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Dystrophin gene transcripts skipping the mdx mutation

Wilton, S.D., Dye, D.E. and Laing, N.G. (1997) Dystrophin gene transcripts skipping the mdx mutation. Muscle & Nerve, 20 (6). pp. 728-734.

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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 Type: Journal Article
Publisher: John Wiley and Sons Inc.
Copyright: © 1997 John Wiley & Sons, Inc.
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