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Haplogroup Q-M120

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Haplogroup Q-M120
Possible time of origin15 400 ybp
Possible place of originAsia or South Siberia[1]
AncestorQ1a1a (F746/NWT01)
Defining mutationsM120 and M265 (AKA N14)

Haplogroup Q-M120, also known as Q1a1a1, is a Y-DNA haplogroup. It is the only primary branch of haplogroup Q1a1a (F746/NWT01). The lineage is most common amongst modern populations in eastern Eurasia.

But the haplogroup might have been historically widespread in the Eurasian steppe and north Asia since it is found among Cimmerians in Moldova and Bronze Age natives of Khövsgöl.[1]

Distribution

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The Americas

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One of the 1K Genomes samples, HG01944, from Peruvians in Lima, Peru belongs to Q-M120.[2][3] Q-M120 is the other branch under Q-F746. It is best known as an East Asian branch of Q. This is intriguing; if it is not a result of post-colonial admixture, it will mark a fourth or fifth Q lineage in the Americas. The branch of Q-M120 including this sample has a calculated TMRCA of 5,000 to 7,000 years,[2] meaning that it may be the result of a later pre-Columbian immigration from North or East Asia.

Grugni et al. (2019) found the presence of the Q-pre-M120 lineage, a precursor to Q-M120, among the Tsimshian people in Alaska.[4]

Asia

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Q-M120 is present in Eastern Asia and may trace its origin to East Asia.[4][5][6] It has been found at low frequency in samples of Han Chinese,[5][6] Dungans,[7] Hmong Daw in Laos,[8] Japanese,[9] Dörwöd Kalmyks,[10] Koreans,[7] Mongols,[11][12] Tibetans,[6][13][14] Uygurs,[15] and Vietnamese.[2][3] It also has been found among Bhutanese,[16] Murut people in Brunei,[17] Tuvans,[18] Nivkhs,[19] Koryaks,[19] Yukaghirs,[19] and Azerbaijanis.[2] Sengupta et al. (2006) reported finding Q-M120 in the HGDP sample of Pakistani Hazaras,[20] but the Bayesian tree in Supplementary Figure 12 of Lippold et al. (2014) suggests that these HGDP Pakistani Hazara individuals more likely should belong to Q-L275, and that three members of the HGDP Naxi sample and one member of the HGDP Han sample should belong to Q-M120 instead.[21] Di Cristofaro et al. (2013) tested the same sample of Pakistani Hazaras and reported that they belonged to the following Y-DNA haplogroups: 1/25 C-PK2/M386(xM407, M532), 9/25 C-M401, 1/25 I-M223, 1/25 J-M530, 2/25 O-M122(xM134), 1/25 Q-M242(xM120, M25, M346, M378), 1/25 Q-M378, 1/25 R-M124, 8/25 R-M478/M73.[12]

Population Paper N Percentage SNP Tested
Nivkh (Sakhalin) Kharkov 2024[19] 3/37 ~8.1% M120
Dungan (Kyrgyzstan) Wells 2001[7] 3/40 ~7.5% M120
Han (Henan) Su 2000[6] 2/28 ~7.1% M120
Koryak Kharkov 2024[19] 1/20 ~5.0% M120
Han (Anhui) Su 2000[6] 1/22 ~4.6% M120
Northern Han Su 2000[6] 1/22 ~4.5% M120
Kinh
(Ho Chi Minh City)		 Poznik 2016[3] 2/46 ~4.3% M120
Tuvan (Kungurtug) Luis 2023[18] 1/24 ~4.17% M120
Evenk (Yakutia) Kharkov 2024[19] 1/28 ~3.5% M120
Han (Shanghai) Su 2000[6] 1/30 ~3.3% M120
Han (Shandong) Su 2000[6] 1/32 ~3.1% M120
Korea Wells 2001[7] 1/45 ~2.2% M120
Tibetan (Lhasa) Su 2000[6] 1/46 ~2.2% M120
Tibet Gayden 2007[13] 2/156 ~1.3% M120
Han (Shanxi) Zhong 2010[15] 1/56 ~1.8% M120
Uygur (Xinjiang) Zhong 2010[15] 1/71 ~1.4% M120
Uygur (Xinjiang) Zhong 2010[15] 1/50 ~2.0% M120
Hmong Daw (Laos) Cai 2011[8] 1/51 ~1.96% M120
Han (Jiangsu) Su 2000[6] 1/55 ~1.8% M120
Mongolia Di Cristofaro 2013[12] 2/160 ~1.25% M120
Dörwöd Kalmyk Malyarchuk 2013[10] 4/426 ~0.9% M120
Japan Nonaka 2007[9] 1/263 ~0.38% M120

According to a 2019 study, Q-M120 can be found in high concentrations in the northern and eastern regions of China. To a lesser extent, it can be found in North Korea, South Korea and northern Philippines.[22]

South Asia

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Sharma et al. (2007) found Q-M120 in 1.6% (1/61) of a sample of Gujars from Jammu and Kashmir in India.[23]

Population Paper N Percentage SNP Tested
J&K Kashmir Gujars (Jammu and Kashmir, India) Sharma 2007[23] 1/61 ~1.6% M120

West Asia

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Q-M120 has been found in 4.2% (1/24) of Baloch people in Sistan and Baluchestan Province.[24]

Population Paper N Percentage SNP Tested
Baloch (Sistan and Baluchestan) Grugni 2012[24] 1/24 ~4.2% M120

Europe

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Caucasus

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Q-M120 was found in western Georgia among Imeretians.[25]

Population Paper N Percentage SNP Tested
Georgian (Imereti) Alborova 2016[25] 1/26 ~3.8% M120

Associated SNPs

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Haplogroup Q-M120 is defined by the presence of the M120 Single Nucleotide Polymorphism (SNP) as well as the M265 (AKA N14) SNP.

Phylogenetic tree

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This is Thomas Krahn at the Genomic Research Center's Draft Tree for haplogroup Q-M120.

  • Q-MEH2 MEH2, L472, L528
    • Q-M120 M120, N14/M265

See also

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Y-DNA Q-M242 subclades

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Y-DNA backbone tree

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References

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  1. ^ a b Sun, Na; Ma, Peng-Cheng; Yan, Shi; et al. (2019). "Phylogeography of Y-chromosome haplogroup Q1a1a-M120, a paternal lineage connecting populations in Siberia and East Asia". Annals of Human Biology. 46 (3): 261–266. doi:10.1080/03014460.2019.1632930. PMID 31208219 – via Taylor & Francis Online.
  2. ^ a b c d YFull Haplogroup YTree v6.03.05 at 20 July 2018. Accessed July 20, 2018.
  3. ^ a b c G. David Poznik, Yali Xue, Fernando L. Mendez, et al. (2016), "Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences." Nature Genetics 2016 June ; 48(6): 593–599. doi:10.1038/ng.3559.
  4. ^ a b Grugni, Viola; Raveane, Alessandro; Ongaro, Linda; Battaglia, Vincenza; Trombetta, Beniamino; Colombo, Giulia; Capodiferro, Marco Rosario; Olivieri, Anna; Achilli, Alessandro; Perego, Ugo A.; Motta, Jorge; Tribaldos, Maribel; Woodward, Scott R.; Ferretti, Luca; Cruciani, Fulvio (2019). "Analysis of the human Y-chromosome haplogroup Q characterizes ancient population movements in Eurasia and the Americas". BMC Biology. 17 (1): 3. doi:10.1186/s12915-018-0622-4. ISSN 1741-7007. PMC 6345020. PMID 30674303.
  5. ^ a b Wen B; Li H; Lu D; et al. (September 2004). "Genetic evidence supports demic diffusion of Han culture". Nature. 431 (7006): 302–5. Bibcode:2004Natur.431..302W. doi:10.1038/nature02878. PMID 15372031. S2CID 4301581. – Supplementary Table 2: NRY haplogroup distribution in Han populations
  6. ^ a b c d e f g h i j Su, Bing; Xiao, Chunjie; Deka, Ranjan; Seielstad, Mark T.; Kangwanpong, Daoroong; Xiao, Junhua; Lu, Daru; Underhill, Peter; Cavalli-Sforza, Luca (2000). "Y chromosome haplotypes reveal prehistorical migrations to the Himalayas". Human Genetics. 107 (6): 582–90. doi:10.1007/s004390000406. PMID 11153912. S2CID 36788262.
  7. ^ a b c d Wells RS; Yuldasheva N; Ruzibakiev R; et al. (August 2001). "The Eurasian Heartland: A continental perspective on Y-chromosome diversity". Proc. Natl. Acad. Sci. U.S.A. 98 (18): 10244–9. Bibcode:2001PNAS...9810244W. doi:10.1073/pnas.171305098. PMC 56946. PMID 11526236. – Table 1: Y-chromosome haplotype frequencies in 49 Eurasian populations, listed according to geographic region
  8. ^ a b Cai X, Qin Z, Wen B, Xu S, Wang Y, et al. (2011), "Human Migration through Bottlenecks from Southeast Asia into East Asia during Last Glacial Maximum Revealed by Y Chromosomes." PLoS ONE 6(8): e24282. doi:10.1371/journal.pone.0024282
  9. ^ a b Nonaka, I.; Minaguchi, K.; Takezaki, N. (2007). "Y-chromosomal Binary Haplogroups in the Japanese Population and their Relationship to 16 Y-STR Polymorphisms". Annals of Human Genetics. 71 (4): 480–95. doi:10.1111/j.1469-1809.2006.00343.x. hdl:10130/491. PMID 17274803. S2CID 1041367.
  10. ^ a b Boris Malyarchuk, Miroslava Derenko, Galina Denisova, Sanj Khoyt, Marcin Woźniak, Tomasz Grzybowski, and Ilya Zakharov, "Y-chromosome diversity in the Kalmyks at the ethnical and tribal levels." Journal of Human Genetics (2013) 58, 804–811; doi:10.1038/jhg.2013.108
  11. ^ Battaglia V, Grugni V, Perego UA, Angerhofer N, Gomez-Palmieri JE, et al. (2013), "The First Peopling of South America: New Evidence from Y-Chromosome Haplogroup Q." PLoS ONE 8(8): e71390. doi:10.1371/journal.pone.0071390
  12. ^ a b c Di Cristofaro J, Pennarun E, Mazières S, Myres NM, Lin AA, et al. (2013) "Afghan Hindu Kush: Where Eurasian Sub-Continent Gene Flows Converge." PLoS ONE 8(10): e76748. doi:10.1371/journal.pone.0076748
  13. ^ a b Gayden T; Cadenas AM; Regueiro M; et al. (May 2007). "The Himalayas as a Directional Barrier to Gene Flow". Am. J. Hum. Genet. 80 (5): 884–94. doi:10.1086/516757. PMC 1852741. PMID 17436243.
  14. ^ Wang C-C, Wang L-X, Shrestha R, Zhang M, Huang X-Y, et al. (2014), "Genetic Structure of Qiangic Populations Residing in the Western Sichuan Corridor." PLoS ONE 9(8): e103772. doi:10.1371/journal.pone.0103772
  15. ^ a b c d Zhong, H.; Shi, H.; Qi, X.-B.; Duan, Z.-Y.; Tan, P.-P.; Jin, L.; Su, B.; Ma, R. Z. (2010). "Extended Y Chromosome Investigation Suggests Postglacial Migrations of Modern Humans into East Asia via the Northern Route". Molecular Biology and Evolution. 28 (1): 717–27. doi:10.1093/molbev/msq247. PMID 20837606.
  16. ^ Pille Hallast, Chiara Batini, Daniel Zadik, et al., "The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades." Molecular Biology and Evolution Advance Access publication December 2, 2014. doi:10.1093/molbev/msu327
  17. ^ Monika Karmin, Lauri Saag, Mário Vicente, et al. (2015), "A recent bottleneck of Y chromosome diversity coincides with a global change in culture." Genome Research 25:1–8. Published by Cold Spring Harbor Laboratory Press; ISSN 1088-9051/15; www.genome.org.
  18. ^ a b Luis, Javier Rodriguez; Palencia-Madrid, Leire; Garcia-Bertrand, Ralph; Herrera, Rene J. (2023-01-23). "Bidirectional dispersals during the peopling of the North American Arctic". Scientific Reports. 13 (1): 1268. Bibcode:2023NatSR..13.1268L. doi:10.1038/s41598-023-28384-8. ISSN 2045-2322. PMC 9871004. PMID 36690673.
  19. ^ a b c d e f Kharkov, V. N.; Kolesnikov, N. A.; Valikhova, L. V.; Zarubin, A. A.; Sukhomyasova, A. L.; Khitrinskaya, I. Yu.; Stepanov, V. A. (2024-10-09). "Traces of Paleolithic expansion in the Nivkh gene pool based on data on autosomal SNP and Y chromosome polymorphism". Vavilov Journal of Genetics and Breeding. 28 (6): 659–666. doi:10.18699/vjgb-24-73. ISSN 2500-3259. PMC 11496309. PMID 39445096.
  20. ^ Sengupta, Sanghamitra; Zhivotovsky, Lev A.; King, Roy; Mehdi, S.Q.; Edmonds, Christopher A.; Chow, Cheryl-Emiliane T.; Lin, Alice A.; Mitra, Mitashree; Sil, Samir K. (2006). "Polarity and Temporality of High-Resolution Y-Chromosome Distributions in India Identify Both Indigenous and Exogenous Expansions and Reveal Minor Genetic Influence of Central Asian Pastoralists". The American Journal of Human Genetics. 78 (2): 202–21. doi:10.1086/499411. PMC 1380230. PMID 16400607.
  21. ^ Sebastian Lippold, Hongyang Xu, Albert Ko, Mingkun Li, Gabriel Renaud, Anne Butthof, Roland Schröder, and Mark Stoneking, "Human paternal and maternal demographic histories: insights from high-resolution Y chromosome and mtDNA sequences." Investigative Genetics 2014, 5:13. http://www.investigativegenetics.com/content/5/1/13
  22. ^ Sun, Na; Ma, Peng-Cheng; Yan, Shi; et al. (2019). "Phylogeography of Y-chromosome haplogroup Q1a1a-M120, a paternal lineage connecting populations in Siberia and East Asia". Annals of Human Biology. 46 (3): 261–266. doi:10.1080/03014460.2019.1632930. PMID 31208219 – via Taylor & Francis Online.
  23. ^ a b Sharma, Swarkar; Rai, Ekta; Bhat, Audesh K.; Bhanwer, Amarjit S.; Bamezai, Rameshwar NK (2007-11-19). "A novel subgroup Q5 of human Y-chromosomal haplogroup Q in India". BMC Evolutionary Biology. 7 (1): 232. Bibcode:2007BMCEE...7..232S. doi:10.1186/1471-2148-7-232. ISSN 1471-2148. PMC 2258157. PMID 18021436.
  24. ^ a b Grugni, Viola; Battaglia, Vincenza; Kashani, Baharak Hooshiar; Parolo, Silvia; Al-Zahery, Nadia; Achilli, Alessandro; Olivieri, Anna; Gandini, Francesca; Houshmand, Massoud; Sanati, Mohammad Hossein; Torroni, Antonio; Semino, Ornella (2012-07-18). "Ancient Migratory Events in the Middle East: New Clues from the Y-Chromosome Variation of Modern Iranians". PLOS ONE. 7 (7): e41252. Bibcode:2012PLoSO...741252G. doi:10.1371/journal.pone.0041252. ISSN 1932-6203. PMC 3399854. PMID 22815981.
  25. ^ a b Alborova, I.E.; et al. (October 2016). "FEATURES OF THE GENE POOL LAZ AND IMERETIANSS ACCORDING ABOUT Y-CHROMOSOME POLYMORPHISMS". Modern Problems of Science and Education: 315.
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