MC1R, the cAMP pathway, and the response to solar UV: extending the horizon beyond pigmentation.
MC1R, the cAMP pathway, and the response to solar UV: extending the horizon beyond pigmentation.
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DOI：
10.1111/pcmr.12257
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发表时间：
2014-09
影响因子：
4.3
通讯作者：
Jiménez-Cervantes C
中科院分区：
文献类型：
--
作者：
García-Borrón JC;Abdel-Malek Z;Jiménez-Cervantes C
黑皮质素1受体（MC1R）是一种G蛋白偶联受体，对黑素细胞增殖和功能的调节至关重要。在结合黑皮质素后，MC1R激活几个信号级联，特别是导致光保护性真黑素合成的cAMP途径。MC1R基因的多态性是人类头发颜色和皮肤色素沉着的正常变化、对紫外线辐射（UVR）的反应和皮肤癌易感性的主要来源。与色素沉着表型和皮肤癌风险增加密切相关的MC1R天然变异体数量惊人地高的鉴定促使了对野生型受体和常见突变等位基因的功能特性的研究。我们总结了目前的知识MC1R的结构和功能特性，以及它的细胞内运输和信号。我们还回顾了目前的知识MC1R作为皮肤癌，特别是黑色素瘤，易感基因的功能，以及它如何调节黑素细胞对紫外线辐射的反应。
The melanocortin 1 receptor (MC1R) is a G protein-coupled receptor crucial for the regulation of melanocyte proliferation and function. Upon binding melanocortins, MC1R activates several signaling cascades, notably the cAMP pathway leading to synthesis of photoprotective eumelanin. Polymorphisms in the MC1R gene are a major source of normal variation of human hair color and skin pigmentation, response to ultraviolet radiation (UVR) and skin cancer susceptibility. The identification of a surprisingly high number of MC1R natural variants strongly associated with pigmentary phenotypes and increased skin cancer risk has prompted research on the functional properties of the wild-type receptor and frequent mutant alleles. We summarize current knowledge on MC1R structural and functional properties, as well as on its intracellular trafficking and signaling. We also review the current knowledge about the function of MC1R as a skin cancer, particularly melanoma, susceptibility gene and how it modulates the response of melanocytes to UVR.
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影响因子：
6.1
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