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Titolo:
Activating mutation of GS alpha in McCune-Albright syndrome causes skim pigmentation by tyrosinase gene activation on affected melanocytes
Autore:
Kim, IS; Kima, ER; Nam, HJ; Chin, MO; Moon, YH; Oh, MR; Yeo, UC; Song, SM; Kim, JS; Uhm, MR; Beck, NS; Jin, DK;
Indirizzi:
Sung Kyun Kwan Univ, Sch Med, Samsung Med Ctr, Dept Pediat, Seoul 135710, South Korea Sung Kyun Kwan Univ Seoul South Korea 135710 , Seoul 135710, South Korea Sung Kyun Kwan Univ, Sch Med, Samsung Biomed Res Inst, Seoul, South Korea Sung Kyun Kwan Univ Seoul South Korea omed Res Inst, Seoul, South Korea Sung Kyun Kwan Univ, Sch Med, Dept Dermatol, Seoul, South Korea Sung Kyun Kwan Univ Seoul South Korea Dept Dermatol, Seoul, South Korea SungAe Gen Hosp, SungAe Life Res Inst, Dept Pediat, Seoul, South Korea SungAe Gen Hosp Seoul South Korea Inst, Dept Pediat, Seoul, South Korea
Titolo Testata:
HORMONE RESEARCH
fascicolo: 5, volume: 52, anno: 1999,
pagine: 235 - 240
SICI:
0301-0163(199911)52:5<235:AMOGAI>2.0.ZU;2-9
Fonte:
ISI
Lingua:
ENG
Soggetto:
STIMULATORY G-PROTEIN; MOLECULAR-BASIS; DISEASE; SUBUNIT;
Keywords:
McCune-Albright syndrome; G proteins; pigmentation; melanocytes;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
19
Recensione:
Indirizzi per estratti:
Indirizzo: Jin, DK Sung Kyun Kwan Univ, Sch Med, Samsung Med Ctr, Dept Pediat, 50 Ilwon Dong,Seoul 135710, South Korea Sung Kyun Kwan Univ 50 Ilwon Dong Seoul South Korea 135710 Korea
Citazione:
I.S. Kim et al., "Activating mutation of GS alpha in McCune-Albright syndrome causes skim pigmentation by tyrosinase gene activation on affected melanocytes", HORMONE RES, 52(5), 1999, pp. 235-240

Abstract

McCune-Albright syndrome (MAS) is a sporadic disease characterized by cafe-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 cafe-au-lait spot of a MAS patient. Then, mutational analysis and morphologic evaluation wereperformed. Also, cAMP level and tyrosinase gene expression in cultured cells were determined. Only Gsa mutation was found in affected melanocytes andthe 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 Gs alpha in melanocytes and the mechanism involves the c-AMP-mediated tyrosinase gene activation. Copyright (C) 2000 S. Karger AG, Basel.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/11/20 alle ore 09:05:23