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Y-chromosome descent clusters and male differential reproductive success: young lineage expansions dominate Asian pastoral nomadic populations
Open accessAbstract
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. 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. Here we surveyed a total of 5321 Y-chromosomes from 127 Asian populations, including novel Y-SNP and microsatellite data on 461 Central Asian males, to ask whether additional lineage expansions could be identified. Based on the most frequent eight-microsatellite haplotypes, we objectively defined 11 descent clusters (DCs), each within a specific haplogroup, that represent likely past instances of high male reproductive success, including the two previously identified cases. Analysis of the geographical patterns and ages of these DCs and their associated cultural characteristics showed that the most successful lineages are found both among sedentary agriculturalists and pastoral nomads, and expanded between 2100 BCE and 1100 CE. However, those with recent origins in the historical period are almost exclusively found in Altaic-speaking pastoral nomadic populations, which may reflect a shift in political organisation in pastoralist economies and a greater ease of transmission of Y-chromosomes through time and space facilitated by the use of horses.
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TL;DR
Analyzing 5,321 Y chromosomes from 127 Asian populations, the authors identified 11 descent clusters (DCs) representing likely past episodes of high male reproductive success, including the Genghis Khan and Giocangga lineages. DCs expanded between 2100 BCE and 1100 CE, but historical-period expansions were almost exclusively in Altaic-speaking pastoral nomadic populations.
Key findings
- Eleven DCs were objectively defined from the 15 most frequent 8-microsatellite haplotypes; 2,000 of 5,321 males (37.8%) carried DC chromosomes, only 3 of 127 populations lacked any DC chromosomes, and DC proportions per population ranged from 5% to 96.7%.
- TMRCA estimates ranged from 900 to 4,100 YA: six DCs began in protohistorical times (2100–300 BCE), mainly in agricultural populations speaking Indo-European and Austro-Asiatic languages, while four began in historical times (700–1100 CE).
- The historical-period DCs 1, 8, and 10 (700–1060 CE) encompassed 79% of individuals in historical expansions and were almost exclusively detected in Altaic-speaking pastoral nomadic populations; DC1 and DC8 correspond to the previously recognized “Khan” and “Giocangga” lineages, with DC1 estimated at 1090 CE, representing 2.7% of the dataset and the highest number of identical Y-chromosomes (N=71).
- Co-inertia analysis found a significant correlation between genetic and cultural patterns (Rv=0.47, p<0.0001, N=95): DCs 1/8/10 associated with Altaic languages and pastoral nomadism, DCs 2/5 with Indo-European languages and agriculture, and DCs 12/14 with Sino-Tibetan/Austro-Asiatic languages and a “multiple” mode of subsistence.
Methods
- The study analyzed 5,321 male Y chromosomes from 127 Asian populations, including 461 newly collected Central Asian samples and 4,860 previously published samples; populations with fewer than 15 individuals were excluded.
- Up to 31 binary Y-SNP markers and eight Y-microsatellites (DYS19, DYS389I, DYS389b, DYS390, DYS391, DYS392, DYS393, DYS439) were typed; DCs were extracted with a “Cluster Generator” script using a conservative single-step mutational model.
- TMRCAs were estimated with BATWING under an exponential growth model, a microsatellite mutation rate of 0.0028 per locus per generation, and a 30-year generation time; PCA and co-inertia analysis (with 1,000 Monte-Carlo permutations) tested associations between DC frequencies and cultural features.
Limitations
- Stated: BATWING dating provides estimates with large confidence intervals; pinpointing historical figures would require ancient DNA testing and/or comparison with certified living descendants, which was not attempted; further ancient DNA and next-generation sequencing were suggested to refine the expansion histories.
- Stated: DC4 was restricted to Korea and excluded from inter-population analysis; microsatellite variance was used only where populations had more than seven DC chromosomes to avoid variance bias; the conservative single-step DC model was chosen because an alternative “single-step + 10% two-steps” model incorporated unrelated chromosomes from distinct haplogroups.
- Evident: the cultural and geographic associations are correlational, and links to specific dynasties or historical figures are presented as possibilities (“could be linked,” “may be associated”); the study uses Y-lineage frequency as an indirect proxy for past reproductive success and does not measure fertility or reproductive success directly.
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31 Own result · 19 Check pending · 18 Own interpretation · 7 Not checked yet · 6 No full text of the sources · 4 Own method · 1 No basis given
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In the paper
“These expansions show high variance values not only at their sources, but also in other locations (Supplementary Table 3)”
§ Y-chromosome descent clusters and male differential reproductive success: Young lineage expansions dominate Asian pastoral nomadic populations > Results > Associating protohistorical and historical expansions with subsistence mode and language
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In the paper
“DCs 5, 12, 14 have their putative sources centred both on the Fertile Crescent and South-East Asia - places known as centres of agricultural innovation38”
§ Y-chromosome descent clusters and male differential reproductive success: Young lineage expansions dominate Asian pastoral nomadic populations > Results > Associating protohistorical and historical expansions with subsistence mode and language
What the sources say
- Not checked — no full text of the sourcecites [38] Jobling MA, Hollox EJ, Hurles ME, Kivisild T, Tyler-Smith C : Agricultural expansions; in Human Evolutionary Genetics. New York and London: Garland Science, 2013, 2nd edn, pp 362–407. source
hedged- Asserted: passes — The authors put it forward as true.
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In the paper
“Our study highlights a difference in population composition between protohistorical and historical periods.”
§ Y-chromosome descent clusters and male differential reproductive success: Young lineage expansions dominate Asian pastoral nomadic populations > Discussion > A shift from sedentary agriculturalist to pastoral nomadic populations for successful Y-lineages
plainstates an association- Asserted: passes — The authors put it forward as true.
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In the paper
“Mean TMRCA estimates range from 900 to 4100 YA.”
§ Y-chromosome descent clusters and male differential reproductive success: Young lineage expansions dominate Asian pastoral nomadic populations > Results > Characteristics of descent clusters
plain- Asserted: passes — The authors put it forward as true.
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In the paper
“Four expansions date to the historical period (700 - 1100 CE).”
§ Y-chromosome descent clusters and male differential reproductive success: Young lineage expansions dominate Asian pastoral nomadic populations > Results > Associating protohistorical and historical expansions with subsistence mode and language
plain- Asserted: passes — The authors put it forward as true.
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- Based: passes — The paper gives a reason why it holds.
- It may state two separate claims as one. 42
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In the citing paper
“As discussed by Zakharov et al. [4] some studies have opposed the connection between C2*-ST and Genghis Khan [5][6][7][8][9][10].”
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 [9]
In the citing paper
“However, based on all available data in the literature and the results reported in this study [4][5][6][7][8][9][10], none of the donors who carried C2*-ST can trace their genealogy to Genghis Khan, and none of the self-claimed direct descendants of Genghis Khan carry C2*-ST.”
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 [9]
In the citing paper
“We find that rapid expansions are not confined to unusual circumstances30,31.”
From Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences (2016) · cites this paper as [31]
In the citing paper
“The estimated age of the μ cluster (1100 ± 300 years) aligns with previous estimations of ~1000 years21, 30, 39.”
From The Connection of the Genetic, Cultural and Geographic Landscapes of Transoxiana (2017) · cites this paper as [30]
In the citing paper
“Central Asians are also the only population to have star-shaped expansions of Y-chromosomes within the historical period”
From Cultural hitchhiking and competition between patrilineal kin groups explain the post-Neolithic Y-chromosome bottleneck (2018) · cites this paper as [60]
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Rated minor: it would not touch a result — a value no result rests on, a p-value that stays on the same side of the significance level, or a conflict that is clerical, resolved elsewhere in the paper, or outside its own findings.
In the paper
§ Y-chromosome descent clusters and male differential reproductive success: Young lineage expansions dominate Asian pastoral nomadic populations > Results > Characteristics of descent clusters
“six DCs display high frequencies spread over large geographic areas (DCs 1, 2, 6, 8, 10, 14)”
§ Y-chromosome descent clusters and male differential reproductive success: Young lineage expansions dominate Asian pastoral nomadic populations > Results > Characteristics of descent clusters
“four are more restricted to specific areas (DCs 3, 5, 8, 12)”
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Metadata
- Authors
- Balaresque, P., Poulet, N., Cussat-Blanc, S., Gerard, P., Quintana-Murci, L., Heyer, E., & Jobling, M. A.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- French National Agency for Water and Aquatic Environments (FR)
- University of Leicester (GB)
- Corresponding author
- Balaresque, Patricia
- Jobling, Mark A
- Venue
- European Journal of Human Genetics
- Published
- 2015-01-14
- Volume
- 23
- Issue
- 10
- Pages
- 1413-1422
- ISSN
- 1018-4813 (ISSN-L)
- 1476-5438
- PMC
- PMC4430317
- OpenAlex
- W1994326824
- Semantic Scholar
- add1103d68decb33940c1d33817b4a5661795617
- Cited by
- 89
- References
- 51
- Citations by year
- 2025: 5 · 2024: 3 · 2023: 3 · 2022: 8 · 2021: 10 · 2020: 5 · 2019: 7 · 2018: 11 · 2017: 20 · 2016: 10 · 2015: 7
- FWCI
- 7.81
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- European Journal of Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Open Archive Toulouse Archive Ouverte (University of Toulouse) (acceptedVersion, other-oa)
- Toulouse 1 Capitole Publications (Université Toulouse I Capitole) (acceptedVersion)
- PubMed Central (acceptedVersion)
- HAL (submittedVersion, other-oa)
- HAL (submittedVersion)
- Figshare (submittedVersion, cc-by)
- Leicester Research Archive (University of Leicester) (submittedVersion)
- Funders
- Wellcome Trust (087576/B/08/Z, 057559/Z/99/B)
- Centre National de la Recherche Scientifique
- Conseil Régional Midi-Pyrénées
- European Regional Development Fund
- 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
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- male reproductive success, Y-SNPs, nomadic pastoralists, Central Asian populations, Genghis Khan, dynastic lineage, horse use, political organization, Asian populations
- MeSH terms
- Geography, Haplotypes, Humans, Male, Phylogeny, Reproduction, Transients and Migrants, Microsatellite Repeats, Polymorphism, Single Nucleotide, Chromosomes, Human, Y, Asian People
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