Article
Loss of function mutations of the human melanocortin 1 receptor are common and are associated with red hair.
Biochemical and biophysical research communications - 5 Jul 1999
Schiöth H B, Phillips S R, Rudzish R, Birch-Machin M A, Wikberg J E, Rees J L
Abstract excerpt
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 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...
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