The structural and functional diversity of dystrophin

Nat Genet. 1993 Apr;3(4):283-91. doi: 10.1038/ng0493-283.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Alternative Splicing
  • Animals
  • Brain / metabolism
  • Cognition Disorders / genetics
  • Dystrophin / genetics*
  • Exons
  • Gene Expression
  • Genetic Variation*
  • Mice
  • Muscles / metabolism
  • Muscles / pathology
  • Muscular Dystrophies / genetics*
  • Peripheral Nerves / metabolism
  • Promoter Regions, Genetic
  • Transcription, Genetic
  • X Chromosome*


  • Dystrophin