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Genetic adaptation of skin pigmentation in highland Tibetans

文献类型：期刊论文

作者Yang, Zhaohui2,3,4; Bai, Caijuan5; Pu, Youwei3,4; Kong, Qinghong6; Guo, Yongbo2,7,8; Ouzhuluobu5; Gengdeng9; Liu, Xuyang4; Zhao, Qi4; Qiu, Zhichao4
刊名PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
出版日期2022-09-26
卷号119期号:40页码:11
ISSN号0027-8424
关键词high altitude Tibetan pigmentation adaptation
DOI10.1073/pnas.2200421119
英文摘要Strong ultraviolet (UV) radiation at high altitude imposes a serious selective pressure, which may induce skin pigmentation adaptation of indigenous populations. We con-ducted skin pigmentation phenotyping and genome-wide analysis of Tibetans in order to understand the underlying mechanism of adaptation to UV radiation. We observe that Tibetans have darker baseline skin color compared with lowland Han Chinese, as well as an improved tanning ability, suggesting a two-level adaptation to boost their melanin production. A genome-wide search for the responsible genes identifies GNPAT showing strong signals of positive selection in Tibetans. An enhancer mutation (rs75356281) located in GNPAT intron 2 is enriched in Tibetans (58%) but rare in other world populations (0 to 18%). The adaptive allele of rs75356281 is associated with darker skin in Tibetans and, under UVB treatment, it displays higher enhancer activities compared with the wild-type allele in in vitro luciferase assays. Transcriptome analyses of gene-edited cells clearly show that with UVB treatment, the adaptive variant of GNPAT promotes melanin synthesis, likely through the interactions of CAT and ACAA1 in peroxisomes with other pigmentation genes, and they act synergistically, leading to an improved tanning ability in Tibetans for UV protection.
资助项目National Supercomputing Center in Zhengzhou ; National Natural Science Foundation of China[32070579] ; National Natural Science Foundation of China[31601016] ; National Natural Science Foundation of China[32070578] ; National Natural Science Foundation of China[91631306] ; National Natural Science Foundation of China[32030020] ; National Natural Science Foundation of China[32041008] ; Strategic Priority Research Program of the Chinese Academy of Sciences[XDA20040102] ; Natural Science Foundation of Henan[222300420067] ; Provincial Key R&D Project of Tibetan Autonomous Region[XZ202201ZY0035G] ; Provincial Key R&D Project of Tibetan Autonomous Region[XZ202101ZY0009G] ; State Key Laboratory of Genetic Resources and Evolution[GREKF20-13] ; Shanghai Municipal Science and Technology Major Project[2017SHZDZX01] ; Innovation and Entrepreneurship Training Program for College Students[2021cxcy348]
WOS研究方向Science & Technology - Other Topics
语种英语
出版者NATL ACAD SCIENCES
WOS记录号WOS:000898598800004
源URL[http://ir.amss.ac.cn/handle/2S8OKBNM/60476]  
专题应用数学研究所
通讯作者Yang, Zhaohui; Qi, Xuebin; Su, Bing
作者单位1.Fudan Univ, Sch Life Sci, Collaborat Innovat Ctr Genet & Dev, State Key Lab Genet Engn, Shanghai 200438, Peoples R China
2.Chinese Acad Sci, Kunming Inst Zool, State Key Lab Genet Resources & Evolut, Kunming 650223, Yunnan, Peoples R China
3.Zhengzhou Univ, Acad Med Sci, Zhengzhou 450052, Peoples R China
4.Kunming Univ Sci & Technol, Inst Primate Translat Med, Yunnan Key Lab Primate Biomed Res, Kunming 650500, Yunnan, Peoples R China
5.Tibetan Univ, Sch Med, High Altitude Med Res Ctr, Lhasa 850000, Peoples R China
6.Zunyi Med Univ, Guizhou Prov Coll Based Key Lab Tumor Prevent & T, Zunyi 563000, Guizhou, Peoples R China
7.Chinese Acad Sci, Ctr Excellence Anim Evolut & Genet, Kunming 650223, Yunnan, Peoples R China
8.Univ Chinese Acad Sci, Kunming Coll Life Sci, Beijing 100101, Peoples R China
9.Qinghai High Altitude Med Res Inst, Natl Key Lab High Altitude Med, Xining 810012, Peoples R China
10.Chinese Acad Sci, Acad Math & Syst Sci, Beijing 100190, Peoples R China
推荐引用方式
GB/T 7714		 Yang, Zhaohui,Bai, Caijuan,Pu, Youwei,et al. Genetic adaptation of skin pigmentation in highland Tibetans[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,2022,119(40):11.
APA Yang, Zhaohui.,Bai, Caijuan.,Pu, Youwei.,Kong, Qinghong.,Guo, Yongbo.,...&Su, Bing.(2022).Genetic adaptation of skin pigmentation in highland Tibetans.PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,119(40),11.
MLA Yang, Zhaohui,et al."Genetic adaptation of skin pigmentation in highland Tibetans".PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 119.40(2022):11.

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来源：数学与系统科学研究院

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