Dystrophin

Literature References: Protein product of the human Duchenne muscular dystrophy (DMD) gene. Mol wt approx 400,000 daltons. Present in very small amounts in normal muscle (approx 0.002% of total muscle protein) but either absent or abnormal in muscular dystrophy patients. Thought to be an intracellular structural component of the plasma membrane system in normal muscle fibers. Complete cloning of DMD cDNA: M. Koenig et al., Cell 50, 509 (1987). Isoln of dystrophin from mouse and human muscle tissue: E. P. Hoffman et al., ibid. 51, 919 (1987). Subcellular localization studies: E. P. Hoffman et al., Nature 330, 754 (1987); C. M. Knudson et al., J. Biol. Chem. 263, 8480 (1988); E. E. Zubrzycka-Gaarn et al., Nature 333, 466 (1988); S. C. Watkins et al., ibid. 863. Amino acid sequence and structural similarity to a-actinin and to the cytoskeletal protein, spectrin: M. Koenig et al., Cell 53, 219 (1988). Characterization of DMD gene expression in normal and diseased human muscle: M. Oronzi Scott et al., Science 239, 1418 (1988); in animal muscle and brain: U. Nudel et al., Nature 331, 635 (1988). Differentiation of muscle and brain DMD mRNA: U. Nudel et al., ibid. 337, 76 (1989). Correlation of clinical phenotype with dystrophin abnormalities: E. P. Hoffman et al., N. Engl. J. Med. 318, 1363 (1988). Use of dystrophin cDNA for prenatal diagnosis and carrier detection in muscular dystrophy: B. T. Darras et al., Am. J. Med. Genet. 29, 713 (1988).