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The Genetic Legacy of the Mongols
Open accessAbstract
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.
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TL;DR
The paper identifies a Y-chromosomal lineage, the “star cluster,” that spread rapidly across Asia within the last ~1,000 years and is now carried by ~8% of men in the region. The authors argue this spread cannot be explained by chance and propose it resulted from social selection linked to Genghis Khan and his male relatives.
Key findings
- A closely related Y-chromosomal lineage in haplogroup C*(xC3c), called the “star cluster,” was found in 16 populations from Central Asia to the Pacific; it represents ~8% of males in the region and, if the sample is representative, ~16 million men, or ~0.5% of the world’s total.
- TMRCA estimates were ~1,000 years (95% CI ~700–1,300 years) with BAT-WING and ~860 years (~590–1,300 years) with the r method; the most likely place of origin was Mongolia.
- Neutrality was rejected: under double exponential growth, the probability of the observed low variation at ~8% frequency was <10^-237, and even with a 10-fold lower mutation rate it was still <10^-10.
- The authors propose the lineage spread through Genghis Khan and his male relatives via a novel form of social selection; Hazara oral genealogies and Y profiles support a link, and in simplest models the founder male would contribute ~4% of autosomal and ~2.7% of X-chromosomal ancestry in the affected population.
Methods
- Y-chromosomal haplotypes were generated for 2,123 men, including 1,126 individuals described elsewhere, using binary markers and 16 Y microsatellites; DYS19 was excluded from network analysis because it is duplicated in haplogroup C.
- The star cluster was defined as haplotypes linked without gaps to the central haplotype in a median-joining network of haplogroup C*(xC3c).
- TMRCA was estimated with BAT-WING and an r method assuming a 30-year generation time; neutrality was tested using a method that compares observed lineage frequency with its level of variation under demographic models.
Limitations
- The paper states that Genghis Khan’s remains cannot be examined directly, so the link to him relies on historical inference and Hazara oral genealogy/Y-profile comparison.
- The paper states that biological selection cannot be entirely ruled out and that whether the case represents group selection is unclear.
- The paper’s 16-million/0.5% estimate is explicitly conditional on the sample being representative; TMRCA estimates depend on demographic models and the assumed 30-year generation time, and the star-cluster definition uses a network-based inclusion criterion (the latter two are evident from the methods).
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Claims the paper makes
21 Own interpretation · 10 Own result · 9 Sources not found · 4 Check pending · 3 No full text of the sources
In the paper
“Even with the demographic model most likely to lead to rapid increase of the lineage, double exponential growth, the probability was !10 Ϫ237”
What the sources say
- Check pendingcites Slatkin and Bertorelle 2001 source
plain- Asserted: passes — The authors put it forward as true.
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In the paper
“With this program, we estimated ∼1,000 years for the TMRCA (95% confidence interval limits ∼700-1,300 years).”
hedged- Asserted: passes — The authors put it forward as true.
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- Load-bearing: passes — The paper’s conclusions depend on it.
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In the paper
“Second, star-cluster chromosomes were found in 16 populations throughout a large geographical area extending from Central Asia to the Pacific (fig.2)”
- Also stated in: § Figure 2 · plain
“It was found in 16 populations throughout a large region of Asia, stretching from the Pacific to the Caspian Sea”
plainn = 2,123- Asserted: passes — The authors put it forward as true.
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- Load-bearing: passes — The paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
- Also stated in: § Figure 2 · plain
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In the paper
“The star-cluster pattern is unique.”
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In the paper
“First, there was a high frequency of a cluster of closely related lineages, collectively called the “star cluster” (fig. 1, shaded area).”
plainn = 2,123- Asserted: passes — The authors put it forward as true.
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Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“We did not find evidence to support the previous proposition that this lineage has direct connections with Genghis Khan himself [1].”
From Whole-sequence analysis indicates that the Y chromosome C2*-Star Cluster traces back to ordinary Mongols, rather than Genghis Khan (2018) · cites this paper as [1]
In the citing paper
“High frequency microsatellite haplotypes of the male-specific Y chromosome can signal past episodes of high reproductive success of particular men and their patrilineal descendants.”
From Y-chromosome descent clusters and male differential reproductive success: young lineage expansions dominate Asian pastoral nomadic populations (2015) · cites this paper as [5]
In the citing paper
“The lineage is characterised by a high-frequency Y-microsatellite haplotype and a set of close mutational neighbours - a so-called ‘star-cluster’.”
From Y-chromosome descent clusters and male differential reproductive success: young lineage expansions dominate Asian pastoral nomadic populations (2015) · cites this paper as [5]
In the citing paper
“The two previously recognised Asian star-clusters (‘Khan’ and ‘Giocangga’5,7), are identified here, and correspond to DCs 1 and 8 respectively.”
From Y-chromosome descent clusters and male differential reproductive success: young lineage expansions dominate Asian pastoral nomadic populations (2015) · cites this paper as [5]
In the citing paper
“Previously, two examples of such successful Y-lineages have been described in Asia, both associated with Altaic-speaking pastoral nomadic societies, and putatively linked to dynasties descending respectively from Genghis Khan and Giocangga.”
From Y-chromosome descent clusters and male differential reproductive success: young lineage expansions dominate Asian pastoral nomadic populations (2015) · cites this paper as [5]
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Citations
Cites
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Qamar, R., Ayub, Q., Mohyuddin, A., Helgason, A., Mazhar, K., Mansoor, A., Zerjal, T., Tyler-Smith, C., & Mehdi, S. Q. (2002) · The American Journal of Human Genetics · doi:10.1086/339929 · Cited by 236
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A genetic landscape reshaped by recent events: Y-chromosomal insights into Central Asia
Zerjal, T., Wells, R. S., Yuldasheva, N., Ruzibakiev, R., & Tyler-Smith, C. (2002) · The American Journal of Human Genetics · doi:10.1086/342096 · Cited by 138
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Self-citationThe use of intraallelic variability for testing neutrality and estimating population growth rate
Slatkin, M., & Bertorelle, G. (2001) · Genetics · doi:10.1093/genetics/158.2.865 · Cited by 44
Self-citationY-chromosomal STR haplotypes in Pakistani populations
Mohyuddin, A., Ayub, Q., Qamar, R., Zerjal, T., Helgason, A., Mehdi, S. Q., & Tyler-Smith, C. (2001) · Forensic Science International · doi:10.1016/s0379-0738(01)00382-6 · Cited by 25
Self-citation
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Jobling, M. A., & Tyler‐Smith, C. (2003) · Nature Reviews Genetics · doi:10.1038/nrg1124 · Cited by 988
Self-citationEvolution, the Extended Synthesis
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A genetic atlas of human admixture history
Hellenthal, G., Busby, G. B. J., Band, G., Wilson, J. F., Capelli, C., Falush, D., & Myers, S. (2014) · Science · doi:10.1126/science.1243518 · Cited by 798
Does sexual selection explain human sex differences in aggression?
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Metadata
- Authors
- Zerjal, T., Xue, Y., Bertorelle, G., Wells, R. S., Bao, W., Zhu, S., Qamar, R., Ayub, Q., Mohyuddin, A., Fu, S., Li, P., Yuldasheva, N., Ruzibakiev, R., Xu, J., Shu, Q., Du, R., Yang, H., Hurles, M. E., Robinson, E., Gerelsaikhan, T., Dashnyam, B., Mehdi, S. Q., & Tyler-Smith, C.
- Affiliations
- University of Oxford (GB)
- Harbin Medical University (CN)
- University of Ferrara (IT)
- Centre for Human Genetics (GB)
- Chinese Academy of Sciences (CN)
- Academy of Sciences Republic of Uzbekistan (UZ)
- University of Cambridge (GB)
- Mongolian Academy of Sciences (MN)
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2003-03
- Volume
- 72
- Issue
- 3
- Pages
- 717-721
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1180246
- OpenAlex
- W2142431182
- Semantic Scholar
- 57630a24778cb093bf34e5e6a9d94d4ce9a4da5d
- Cited by
- 563
- References
- 14
- Citations by year
- 2026: 10 · 2025: 20 · 2024: 17 · 2023: 21 · 2022: 20 · 2021: 41 · 2020: 26 · 2019: 18 · 2018: 23 · 2017: 25 · 2016: 26 · 2015: 31 · 2014: 26 · 2013: 14 · 2012: 26
- FWCI
- 6.53
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (publishedVersion)
- HAL (submittedVersion, other-oa)
- Institutional Research Information System University of Ferrara (University of Ferrara) (submittedVersion)
- Funders
- Wellcome Trust
- Royal Society
- National Natural Science Foundation of China
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Social Sciences › Arts and Humanities › History › Eurasian Exchange Networks
- Keywords
- Y-chromosome lineages, Genghis Khan, social selection, Mongol expansion, population genetics, genetic ancestry, East Asia
- MeSH terms
- Chromosome Mapping, Geography, Haplotypes, Humans, Male, Models, Genetic, Mongolia, Mutation, Russia, Selection, Genetic, Time, Chromosomes, Human, Y, Asian People
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