| Genetic adaptation of skin pigmentation in highland Tibetans |
| Yang, ZH; Bai, CJ; Pu, YW; Kong, QH; Guo, YB; Ouzhuluobu; Gengdeng; Liu, XY; Zhao, Q; Qiu, ZC; Zheng, WS; He, YX; Lin, YH; Deng, L; Zhang, C; Xu, SH; Peng, Y; Xiang, K; Zhang, XM; Baimayangji; Cirenyangji; Cui, CY; Baimakangzhuo; Gonggalanzi; Bianba; Pan, YY; Xin, JX; Wang, Y; Liu, SM; Wang, LB; Guo, HL; Feng, ZZ; Wang, SB; Shi, H; Jiang, BH; Wu, TY; Qi, XB ; Su, B
|
| 2022
|
| 发表期刊 | PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
 |
| ISSN | 0027-8424
|
| 卷号 | 119期号:40 |
| 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. |
| 收录类别 | sci
|
| 语种 | 英语
|
| 文献类型 | 期刊论文
|
| 条目标识符 | http://ir.kiz.ac.cn/handle/152453/13538
|
| 专题 | 科研部门_比较基因组学（宿兵）
|
推荐引用方式
GB/T 7714 |
Yang, ZH,Bai, CJ,Pu, YW,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).
|
| APA |
Yang, ZH.,Bai, CJ.,Pu, YW.,Kong, QH.,Guo, YB.,...&Su, B.(2022).Genetic adaptation of skin pigmentation in highland Tibetans.PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,119(40).
|
| MLA |
Yang, ZH,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).
|
修改评论