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- Title
Dystrophin gene transcripts skipping the mdx mutation.
- Authors
Wilton, Stephen D.; Dye, Danielle E.; Laing, Nigel G.; Wilton, S D; Dye, D E; Laing, N G
- 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
Muscle & Nerve, 1997, Vol 20, Issue 6, p728
- ISSN
0148-639X
- Publication type
journal article
- DOI
10.1002/(SICI)1097-4598(199706)20:6<728::AID-MUS10>3.0.CO;2-Q