May 20, 2015

RNA-Binding Proteins: Splicing Factors and Disease

Alger M FredericksWilliam G Fairbrother


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.

Mentioned in this Paper

Pre-mRNA Splicing
Medical Genetics Specialty
RNA Splicing Factors
Splice-Site Mutation
Binding Protein
Nuclear mRNA Cis Splicing, via Spliceosome
RNA Splicing
Instrument, Surgical, Sonic AND Accessory/Attachment

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