Bai Haihua, Guo Xiaosen, Zhang Dong, Narisu Narisu, Bu Junjie, Jirimutu Jirimutu, Liang Fan, Zhao Xiang, Xing Yanping, Wang Dingzhu, Li Tongda, Zhang Yanru, Guan Baozhu, Yang Xukui, Yang Zili, Shuangshan Shuangshan, Su Zhe, Wu Huiguang, Li Wenjing, Chen Ming, Zhu Shilin, Bayinnamula Bayinnamula, Chang Yuqi, Gao Ying, Lan Tianming, Suyalatu Suyalatu, Huang Hui, Su Yan, Chen Yujie, Li Wenqi, Yang Xu, Feng Qiang, Wang Jian, Yang Huanming, Wang Jun, Wu Qizhu, Yin Ye, Zhou Huanmin
Inner Mongolia University for the Nationalities, Tongliao, China
BGI-Shenzhen, Shenzhen, China Department of Biology, University of Copenhagen, Denmark
Genome Biol Evol. 2014 Nov 5;6(12):3122-36. doi: 10.1093/gbe/evu242.
Mongolians have played a significant role in modern human evolution, especially after the rise of Genghis Khan (1162[?]-1227). Although the social cultural impacts of Genghis Khan and the Mongolian population have been well documented, explorations of their genome structure and genetic imprints on other human populations have been lacking. We here present the genome of a Mongolian male individual. The genome was de novo assembled using a total of 130.8-fold genomic data produced from massively parallel whole-genome sequencing. We identified high-confidence variation sets, including 3.7 million single nucleotide polymorphisms (SNPs) and 756,234 short insertions and deletions. Functional SNP analysis predicted that the individual has a pathogenic risk for carnitine deficiency. We located the patrilineal inheritance of the Mongolian genome to the lineage D3a through Y haplogroup analysis and inferred that the individual has a common patrilineal ancestor with Tibeto-Burman populations and is likely to be the progeny of the earliest settlers in East Asia. We finally investigated the genetic imprints of Mongolians on other human populations using different approaches. We found varying degrees of gene flows between Mongolians and populations living in Europe, South/Central Asia, and the Indian subcontinent. The analyses demonstrate that the genetic impacts of Mongolians likely resulted from the expansion of the Mongolian Empire in the 13th century. The genome will be of great help in further explorations of modern human evolution and genetic causes of diseases/traits specific to Mongolians.
蒙古人在现代人类进化过程中发挥了重要作用，尤其是在成吉思汗（1162[？]-1227）崛起之后。尽管成吉思汗及蒙古族群体的社会文化影响已有详尽记载，但对他们的基因组结构以及对其他人类群体的遗传印记的探索却一直欠缺。在此，我们展示了一位蒙古族男性个体的基因组。该基因组是利用大规模平行全基因组测序产生的总计130.8倍覆盖度的基因组数据进行从头组装的。我们鉴定出了高可信度的变异集，包括370万个单核苷酸多态性（SNP）以及756,234个短插入和缺失。功能性SNP分析预测该个体存在肉碱缺乏的致病风险。通过Y单倍群分析，我们将蒙古族基因组的父系遗传定位到了D3a谱系，并推断该个体与藏缅语族人群拥有共同的父系祖先，且很可能是东亚最早定居者的后代。我们最终运用不同方法研究了蒙古人对其他人类群体的遗传印记。我们发现蒙古人与生活在欧洲、南亚/中亚以及印度次大陆的人群之间存在不同程度的基因流动。分析表明，蒙古人的遗传影响可能源于13世纪蒙古帝国的扩张。该基因组将对进一步探索现代人类进化以及蒙古族特有的疾病/性状遗传原因有很大帮助。
