May 20, 2015

RNA-Binding Proteins: Splicing Factors and Disease

Biomolecules
Alger M FredericksWilliam G Fairbrother

Abstract

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
Sequencing
Nuclear mRNA Cis Splicing, via Spliceosome
RNA Splicing
Mutant
Instrument, Surgical, Sonic AND Accessory/Attachment

Related Feeds

Alternative splicing

Alternative splicing a regulated gene expression process that allows a single genetic sequence to code for multiple proteins. Here is that latest research.

Related Papers

Genes & Development
Nuno André Faustino, Thomas A Cooper
Annual Review of Genetics
M R Green
Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme
Kinji Ohno
© 2020 Meta ULC. All rights reserved