| First Author | Wilton SD | Year | 1997 |
| Journal | Muscle Nerve | Volume | 20 |
| Issue | 6 | Pages | 728-34 |
| PubMed ID | 9149080 | Mgi Jnum | J:40541 |
| Mgi Id | MGI:700181 | Doi | 10.1002/(sici)1097-4598(199706)20:6<728::aid-mus10>3.0.co;2-q |
| Citation | Wilton SD, et al. (1997) Dystrophin gene transcripts skipping the mdx mutation. Muscle Nerve 20(6):728-34 |
| abstractText | 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. (C) 1997 John Wiley & Sons, Inc. |
