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日晒能力减弱是东亚人皮肤美白演化的一个重要机制
作者:小柯机器人 发布时间:2024/3/13 9:30:05

近日,郑州大学Zhaohui Yang等研究人员合作发现,日晒能力减弱是东亚人皮肤美白演化的一个重要机制。相关论文于2024年3月8日发表于国际学术期刊《遗传学报》。

研究人员报告了浅肤色汉族个体中色素基因PAH的强选择信号。PAH的内含子突变rs10778203在东亚人中富集,并与汉族男性手背的肤色显著相关(P<0.05)。体外荧光素酶和转录因子结合试验显示,rs10778203的祖先等位基因可与SMAD2结合,对PAH具有明显的增强活性。然而,rs10778203的衍生T等位基因(东亚人的主要等位基因)会降低转录因子的结合活性和增强子活性。同时,在A375细胞和斑马鱼胚胎中,rs10778203的T等位基因对紫外线辐射的反应较弱。
 
此外,rs10778203 还能减少转基因斑马鱼胚胎在紫外线照射后黑色素的生成。总之,PAH 是一个潜在的色素沉着基因,能调节皮肤晒黑的能力。自然选择富集了适应性等位基因,导致东亚人的皮肤晒黑能力减弱,这表明东亚人的皮肤美白演化具有独特的遗传机制。

研究人员表示,欧亚人皮肤色素浅的演化被认为是对高纬度环境的适应。由于东亚环境复杂,东亚人是研究肤色演化的理想人群。

附:英文原文

Title: Weakened tanning ability is an important mechanism for evolutionary skin lightening in East Asians

Author: anonymous

Issue&Volume: 2024/03/08

Abstract: The evolution of light skin pigmentation among Eurasians is considered an adaptation to the high-latitude environments. East Asians are ideal populations for studying skin color evolution because of the complex environment of East Asia. Here, we report a strong selection signal for the pigmentation gene PAH in light-skinned Han Chinese individuals. The intron mutation rs10778203 in PAH was enriched in East Asians and significantly associated with skin color of the back of the hand in Han Chinese males (P <0.05). In vitro luciferase and transcription factor binding assays showed that the ancestral allele of rs10778203 could bind to SMAD2 and has significant enhancer activity for PAH. However, the derived T allele (the major allele in East Asians) of rs10778203 decreases the binding activity of transcription factors and enhancer activity. Meanwhile, the derived T allele of rs10778203 showed a weaker ultraviolet radiation response in A375 cells and zebrafish embryos. Furthermore, rs10778203 decreases melanin production in transgenic zebrafish embryos after UVB treatment. Collectively, PAH is a potential pigmentation gene that regulates skin tanning ability. Natural selection has enriched the adaptive allele, resulting in weakened tanning ability in East Asians, suggesting a unique genetic mechanism for evolutionary skin lightening in East Asians.

DOI: 10.1016/j.jgg.2024.03.001

Source: https://www.sciencedirect.com/science/article/abs/pii/S1673852724000389

期刊信息

Journal of Genetics and Genomics《遗传学报》,创刊于1974年。隶属于爱思唯尔出版集团,最新IF:5.9

官方网址:https://www.sciencedirect.com/journal/journal-of-genetics-and-genomics
投稿链接:https://www2.cloud.editorialmanager.com/jgg/default2.aspx