Professor Emeritus, Department of Genetics, Yale University School of Medicine, P.O. Box 208005, New Haven, CT, 06520-8005, USA.
Biological and Environmental Sciences, Troy University, Dothan, AL, 36303, USA.
Sci Rep. 2020 Sep 22;10(1):15433. doi: 10.1038/s41598-020-72262-6.
Oculocutaneous Albinism type 2 (OCA2) is a gene of great interest because of genetic variation affecting normal pigmentation variation in humans. The diverse geographic patterns for variant frequencies at OCA2 have been evident but have not been systematically investigated, especially outside of Europe. Here we examine population genetic variation in and near the OCA2 gene from a worldwide perspective. The very different patterns of genetic variation found across world regions suggest strong selection effects may have been at work over time. For example, analyses involving the variants that affect pigmentation of the iris argue that the derived allele of the rs1800407 single nucleotide polymorphism, which produces a hypomorphic protein, may have contributed to the previously demonstrated positive selection in Europe for the enhancer variant responsible for light eye color. More study is needed on the relationships of the genetic variation at OCA2 to variation in pigmentation in areas beyond Europe.
眼皮肤白化病 2 型（OCA2）是一个非常有趣的基因，因为其遗传变异会影响人类正常的色素沉着变异。OCA2 变体频率的地理分布模式多种多样，但尚未进行系统研究，尤其是在欧洲以外地区。本文从全球视角研究 OCA2 基因及其附近的种群遗传变异。世界各地发现的遗传变异模式差异很大，这表明随着时间的推移，可能存在强烈的选择效应。例如，对影响虹膜色素沉着的变异的分析表明，导致产生功能减弱蛋白的 rs1800407 单核苷酸多态性的衍生等位基因，可能促成了先前在欧洲对导致浅色眼睛颜色的增强子变异的正选择。需要进一步研究 OCA2 基因的遗传变异与欧洲以外地区色素沉着变异的关系。
