Clio Dessinioti, Christina Antoniou, Andreas Katsambas and Alexander J. Stratigos Melanocortin 1 Receptor Variants: Functional Role and Pigmentary Associations Photochemistry and Photobiology 87
Article first published online: 17 AUG 2011 | DOI: 10.1111/j.1751-1097.2011.00970.x
Most published articles have studied the association of MC1R variants with skin cancer risk. However, it is of interest why this association exists and how MC1R variants influence the function of the MC1 receptor. Our manuscript provides an overview on how the melanocortin system regulates pigmentation, the effect of MC1R variants on the physiologic function of the MC1 receptor, and how specific MC1R variants are associated with distinct human pigmentation phenotypes. The study of the biochemical properties of variant MC1R has important implications for our understanding of the molecular basis of skin carcinogenesis, and will provide important clues to key aspects of MC1R function and association with defined human skin phenotypes and susceptibility to skin cancer.
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