Human pigmentation phenotype:: A point mutation generates nonfunctional MSH receptor

被引：98

作者：

Frändberg, PA

Doufexis, M

Kapas, S

Chhajlani, V

机构：

[1] Biomed Ctr, Div Biol Res Drug Dependence, S-75124 Uppsala, Sweden

[2] St Bartholomews & Royal London Sch Med & Dent, Oral Dis Res Ctr, Mol Signalling Grp, London E1 2AD, England

来源：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 1998年 / 245卷 / 02期

关键词：

D O I：

10.1006/bbrc.1998.8459

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

alpha-Melanocyte stimulating hormone (alpha-MSH) regulates skin and hair pigmentation by modulating the activity of MSH receptor (MC1R), We have identified Arg151Cys variant of human MC1R in genomic DNA isolated from a person with red hair and Light skin of type I. The Arg151Cys variant of MC1R binds to radiolabelled analogue of alpha-MSH with identical affinity as wild type MC1R but can not be stimulated to produce cyclic AMP (cAMP), The mutation Arg151Cys renders human MC1R completely nonfunctional, which explains the red hair, Light skin and poor tanning ability (skin type I). This is the first report ever describing a nonfunctional MC1R isolated from a human subject. (C) 1998 Academic Press.

引用

页码：490 / 492

页数：3

共 11 条

[1] EFFECTS OF MELANOCYTE-STIMULATING HORMONE ON TYROSINASE EXPRESSION AND MELANIN SYNTHESIS IN HAIR FOLLICULAR MELANOCYTES OF THE MOUSE [J].