title: Alternative splicing in disease.
abstract: Alternative splicing is a major source of diversity in the human proteome. The regulation of alternative splicingmodulates the composition of this diversity to fulfill the physiological requirements of a cell. When control of alternative splicing is disrupted, the result can be a failure to meet cellular and tissue requirements resulting in dysfunction and disease. There are several well-characterized examples in which disruption of alternative splicing is a cause of disease. Investigations into how the mis-regulation of alternative splicing causes disease complements investigations of normal regulatory processes and enhances our understanding of regulatory mechanisms in general Ultimately, an understanding of how alternative splicing is altered in disease will facilitate strategies directed at reversing or circumventing mis-regulated splicing events.
authors: Department of Pathology, Baylor College of Medicine, Houston, Texas, USA.
authors: James P
authors: JP
authors: Orengo
authors: Thomas A
authors: TA
authors: Cooper
mesh_terms: D017398:Alternative Splicing / Q000235:genetics* / Q000502:physiology; D000818:Animals; D006801:Humans; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000235:genetics*; D009223:Myotonic Dystrophy / Q000235:genetics*; D009369:Neoplasms / Q000235:genetics*; D011218:Prader-Willi Syndrome / Q000235:genetics*; D012322:RNA Precursors / Q000378:metabolism*
chemical_list: D012322:RNA Precursors