Genetic insights into the paternal admixture history of Chinese Mongolians via high-resolution customized Y-SNP SNaPshot panels
Genetic insights into the paternal admixture history of Chinese Mongolians via high-resolution customized Y-SNP SNaPshot panels
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通过高分辨率定制 Y-SNP SNaPshot 面板对中国蒙古人的父系混血历史进行遗传洞察
DOI：
10.1016/j.fsigen.2021.102565
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发表时间：
2021
期刊：
影响因子：
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通讯作者：
Yiping Hou
中科院分区：
文献类型：
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作者：
Mengge Wang;Guanglin He;Xing Zou;Jing Liu;Ziwei Ye;Tianyue Ming;Weian Du;Zheng Wang;Yiping Hou
蒙古族是蒙古语民族之一，分布于中国北方和西伯利亚南部的蒙古高原。许多古代DNA研究最近报道了该地区旧石器时代到历史时期的广泛人口转变，而对现代地理上不同的蒙古人的父系遗传遗产知之甚少。在这里，我们使用AGCU Y37试剂盒和我们开发的8个Y-SNP SNaPshot面板（包括本文首次报道的两个面板）对来自中国北方呼和浩特、呼伦贝尔和鄂尔多斯的679名蒙古族个体的215个Y染色体单核苷酸多态性（Y-SNPs）和37个Y染色体短串联重复序列（Y-STR）进行基因分型。C-M130 Y-SNP SNaPshot组定义了28个亚单倍群，N/O/Q互补Y-SNP SNaPshot组定义了N1 b-F2930、N1 a1 a1 a3-B197、Q-M242和O2 a2 b1 a1 a1 a4 a-CTS 4658等30个亚单倍群，提高了Y-SNP SNaPshot组的分辨率，可应用于蒙古族父系谱系的精细解剖。我们发现蒙古族流行的单倍群和一些观察到的微变异之间的强关联，在新生成的Y-STR单倍型数据，这表明单倍群预测的基础上的Y-STR单倍型的分布的可能性。我们确定了三个主要的祖先来源的观察蒙古人占主导地位的单倍群，包括本地血统的C2*-M217和传入的血统从东亚南部（O2*-M122，O 1b *-P31，和N1*-CTS 3750）和欧亚大陆西部（R1*-M173）的其他地区。我们还观察到相对较低频率（< 5.00%）的DE-M145、D1*-M174、C1*-F3393、G*-M201、I-M170、J*-M304、L-M20、O 1a *-M119和Q*-M242，这表明蒙古人与来自周边地区的其他欧亚人之间存在复杂的混合历史。遗传聚类分析表明，研究的蒙古族人与其他阿尔泰语系人群和讲汉语的回族人表现出密切的遗传亲缘关系。基于Y-SNP单倍型/单倍群的遗传遗产不仅揭示了地理/语言/种族不同的中国人群之间的分层与地理划分和语言分类高度一致，而且还表明父系遗传材料可以提供地理不同的蒙古族人群之间的精细尺度遗传结构，这表明我们开发的高分辨率Y-SNP SNaPshot面板具有用于法医系谱搜索和地理学祖先推断的潜力。
The Mongolian people, one of the Mongolic-speaking populations, are native to the Mongolian Plateau in North China and southern Siberia. Many ancient DNA studies recently reported extensive population transformations during the Paleolithic to historic periods in this region, while little is known about the paternal genetic legacy of modern geographically different Mongolians. Here, we genotyped 215 Y-chromosomal single nucleotide polymorphisms (Y-SNPs) and 37 Y-chromosomal short tandem repeats (Y-STRs) among 679 Mongolian individuals from Hohhot, Hulunbuir, and Ordos in North China using the AGCU Y37 kit and our developed eight Y-SNP SNaPshot panels (including two panels first reported herein). The C-M130 Y-SNP SNaPshot panel defines 28 subhaplogroups, and the N/O/Q complementary Y-SNP SNaPshot panel defines 30 subhaplogroups of N1b-F2930, N1a1a1a1a3-B197, Q-M242, and O2a2b1a1a1a4a-CTS4658, which improved the resolution our developed Y-SNP SNaPshot panel set and could be applied for dissecting the finer-scale paternal lineages of Mongolic speakers. We found a strong association between Mongolian-prevailing haplogroups and some observed microvariants among the newly generated Y-STR haplotype data, suggesting the possibility of haplogroup prediction based on the distribution of Y-STR haplotypes. We identified three main ancestral sources of the observed Mongolian-dominant haplogroups, including the local lineage of C2*-M217 and incoming lineages from other regions of southern East Asia (O2*-M122, O1b*-P31, and N1*-CTS3750) and western Eurasia (R1*-M173). We also observed DE-M145, D1*-M174, C1*-F3393, G*-M201, I-M170, J*-M304, L-M20, O1a*-M119, and Q*-M242 at relatively low frequencies (< 5.00%), suggesting a complex admixture history between Mongolians and other incoming Eurasians from surrounding regions. Genetic clustering analyses indicated that the studied Mongolians showed close genetic affinities with other Altaic-speaking populations and Sinitic-speaking Hui people. The Y-SNP haplotype/haplogroup-based genetic legacy not only revealed that the stratification among geographically/linguistically/ethnically different Chinese populations was highly consistent with the geographical division and language classification, but also demonstrated that patrilineal genetic materials could provide fine-scale genetic structures among geographically different Mongolian people, suggesting that our developed high-resolution Y-SNP SNaPshot panels have the potential for forensic pedigree searches and biogeographical ancestry inference.