Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1998 Apr 17;245(2):490-2.
doi: 10.1006/bbrc.1998.8459.

Human pigmentation phenotype: a point mutation generates nonfunctional MSH receptor

P A Frändberg  1 , M Doufexis, S Kapas, V Chhájlani
Affiliations

Human pigmentation phenotype: a point mutation generates nonfunctional MSH receptor

P A Frändberg et al. Biochem Biophys Res Commun. .

Abstract

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 radio-labelled 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.

PubMed Disclaimer

Publication types

LinkOut - more resources