IMR Press / FBL / Volume 13 / Issue 5 / DOI: 10.2741/2812

Frontiers in Bioscience-Landmark (FBL) is published by IMR Press from Volume 26 Issue 5 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with Frontiers in Bioscience.

Article
Splicing fidelity, enhancers, and disease
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1 Department of Biological Sciences, Vanderbilt University, Nashville, TN, 37232

*Author to whom correspondence should be addressed.

 

Front. Biosci. (Landmark Ed) 2008, 13(5), 1926–1942; https://doi.org/10.2741/2812
Published: 1 January 2008
Abstract

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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