Rees Jonathan L
Systems Group, Dermatology, University of Edinburgh, Lauriston Buildings, Lauriston Place, Edinburgh, EH3 9YW, United Kingdom.
Annu Rev Genet. 2003;37:67-90. doi: 10.1146/annurev.genet.37.110801.143233.
Differences in skin and hair color are principally genetically determined and are due to variation in the amount, type, and packaging of melanin polymers produced by melanocytes secreted into keratinocytes. Pigmentary phenotype is genetically complex and at a physiological level complicated. Genes determining a number of rare Mendelian disorders of pigmentation such as albinism have been identified, but only one gene, the melanocortin 1 receptor (MCR1), has so far been identified to explain variation in the normal population such as that leading to red hair, freckling, and sun-sensitivity. Genotype-phenotype relations of the MC1R are reviewed, as well as methods to improve the phenotypic assessment of human pigmentary status. It is argued that given advances in model systems, increases in technical facility, and the lower cost of genotype assessment, the lack of standardized phenotype assessment is now a major limit on advance.
皮肤和头发颜色的差异主要由基因决定，这是由于黑素细胞分泌到角质形成细胞中的黑色素聚合物在数量、类型和包装上存在差异。色素表型在遗传上很复杂，在生理层面也很复杂。已经确定了一些导致色素沉着罕见孟德尔疾病（如白化病）的基因，但到目前为止，仅发现一个基因——促黑素皮质素1受体（MCR1），可以解释正常人群中的变异，比如导致红头发、雀斑和对阳光敏感的变异。本文综述了MC1R的基因型-表型关系，以及改善人类色素沉着状态表型评估的方法。有人认为，鉴于模型系统的进展、技术设备的增加以及基因型评估成本的降低，目前缺乏标准化的表型评估是进展的主要限制因素。
