RNA-Binding Proteins: Splicing Factors and Disease
AbstractPre-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
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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.
Fredericks AM, Cygan KJ, Brown BA, Fairbrother WG. RNA-Binding Proteins: Splicing Factors and Disease. Biomolecules. 2015; 5(2):893-909.Chicago/Turabian Style
Fredericks, Alger M.; Cygan, Kamil J.; Brown, Brian A.; Fairbrother, William G. 2015. "RNA-Binding Proteins: Splicing Factors and Disease." Biomolecules 5, no. 2: 893-909.