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Dp71 can restore the dystrophin-associated glycoprotein complex in muscle but fails to prevent dystrophy

Nature Genetics volume 8, pages 333–339 (1994)Cite this article

Abstract

Two lines of transgenic mdx mice have been generated that express a 71 kD non-muscle isoform of dystrophin (Dp71) in skeletal muscle. This isoform contains the cysteine-rich and Oterminal domains of dystrophin, but lacks the N-terminal actin-binding and central spectrin-like repeat domains. Dp71 was associated with the sarcolemma membrane, where it restored normal expression and localization of all members of the dystrophin-associated glycoprotein complex. However, the skeletal muscle pathology of the transgenic mdx mice remained severe. These results indicate that the dystrophin C terminus cannot function independently to prevent dystrophic symptoms and confirms predictions based on patient data that both the N and C-terminal domains are required for normal dystrophin function.

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Authors and Affiliations

  1. Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, 48109-0618, USA

    Gregory A. Cox & Jeffrey S. Chamberlain

  2. Howard Hughes Medical Institute and Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City, Iowa, 52242, USA

    Yoshihide Sunada & Kevin P. Campbell

  3. Human Genome Center, University of Michigan Medical School, Ann Arbor, Michigan, 48109-0618, USA

    Jeffrey S. Chamberlain

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Cox, G., Sunada, Y., Campbell, K. et al. Dp71 can restore the dystrophin-associated glycoprotein complex in muscle but fails to prevent dystrophy. Nat Genet 8, 333–339 (1994). https://doi.org/10.1038/ng1294-333

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