Shared gene ontology terms from Convergent evolution in human and domesticate adaptation to high-altitude environments

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'.

数千年来，人类及其驯养动物已在全球各地的高海拔环境中繁衍生息。这些种群演化出多种适应性机制以在低氧（hypoxic）环境中存活，此前已有多项基因组学研究致力于识别驱动这些适应性演化的基因。本文将探讨已在人类与驯养动物种群中被确认具有适应性的各类适应性性状与遗传变异，以及这些种群适应高海拔环境过程中所呈现的趋同演化（convergent evolution）模式。研究发现，人类与驯养种群适应低氧环境的路径具有相似性。尽管不同种群的特异性遗传变异存在差异，但多个种群的高海拔适应性演化均涉及特定基因与生物学通路。此外，本研究发现EPAS1基因常为低氧环境下的选择靶标，并参与了多起适应性渐渗（adaptive introgression）事件。高海拔环境施加了强烈的选择压力，人类与动物种群由此演化出趋同的适应性策略以应对长期缺氧状况。本文隶属于专题合集《基因组学时代的趋同演化：新认知与研究方向》（Convergent evolution in the genomics era: new insights and directions）。