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Whole-genome sequencing of 175 Mongolians uncovers population-specific genetic architecture and gene flow throughout North and East Asia

Nature Genetics volume 50, pages 1696–1704 (2018)Cite this article

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Abstract

The genetic variation in Northern Asian populations is currently undersampled. To address this, we generated a new genetic variation reference panel by whole-genome sequencing of 175 ethnic Mongolians, representing six tribes. The cataloged variation in the panel shows strong population stratification among these tribes, which correlates with the diverse demographic histories in the region. Incorporating our results with the 1000 Genomes Project panel identifies derived alleles shared between Finns and Mongolians/Siberians, suggesting that substantial gene flow between northern Eurasian populations has occurred in the past. Furthermore, we highlight that North, East, and Southeast Asian populations are more aligned with each other than these groups are with South Asian and Oceanian populations.

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Fig. 1: Sampling, variants, and imputation.
Fig. 2: Population genetic structure.
Fig. 3: Inference of population demographic history.
Fig. 4: Gene flow between Mongolians and global human populations of 1000G.
Fig. 5: Phylogenetic relatedness of East Asian groups with other people.

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Data availability

Raw sequencing data and variant sets have been deposited to the CNGB (China National Genebank) Nucleotide Sequence Archive (CNSA) with accession CNP0000063 (https://db.cngb.org/cnsa/).

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Acknowledgements

We sincerely thank the Mongolian volunteers who agreed to contribute blood samples and participate in this study. We thank D. Reich for sharing genotype data on populations from Siberia and South Asia, and J. Fekecs for graphical assistance. We acknowledge F.S. Collins and C.D. Bustamante for their helpful discussions and comments on the manuscript, as well as Shuangshan Shuangshan, Y. Bao, and S. Ba for contributing to the sample collection process. This study was supported by Shenzhen Municipal Government of China (CXB201108250094A), Inner Mongolia University for Nationalities Scientific Research Project (MD2012038), the National Science Foundation of China (81560176, 81511130050), China National Genebank, Foundation of the Inner Mongolia Department of Science and Technology (2015MS0875, 201502103), Science and Technology Planning Project of Inner Mongolia, China (20120409), and the Guangdong Provincial Key Laboratory of Genome Read and Write (2017B030301010). C.R.G. is supported by the US National Institutes of Health (4U01HG007419-04) and National Science Foundation (1201234). N.N., S.R.B., and L.C.B are supported by the Intramural Research Program of the National Human Genome Research Institute, National Institutes of Health.

Author information

Author notes

  1. These authors contributed equally: Haihua Bai, Xiaosen Guo, Narisu Narisu, Tianming Lan, Qizhu Wu.

Authors and Affiliations

  1. School of Life Science, Inner Mongolia University for the Nationalities, Tongliao, China

    Haihua Bai, Ying Gao, Suyalatu Suyalatu, Huiguang Wu & Yujie Chen

  2. Inner Mongolia Engineering Research Center of Personalized Medicine, Tongliao, China

    Haihua Bai

  3. BGI-Shenzhen, Shenzhen, China

    Xiaosen Guo, Tianming Lan, Yong Zhang, Dandan Zhang, Bingyi Ding, Haorong Lu, Wangsheng Li, Ningxin Dang, Huixin Xu, Xin Luo, Xiaolian Ning, Bo Wang, Chen Ye, Lin Fang, Wenhao Xu, Xin Liu, Xun Xu, Huanming Yang, Jun Wang & Karsten Kristiansen

  4. Laboratory of Genomics and Molecular Biomedicine, Department of Biology, University of Copenhagen, Copenhagen, Denmark

    Xiaosen Guo, Tianming Lan, Zongze Wu, Jun Wang, Karsten Kristiansen & Ye Yin

  5. China National GeneBank, BGI-Shenzhen, Shenzhen, China

    Xiaosen Guo, Tianming Lan, Yong Zhang, Dandan Zhang, Bingyi Ding, Haorong Lu, Wangsheng Li, Ningxin Dang, Huixin Xu, Xin Luo, Xiaolian Ning, Bo Wang, Chen Ye, Lin Fang, Wenhao Xu, Xin Liu, Xun Xu & Huanming Yang

  6. Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA

    Narisu Narisu

  7. Affiliated Hospital of Inner Mongolia University for the Nationalities, Tongliao, China

    Qizhu Wu, Liqing Yang, Hashenqimuge Hashenqimuge & Burenbatu Burenbatu

  8. College of Life Science, Inner Mongolia Agricultural University, Hohhot, China

    Yanping Xing, Yanru Zhang, Dong Zhang, Li Zhang, Junwei Cao, Yiyi Liu, Shenyuan Wang, Chunxia Liu, Xueqiong Li, Fanhua Meng, Kaifeng Wu, Yingchun Liu, Lu Li, Tao Li & Huanmin Zhou

  9. Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA

    Stephen R. Bond

  10. College of Computer Science and Technology, Inner Mongolia University for the Nationalities, Tongliao, China

    Zhili Pei & Mingyang Jiang

  11. College of Mathematics, Inner Mongolia University for the Nationalities, Tongliao, China

    Jirimutu Jirimutu

  12. BGI Genomics, BGI-Shenzhen, Shenzhen, China

    Xukui Yang, Zongze Wu & Ye Yin

  13. College of Mongolian Studies, Inner Mongolia University for the Nationalities, Tongliao, China

    Morigenbatu Morigenbatu & Dingzhu Wang

  14. Inner Mongolia International Mongolian Hospital, Hohhot, China

    Baozhu Guan

  15. Guangdong Provincial Key Laboratory of Genome Read and Write, Shenzhen, China

    Haorong Lu

  16. Bioinformatics Research Centre, Aarhus University, Aarhus, Denmark

    Kalle Leppälä

  17. College of Life Science and Technology, Huazhong Agricultural University, No.1 Shizishan Street, Wuhan, China

    Wenhao Xu

  18. Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA

    Christopher R. Gignoux

  19. James D. Watson Institute of Genome Sciences, Hangzhou, China

    Huanming Yang

  20. Gene and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA

    Lawrence C. Brody

  21. School of Life Science and Biotechnology, Dalian University of Technology, Dalian, China

    Ye Yin

Authors
  1. Haihua Bai
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  2. Xiaosen Guo
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  3. Narisu Narisu
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  4. Tianming Lan
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  5. Qizhu Wu
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Contributions

Y.Y., H.Z., B.B., and H.B. initiated and supervised the project. H.B., Q.W., Y.X., Z.P., J.J., X.Y., M.M., B.G., D.W., Y.G., H.H., S.S., Y.C., YanruZ., L.Z., YiyiL., C.L., F.M., K.W., L.L., and YingchunL. surveyed and collected the samples. Y.X., YanruZ., DongZ., J.C., S.W., X.Li, and T.Li performed extraction of the genomic DNA. H.B., X.G., Q.W., M.J., and B.W. did the genome sequencing. YongZ., L.F., H.W., and T.Lan did the mapping and variation calling. T.Lan, X.G., H.L., W.L., Z.W., and B.W. performed experimental validation. X.G., T.Lan, and B.D. did the construction of the haplotype reference panel. X.G., T.Lan, DandanZ., H.X., N.D., X.Luo, W.X., and L.Y. performed the analysis of population diversity and genetic structure. T.Lan, X.G., N.N., B.D., and X.N. did the inferences of population demographic history. N.N., S.R.B., K.L., and C.R.G. did the analysis of phylogeny of East Asians. X.G., N.N., T.Lan, and S.R.B. wrote the manuscripts. X.G., C.Y., X.Luo, and T.Li were in charge of data submission. N.N., X.G., T.Lan, S.R.B., N.D., C.R.G., X.X., X.Liu, H.Y., L.C.B., J.W., and K.K. revised the manuscript.

Corresponding authors

Correspondence to Burenbatu Burenbatu, Huanmin Zhou or Ye Yin.

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Bai, H., Guo, X., Narisu, N. et al. Whole-genome sequencing of 175 Mongolians uncovers population-specific genetic architecture and gene flow throughout North and East Asia. Nat Genet 50, 1696–1704 (2018). https://doi.org/10.1038/s41588-018-0250-5

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