藏族人群结构变异的特征揭示了高原适应和基因渗入的新证据。
Characterization of structural variation in Tibetans reveals new evidence of high-altitude adaptation and introgression.
机构信息
Department of Genetics & Integrative Omics, State Key Laboratory of Proteomics, National Center for Protein Sciences, Beijing Institute of Radiation Medicine, 27 Taiping Road, Beijing, 100850, People's Republic of China.
Hebei University, Baoding, Hebei Province, 071002, People's Republic of China.
出版信息
Genome Biol. 2021 May 25;22(1):159. doi: 10.1186/s13059-021-02382-3.
BACKGROUND
Structural variation (SV) acts as an essential mutational force shaping the evolution and function of the human genome. However, few studies have examined the role of SVs in high-altitude adaptation and little is known of adaptive introgressed SVs in Tibetans so far.
RESULTS
Here, we generate a comprehensive catalog of SVs in a Chinese Tibetan (n = 15) and Han (n = 10) population using nanopore sequencing technology. Among a total of 38,216 unique SVs in the catalog, 27% are sequence-resolved for the first time. We systematically assess the distribution of these SVs across repeat sequences and functional genomic regions. Through genotyping in additional 276 genomes, we identify 69 Tibetan-Han stratified SVs and 80 candidate adaptive genes. We also discover a few adaptive introgressed SV candidates and provide evidence for a deletion of 335 base pairs at 1p36.32.
CONCLUSIONS
Overall, our results highlight the important role of SVs in the evolutionary processes of Tibetans' adaptation to the Qinghai-Tibet Plateau and provide a valuable resource for future high-altitude adaptation studies.
背景
结构变异（SV）是塑造人类基因组进化和功能的基本突变力量。然而，目前很少有研究探讨 SV 在高原适应中的作用，也几乎不了解藏族人群中的适应性渐渗 SV。
结果
本研究使用纳米孔测序技术，在 15 名中国藏族和 10 名汉族个体中生成了 SV 的综合目录。在目录中总共 38216 个独特的 SV 中，有 27%是首次通过序列解析获得的。我们系统地评估了这些 SV 在重复序列和功能基因组区域的分布情况。通过在另外 276 个基因组中的基因分型，我们鉴定了 69 个藏-汉分层 SV 和 80 个候选适应性基因。我们还发现了一些适应性渐渗 SV 候选基因，并提供了 1p36.32 处 335 个碱基缺失的证据。
结论
总的来说，我们的研究结果强调了 SV 在藏族人群适应青藏高原过程中的重要作用，并为未来的高原适应研究提供了有价值的资源。
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