The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle
- 1 June 1988
- journal article
- Published by Springer Science and Business Media LLC in Nature
- Vol. 333 (6172), 466-469
- https://doi.org/10.1038/333466a0
Abstract
Duchenne muscular dystrophy (DMD) and its milder form, Becker muscular dystrophy (BMD), are allelic X-linked muscle disorders in man. The gene responsible for the disease has been cloned from knowledge of its map location at band Xp21 on the short arm of the X chromosome. The product of the DMD gene, a protein of relative molecular mass 400,000 (Mr 400K) recently named dystrophin, has been reported to co-purify with triads of mouse and rabbit skeletal muscle when assayed using polyclonal antibodies raised against fusion proteins encoded by regions of mouse DMD complementary DNA. Here we show that antibodies directed against synthetic peptides and fusion proteins derived from the N-terminal region of human DMD cDNA strongly react with an antigen present in skeletal muscle sarcolemma on cryostat sections of normal human muscle biopsies. This immunoreactivity is reduced or absent in muscle fibres from DMD patients but appears normal in muscle fibres from patients with other myopathic diseases. The same antibodies specifically react with a 400K protein in sodium dodecyl sulphate (SDS) extracts of normal human muscle subjected to Western blot analysis. We conclude that the product of the DMD gene is associated with the sarcolemma rather than with the triads and speculate that it strengthens the sarcolemma by anchoring elements of the internal cytoskeleton to the surface membrane.Keywords
This publication has 30 references indexed in Scilit:
- Molecular Genetics of Duchenne and Becker Muscular DystrophyInternational Review of Neurobiology, 1988
- Dystrophin: The protein product of the duchenne muscular dystrophy locusCell, 1987
- Subcellular fractionation of dystrophin to the triads of skeletal muscleNature, 1987
- Conservation of the Duchenne Muscular Dystrophy Gene in Mice and HumansScience, 1987
- Protein sequence of DMD gene is related to actin-binding domain of α-actininCell, 1987
- Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individualsCell, 1987
- A cDNA clone from the Duchenne/Becker muscular dystrophy geneNature, 1987
- Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy geneNature, 1986
- Rapid and Sensitive Protein Similarity SearchesScience, 1985
- I. Photoaffinity probes provide a general method to prepare synthetic peptide-conjugatesJournal of Protein Chemistry, 1984