The Genetic Legacy of the Mongols More…
The Genome of a Mongolian Individual Reveals the Genetic Imprints of Mongolians on Modern Human Populations
Mongolians have played a significant role in modern human evolution, especially after the rise of Genghis Khan (1162[?]–1227). Although the social cultural impacts of Genghis Khan and the Mongolian population have been well documented, explorations of their genome structure and genetic imprints on other human populations have been lacking. We here present the genome of a Mongolian male individual. The genome was de novo assembled using a total of 130.8-fold genomic data produced from massively parallel whole-genome sequencing. We identified high-confidence variation sets, including 3.7 million single nucleotide polymorphisms (SNPs) and 756,234 short insertions and deletions. Functional SNP analysis predicted that the individual has a pathogenic risk for carnitine deficiency. We located the patrilineal inheritance of the Mongolian genome to the lineage D3a through Y haplogroup analysis and inferred that the individual has a common patrilineal ancestor with Tibeto-Burman populations and is likely to be the progeny of the earliest settlers in East Asia. We finally investigated the genetic imprints of Mongolians on other human populations using different approaches. We found varying degrees of gene flows between Mongolians and populations living in Europe, South/Central Asia, and the Indian subcontinent. The analyses demonstrate that the genetic impacts of Mongolians likely resulted from the expansion of the Mongolian Empire in the 13th century. The genome will be of great help in further explorations of modern human evolution and genetic causes of diseases/traits specific to Mongolians. Source
The Mongolian ethnic group, a population of East Asia, has approximately 10 million individuals. They primarily reside in China, Mongolia, Russia, the Republic of Kazakhstan, and other countries. The ethnogenesis of Mongolians is vaguely known. It was first recorded during the Tang Dynasty as “Mongol” or “Meng-wu,” a tribe of the Shih-wei (Twitchett and Fairbank 1994). The group is broadly considered to be a founding population of the New World (Kolman et al. 1996; Merriwether et al. 1996; Starikovskaya et al. 2005; Reich et al. 2012). The rise of the Mongolian Empire and conquests of the Eurasia continent (from the 13th to 19th centuries) (Twitchett and Fairbank 1994; Weatherford 2005) under Genghis Khan and his successors have played a major role in the last 1,000 years of human evolution. Known as a typical nomadic people, Mongolians have evolved into a modern day ethnic group with their own culture, language, life style (Komatsu et al. 2006, 2008, 2009), and phenotypic and physiological traits (Zheng et al. 2002) through recent adaptation to characteristic environments. Source
Molecular genetic survey and forensic characterization of Chinese Mongolians via the 47 autosomal insertion/deletion marker. More…
Population Dynamics and the Rise of Empires in Inner Asia More…
Population origins in Mongolia: Genetic structure analysis of ancient and modern DNA More…
Medical and Health Concerns and the Reason for Epigenetics Research
The genomic landscape of Mongolian hepatocellular carcinoma More…
Mongolia has the highest reported incidence of—and mortality from—HCC in the world, which is between three and seven times higher than that observed in other high-incidence populations, such as South Korea, Thailand, and China. Source
Hotspot mutations in Mongolian hepatocellular carcinoma:
Mongolia has the highest incidence of hepatocellular carcinoma (HCC) in the world, but its causative factors and underlying tumor biology remain unknown. In Mongolia, where cancer is the second most common cause of death accounting for nearly a fifth of all deaths, HCC is the most prevalent cancer type accounting for ~40% of all cancers. Besides chronic infection with HBV and/or HCV, present in more than 90% of Mongolian HCC cases6,7, the etiology of Mongolian HCC may also be related to the extraordinarily high prevalence of hepatitis delta virus (HDV) Source
Geographical distribution of star-cluster chromosomes. Populations are shown as circles with an area proportional to sample size; star-cluster chromosomes are indicated by green sectors. The shaded area represents the extent of Genghis Khan’s empire at the time of his death (Morgan 1986).
Mongolian tribes cluster with East Asians, closely related to the Japanese More…
The Y chromosome of a single individual has spread rapidly and is now found in ∼8% of the males throughout a large part of Asia. Indeed, if our sample is representative, this chromosome will be present in about 16 million men, ∼0.5% of the world’s total. The available evidence suggests that it was carried by Genghis Khan. His Y chromosome would obviously have had ancestors, and our best estimate of the TMRCA of star-cluster chromosomes lies several generations before his birth. Several scenarios, which are not mutually exclusive, could explain its rapid spread: (1) all populations carrying star-cluster chromosomes could have descended from a common ancestral population in which it was present at high frequency; (2) many or most Mongols at the time of the Mongol empire could have carried these chromosomes; (3) it could have been restricted to Genghis Khan and his close male-line relatives, and this specific lineage could have spread as a result of their activities. Explanation 1 is unlikely because these populations do not share other Y haplotypes, and explanation 2 is difficult to reconcile with the high Y-haplotype diversity of modern Mongolians (Zerjal et al. 2002). The historically documented events accompanying the establishment of the Mongol empire would have contributed directly to the spread of this lineage by Genghis Khan and his relatives, but perhaps as important was the establishment of a long-lasting male dynasty. This scenario shows selection acting on a group of related men; group selection has been much discussed (Wilson and Sober 1994) and is distinguished by the property that the increased fitness of the group is not reducible to the increased fitness of the individuals. It is unclear whether this is the case here. Our findings nevertheless demonstrate a novel form of selection in human populations on the basis of social prestige. A founder effect of this magnitude will have influenced allele frequencies elsewhere in the genome: mitochondrial DNA lineages will not be affected, since males do not transmit their mitochondrial DNA, but, in the simplest models, the founder male will have been the ancestor of each autosomal sequence in ∼4% of the population and X-chromosomal sequence in ∼2.7%, with implications for the medical genetics of the region. Large-scale changes to patterns of human genetic variation can occur very quickly. Although local influences of this kind may have been common in human populations, it is, perhaps, fortunate that events of this magnitude have been rare. Source
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