The genome of a Mongolian individual reveals the genetic imprints of Mongolians on modern human populations.
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.
Inner Mongolia University for the Nationalities, Tongliao, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Haihua
H
Bai
BGI-Shenzhen, Shenzhen, China Department of Biology, University of Copenhagen, Denmark qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Xiaosen
X
Guo
Inner Mongolia Agricultural University, Inner Mongolia Autonomous Region Key Lab of Bio-Manufacture, Hohhot, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Dong
D
Zhang
Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Narisu
N
Narisu
BGI-Shenzhen, Shenzhen, China Key Laboratory for NeuroInformation of Ministry of Education, School of Life Science and Technology, University of Electronic Science and Technology of China, Chengdu, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Junjie
J
Bu
Inner Mongolia University for the Nationalities, Tongliao, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Jirimutu
J
Jirimutu
BGI-Shenzhen, Shenzhen, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Fan
F
Liang
BGI-Shenzhen, Shenzhen, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Xiang
X
Zhao
Inner Mongolia Agricultural University, Inner Mongolia Autonomous Region Key Lab of Bio-Manufacture, Hohhot, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Yanping
Y
Xing
Inner Mongolia University for the Nationalities, Tongliao, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Dingzhu
D
Wang
BGI-Shenzhen, Shenzhen, China School of Bioscience and Bioengineering, South China University of Technology, Guangzhou, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Tongda
T
Li
Inner Mongolia Agricultural University, Inner Mongolia Autonomous Region Key Lab of Bio-Manufacture, Hohhot, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Yanru
Y
Zhang
Inner Mongolia International Mongolian Hospital, Hohhot, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Baozhu
B
Guan
BGI-Shenzhen, Shenzhen, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Xukui
X
Yang
Inner Mongolia Agricultural University, Inner Mongolia Autonomous Region Key Lab of Bio-Manufacture, Hohhot, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Zili
Z
Yang
Inner Mongolia University for the Nationalities, Tongliao, China Baotou Normal College, Baotou, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Shuangshan
S
Shuangshan
BGI-Shenzhen, Shenzhen, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Zhe
Z
Su
Inner Mongolia University for the Nationalities, Tongliao, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Huiguang
H
Wu
BGI-Shenzhen, Shenzhen, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Wenjing
W
Li
Inner Mongolia University for the Nationalities, Tongliao, China Department of Bioinformatics, College of Life Science, Zhejiang University, Hangzhou, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Ming
M
Chen
BGI-Shenzhen, Shenzhen, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Shilin
S
Zhu
Inner Mongolia University for the Nationalities, Tongliao, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Bayinnamula
B
Bayinnamula
BGI-Shenzhen, Shenzhen, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Yuqi
Y
Chang
Inner Mongolia University for the Nationalities, Tongliao, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Ying
Y
Gao
BGI-Shenzhen, Shenzhen, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Tianming
T
Lan
Inner Mongolia University for the Nationalities, Tongliao, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Suyalatu
S
Suyalatu
BGI-Shenzhen, Shenzhen, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Hui
H
Huang
BGI-Shenzhen, Shenzhen, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Yan
Y
Su
Inner Mongolia University for the Nationalities, Tongliao, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Yujie
Y
Chen
BGI-Shenzhen, Shenzhen, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Wenqi
W
Li
BGI-Shenzhen, Shenzhen, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Xu
X
Yang
BGI-Shenzhen, Shenzhen, China Department of Biology, University of Copenhagen, Denmark qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Qiang
Q
Feng
BGI-Shenzhen, Shenzhen, China James D. Watson Institute of Genome Science, Hangzhou, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Jian
J
Wang
BGI-Shenzhen, Shenzhen, China Key Laboratory for NeuroInformation of Ministry of Education, School of Life Science and Technology, University of Electronic Science and Technology of China, Chengdu, China James D. Watson Institute of Genome Science, Hangzhou, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Huanming
H
Yang
BGI-Shenzhen, Shenzhen, China Department of Biology, University of Copenhagen, Denmark The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Denmark King Abdulaziz University, Jeddah, Saudi Arabia Centre for iSequencing, Aarhus University, Denmark qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Jun
J
Wang
Inner Mongolia University for the Nationalities, Tongliao, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Qizhu
Q
Wu
BGI-Shenzhen, Shenzhen, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Ye
Y
Yin
Inner Mongolia Agricultural University, Inner Mongolia Autonomous Region Key Lab of Bio-Manufacture, Hohhot, China qizhu_wu@sohu.com yinye@genomics.cn huanminzhou@gmail.com.
Huanmin
H
Zhou
D044466:Asian People / Q000235:genetics*; D002331:Carnitine / Q000172:deficiency / Q000235:genetics; D019143:Evolution, Molecular; D017353:Gene Deletion; D051456:Gene Flow; D015894:Genome, Human; D006801:Humans; D008297:Male; D008986:Mongolia; D016254:Mutagenesis, Insertional; D020641:Polymorphism, Single Nucleotide; D011153:Population / Q000235:genetics*
D002331:Carnitine
Mongolian genome; de novo assembly; genetic imprints; genetic variations; patrilineal origin