A 71-Kilodalton Protein is a Major Product of the Duchenne Muscular Dystrophy Gene in Brain and Other Nonmuscle Tissues

• Published in: Proceedings of the National Academy of Sciences - PNAS Vol. 89; no. 12; pp. 5346 - 5350
• Main Authors: Lederfein, Doron, Levy, Zehava, Augier, Natalie, Mornet, Dominique, Morris, Glenn, Fuchs, Ora, Yaffe, David, Nudel, Uri
• Format: Journal Article
• Language: English
• Published: Washington, DC National Academy of Sciences of the United States of America 15-06-1992; National Acad Sciences; National Academy of Sciences
• Subjects: Amino Acid Sequence; Amino acids; Animals; Antibodies; Antibodies, Monoclonal; Base Sequence; Biological and medical sciences; Blotting, Western; brain; Brain - metabolism; Carcinoma, Hepatocellular; cDNA; Cell Line; Cloning, Molecular; Complementary DNA; Diseases of striated muscles. Neuromuscular diseases; DNA; DNA gene; Duchenne muscular dystrophy; Duchenne's muscular dystrophy; Dystrophin - analysis; Dystrophin - genetics; Epitopes; Exons; Genes; Genetics; Humans; Liver Neoplasms; Male; man; Medical research; Medical sciences; Messenger RNA; Molecular Sequence Data; Molecular Weight; Muscular Dystrophies - genetics; Muscular dystrophy; Neurology; nucleotide sequence; Organ Specificity; predictions; products; Protein Biosynthesis; Proteins; Rats; Ribonucleic acid; RNA; RNA, Messenger - genetics; RNA, Messenger - metabolism; Sequence Homology, Nucleic Acid; Transcription, Genetic; Human; Striated muscle disease; Nervous system diseases; Molecular structure; Gene product; Duchenne muscular dystrophy; Tissue specificity; Molecular cloning; Gene expression; Brain (vertebrata); Genetic disease
• ISSN: 0027-8424; 1091-6490
• DOI: 10.1073/pnas.89.12.5346

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 actinbinding 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.