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Cited by 34Forensic and Genetic ResearchGenetic diversity and population structurePleistocene-Era Hominins and Archaeology

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Dispersals of the Siberian Y-chromosome haplogroup Q in Eurasia

Open access
Huang, Yun-Zhi, Pamjav, Horolma, Flegontov, Pavel, Stenzl, Vlastimil, Wen, Shao-Qing, Tong, Xin-Zhu, Wang, Chuan-Chao, Wang, Ling-Xiang, Wei, Lan-Hai, Gao, Jing-Yi, Jin, Li, Li, Hui·2018·Molecular Genetics and Genomics

Abstract

The human Y-chromosome has proven to be a powerful tool for tracing the paternal history of human populations and genealogical ancestors. The human Y-chromosome haplogroup Q is the most frequent haplogroup in the Americas. Previous studies have traced the origin of haplogroup Q to the region around Central Asia and Southern Siberia. Although the diversity of haplogroup Q in the Americas has been studied in detail, investigations on the diffusion of haplogroup Q in Eurasia and Africa are still limited. In this study, we collected 39 samples from China and Russia, investigated 432 samples from previous studies of haplogroup Q, and analyzed the single nucleotide polymorphism (SNP) subclades Q1a1a1-M120, Q1a2a1-L54, Q1a1b-M25, Q1a2-M346, Q1a2a1a2-L804, Q1a2b2-F1161, Q1b1a-M378, and Q1b1a1-L245. Through NETWORK and BATWING analyses, we found that the subclades of haplogroup Q continued to disperse from Central Asia and Southern Siberia during the past 10,000 years. Apart from its migration through the Beringia to the Americas, haplogroup Q also moved from Asia to the south and to the west during the Neolithic period, and subsequently to the whole of Eurasia and part of Africa.

Overview

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TL;DR

This study analyzes Y-chromosome haplogroup Q in 471 unrelated males—39 newly identified Q samples from China and Russia plus 432 published samples—to trace its Eurasian dispersals. It concludes that Q subclades continued dispersing from Central Asia and Southern Siberia over the past ~10,000 years, including Neolithic southward and westward movements into Eurasia and part of Africa.

Key findings

  • Of 471 unrelated male samples, 39 newly collected samples belonged to haplogroup Q (16 from China, 23 from Russia); 432 were from previous studies. Networks showed Q1a1a1-M120 mostly in China/Mongolia, Q1a2a1-L54 mostly in Siberia, Q1a1b-M25 in Central Asia, Q1a2-M346 in Northern Asia/Russia/Mongolia with a few African samples, and Q1b1a-M378/Q1b1a1-L245 mainly in Jewish clusters.
  • BATWING genealogical mutation-rate estimates included: Q1a1a1-M120 TMRCA 9.8–11.1 KYA and expansion 5.8–6.4 KYA; Q1a1b-M25 (Turkic) TMRCA 3.1–4.6 KYA and expansion 2.0–2.7 KYA; Q1a2-M346 (Turkic) TMRCA 4.0–5.5 KYA and expansion 3.6–4.4 KYA; Q1a2a1a2-L804 TMRCA 5.3–7.1 KYA and expansion 5.2–6.3 KYA.
  • Q1b1a-M378 (Jews) TMRCA 1.4–1.8 KYA and expansion 1.5–1.8 KYA; Q1b1a1-L245 (Jews) TMRCA 8.6–10.9 KYA and expansion 4.8–5.4 KYA; Q1a2a1-L54 (Yenisei basin) TMRCA 0.3–2.5 KYA and expansion 0.4–3.4 KYA.
  • The authors propose Q1a1a1-M120 migrated from Mongolia to China during the Neolithic and spread with Han ancestors; Q1a1b-M25 and Q1a2-M346 spread with Turkic nomads from Southern Siberia/Central Asia to Eurasia and the Comoros; Q1a2a1a2-L804 spread with early European Neolithic farmers from Central to Western/Northern Europe; Q1b1a-M378 and Q1b1a1-L245 expanded with Jewish Diaspora populations into Europe.

Methods

  • Sample: 471 unrelated males; 39 newly identified haplogroup Q samples (16 China: Bao-An, Dong-Xiang, Li-Qian, Shao-Xing; 23 Russia: Enets, Ket, Selkup) plus 432 samples from published studies.
  • Genotyping: hierarchical binary SNP genotyping by SNaPshot and fluorescent allele-specific PCR; 17 Y-STRs amplified with AmpFlSTR Yfiler; reduced-median networks in NETWORK v.5.0.0.1 for eight Q subclades using 7–15 loci; BATWING MCMC estimates of TMRCA and expansion time with four mutation rates (EMR, OMRB, OMRS, lmMR) and a 30-year generation time; Kriging contour map of Q-M242 frequencies.
  • Analysis focused on Q1a1a1-M120, Q1a2a1-L54, Q1a1b-M25, Q1a2-M346, Q1a2a1a2-L804, Q1a2b2-F1161, Q1b1a-M378, and Q1b1a1-L245.

Limitations

  • No formal limitations section is present. The paper states that a higher-resolution database would help draw more conclusions and that the authors did not discuss origins/migrations of American samples because they focused on Eurasia.
  • Evident from the text: newly identified Q samples are small (16 China, 23 Russia) and unevenly distributed; analyses combine published datasets with different loci, requiring reduced STR panels (7–15 loci); time estimates depend heavily on mutation-rate choice, with EMR producing much older TMRCAs than genealogical rates; some network clusters are based on few samples (e.g., Q1a2a1a2-L804 cluster 1: two Western European and one Northern American; Q1a2b2-F1161 cluster 1: three Northern European and one Western European).

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Integrity signals

Registry

Crossref · 10.1007/s00438-017-1363-8

Cites

87 of 87 references verified0 citation errors · 0 not checkable

Statistics

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Figures

Fig. 1 Worldwide distribution of haplogroup Q-M242. The blue star is the original place of haplogroup Q-M242, around Central Asia and Siberia. The brown number one is Russian sample location in the Krasnoyarsk Region. The brown number two is Chinese sample location in Gansu province. The brown number three is Chinese sample location in Zhejiang province. The red arrows are the expansion routes of haplogroup Q-M242. The purple words show the locations of subclades of haplogroup Q used in this study. The orange points represent the sample locations collected from published studies (ESM_2) (color figure online)
Fig. 1 Worldwide distribution of haplogroup Q-M242. The blue star is the original place of haplogroup Q-M242, around Central Asia and Siberia. The brown number one is Russian sample location in the Krasnoyarsk Region. The brown number two is Chinese sample location in Gansu province. The brown number three is Chinese sample location in Zhejiang province. The red arrows are the expansion routes of haplogroup Q-M242. The purple words show the locations of subclades of haplogroup Q used in this study. The orange points represent the sample locations collected from published studies (ESM_2) (color figure online)CC BY · PubMed Central
Fig. 2 Phylogenetic tree of Y-chromosome haplogroup Q-M242. The haplogroup labeling is in agreement with the ISOGG conventions and recent updates (ISOGG 2017). The used subclades are showed in bold
Fig. 2 Phylogenetic tree of Y-chromosome haplogroup Q-M242. The haplogroup labeling is in agreement with the ISOGG conventions and recent updates (ISOGG 2017). The used subclades are showed in boldCC BY · PubMed Central
Fig. 3 Network of Y-STR haplotypes within haplogroup Q-M242. Q1a1a1-M120: cluster 1 is shared by 16 Eastern Asian/China samples and one Eastern Asian/Mongolia. Q1a2a1-L54: cluster 1 is shared by 11 Northern Asian/Russian samples. Q1a1b-M25: cluster 1 is shared by five Central Asian samples. Q1a2-M346: cluster 1 is shared by 36 Northern Asian samples and 1 Eastern Asian/Mongolia. Q1a2a1a2-L804: cluster 1 is shared by two Western European samples and one Northern American sample. Q1a2b2-F1161: cluster 1 is shared by three Northern European samples and one Western European sample. Q1b1a-M378: cluster 1 is shared by 29 Jewish samples (14 from Central Europe; eleven from Eastern Europe; three from Southern Europe; one from Western Asia), one Western European sample, one Central European sample and one Southern Asian samples. Q1b1a1-L245: cluster 1 is shared by 37 Jewish samples (16 from Central Europe; 14 from Eastern Europe; four from Western Asia; two from Southern Europe; one from Western Europe), one Western European sample and one Southern European sample. Samples included in every cluster 1 are colored by purple in ESM_1
Fig. 3 Network of Y-STR haplotypes within haplogroup Q-M242. Q1a1a1-M120: cluster 1 is shared by 16 Eastern Asian/China samples and one Eastern Asian/Mongolia. Q1a2a1-L54: cluster 1 is shared by 11 Northern Asian/Russian samples. Q1a1b-M25: cluster 1 is shared by five Central Asian samples. Q1a2-M346: cluster 1 is shared by 36 Northern Asian samples and 1 Eastern Asian/Mongolia. Q1a2a1a2-L804: cluster 1 is shared by two Western European samples and one Northern American sample. Q1a2b2-F1161: cluster 1 is shared by three Northern European samples and one Western European sample. Q1b1a-M378: cluster 1 is shared by 29 Jewish samples (14 from Central Europe; eleven from Eastern Europe; three from Southern Europe; one from Western Asia), one Western European sample, one Central European sample and one Southern Asian samples. Q1b1a1-L245: cluster 1 is shared by 37 Jewish samples (16 from Central Europe; 14 from Eastern Europe; four from Western Asia; two from Southern Europe; one from Western Europe), one Western European sample and one Southern European sample. Samples included in every cluster 1 are colored by purple in ESM_1CC BY · PubMed Central

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Metadata

Authors
Huang, Y.-Z., Pamjav, H., Flegontov, P., Stenzl, V., Wen, S.-Q., Tong, X.-Z., Wang, C.-C., Wang, L.-X., Wei, L.-H., Gao, J.-Y., Jin, L., & Li, H.
Affiliations
  • Fudan University (CN)
  • Russian Academy of Sciences (RU)
  • Policie České republiky - Kriminalistický ústav (CZ)
  • Xiamen University (CN)
  • Institut National des Langues et Civilisations Orientales (FR)
Corresponding author
Li, Hui
Venue
Molecular Genetics and Genomics
Published
2017-09-07
Volume
293
Issue
1
Pages
107-117
ISSN
  • 1617-4623 (ISSN-L)
  • 1617-4615
OpenAlex
W2751540482
Cited by
34
References
87
Citations by year
2026: 3 · 2025: 3 · 2024: 5 · 2023: 3 · 2022: 5 · 2021: 7 · 2020: 4 · 2019: 2 · 2018: 2
FWCI
1.24
Type
journal article
Language
en
Open access
Locations
  • Molecular Genetics and Genomics (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • PubMed Central (publishedVersion, cc-by)
Funders
  • National Natural Science Foundation of China (31222030, 31671297, 31271338)
  • MOE Scientific Research Project (113022A)
  • Shanghai Shuguang Project (14SG05)
  • Ministry of Science and Technology of China (2016YFC0900300)
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 › Anthropology › Pleistocene-Era Hominins and Archaeology
Keywords
Central Asia, Southern Siberia, Neolithic migration, Beringia, migration to Africa, single nucleotide polymorphisms
MeSH terms
Asia, China, Genetics, Population, Haplotypes, Humans, Phylogeny, Siberia, Microsatellite Repeats, Polymorphism, Single Nucleotide, Chromosomes, Human, Y, Human Migration

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