摘要： 近期的研究表明，哺乳动物黑素细胞中黑色素皮质素受体1（MC1R）对调节棕黑色素和红黄色素的合成起关键的作用。MC1R基因的变异与动物的皮毛、人的皮肤和头发颜色差异密切相关。对小鼠的遗传学研究显示，MC1R是独特的、双功能控制受体。它由α-促黑色素皮质激素激活，其拮抗物为agouti蛋白，二者的共同作用导致哺乳动物表皮颜色的变异。另外，人类皮肤的色素沉着是决定于皮肤对外辐射的反应，以及由此引发皮肤癌的重要因素。MC1R变异与黑色素癌易感性相关。

Genotype,Melanocortin 1 Receptor and Ultrviolet Radiation
Lü Xue-mei,SHI Peng,ZHANG Ya-ping
Lab of Cellular & Molecular Evolution,Kunming Institute of Zoology,the Chinese Academy of Sciences,Kunming 650223,China
Abstract:Recent work on the melanocortin 1 receptor (MC1R) suggests that MC1R plays a central role in regulation of eumelanin (brwon/black melanins) and phaeomelanin (red/yellow melanins) synthesis within the mammalian melanocyte.In the mouse,genetic studies show that the MC1R appears to be a unique,bifunctionally controlled receptor,activated by α–MSH and antagonized by agouti,both of which contribute to the variability seen in mammalian coat color.Variants of this receptor are associated with different animal's coat,human skin and hair colors.In addition,cutaneous pigmentation is a major determinant of the cutaneous response to ultraviolet radiation,and consequently of the risk of developing skin cancer.MC1R variants are a risk factor for melanoma susceptibility.
Key words：Melanocortin-1 receptor gene; MC1R variants; ultraviolet radiation; skin and hair colors; skin cancer

关键词: 皮肤和毛发颜色, 皮肤癌, 紫外线辐射, MC1R变异, 黑色素皮质素受体-1基因