title: Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy.
abstract: Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive disorder of muscle in children. The DMD gene product, "dystrophin", is absent from DMD, while the allelic disease, Becker muscular dystrophy (BMD), exhibits dystrophin of abnormal size and/or quantity. But we are still uncertain about the scenario that internally deleted (or duplicated) dystrophin in BMD possesses its carboxy (C)-terminal region, and severely truncated dystrophin in DMD does not. Here we use a new monoclonal antibody directed against an peptide in the C-terminal end of the dystrophin molecule to show that the C-terminus is preserved in 30 BMD and 24 control skeletal muscles but not in 21 DMD specimens. This result, taken together with data on deletions of the dystrophin gene, emphasizes both the diagnostic and biological importance of the C-terminal domain which is required for proper function and stability of dystrophin, and substantiates the validity of the reading frame hypothesis for DMD versus BMD deletions on a biochemical level.
authors.affiliation: National Institute of Neuroscience, NCNP, Tokyo, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Arahata
authors.forename: A H
authors.initials: AH
authors.lastname: Beggs
authors.forename: H
authors.initials: H
authors.lastname: Honda
authors.forename: S
authors.initials: S
authors.lastname: Ito
authors.forename: S
authors.initials: S
authors.lastname: Ishiura
authors.forename: T
authors.initials: T
authors.lastname: Tsukahara
authors.forename: T
authors.initials: T
authors.lastname: Ishiguro
authors.forename: C
authors.initials: C
authors.lastname: Eguchi
authors.forename: S
authors.initials: S
authors.lastname: Orimo
authors.forename: E
authors.initials: E
authors.lastname: Arikawa
mesh_terms: D000595:Amino Acid Sequence; D000911:Antibodies, Monoclonal / Q000276:immunology; D000918:Antibody Specificity; D002872:Chromosome Deletion; D016189:Dystrophin / Q000737:chemistry* / Q000172:deficiency / Q000235:genetics / Q000276:immunology; D005091:Exons; D016368:Frameshift Mutation; D005796:Genes; D006801:Humans; D008297:Male; D008957:Models, Genetic; D008969:Molecular Sequence Data; D009132:Muscles / Q000737:chemistry* / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism* / Q000473:pathology
chemical_list: D000911:Antibodies, Monoclonal; D016189:Dystrophin