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

Nat Genet. 1994 Dec;8(4):333-9. doi: 10.1038/ng1294-333.

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 C-terminal 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.

Publication types

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

MeSH terms

  • Animals
  • Cell Line
  • Disease Models, Animal
  • Dystrophin / analogs & derivatives*
  • Dystrophin / genetics
  • Dystrophin / metabolism
  • Immunohistochemistry
  • Mice
  • Mice, Inbred C57BL
  • Mice, Transgenic
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / prevention & control

Substances

  • Dystrophin
  • apo-dystrophin 1