Ancient Components and Recent Expansion in the Eurasian Heartland: Insights into the Revised Phylogeny of Y-Chromosomes from Central Asia

Genes (Basel). 2022 Oct 1;13(10):1776. doi: 10.3390/genes13101776.

Abstract

In the past two decades, studies of Y chromosomal single nucleotide polymorphisms (Y-SNPs) and short tandem repeats (Y-STRs) have shed light on the demographic history of Central Asia, the heartland of Eurasia. However, complex patterns of migration and admixture have complicated population genetic studies in Central Asia. Here, we sequenced and analyzed the Y-chromosomes of 187 male individuals from Kazakh, Kyrgyz, Uzbek, Karakalpak, Hazara, Karluk, Tajik, Uyghur, Dungan, and Turkmen populations. High diversity and admixture from peripheral areas of Eurasia were observed among the paternal gene pool of these populations. This general pattern can be largely attributed to the activities of ancient people in four periods, including the Neolithic farmers, Indo-Europeans, Turks, and Mongols. Most importantly, we detected the consistent expansion of many minor lineages over the past thousand years, which may correspond directly to the formation of modern populations in these regions. The newly discovered sub-lineages and variants provide a basis for further studies of the contributions of minor lineages to the formation of modern populations in Central Asia.

Keywords: Central Asia; Y-chromosome; admixture; paternal lineage.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asia
  • Chromosomes, Human, Y* / genetics
  • Genetics, Population*
  • Haplotypes
  • Humans
  • Male
  • Phylogeny

Grants and funding

This research was funded by the Science Committee of the Ministry of Education and Science of the Republic of Kazakhstan (Grant No. AP09259560) and Faculty-development competitive research grants programs of Nazarbayev University (Grant No. SST2019012). This work was also supported by the the Russian Ministry of Science and Higher Education (State Assignments for the Research Centre for Medical Genetics). The study was also supported by the Scientific and Technology Committee of Shanghai Municipality (18490750300) and the Key projects of strategic international scientific and technological innovation cooperation of the Chinese Ministry of Science and Technology (2020YFE0201600). LHW was supported by National Natural Science Foundation of China (31900406). This study was also supported by the funders, who had no role in study design, data collection, or analysis, decision to publish, or preparation of the manuscript.