التفاصيل البيبلوغرافية
| العنوان: |
Genetic adaptation of skin pigmentation in highland Tibetans. |
| المؤلفون: |
Zhaohui Yang, Caijuan Bai, Youwei Pu, Qinghong Kong, Yongbo Guo, Ouzhuluobu, Gengdeng, Xuyang Liu, Qi Zhao, Zhichao Qiu, Wangshan Zheng, Yaoxi He, Yihan Lin, Lian Deng, Chao Zhang, Shuhua Xu, Yi Peng, Kun Xiang, Xiaoming Zhang, Baimayangji |
| المصدر: |
Proceedings of the National Academy of Sciences of the United States of America; 10/4/2022, Vol. 119 Issue 40, p1-11, 11p |
| مصطلحات موضوعية: |
TIBETANS, INDIGENOUS peoples, MELANOGENESIS, CHINESE people, ULTRAVIOLET radiation, GENETIC counseling |
| مستخلص: |
Strong ultraviolet (UV) radiation at high altitude imposes a serious selective pressure, which may induce skin pigmentation adaptation of indigenous populations. We conducted 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. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
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