Dystrophin gene transcripts skipping the mdx mutation

Muscle Nerve. 1997 Jun;20(6):728-34. doi: 10.1002/(sici)1097-4598(199706)20:6<728::aid-mus10>3.0.co;2-q.

Abstract

The mdx mouse, an animal model used to study Duchenne muscular dystrophy, has a nonsense mutation in exon 23 of the dystrophin gene which should result in a truncated protein that cannot be correctly localized at the sarcolemma of the muscle fibers. Immunohistochemical staining with antidystrophin antibodies has shown that while most of the muscle tissue is dystrophin-negative, a small percentage of muscle fibers is clearly dystrophin-positive and has somehow bypassed the primary nonsense mutation. A sensitive nested polymerase chain reaction-based examination of dystrophin gene transcripts around the mdx mutation has revealed several alternatively processed transcripts. Four mRNA species skipped the mutation in exon 23, were in-frame, and could be translated into a shorter but still functional dystrophin protein. Specific tests for these transcripts demonstrated these were also present in normal mouse muscle tissue.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Disease Models, Animal
  • Dystrophin / genetics*
  • Mice
  • Mice, Inbred C57BL
  • Mice, Inbred mdx
  • Molecular Sequence Data
  • Mutation / genetics*
  • Transcription, Genetic*

Substances

  • Dystrophin