A truncated dystrophin lacking the C-terminal domains is localized at the muscle membrane.
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.
Helliwell
T R
TR
University Department of Pathology, Royal Liverpool Hospital, United Kingdom.
Ellis
J M
JM
Mountford
R C
RC
Appleton
R E
RE
Morris
G E
GE
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
D000911:Antibodies, Monoclonal; D016189:Dystrophin