Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation
Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation
复制标题
DOI：
10.1093/hmg/9.17.2531
复制
发表时间：
2000-10-12
影响因子：
3.5
通讯作者：
Rees, JL
中科院分区：
文献类型：
--
作者：
Flanagan, N;Healy, E;Rees, JL
黑皮质素1受体（MC1R）基因的变异体在红头发和白皙皮肤的个体中很常见，但在高加索人群中存在的多个等位基因的该基因座变异体的杂合子、纯合子和复合杂合子中对这些色素性状的相对贡献尚不清楚。我们已经调查了174个来自11个大家族的红头发占优势的个体和另外99个无关的红发人，为MC1R变体，并证实了红头发通常是作为隐性特征遗传的，在这个位点上有R151C，R160W，D294H，R142H，86insA和537insC等位基因。V60L变异在人群中很常见，可能是一个部分外显的隐性等位基因。这些个体加上167名随机确定的高加索人证明，两个等位基因R151C和537insC的杂合子具有显着升高的红发风险，杂合子和纯合子的红头发颜色经常不同。复合杂合子，也有证据表明杂合子对胡须头发颜色，皮肤类型和雀斑的影响。这些数据为MC1R变体对头发和皮肤颜色的剂量效应提供了证据。
Variants of the melanocortin 1 receptor(MC1R) gene are common in individuals with red hair and fair skin, but the relative contribution to these pigmentary traits in heterozygotes, homozygotes and compound heterozygotes for variants at this locus from the multiple alleles present in Caucasian populations is unclear. We have investigated 174 individuals from 11 large kindreds with a preponderance of red hair and an additional 99 unrelated redheads, for MC1R variants and have confirmed that red hair is usually inherited as a recessive characteristic with the R151C, R160W, D294H, R142H, 86insA and 537insC alleles at this locus. The V60L variant, which is common in the population may act as a partially penetrant recessive allele, These individuals plus 167 randomly ascertained Caucasians demonstrate that heterozygotes for two alleles, R151C and 537insC, have a significantly elevated risk of red hair, The shade of red hair frequently differs in heterozygotes from that in homozygotes/compound heterozygotes and there is also evidence for a heterozygote effect on beard hair colour, skin type and freckling. The data provide evidence for a dosage effect of MC1R variants on hair as well as skin colour.