title: Dystrophin gene transcripts skipping the mdx mutation.
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.
authors.affiliation: Australian Neuromuscular Research Institute, QE III Medical Centre, Nedlands, Western Australia.
authors.forename: S D
authors.initials: SD
authors.lastname: Wilton
authors.forename: D E
authors.initials: DE
authors.lastname: Dye
authors.forename: N G
authors.initials: NG
authors.lastname: Laing
mesh_terms: D000818:Animals; D001483:Base Sequence; D004195:Disease Models, Animal; D016189:Dystrophin / Q000235:genetics*; D051379:Mice; D008810:Mice, Inbred C57BL; D018101:Mice, Inbred mdx; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D014158:Transcription, Genetic
chemical_list: D016189:Dystrophin