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Literature DB >> 9571181

Human pigmentation phenotype: a point mutation generates nonfunctional MSH receptor.

P A Frändberg¹, M Doufexis, S Kapas, V Chhájlani.

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.

Entities: Chemical Disease Gene Mutation Species

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Year: 1998 PMID： 9571181 DOI： 10.1006/bbrc.1998.8459

Source DB: PubMed Journal: Biochem Biophys Res Commun ISSN： 0006-291X Impact factor: 3.575

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Cited

22 in total

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Human pigmentation phenotype: a point mutation generates nonfunctional MSH receptor.

1. Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma.

2. Influence of oligomerization on the dynamics of G-protein coupled receptors as assessed by normal mode analysis.

Review 3. Growth factors and oncogenes as targets in melanoma: lost in translation?

4. Pharmacological and functional characterization of the guinea-pig B2 bradykinin receptor stably expressed in CHO-K1 cell line.

5. cAMP-independent non-pigmentary actions of variant melanocortin 1 receptor: AKT-mediated activation of protective responses to oxidative DNA damage.

6. A high-coverage genome sequence from an archaic Denisovan individual.

7. Evidence for variable selective pressures at MC1R.

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