Báo cáo Y học: Loss-of-function variants of the human melanocortin-1 receptor gene in melanoma cells define structural determinants of receptor function

Thea-melanocyte-stimulating hormone (aMSH) receptor (MC1R) is amajordeterminant ofmammalianskinandhair pigmentation. Binding ofaMSHtoMC1Rinhuman mel-anocytes stimulates cell proliferation and synthesis of pho-toprotective eumelanin pigments. Certain MC1Ralleles have been associated with increased riskof melanoma. This can be theoretically considered on two grounds. First, gain-of-function mutations may stimulate proliferation, thus promoting dysplastic lesions.