Haplogroup Q-M120

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.

Haplogroup Q-M120
Possible time of origin	15 400 ybp
Possible place of origin	Asia
Ancestor	Q1a1a (F746/NWT01)
Defining mutations	M120 and M265 (AKA N14)

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

The Americas

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.

Asia

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] and Azerbaijanis.^[2] Sengupta et al. (2006) reported finding Q-M120 in the HGDP sample of Pakistani Hazaras,^[18] 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.^[19] 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
Dungan (Kyrgyzstan)		Wells 2001[7]	3/40	~7.5%	M120
Han (Henan)		Su 2000[6]	2/28	~7.1%	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
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
Han (Jiangsu)		Su 2000[6]	1/55	~1.8%	M120
Mongolia		Di Cristofaro 2013[12]	2/160	~1.25%	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.^[20]

Europe

To date, Q-M120 has not been detected in European populations.

Associated SNPs

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

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

• Human Y-chromosome DNA haplogroup

Y-DNA Q-M242 subclades

• Q-M242
• Q-L275
• Q-L330
• Q-L717
• Q-L940
• Q-L53
• Q-L54
• Q-M120
• Q-M25
• Q-M3
• Q-M323
• Q-M346
• Q-NWT01
• Q-P89.1
• Q-Z780

Y-DNA backbone tree

References

1. 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 – via Taylor & Francis Online.
2. YFull Haplogroup YTree v6.03.05 at 20 July 2018. Accessed July 20, 2018.
3. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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.
19. 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
20. 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 – via Taylor & Francis Online.

External links

• The Y-DNA Haplogroup Q Project