; Cygan, K.J.; Brown, B.A.; Fairbrother, W.G. RNA-Binding Proteins: Splicing Factors and Disease. Biomolecules 2015, 5, 893-909.

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