Evolutionary history and biological adaptation of Han Chinese people on the Mongolian Plateau

• DOI: 10.1016/j.hlife.2024.04.005
• Publication Date: 2024-04-23T15:52:46Z
• Authors: Xiangping Li; Mengge Wang; Haoran Su; Shuhan Duan; Yuntao Sun; Hongyu Chen; Zhiyong Wang; Qiuxia Sun; Qingxin Yang; Jing Chen; Ting Yang; Yuguo Huang; Jie Zhong; Xiucheng Jiang; Jinyue Ma; Shijia Chen; Yunhui Liu; Lintao Luo; Xinyu Lin; Shengjie Nie; Chao Liu; Liping Hu; Guanglin He
• Keywords: Demographic history; Selective sweep

Complex demographic processes and natural selection pressures are critical to resolving patterns of the molecular genetic basis adaptative traits or complex diseases. Recent ancient genome data allow us trace how key evolved in different human populations over time, connecting population history with disease susceptibility western Eurasians. To fill this gap eastern Eurasians provide deep insights into evolutionary population-specific biological traits, we explored one integrative modern genomic database, including 225 out 5583 genomes first reported here. We comprehensively characterized adaptation Han Chinese individuals on Mongolian Plateau based allele frequency spectrum haplotype-resolved fragments. found strong homogeneity among geographically from Inner Mongolia (IMH). reconstructed their admixture models events, revealing that IMH had a close relationship millet farmers obtained additional gene flow Altaic-speaking populations. The enrichment selected candidate genes suggested essential metabolism-related promoted rapid environmental shifts dietary changes during agricultural innovations. Evolutionary trajectory reconstruction methylenetetrahydrofolate reductase (MTHFR) fatty acid desaturase 1 (FADS1) Neolithic transition period differentiated metabolic rate folate acid. revealed polygenicity pleiotropy genes, indicating recent polygenic adaptations, interactions, genotype-phenotype correlations have contributed architecture