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

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.

在过去的二十年中，对Y染色体单核苷酸多态性（Y - SNPs）和短串联重复序列（Y - STRs）的研究揭示了中亚（欧亚大陆的中心地带）的人口历史。然而，复杂的迁徙和融合模式使中亚的群体遗传学研究变得复杂。在此，我们对来自哈萨克、吉尔吉斯、乌兹别克、卡拉卡尔帕克、哈扎拉、葛逻禄、塔吉克、维吾尔、东干和土库曼等族群的187名男性个体的Y染色体进行了测序和分析。在这些族群的父系基因库中观察到了来自欧亚大陆周边地区的高度多样性和融合现象。这种普遍模式在很大程度上可归因于四个时期古人的活动，包括新石器时代的农民、印欧人、突厥人和蒙古人。最重要的是，我们检测到在过去一千年中许多小支系的持续扩张，这可能与这些地区现代族群的形成直接相关。新发现的亚支系和变体为进一步研究小支系对中亚现代族群形成的贡献提供了基础。