Recently, we reported the detection by two-dimensional gel electrophoresis of a 56,000 (56K)-molecular weight polypeptide that was present in cultured skin fibroblasts from normal males but was not detectable in fibroblasts from Duchenne muscular dystrophy (DMD) patients1. Since then we have established that the 56K polypeptide is not present in skin fibroblasts from normal females, DMD carrier females, or in normal male fibroblasts obtained from sources other than the Repository for Mutant Human Cell Strains, Montreal. Further inquiry has led to the discovery that all the normal male fibroblast cultures obtained from the Montreal repository had been established from preputial skin. Fibroblast cultures from DMD patients, DMD carriers, as well as other normal individuals, had been derived from non-genital skin biopsies. Thus, the absence of the 56K polypeptide is not specific for DMD, but rather is related to the site of skin biopsy.
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Thompson, R., Nickel, B., Finlayson, S. et al. 56K fibroblast protein not specific for Duchenne muscular dystrophy but for skin biopsy site. Nature 304, 740–741 (1983). https://doi.org/10.1038/304740a0
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