A truncated dystrophin lacking the C-terminal domains is localized at the muscle membrane

Am J Hum Genet. 1992 Mar;50(3):508-14.

Abstract

A Duchenne muscular dystrophy patient who displayed near-normal dystrophin staining at the sarcolemma with N-terminal, but not with C-terminal, anti-dystrophin monoclonal antibodies was found to have a frameshift deletion of exons 42 and 43. This deletion introduces an early termination codon, and a 225-kD protein was detected by western blotting with N-terminal antibodies only. The results suggest that an N-terminal truncated dystrophin fragment encoded by exon 1-41 is able to associate with the muscle cell membrane. The current idea that the C-terminal domains of dystrophin are important or essential for its integration with the sarcolemma may have to be reexamined in the light of these observations.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Antibodies, Monoclonal
  • Blotting, Western
  • Child, Preschool
  • Chromosome Deletion
  • Dystrophin / chemistry
  • Dystrophin / genetics*
  • Dystrophin / immunology
  • Frameshift Mutation
  • Humans
  • Immunohistochemistry
  • Male
  • Molecular Sequence Data
  • Muscular Dystrophies / genetics*
  • Sarcolemma / chemistry

Substances

  • Antibodies, Monoclonal
  • Dystrophin