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. 2021 Dec 8:12:735786.
doi: 10.3389/fgene.2021.735786. eCollection 2021.

Genomic Insights Into the Genetic Structure and Natural Selection of Mongolians

Xiaomin Yang  1   2   3 , Sarengaowa  1 , Guanglin He  1   2   3 , Jianxin Guo  1   2   3 , Kongyang Zhu  1   2   3 , Hao Ma  1   2   3 , Jing Zhao  1   2   3 , Meiqing Yang  4 , Jing Chen  4 , Xianpeng Zhang  5 , Le Tao  1   2   3 , Yilan Liu  1   2   3 , Xiu-Fang Zhang  6 , Chuan-Chao Wang  1   2   3
Affiliations

Genomic Insights Into the Genetic Structure and Natural Selection of Mongolians

Xiaomin Yang et al. Front Genet. .

Abstract

Mongolians dwell at the Eastern Eurasian Steppe, where is the agriculture and pasture interlaced area, practice pastoral subsistence strategies for generations, and have their own complex genetic formation history. There is evidence that the eastward expansion of Western Steppe herders transformed the lifestyle of post-Bronze Age Mongolia Plateau populations and brought gene flow into the gene pool of Eastern Eurasians. Here, we reported genome-wide data for 42 individuals from the Inner Mongolia Autonomous Region of North China. We observed that our studied Mongolians were structured into three distinct genetic clusters possessing different genetic affinity with previous studied Inner Mongolians and Mongols and various Eastern and Western Eurasian ancestries: two subgroups harbored dominant Eastern Eurasian ancestry from Neolithic millet farmers of Yellow River Basin; another subgroup derived Eastern Eurasian ancestry primarily from Neolithic hunter-gatherers of North Asia. Besides, three-way/four-way qpAdm admixture models revealed that both north and southern Western Eurasian ancestry related to the Western Steppe herders and Iranian farmers contributed to the genetic materials into modern Mongolians. ALDER-based admixture coefficient and haplotype-based GLOBETROTTER demonstrated that the former western ancestry detected in modern Mongolian could be recently traced back to a historic period in accordance with the historical record about the westward expansion of the Mongol empire. Furthermore, the natural selection analysis of Mongolians showed that the Major Histocompatibility Complex (MHC) region underwent significantly positive selective sweeps. The functional genes, alcohol dehydrogenase (ADH) and lactase persistence (LCT), were not identified, while the higher/lower frequencies of derived mutations were strongly correlated with the genetic affinity to East Asian/Western Eurasian populations. Our attested complex population movement and admixture in the agriculture and pasture interlaced area played an important role in the formation of modern Mongolians.

Keywords: Mongolian; admixture history; functional genes; genetic heterogeneity; natural selection.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

FIGURE 1
FIGURE 1
The population structure of modern and ancient populations in Eurasia based on genome-wide data. (A). PCA result showed an overview population relationship between modern populations and ancient populations. (B). ADMIXTURE results (the lowest CV errors K = 7): ancestral components among Mongolian and modern and ancient populations in Eurasia.
FIGURE 2
FIGURE 2
The results of three-population statistic. The shared genetic drift between modern Eurasian populations and Mongolian subgroups.
FIGURE 3
FIGURE 3
Pheatmap of sharing haplotypes and clustering dendrogram and by FineSTRUCTURE based on the chunk length.
FIGURE 4
FIGURE 4
qpAdm-based admixture models for Mongolian subgroups.
FIGURE 5
FIGURE 5
The result of recent natural signatures of positive selective sweeps in Mongolian population based on iHS showed the strongest positive selection region in MHC region.
FIGURE 6
FIGURE 6
The GO enrichment analysis of Mongolian showed genes with significant natural signal were mostly enriched in membrane-associated cellular component.
See this image and copyright information in PMC

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