Journal
FRONTIERS IN BIOSCIENCE-LANDMARK
Volume 13, Issue -, Pages 1926-1942Publisher
FRONTIERS IN BIOSCIENCE INC
DOI: 10.2741/2812
Keywords
pre-mRNA splicing; growth hormone; GH1; IGHD II; muscular dystrophy; DMD; BMD; SMA; FTDP-17; review
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Funding
- NIGMS NIH HHS [GM 62487] Funding Source: Medline
- NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES [R01GM062487] Funding Source: NIH RePORTER
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Eukaryotic pre-mRNA splicing allows for a large, diverse proteome to be coded by a relatively small genome. Alternative splicing events are well regulated, but when mutations disrupt the splice sites or regulatory elements, disease can occur. Similarly, mutations can cause disease through aberrant transcript production. Enhancers, one of the splicing regulatory elements, are frequent targets of disease causing mutations. This review provides an overview of the splicing reaction and mechanisms of alternative splicing and provides examples of enhancer defects that cause disease.
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