Uncovering Signals of Positive Selection in Peruvian Populations from Three Ecological Regions.
Uncovering Signals of Positive Selection in Peruvian Populations from Three Ecological Regions.
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揭示来自三个生态区的秘鲁种群的积极选择信号。
DOI：
10.1093/molbev/msac158
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发表时间：
2022-08-03
影响因子：
10.7
通讯作者：
Bosch, Elena
中科院分区：
文献类型：
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作者：
Caro-Consuegra, Rocio;Nieves-Colon, Maria A.;Rawls, Erin;Rubin-de-Celis, Veronica;Lizarraga, Beatriz;Vidaurre, Tatiana;Sandoval, Karla;Fejerman, Laura;Stone, Anne C.;Moreno-Estrada, Andres;Bosch, Elena
秘鲁拥有极其多样化的生态系统，大致可分为以下三个主要生态区：太平洋沙漠海岸、安第斯高地和亚马逊雨林。自从大约12，000年前开始有人居住以来，居住在这些生态区的人口可能已经差异化地适应了他们截然不同的环境压力。先前的研究已经描述了安第斯高地人适应低压缺氧的几个候选基因。然而，沿海和热带雨林种群的适应性遗传多样性研究较少。在这里，我们收集了来自生活在三个生态区的286名秘鲁人的全基因组单核苷酸多态性阵列数据，并通过群体分化和基于单倍型的选择扫描分析了最近正选择的信号。在高原人群中，我们确定了与心血管功能（TLL 1，DUSP 27，TBX 5，PLXNA 4，SGCD），缺氧诱导因子途径（TGFA，APIP），皮肤色素沉着（MITF）以及葡萄糖（GLIS 3）和糖原代谢（PPP 1 R3 C，GANC）相关的候选基因。相比之下，沿海和热带雨林种群中的大多数适应特征都包含与免疫系统相关的候选基因（包括沿海的SIGLEC 8，TRIM 21，CD 44和ICAM 1;热带雨林中的CBLB和PRDM 1;以及两者中的BRD 2，HLA-DOA，HLA-DPA 1区域），这可能是强大的病原体驱动选择的结果。这项研究确定了与人类适应南美洲不同环境有关的候选基因。
Peru hosts extremely diverse ecosystems which can be broadly classified into the following three major ecoregions: the Pacific desert coast, the Andean highlands, and the Amazon rainforest. Since its initial peopling approximately 12,000 years ago, the populations inhabiting such ecoregions might have differentially adapted to their contrasting environmental pressures. Previous studies have described several candidate genes underlying adaptation to hypobaric hypoxia among Andean highlanders. However, the adaptive genetic diversity of coastal and rainforest populations has been less studied. Here, we gathered genome-wide single-nucleotide polymorphism-array data from 286 Peruvians living across the three ecoregions and analyzed signals of recent positive selection through population differentiation and haplotype-based selection scans. Among highland populations, we identify candidate genes related to cardiovascular function (TLL1, DUSP27, TBX5, PLXNA4, SGCD), to the Hypoxia-Inducible Factor pathway (TGFA, APIP), to skin pigmentation (MITF), as well as to glucose (GLIS3) and glycogen metabolism (PPP1R3C, GANC). In contrast, most signatures of adaptation in coastal and rainforest populations comprise candidate genes related to the immune system (including SIGLEC8, TRIM21, CD44, and ICAM1 in the coast; CBLB and PRDM1 in the rainforest; and BRD2, HLA-DOA, HLA-DPA1 regions in both), possibly as a result of strong pathogen-driven selection. This study identifies candidate genes related to human adaptation to the diverse environments of South America.
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影响因子：
2.9
作者：
Bigham, Abigail W.;Wilson, Megan J.;Shriver, Mark D.
通讯作者：
Shriver, Mark D.
影响因子：
--
作者：
Baaten, Bas Jg;Li, Cheng-Rui;Bradley, Linda M
通讯作者：
Bradley, Linda M
影响因子：
5.8
作者：
Behr, Aaron A.;Liu, Katherine Z.;Ramachandran, Sohini
通讯作者：
Ramachandran, Sohini
影响因子：
4.5
作者：
Bigham A;Bauchet M;Pinto D;Mao X;Akey JM;Mei R;Scherer SW;Julian CG;Wilson MJ;López Herráez D;Brutsaert T;Parra EJ;Moore LG;Shriver MD
通讯作者：
Shriver MD
DOI：
10.1073/pnas.1620541114
发表时间：
2017-02-28
影响因子：
11.1
作者：
Amorim, Carlos Eduardo G.;Nunes, Kelly;Hunemeier, Tabita
通讯作者：
Hunemeier, Tabita