Ancient DNA reveals selection acting on genes associated with hypoxia response in pre-Columbian Peruvian Highlanders in the last 8500 years.
Ancient DNA reveals selection acting on genes associated with hypoxia response in pre-Columbian Peruvian Highlanders in the last 8500 years.
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DOI：
10.1038/srep23485
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发表时间：
2016-03-21
影响因子：
4.6
通讯作者：
Georges L
中科院分区：
文献类型：
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作者：
Fehren-Schmitz L;Georges L
考古证据表明，人类大约在12,000年前开始在高海拔的安第斯山脉生活。众所周知，安第斯高地人发展出了前哥伦布时期南美洲最复杂的社会，尽管他们的健康和生殖成功受到长期缺氧的挑战。虽然对这种环境压力的生理适应在当代安第斯高地人中得到了很好的研究，但与这种适应相关的分子进化过程仍不清楚。我们的目标是更好地了解人类如何设法在这个恶劣的环境中建立人口统计学解决一个中心问题：暴露于缺氧驱动适应通过自然选择在安第斯山脉人口或现有的表型-其特征是减少对缺氧应激的敏感性-使人类定居的安第斯山脉？我们基因分型的NOS 3和EGLN 1基因的三个可变位点以前与适应高海拔地区的150个古人类DNA样本从秘鲁高海拔和沿海低海拔地区之间的时间框架约8500-560 BP。我们将109个成功样本的数据与自然选择遗传漂变的正向模拟进行比较，发现选择而不是漂变解释了在高原人群中观察到的三个SNP中的两个SNP的逐渐频率变化。
Archaeological evidence shows that humans began living in the high altitude Andes approximately 12,000 years ago. Andean highlanders are known to have developed the most complex societies of pre-Columbian South America despite challenges to their health and reproductive success resulting from chronic exposure to hypoxia. While the physiological adaptations to this environmental stressor are well studied in contemporary Andean highlanders, the molecular evolutionary processes associated with such adaptations remain unclear. We aim to better understand how humans managed to demographically establish in this harsh environment by addressing a central question: did exposure to hypoxia drive adaptation via natural selection within Andean populations or did an existing phenotype –characterized by reduced susceptibility to hypoxic stress–enable human settlement of the Andes? We genotyped three variable loci within the NOS3 and EGLN1 genes previously associated with adaptation to high altitude in 150 ancient human DNA samples from Peruvian high altitude and coastal low altitude sites in a time frame between ~8500–560 BP. We compare the data of 109 successful samples to forward simulations of genetic drift with natural selection and find that selection, rather than drift, explains the gradual frequency changes observed in the highland populations for two of the three SNPs.