title: Dystrophin or a "related protein" in Duchenne muscular dystrophy?
abstract: Previously we have shown low levels of dystrophin immunoreactivity in muscle from patients with DMD. According to the "frame-shift hypothesis" DMD muscle should not synthesize any dystrophin through to the C-terminus and it has been suggested that the protein detected is not dystrophin, but a related autosomal homologue. We have labelled serial sections of DMD muscle with specific monoclonal antibodies to the amino, rod and C-terminal domains of dystrophin and find labelling on the same individual fibres, allowing us to conclude that the protein detected is Xp21-encoded dystrophin. This has an impact on the interpretation of myoblast transfer experiments. The abundance (on blots) of "C-terminal dystrophin" appears lower than "rod dystrophin" in both BMD and DMD.
authors.affiliation: Muscular Dystrophy Group Research Laboratories, Newcastle General Hospital, England.
authors.forename: L V
authors.initials: LV
authors.lastname: Nicholson
authors.forename: M A
authors.initials: MA
authors.lastname: Johnson
authors.forename: K
authors.initials: K
authors.lastname: Davison
authors.forename: E
authors.initials: E
authors.lastname: O'Donnell
authors.forename: G
authors.initials: G
authors.lastname: Falkous
authors.forename: M
authors.initials: M
authors.lastname: Barron
authors.forename: J B
authors.initials: JB
authors.lastname: Harris
mesh_terms: D000911:Antibodies, Monoclonal; D001706:Biopsy; D015153:Blotting, Western; D002872:Chromosome Deletion; D002891:Chromosomes, Human, Pair 21; D015342:DNA Probes; D016189:Dystrophin / Q000032:analysis / Q000235:genetics*; D005091:Exons; D006801:Humans; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014960:X Chromosome
chemical_list: D000911:Antibodies, Monoclonal; D015342:DNA Probes; D016189:Dystrophin