Activating Mutation of GSα in McCune-Albright Syndrome Causes Skin Pigmentation by Tyrosinase Gene Activation on Affected MelanocytesKim I.a · Kim E.R.a · Nam H.J.a · Chin M.O.a · Moon Y.H.a · Oh M.R.b · Yeo U.C.c · Song S.M.d · Kim J.S.d · Uhm M.R.d · Beck N.S.d · Jin D.K.b,d
aDepartment of Pediatrics, SungAe General Hospital, SungAe Life Science Research Institute, bSamsung Biomedical Research Institute, and Departments of cDermatology and dPediatrics, Sungkyunkwan University School of Medicine, Seoul, Korea Horm Res 1999;52:235–240 (DOI:10.1159/000023467)
McCune-Albright syndrome (MAS) is a sporadic disease characterized by café-au-lait spots, polyostotic fibrous dysplasia and hyperfunctional endocrinopathies. To elucidate the mechanism of skin pigmentation, melanocytes, keratinocytes and fibroblasts were primary cultured from the café-au-lait spot of a MAS patient. Then, mutational analysis and morphologic evaluation were performed. Also, cAMP level and tyrosinase gene expression in cultured cells were determined. Only Gsα mutation was found in affected melanocytes and the cAMP level in affected melanocytes was higher than that of normal melanocytes. The mRNA expression of tyrosinase gene was increased in the affected melanocytes. This study suggests that skin pigmentation of MAS results from activating mutation of Gsα in melanocytes and the mechanism involves the c-AMP-mediated tyrosinase gene activation.
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