Dept. of Biological, Geological and Environmental Sciences, University of Bologna, Bologna, Italy.
IRCCS Istituto Delle Scienze Neurologiche Di Bologna, Bologna, Italy.
Genomics. 2024 May;116(3):110854. doi: 10.1016/j.ygeno.2024.110854. Epub 2024 May 1.
Several studies demonstrated that populations living in the Tibetan plateau are genetically and physiologically adapted to high-altitude conditions, showing genomic signatures ascribable to the action of natural selection. However, so far most of them relied solely on inferences drawn from the analysis of coding variants and point mutations. To fill this gap, we focused on the possible role of polymorphic transposable elements in influencing the adaptation of Tibetan and Sherpa highlanders. To do so, we compared high-altitude and middle/low-lander individuals of East Asian ancestry by performing in silico analyses and differentiation tests on 118 modern and ancient samples. We detected several transposable elements associated with high altitude, which map genes involved in cardiovascular, hematological, chem-dependent and respiratory conditions, suggesting that metabolic and signaling pathways taking part in these functions are disproportionately impacted by the effect of environmental stressors in high-altitude individuals. To our knowledge, our study is the first hinting to a possible role of transposable elements in the adaptation of Tibetan and Sherpa highlanders.
多项研究表明，生活在青藏高原的人群在基因和生理上适应了高海拔环境，表现出可归因于自然选择作用的基因组特征。然而，到目前为止，大多数研究仅依赖于对编码变异和点突变分析的推断。为了填补这一空白，我们专注于多态转座元件在影响藏人和夏尔巴高原人群适应中的可能作用。为此，我们通过对 118 个现代和古代样本进行计算机分析和分化测试，比较了东亚血统的高海拔和中/低海拔个体。我们检测到了一些与高海拔相关的转座元件，这些元件映射了涉及心血管、血液、化学依赖和呼吸条件的基因，这表明参与这些功能的代谢和信号通路受到高海拔个体环境应激因素的不成比例影响。据我们所知，我们的研究首次暗示了转座元件在藏人和夏尔巴高原人群适应中的可能作用。
