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The structural and functional diversity of dystrophin

Nature Genetics volume 3, pages 283–291 (1993)Cite this article

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.

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  1. Program in Neuroscience and Medical Scientist Training Program, Harvard Medical School, 570 Enders Building, 300 Longwood Avenue, Boston, Massachusetts, 02115, USA

    Andrew H. Ahn

  2. Howard Hughes Medical Institute at Children's Hospital, 570 Enders Building, 300 Longwood Avenue, Boston, Massachusetts, 02115, USA

    Louis M. Kunkel

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Ahn, A., Kunkel, L. The structural and functional diversity of dystrophin. Nat Genet 3, 283–291 (1993). https://doi.org/10.1038/ng0493-283

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