title: The structural and functional diversity of dystrophin.
abstract: Duchenne and Becker muscular dystrophies are caused by defects of the dystrophin gene. Expression of this large X-linked gene is under elaborate transcriptional and splicing control. At least five independent promoters specify the transcription of their respective alternative first exons in a cell-specific and developmentally controlled manner. Three promoters express full-length dystrophin, while two promoters near the C terminus express the last domains in a mutually exclusive manner. Six exons of the C terminus are alternatively spliced, giving rise to several alternative forms. Genetic, biochemical and anatomical studies of dystrophin suggest that a number of distinct functions are subserved by its great structural diversity. Extensive studies of dystrophin may lead to an understanding of the cause and perhaps a rational treatment for muscular dystrophy.
authors.affiliation: Program in Neuroscience, Harvard Medical School, Boston, Massachusetts.
authors.forename: A H
authors.initials: AH
authors.lastname: Ahn
authors.forename: L M
authors.initials: LM
authors.lastname: Kunkel
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D001921:Brain / Q000378:metabolism; D003072:Cognition Disorders / Q000235:genetics; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D015870:Gene Expression; D014644:Genetic Variation; D051379:Mice; D009132:Muscles / Q000378:metabolism / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics*; D010525:Peripheral Nerves / Q000378:metabolism; D011401:Promoter Regions, Genetic; D014158:Transcription, Genetic; D014960:X Chromosome
chemical_list: D016189:Dystrophin