首页|Weakened tanning ability is an important mechanism for evolutionary skin lightening in East Asians

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

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The evolution of light-skin pigmentation among Eurasians is considered as 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 phenylalanine hydroxylase(PAH)in light-skinned Han Chinese individuals.The intron mutation rs10778203 in PAH is enriched in East Asians and is 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 show that the ancestral allele of rs10778203 could bind to SMAD2 and has a 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 shows a weaker ultraviolet radiation response in A375 cells and zebrafish embryos.Furthermore,rs10778203 decreases melanin production in transgenic zebrafish embryos after ultraviolet B(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.

East AsiansPAHSkin pigmentationNatural selectionGenetic adaptation

Youwei Pu、Siyu Pu、Yanyan Chen、Qinghong Kong、Xuyang Liu、Qi Zhao、Ke Xu、Jiuming Liu、Mengyuan Li、Xiaoyu Xu、Xiaoyang Qiao、Bing Su、Jing Chen、Zhaohui Yang

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Tianjian Laboratory of Advanced Biomedical Sciences,Academy of Medical Science,Zhengzhou University,Zhengzhou,Henan 450052,China

Department of Pediatric Surgery and Laboratory of Pediatric Surgery,West China Hospital,Sichuan University,Chengdu,Sichuan 610041,China

Guizhou Provincial College-based Key Lab for Tumor Prevention and Treatment with Distinctive Medicines,Zunyi Medical University,Zunyi,Guizhou 563000,China

Yunnan Key Laboratory of Primate Biomedical Research,Institute of Primate Translational Medicine,Kunming University of Science and Technology,Kunming,Yunnan 650500,China

State Key Laboratory of Genetic Resources and Evolution,Kunming Institute of Zoology,Chinese Academy of Sciences,Kunming,Yunnan 650223,China

Center for Excellence in Animal Evolution and Genetics,Chinese Academy of Sciences,Kunming,Yunnan 650223,China

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National Supercomputing Center in ZhengzhouNational Natural Science Foundation of ChinaNational Natural Science Foundation of ChinaNational Natural Science Foundation of ChinaNational Natural Science Foundation of ChinaNatural Science Foundation of HenanState Key Laboratory of Genetic Resources and Evolution GrantInnovation and Entrepreneurship Training ProgramInnovation and Entrepreneurship Training ProgramInnovation and Entrepreneurship Training Program1-3-5 project for disciplines of excellence of West China Hospital,Sichuan University1-3-5 project for disciplines of excellence of West China Hospital,Sichuan UniversityScience and Technology Department of Sichuan province

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2024

10.1016/j.jgg.2024.03.001

遗传学报
中国遗传学会 中国科学院遗传与发育生物学研究所

遗传学报

CSTPCD
影响因子：0.821
ISSN：1673-8527
年,卷(期)：2024.51(7)