A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues.
The known Duchenne muscular dystrophy (DMD) gene products, the muscle- and brain-type dystrophin isoforms, are 427-kDa proteins translated from 14-kilobase (kb) mRNAs. Recently we described a 6.5-kb mRNA that also is transcribed from the DMD gene. Cloning and in vitro transcription and translation of the entire coding region show that the 6.5-kb mRNA encodes a 70.8-kDa protein that is a major product of the DMD gene. It contains the C-terminal and the cysteine-rich domains of dystrophin, seven additional amino acids at the N terminus, and some modifications formed by alternative splicing in the C-terminal domain. It lacks the entire large domain of spectrin-like repeats and the actin-binding N-terminal domain of dystrophin. This protein is the major DMD gene product in brain and other nonmuscle tissues but is undetectable in skeletal muscle extracts.
Lederfein
D
D
Department of Cell Biology, Weizmann Institute of Science, Rehovot, Israel.
Levy
Z
Z
Augier
N
N
Mornet
D
D
Morris
G
G
Fuchs
O
O
Yaffe
D
D
Nudel
U
U
D000595:Amino Acid Sequence; D000818:Animals; D000911:Antibodies, Monoclonal; D001483:Base Sequence; D015153:Blotting, Western; D001921:Brain / Q000378:metabolism*; D006528:Carcinoma, Hepatocellular; D002460:Cell Line; D003001:Cloning, Molecular; D016189:Dystrophin / Q000032:analysis / Q000235:genetics*; D006801:Humans; D008113:Liver Neoplasms; D008297:Male; D008969:Molecular Sequence Data; D008970:Molecular Weight; D009136:Muscular Dystrophies / Q000235:genetics*; D009928:Organ Specificity; D014176:Protein Biosynthesis; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D051381:Rats; D012689:Sequence Homology, Nucleic Acid; D014158:Transcription, Genetic
D000911:Antibodies, Monoclonal; D016189:Dystrophin; D012333:RNA, Messenger