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New insights into the fine-scale history of western–eastern admixture of the northwestern Chinese population in the Hexi Corridor via genome-wide genetic legacy

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Abstract

Trans-Eurasian cultural and genetic exchanges have significantly influenced the demographic dynamics of Eurasian populations. The Hexi Corridor, located along the southeastern edge of the Eurasian steppe, served as an important passage of the ancient Silk Road in Northwest China and intensified the transcontinental exchange and interaction between populations on the Central Plain and in Western Eurasia. Historical and archeological records indicate that the Western Eurasian cultural elements were largely brought into North China via this geographical corridor, but there is debate on the extent to which the spread of barley/wheat agriculture into North China and subsequent Bronze Age cultural and technological mixture/shifts were achieved by the movement of people or dissemination of ideas. Here, we presented higher-resolution genome-wide autosomal and uniparental Y/mtDNA SNP or STR data for 599 northwestern Han Chinese individuals and conducted 2 different comprehensive genetic studies among Neolithic-to-present-day Eurasians. Genetic studies based on lower-resolution STR markers via PCA, STRUCTURE, and phylogenetic trees showed that northwestern Han Chinese individuals had increased genetic homogeneity relative to northern Mongolic/Turkic/Tungusic speakers and Tibeto-Burman groups. The genomic signature constructed based on modern/ancient DNA further illustrated that the primary ancestry of the northwestern Han was derived from northern millet farmer ancestors, which was consistent with the hypothesis of Han origin in North China and more recent northwestward population expansion. This was subsequently confirmed via excess shared derived alleles in f3/f4 statistical analyses and by more northern East Asian-related ancestry in the qpAdm/qpGraph models. Interestingly, we identified one western Eurasian admixture signature that was present in northwestern Han but absent from southern Han, with an admixture time dated to approximately 1000 CE (Tang and Song dynasties). Generally, we provided supporting evidence that historic Trans-Eurasian communication was primarily maintained through population movement, not simply cultural diffusion. The observed population dynamics in northwestern Han Chinese not only support the North China origin hypothesis but also reflect the multiple sources of the genetic diversity observed in this population.

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source for Lanzhou Han when we assumed ancestral northern East Asians (c, d), ancestral southern East Asian Hanben (e), Western Eurasian steppe pastoralist as one of the source populations (f–h)

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Data availability

We submitted allele frequency data and other numerical data that underlies graphs or summary statistics in the supplementary material. Following the regulations and informed consent of this project approved via the Medical Ethics Committee of Xiamen University and the regulations of the Human Genetic Resources Administration of China (HGRAC), the obtained raw data can be shared via personal communication with corresponding authors. We make the data available upon request by asking the person requesting the data to agree in writing to the following restrictions: (I) the data can be only used for studying population history; (II) the data cannot be used for commercial purposes; (III) the data cannot be used as identify the sample donors; (IV) the data cannot be used for studying natural/cultural selections, medical or other related studies.

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Funding

HBY was supported by the National Natural Science Foundation of China (31760309), Foundation for Humanities and Social Sciences Research Of the Ministry of Education (18YJAZH116), Scientific research project of Colleges and universities in Gansu Province (2017B-34), Gansu University of Political Science and Law major scientific research projects (2017XZD10), Lanzhou Talent Innovation and Entrepreneurship Project (2018-RC-113) and Gansu province guides science and technology innovation special project (2018ZX03). CCW was supported by the Nanqiang Outstanding Young Talents Program of Xiamen University (X2123302), National Natural Science Foundation of China (31801040), and Fundamental Research Funds for the Central Universities (ZK1144). YXL was supported by the National Postdoctoral Program for Innovative Talents (BX20180180). GLH was funded by China Postdoctoral Science Foundation.

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Correspondence to Hongbin Yao, Chuan-Chao Wang or Guanglin He.

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All the author declare no conflict of interest.

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This study and corresponding protocols were reviewed and approved via the Medical Ethics Committee of Xiamen University (XDYX201909).

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Communicated by Shuhua Xu.

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Supplementary Information

Below is the link to the electronic supplementary material.

438_2021_1767_MOESM1_ESM.xlsx

Supplementary file1 Table S1 p values of linkage-disequilibrium of 23 autosomal STRs in Gansu Han population (XLSX 16 KB)

Supplementary file2 Table S2 Allele frequency of 23 STRs in Gansu Han population (XLSX 16 KB)

Supplementary file3 Table S3 Forensic parameters of 23 STRs in Gansu Han population (XLSX 13 KB)

438_2021_1767_MOESM4_ESM.xlsx

Supplementary file4 Table S4 Pairwise Fst genetic distance between Gansu Han and other 16 eastern Eurasian reference population based on genetic variations of 23 STRs (XLSX 13 KB)

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Supplementary file5 Table S5 Pairwise Fst genetic distance between Gansu Han and other 19 Eurasian reference population based on genetic variations of 20 STRs (XLSX 14 KB)

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Supplementary file6 Table S6 Pairwise Cavalli-Sforza genetic distance between Gansu Han and other 56 worldwide reference population based on allele frequency of 20 STRs (XLSX 36 KB)

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Supplementary file7 Table S7 Results of f4(Reference population1, Reference population2; Han_Lanzhou, Mbuti) based on Human-Origin-merge dataset (XLSX 1109 KB)

438_2021_1767_MOESM8_ESM.xlsx

Supplementary file8 Table S8 Results of f4(Reference population1, Han_Lanzhou; Reference population2, Mbuti) based on Human-Origin-merge dataset (XLSX 1075 KB)

Supplementary file9 Table S9 Maternal and paternal haplogroup distribution of Lanzhou Han individuals (XLSX 11 KB)

438_2021_1767_MOESM10_ESM.pdf

Supplementary file10 Figure S1. Geographical position of Lanzhou, in northwest China. Figure S2. Allele frequencies of twenty-three short tandem repeats (STRs) in Lanzhou Han. Figure S3. Genetic relationships among geographically/ethnically diverse East Asians inferred from 23 autosomal STRs. (A) Multidimensional scaling plots (MDS) showed the genetic similarities among 17 East Asian populations; (B) Heat map based on the pairwise genetic distance (Fst) showed the genetic affinity among the studied and the reference populations. (C) The phylogenetic relationship base on the Fst genetic matrix among 17 populations showed genetic phylogeny. (D) Genetic similarities and differences inferred by model-based ancestry dissection. Figure S4. The pairwise Cavalli-Sforza genetic distances between Gansu Han and other 56 worldwide reference populations.Figure S5. Genetic similarities and differences among Lanzhou Han and other 56 worldwide reference populations (PDF 1026 KB)

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Yao, H., Wang, M., Zou, X. et al. New insights into the fine-scale history of western–eastern admixture of the northwestern Chinese population in the Hexi Corridor via genome-wide genetic legacy. Mol Genet Genomics 296, 631–651 (2021). https://doi.org/10.1007/s00438-021-01767-0

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