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Dystrophin gene transcripts skipping the mdx mutation

✍ Scribed by Stephen D. Wilton; Danielle E. Dye; Nigel G. Laing

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 226 KB
Volume: 20
Category: Article
ISSN: 0148-639X
DOI: 10.1002/(sici)1097-4598(199706)20:6<728::aid-mus10>3.0.co;2-q

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✦ Synopsis

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.

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