title: A truncated dystrophin lacking the C-terminal domains is localized at the muscle membrane.
abstract: A Duchenne muscular dystrophy patient who displayed near-normal dystrophin staining at the sarcolemma with N-terminal, but not with C-terminal, anti-dystrophin monoclonal antibodies was found to have a frameshift deletion of exons 42 and 43. This deletion introduces an early termination codon, and a 225-kD protein was detected by western blotting with N-terminal antibodies only. The results suggest that an N-terminal truncated dystrophin fragment encoded by exon 1-41 is able to associate with the muscle cell membrane. The current idea that the C-terminal domains of dystrophin are important or essential for its integration with the sarcolemma may have to be reexamined in the light of these observations.
authors.affiliation: University Department of Pathology, Royal Liverpool Hospital, United Kingdom.
authors.forename: T R
authors.initials: TR
authors.lastname: Helliwell
authors.forename: J M
authors.initials: JM
authors.lastname: Ellis
authors.forename: R C
authors.initials: RC
authors.lastname: Mountford
authors.forename: R E
authors.initials: RE
authors.lastname: Appleton
authors.forename: G E
authors.initials: GE
authors.lastname: Morris
mesh_terms: D000595:Amino Acid Sequence; D000911:Antibodies, Monoclonal; D015153:Blotting, Western; D002675:Child, Preschool; D002872:Chromosome Deletion; D016189:Dystrophin / Q000737:chemistry / Q000235:genetics* / Q000276:immunology; D016368:Frameshift Mutation; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics*; D012508:Sarcolemma / Q000737:chemistry
chemical_list: D000911:Antibodies, Monoclonal; D016189:Dystrophin