Abstract: The Tibetan-Yi Corridor in southwestern China is well-known for the origins, migration, and evolution of Sino-Tibetan populations. Previous genetic studies have primarily focused on Han and Tibetan populations, thereby leaving the significant genetic diversity within the tibeto-Burman groups under-researched. In this study, to explore the genetic structure and admixture history of tibeto-Burman populations in southwestern China, we sequenced the human genomes of 100 individuals from the Qiang and Yi ethnic groups in Sichuan Province. These populations were found to have the closest genetic affinity with nearby tibeto-Burman-speaking Tujia and Tibetan populations. The Qiang share more allele sites with northern Altaic-speaking populations, while the Yi have closer genetic relationships with southern Hmong-Mien populations. The dominant ancestry of the Yi and Qiang derived from Neolithic millet agriculturalists in the Yellow River Basin, with a smaller proportion from Neolithic coastal populations in southern China, supporting the hypothesis of a northern origin of Sino-Tibetan populations. The Yi have more southern genetic components than the Qiang, reflecting the differential genetic influences of southeastern coastal populations on these groups. In summary, this study elucidates the fine-scale genetic structure of tibeto-Burman populations and their genetic relationships with other Chinese populations, laying the foundation for forensic genetic research in East Asian populations.

中国西南地区彝族和羌族遗传结构研究

[1]AikhenvaldAY, DixonRMW, 2001. Areal Diffusion and Genetic Inheritance: Problems in Comparative Linguistics. Oxford University Press, Oxford, UK.

[2]AlexanderDH, NovembreJ, LangeK, 2009. Fast model-based estimation of ancestry in unrelated individuals. Genome Res, 19(9):1655-1664.

[3]BaeCJ, DoukaK, PetragliaMD, 2017. On the origin of modern humans: Asian perspectives. Science, 358(6368):eaai9067.

[4]BergströmA, McCarthySA, HuiRY, et al., 2020. Insights into human genetic variation and population history from 929 diverse genomes. Science, 367(6484):eaay5012.

[5]BlenchR, 2014. Rethinking Sino-Tibetan phylogeny from the perspective of North East Indian languages. Thomas OS, Nathan WH (Eds.), Trans-Himalayan Linguistics. Walter de Gruyter GmbH, Berlin, p.71-104.

[6]BrowningBL, BrowningSR, 2013. Improving the accuracy and efficiency of identity-by-descent detection in population data. Genetics, 194(2):459-471.

[7]CaiXY, 2009. Early Human Entry Into East Asia and the Process of Characteristic Formation in East Asian Populations as Revealed by the Y Chromosome. PhD Dissemination, Fudan University, Shanghai, China (in Chinese).

[8]ChangCC, ChowCC, TellierLC, et al., 2015. Second-generation plink: rising to the challenge of larger and richer datasets. GigaScience, 4:7.

[9]ChiangCWK, MangulS, RoblesC, et al., 2018. A comprehensive map of genetic variation in the world’s largest ethnic group—Han Chinese. Mol Biol Evol, 35(11):2736-2750.

[10]FanGY, AnYR, PengCX, et al., 2019. Forensic and phylogenetic analyses among three Yi populations in Southwest China with 27 Y chromosomal STR loci. Int J Legal Med, 133(3):795-797.

[11]FengQD, LuDS, XuSH, 2018. AncestryPainter: a graphic program for displaying ancestry composition of populations and individuals. Genomics Proteomics Bioinf, 16(5):382-385.

[12]GanRJ, PanSL, MustavichLF, et al., 2008. Pinghua population as an exception of Han Chinese’s coherent genetic structure. J Hum Genet, 53(4):303-313.

[13]HeGL, WangMG, ZouX, et al., 2021. Peopling history of the Tibetan Plateau and multiple waves of admixture of Tibetans inferred from both ancient and modern genome-wide data. Front Genet, 12:725243.

[14]JeongC, Alkorta-AranburuG, BasnyatB, et al., 2014. Admixture facilitates genetic adaptations to high altitude in Tibet. Nat Commun, 5:3281.

[15]JeongC, PeterBM, BasnyatB, et al., 2017. A longitudinal cline characterizes the genetic structure of human populations in the Tibetan Plateau. PLOS One, 12(4):e0175885.

[16]KangLL, LuY, WangCC, et al., 2012. Y-chromosome O3 haplogroup diversity in Sino-Tibetan populations reveals two migration routes into the eastern Himalayas. Ann Hum Genet, 76(1):92-99.

[17]KimK, OmoriR, ItoK, 2017. Inferring epidemiological dynamics of infectious diseases using Tajima’s D statistic on nucleotide sequences of pathogens. Epidemics, 21:21-29.

[18]KutananW, LiuD, KampuansaiJ, et al., 2021. Reconstructing the human genetic history of mainland southeast Asia: insights from genome-wide data from Thailand and Laos. Mol Biol Evol, 38(8):3459-3477.

[19]LiBB, ZhongFG, YiHS, et al., 2007. Genetic polymorphism of mitochondrial DNA in Dong, Gelao, Tujia, and Yi ethnic populations from Guizhou, China. J Genet Genomics, 34(9):800-811.

[20]LiCP, TianDM, TangBX, et al., 2021. Genome variation map: a worldwide collection of genome variations across multiple species. Nucleic Acids Res, 49(D1):D1186-D1191.

[21]LiJW, ZengW, ZhangY, et al., 2017. Ancient DNA reveals genetic connections between early Di-Qiang and Han Chinese. BMC Evol Biol, 17:239.

[22]LiL, HuangPD, SunXH, et al., 2021. The ChinaMap reference panel for the accurate genotype imputation in Chinese populations. Cell Res, 31:1308-1310. https://doi.org/10.1038/s41422-021-00564-z

[23]LiuCC, WitonskyD, GoslingA, et al., 2022. Ancient genomes from the Himalayas illuminate the genetic history of Tibetans and their Tibeto-Burman speaking neighbors. Nat Commun, 13:1203.

[24]LiuD, DuongNT, TonND, et al., 2020. Extensive ethnolinguistic diversity in Vietnam reflects multiple sources of genetic diversity. Mol Biol Evol, 37(9):2503-2519.

[25]LiuY, WangMG, ChenPY, et al., 2021. Combined low-/high-density modern and ancient genome-wide data document genomic admixture history of high-altitude East Asians. Front Genet, 12:582357.

[26]LuDS, LouHY, YuanK, et al., 2016. Ancestral origins and genetic history of Tibetan highlanders. Am J Hum Genet, 99(3):580-594.

[27]MallickS, MiccoA, MahM, et al., 2024. The Allen Ancient DNA Resource (AADR) a curated compendium of ancient human genomes. Sci Data, 11:182.

[28]ManichaikulA, MychaleckyjJC, RichSS, et al., 2010. Robust relationship inference in genome-wide association studies. Bioinformatics, 26(22):2867-2873.

[29]CNCB-NGDC Members and Partners, 2023. Database resources of the National Genomics Data Center, China National Center for Bioinformation in 2024. Nucleic Acids Res, 52(D1):D18-D32.

[30]NingC, LiTJ, WangK, et al., 2020. Ancient genomes from northern China suggest links between subsistence changes and human migration. Nat Commun, 11:2700.

[31]PattersonN, MoorjaniP, LuoY, et al., 2012. Ancient admixture in human history. Genetics, 192(3):1065-1093.

[32]PickrellJK, PritchardJK, 2012. Inference of population splits and mixtures from genome-wide allele frequency data. PLOS Genet, 8(11):e1002967.

[33]PriceAL, PattersonNJ, PlengeRM, et al., 2006. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet, 38:904-909.

[34]QiXB, CuiCY, PengY, et al., 2013. Genetic evidence of paleolithic colonization and neolithic expansion of modern humans on the Tibetan Plateau. Mol Biol Evol, 30(8):1761-1778.

[35]QinZD, YangYJ, KangLL, et al., 2010. A mitochondrial revelation of early human migrations to the Tibetan Plateau before and after the last glacial maximum. Am J Phys Anthropol, 143(4):555-569.

[36]SagartL, JacquesG, LaiYF, et al., 2019. Dated language phylogenies shed light on the ancestry of Sino-Tibetan. Proc Natl Acad Sci USA, 116(21):10317-10322.

[37]ShiH, ZhongH, PengY, et al., 2008. Y chromosome evidence of earliest modern human settlement in East Asia and multiple origins of Tibetan and Japanese populations. BMC Biol, 6:45.

[38]StonekingM, DelfinF, 2010. The human genetic history of East Asia: weaving a complex tapestry. Curr Biol, 20(4):R188-R193.

[39]SunYT, WangMG, SunQX, et al., 2024. Distinguished biological adaptation architecture aggravated population differentiation of Tibeto-Burman-speaking people. J Genet Genomics, 51(5):517-530.

[40]TaoL, YuanHB, ZhuKY, et al., 2023. Ancient genomes reveal millet farming-related demic diffusion from the Yellow River into southwest China. Curr Biol, 33(22):4995-5002.e7.

[41]TorroniA, MillerJA, MooreLG, et al., 1994. Mitochondrial DNA analysis in Tibet: implications for the origin of the Tibetan population and its adaptation to high altitude. Am J Phys Anthropol, 93(2):189-199.

[42]VictorHM, 1998. The Bronze Age and Early Iron Age peoples of eastern central Asia. Early China, 23:339-352.

[43]WangCC, WangLX, ShresthaR, et al., 2014. Genetic structure of Qiangic populations residing in the western Sichuan corridor. PLOS One, 9(8):e103772.

[44]WangCC, YehHY, PopovAN, et al., 2021. Genomic insights into the formation of human populations in East Asia. Nature, 591:413-419.

[45]WangFJ, 2013. On the oracle bone inscriptions “Qiang”. J Qilu Normal Univ, 28(3):68-71 (in Chinese).

[46]WangHR, YangMA, WangdueS, et al., 2023. Human genetic history on the Tibetan Plateau in the past 5100 years. Sci Adv, 9(11):eadd5582.

[47]WangMG, YuanDD, ZouX, et al., 2021. Fine-scale genetic structure and natural selection signatures of southwestern Hans inferred from patterns of genome-wide allele, haplotype, and haplogroup lineages. Front Genet, 12:727821.

[48]WenB, XieXH, GaoS, et al., 2004. Analyses of genetic structure of Tibeto-Burman populations reveals sex-biased admixture in southern Tibeto-Burmans. Am J Hum Genet, 74(5):856-865.

[49]YangMA, FanXC, SunB, et al., 2020. Ancient DNA indicates human population shifts and admixture in northern and southern China. Science, 369(6501):282-288.

[50]YaoHB, TangSW, YaoXT, et al., 2017. The genetic admixture in Tibetan-Yi Corridor. Am J Phys Anthropol, 164(3):522-532.

[51]YaoHB, WangMG, ZouX, et al., 2021. 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(3):631-651.

[52]YaoYG, KongQP, BandeltHJ, et al., 2002. Phylogeographic differentiation of mitochondrial DNA in Han Chinese. Am J Hum Genet, 70(3):635-651.

[53]YuXE, LiH, 2021. Origin of ethnic groups, linguistic families, and civilizations in China viewed from the Y chromosome. Mol Genet Genomics, 296(4):783-797.

[54]ZhangMH, YanS, PanWY, et al., 2019. Phylogenetic evidence for Sino-Tibetan origin in northern China in the Late Neolithic. Nature, 569:112-115.

[55]ZhangZ, ZhangYL, WangYN, et al., 2022. The Tibetan-Yi region is both a corridor and a barrier for human gene flow. Cell Rep, 39(4):110720.

[56]ZhaoM, KongQP, WangHW, et al., 2009. Mitochondrial genome evidence reveals successful Late Paleolithic settlement on the Tibetan Plateau. Proc Natl Acad Sci USA, 106(50):21230-21235.

[57]ZhaoYB, LiHJ, LiSN, et al., 2011. Ancient DNA evidence supports the contribution of Di-Qiang people to the Han Chinese gene pool. Am J Phys Anthropol, 144(2):258-268.

Similar articles