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Table of Contents
Vol. 52, No. 5, 1999
Issue release date: November 1999
Section title: Original Paper
Horm Res 1999;52:235–240
(DOI:10.1159/000023467)

Activating Mutation of GSα in McCune-Albright Syndrome Causes Skin Pigmentation by Tyrosinase Gene Activation on Affected Melanocytes

Kim 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

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Published online: May 17, 2000
Issue release date: November 1999

Number of Print Pages: 6
Number of Figures: 4
Number of Tables: 1

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: http://www.karger.com/HRP

Abstract

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.

© 2000 S. Karger AG, Basel


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Published online: May 17, 2000
Issue release date: November 1999

Number of Print Pages: 6
Number of Figures: 4
Number of Tables: 1

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: http://www.karger.com/HRP


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Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
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