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Loss of function mutations of the human melanocortin 1 receptor are common and are associated with red hair.

Lookup NU author(s): Professor Mark Birch-MachinORCiD, Professor Jonathan Rees

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Abstract

The melanocortin 1 receptor is a G-protein-coupled receptor that acts as a control point for control of the eumelanin/phaeomelanin ratio in mouse hair. MC1 receptor loss of function function mutations lead to an increase in the ratio of phaeomelanin/eumelanin in many mammals resulting in yellow or red coat colours. We have previously shown that several common point mutations in the human MC1 receptor are overrepresented in North European redheads and in individuals with pale skin, In order to determine the functional significance of these changes we have carried out transfection and binding studies. Expression of the Val60Leu, Arg142His, Arg151Cys, Arg160Trp, and Asp294His receptors in COS 1 cells revealed that these receptors were unable to stimulate cAMP production as strongly as the wild type receptor in response to alpha-melanocyte-stimulating hormone stimulation, None of the mutant receptors displayed complete loss of alpha MSH binding, with only the Arg142His and Asp294His displaying a slight reduction in binding affinity. (C) 1999 Academic Press.

Publication metadata

Author(s): Birch-Machin MA; Rees JL; Schioth HB; Phillips SR; Rudzish R; Wikberg JES

Publication type: Article

Publication status: Published

Journal: Biochemical and Biophysical Research Communications

Year: 1999

Volume: 260

Issue: 2

Pages: 488-491

Print publication date: 05/07/1999

ISSN (print): 0006-291X

ISSN (electronic): 1090-2104

Publisher: Academic Press

URL: http://dx.doi.org/10.1006/bbrc.1999.0935

DOI: 10.1006/bbrc.1999.0935

PubMed id: 10403794

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