1 Cell and Molecular Biology, University of California-Merced , 5200 Lake Road., Merced, CA 95340 , USA.
2 Ecology and Evolutionary Biology, Brown University , Box G-W, 80 Waterman Street, Providence, RI 02912 , USA.
Philos Trans R Soc Lond B Biol Sci. 2019 Jul 22;374(1777):20180235. doi: 10.1098/rstb.2018.0235. Epub 2019 Jun 3.
Humans and their domestic animals have lived and thrived in high-altitude environments worldwide for thousands of years. These populations have developed a number of adaptations to survive in a hypoxic environment, and several genomic studies have been conducted to identify the genes that drive these adaptations. Here, we discuss the various adaptations and genetic variants that have been identified as adaptive in human and domestic animal populations and the ways in which convergent evolution has occurred as these populations have adapted to high-altitude environments. We found that human and domesticate populations have adapted to hypoxic environments in similar ways. Specific genes and biological pathways have been involved in high-altitude adaptation for multiple populations, although the specific variants differ between populations. Additionally, we found that the gene EPAS1 is often a target of selection in hypoxic environments and has been involved in multiple adaptive introgression events. High-altitude environments exert strong selective pressures, and human and animal populations have evolved in convergent ways to cope with a chronic lack of oxygen. This article is part of the theme issue 'Convergent evolution in the genomics era: new insights and directions'.
人类及其家养动物数千年来一直在世界高海拔地区生存和繁衍。这些种群已经发展出许多适应低氧环境的能力，并且已经进行了多项基因组研究来确定驱动这些适应的基因。在这里，我们讨论了已被确定为人类和家畜种群适应的各种适应和遗传变异，以及这些种群适应高海拔环境时趋同进化是如何发生的。我们发现，人类和驯化种群以相似的方式适应低氧环境。虽然特定的变体在不同的人群之间有所不同，但特定的基因和生物途径已经参与了多个种群的高海拔适应。此外，我们发现 EPAS1 基因通常是低氧环境选择的目标，并参与了多个适应性基因渗入事件。高海拔环境施加了强大的选择压力，人类和动物种群以趋同的方式进化以应对慢性缺氧。本文是主题为“基因组时代的趋同进化：新的见解和方向”的一部分。
