Journal article
Dystrophin gene transcripts skipping the mdx mutation
Muscle & Nerve, Vol.20(6), pp.728-734
1997
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
Details
- Title
- Dystrophin gene transcripts skipping the mdx mutation
- Authors/Creators
- S.D. Wilton (Author/Creator) - Australian Neuromuscular Research Institute, 4th Floor “A” Block, QE III Medical Centre, Nedlands, Western Australia, Australia, 6009D.E. Dye (Author/Creator) - Australian Neuromuscular Research Institute, 4th Floor “A” Block, QE III Medical Centre, Nedlands, Western Australia, Australia, 6009N.G. Laing (Author/Creator) - Australian Neuromuscular Research Institute, 4th Floor “A” Block, QE III Medical Centre, Nedlands, Western Australia, Australia, 6009
- Publication Details
- Muscle & Nerve, Vol.20(6), pp.728-734
- Publisher
- John Wiley and Sons Inc.
- Identifiers
- 991005540020407891
- Copyright
- © 1997 John Wiley & Sons, Inc.
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
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