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Y-chromosome lineage in five regional Mongolian populations
Abstract
We analyzed 17 Y-STRs and Y haplogroups (Y-hgs) for about 493 Mongolian male samples from 5 regions in Mongoria, and compared with the results from Japanese male samples. Only 358 Y-STR haplotypes (Y-HTs) were observed in Mongolian males, and the haplotype diversity and discrimination capacity were calculated as 0.9934 and 0.7099 whose values were very low by comparing with tja Japanese males (0.9989 and 0.9565, respectively). About 63% of Mongolian males had C3 groups ranging from 50% in Ulaanbaatar to 69% in Ulaangom. The 96% of C3 was C3*, which is C3 except C3a to C3f, in Dalandzadgad, alternatively the 78% of C3 was C3c in Ulaangom. The network analysis with regional information and Y-hgs revealed that at least 4 major “star” or “star”-like cluster exist although the degrees of influence were variable. These clusters suggested that at least 4 major male ancestors with Y-HG-C3 have affected the gene pool of Mongolian males at the different periods.
... Genomic findings based on genome-wide markers further demonstrated that geographically or tribally different Mongolian populations were clearly stratified and displayed heterogeneity in their patterns of genetic makeup [1,8]. Besides, the observations of Y-chromosomal lineages showed that Mongolian-prevailing haplogroup (Hg) C2*-F3918 could be traced to the Donghu ancient nomadic group as early as ~2500 years ago [9], the Hg C2b1a1a1a-M407 prevailing in Mongolic-speaking populations was originated from northeastern Asia [10], and the Hg C2*-Star Cluster (C2*-ST) was one of the founder paternal lineages of Mongolic-speaking populations (Hgs are denominated according to the 2019-2020 Haplogroup C Tree) [11,12]. The maternal lineages revealed that the Mongolians took the dominant northern East Asian-specific Hgs, showing decreasing frequencies from east to west, and European-prevalent Hgs were mainly detected in Mongolians who inhabited Central Asia, showing decreasing frequencies from west to east [13][14][15]. ...
The Mongolians are mainly distributed in the modern state of Mongolia, China, Russia, and other countries. While the historic and archaeological records of the rise and fall of the Mongol Empire are well documented, little has been known about the genetic legacy of modern Mongolian populations. Here, 611 Mongolian individuals from Hohhot, Hulunbuir, and Ordos of China were genotyped via the 47 Insertion/Deletion markers. Forensically statistical parameters indicated that this InDel system could be applied to forensic investigation in Mongolian populations. The comprehensive population comparisons indicated that targeted Mongolian populations are a homogeneous population, which kept close genetic proximity with geographically northern East Asians. The findings of the model-based clustering analysis revealed a southern East Asian-specific ancestral component, which was maximized in Hainan Li, and Mongolian populations harbored relatively less Hainan Li-related ancestry and more northern East Asian-related ancestry compared with reference Tai-Kadai, Austroasiatic and Sinitic people.
... Genetic studies on current Mongolian populations have not only indicated that most Mongolian tribes were genetically similar to both East Asian and Siberian populations but also revealed the remarkable effects on the genetic structure of Eurasians by the Mongol Empire [2][3][4][5][6][7]. Among these studies, the distribution of male genetic lineages based on Y-chromosome have provided both interesting and controversial insights into the paternal genealogy of the Mongols and populations in central Asia [3,[6][7][8][9][10][11][12]. A study by Zerjal et al. of Asia share one specific Y-chromosomal haplotype, carried by likely descendants of Genghis Khan of the Mongol empire [3]. ...
Mongolians played a pivotal role in shaping the culture and genetic architecture of modern Eurasia through the rapid expansion of the Mongol Empire in the 13th century. While the historical aspects of the Mongolian Empire are well documented, research on the genetic variations among Mongolian populations is still insufficient. In this study, we examined the genetic diversity of 70 Torghut Mongols residing in the Ili region of China compared with 88 Jalaid Mongols residing 3000 km away. Over 200 forensically relevant genetic markers, including autosomal short tandem repeats (A-STRs), X chromosomal STRs (X-STRs), Y chromosomal STRs (Y-STRs), identity-informative single nucleotide polymorphisms (iiSNPs), ancestry-informative SNPs (aiSNPs), and phenotype-informative SNPs (piSNPs), were genotyped to uncover the genetic polymorphism of the Torghut Mongols. The STR genotyping results showed that 80 alleles (39 A-STRs, 25 Y-STRs, and 16 X-STRs; 14.4% of 554 alleles) identified in Torghut Mongols were not identified in Jalaid Mongols, while 155 alleles (84 A-STRs, 59 Y-STRs and 12 X-STRs; 24.6% of 630 alleles) identified in Jalaid Mongols were not observed in Torghut Mongols. Calculation of the forensic parameters demonstrated that the STRs and SNPs analyzed here could be employed in forensic applications. Interpopulation comparisons via principal component analysis (PCA), phylogenetic tree, and STRUCTURE analysis showed that the two Mongolian populations were closely related by their genetic background, although genetic differences were also discovered. When both the sequence-based A-STRs and iiSNPs were included in the STRUCTURE analysis, the Torghut population was more similar to the Uyghur population than to Jalaid Mongols, indicating certain population structure differences between the two Mongolian populations. The Y-DNA haplogroup prediction showed that although haplogroup C (C2-M217) was dominant in both Mongolian populations, haplogroup O2-M122 was rarely presented in Torghut Mongols, which differentiated the Torghut Mongols from the other Mongolian populations. This study not only uncovered the genetic features of the two Mongolian tribes, providing valuable frequency data for forensic applications, but the genetic patterns of the two Mongolian populations also provide a genetic evidence that the Torghut Mongols may have developed via the gradual intermixing of nomadic groups of Mongol and Turkic origin, as recorded in historical records. This study also highlighted the importance of building regional reference databases that consider both ethnic and geographic location information, instead of a more universal reference database, for forensic applications.
В данной статье будут рассмотрены позиции семи новых однонуклеотидных полиморфизмов в филогенетическом древе гаплогруппы С-М217 Y-хромосомы. Обзор новых субкладов и кластеров внутри клада М48. А также, будет выдвинута гипотеза о территориальном происхождении и миграционных процессах его носителей.
To verify the possibility that the Y-chromosome C3* star-cluster attributed to Genghis Khan and his patrilineal descendants is relatively frequent in the Kereys, who are the dominant clan in Kazakhstan and in Central Asia as a whole, polymorphism of the Y-chromosome was studied in Kazakhs, represented mostly by members of the Kerey clan. The Kereys showed the highest frequency (76.5%) of individuals carrying the Y-chromosome variant known as C3* star-cluster ascribed to the descendants of Genghis Khan. C3* star-cluster haplotypes were found in two subclans, Abakh-Kereys and Ashmaily-Kereys, diverged about 20-22 generations ago according to the historical data. Median network of the Kerey star-cluster haplotypes at 17 STR loci displays a bipartite structure, with two subclusters defined by the only difference at the DYS448 locus. Noteworthy is a strong correspondence of these subclusters with the Kerey subclans affiliation. The data obtained suggest that the Kerey clan appears to be the largest known clan in the world descending from a common Y-chromosome ancestor. Possible ways of Genghis Khan's relationship to the Kereys are discussed.
We have identified a Y-chromosomal lineage with several unusual features. It was found in 16 populations throughout a large region of Asia, stretching from the Pacific to the Caspian Sea, and was present at high frequency: approximately 8% of the men in this region carry it, and it thus makes up approximately 0.5% of the world total. The pattern of variation within the lineage suggested that it originated in Mongolia approximately 1,000 years ago. Such a rapid spread cannot have occurred by chance; it must have been a result of selection. The lineage is carried by likely male-line descendants of Genghis Khan, and we therefore propose that it has spread by a novel form of social selection resulting from their behavior.
We have identified a Y-chromosomal lineage that is unusually frequent in northeastern China and Mongolia, in which a haplotype cluster defined by 15 Y short tandem repeats was carried by approximately 3.3% of the males sampled from East Asia. The most recent common ancestor of this lineage lived 590 +/- 340 years ago (mean +/- SD), and it was detected in Mongolians and six Chinese minority populations. We suggest that the lineage was spread by Qing Dynasty (1644-1912) nobility, who were a privileged elite sharing patrilineal descent from Giocangga (died 1582), the grandfather of Manchu leader Nurhaci, and whose documented members formed approximately 0.4% of the minority population by the end of the dynasty.