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Haplogroup O-M268
Haplogroup O-M268
Possible time of origin	34,100 or 29,200 ybp; ; 33,181 [95% CI 36,879 <-> 24,461] ybp; ; 30,100 [95% CI 27,800 <-> 32,400] ybp
Coalescence age	31,108 [95% CI 34,893 <-> 22,844] ybp
Possible place of origin	Southeast Asia or East Asia
Ancestor	O1 (O-F265)
Descendants	O1b1 (K18), O1b2 (P49/https://en.wikipedia.org/wiki/Draft:Haplogroup_O-M176)
Defining mutations	P31, M268, L690/F167, F256/M1341, Y9038/FGC19644, L463/F330, M1461, F138, Y9317, FGC55566, F292/M1363, CTS4164, CTS6713/M1396, CTS5785/M1377, F435/M1417, F516, M1455
Highest frequencies	Austroasiatic-speaking peoples, Tai peoples, Hlai, Balinese, Javanese, Japanese, Ryukyuans, Koreans, Malagasy

In human genetics, Haplogroup O-M268, also known as O1b (formerly Haplogroup O2), is a Y-chromosome DNA haplogroup. Haplogroup O-M268 is a primary subclade of haplogroup O-F265, itself a primary descendant branch of Haplogroup O-M175.

Origin

In a paper published in 2011 by a group of Chinese researchers affiliated with Fudan University, it has been suggested that China is the origin of the expansion of haplogroup O-P31 (therein called Haplogroup O2-M268).^[4]

Distribution

Haplogroup O-P31 is notable for the peculiarities of its geographical distribution. Like all clades of Haplogroup O-M175, Haplogroup O-P31 is found only among the males of modern Eastern Eurasian populations. However, Haplogroup O-P31 is generally found with high frequency only among certain populations, such as the Austroasiatic peoples of India, Bangladesh and Southeast Asia, the Nicobarese of the Nicobar Islands in the Indian Ocean, Koreans, and Japanese.

Besides its widespread and patchy distribution, Haplogroup O1b-P31 is also notable for the fact that it can be divided into two primary subclades that show almost completely disjunct distribution: O1b1-M1304/K18 and O1b2-M176/P49. One of these subclades, O1b1-M1304/K18 (also known as O-F2320), can be mainly divided into two subclades, O1b1a1-PK4 (formerly O2a) and O1b1a2-CTS4040 (formerly O2*(xM95,M176)). O1b1a1-PK4 is found mainly among populations of Southeast Asia and some tribal populations of India (such as the Remo, Juang, and Nicobarese), but it is also common among minority ethnic groups in southern China, and it is found with low frequency throughout China as well as in Japan. O1b1a2-CTS4040 is relatively rare and mainly distributed in East Asia, especially in China, where it accounts for approximately 3.21% of the national male population.^[5] The other primary subclade of Haplogroup O1b-P31, i.e. Haplogroup O1b2-M176 (formerly O2b), is found in approximately one third of present-day Japanese and Korean males and with low frequency (approximately 0.69%^[6]) in Chinese males.

Phylogenetics

Phylogenetic History

Prior to 2002, there were in academic literature at least seven naming systems for the Y-Chromosome Phylogenetic tree. This led to considerable confusion. In 2002, the major research groups came together and formed the Y-Chromosome Consortium (YCC). They published a joint paper that created a single new tree that all agreed to use. Later, a group of citizen scientists with an interest in population genetics and genetic genealogy formed a working group to create an amateur tree aiming at being above all timely. The table below brings together all of these works at the point of the landmark 2002 YCC Tree. This allows a researcher reviewing older published literature to quickly move between nomenclatures.

YCC 2002/2008 (Shorthand)	(α)	(β)	(γ)	(δ)	(ε)	(ζ)	(η)	YCC 2002 (Longhand)	YCC 2005 (Longhand)	YCC 2008 (Longhand)	YCC 2010r (Longhand)	ISOGG 2006	ISOGG 2007	ISOGG 2008	ISOGG 2009	ISOGG 2010	ISOGG 2011	ISOGG 2012
O-M175	26	VII	1U	28	Eu16	H9	I	O*	O	O	O	O	O	O	O	O	O	O
O-M119	26	VII	1U	32	Eu16	H9	H	O1*	O1a	O1a	O1a	O1a	O1a	O1a	O1a	O1a	O1a	O1a
O-M101	26	VII	1U	32	Eu16	H9	H	O1a	O1a1	O1a1a	O1a1a	O1a1	O1a1	O1a1a	O1a1a	O1a1a	O1a1a	O1a1a
O-M50	26	VII	1U	32	Eu16	H10	H	O1b	O1a2	O1a2	O1a2	O1a2	O1a2	O1a2	O1a2	O1a2	O1a2	O1a2
O-P31	26	VII	1U	33	Eu16	H5	I	O2*	O2	O2	O2	O2	O2	O2	O2	O2	O2	O2
O-M95	26	VII	1U	34	Eu16	H11	G	O2a*	O2a	O2a	O2a	O2a	O2a	O2a	O2a	O2a	O2a1	O2a1
O-M88	26	VII	1U	34	Eu16	H12	G	O2a1	O2a1	O2a1	O2a1	O2a1	O2a1	O2a1	O2a1	O2a1	O2a1a	O2a1a
O-SRY465	20	VII	1U	35	Eu16	H5	I	O2b*	O2b	O2b	O2b	O2b	O2b	O2b	O2b	O2b	O2b	O2b
O-47z	5	VII	1U	26	Eu16	H5	I	O2b1	O2b1a	O2b1	O2b1	O2b1a	O2b1a	O2b1	O2b1	O2b1	O2b1	O2b1
O-M122	26	VII	1U	29	Eu16	H6	L	O3*	O3	O3	O3	O3	O3	O3	O3	O3	O3	O3
O-M121	26	VII	1U	29	Eu16	H6	L	O3a	O3a	O3a1	O3a1	O3a1	O3a1	O3a1	O3a1	O3a1	O3a1a	O3a1a
O-M164	26	VII	1U	29	Eu16	H6	L	O3b	O3b	O3a2	O3a2	O3a2	O3a2	O3a2	O3a2	O3a2	O3a1b	O3a1b
O-M159	13	VII	1U	31	Eu16	H6	L	O3c	O3c	O3a3a	O3a3a	O3a3	O3a3	O3a3a	O3a3a	O3a3a	O3a3a	O3a3a
O-M7	26	VII	1U	29	Eu16	H7	L	O3d*	O3c	O3a3b	O3a3b	O3a4	O3a4	O3a3b	O3a3b	O3a3b	O3a2b	O3a2b
O-M113	26	VII	1U	29	Eu16	H7	L	O3d1	O3c1	O3a3b1	O3a3b1	-	O3a4a	O3a3b1	O3a3b1	O3a3b1	O3a2b1	O3a2b1
O-M134	26	VII	1U	30	Eu16	H8	L	O3e*	O3d	O3a3c	O3a3c	O3a5	O3a5	O3a3c	O3a3c	O3a3c	O3a2c1	O3a2c1
O-M117	26	VII	1U	30	Eu16	H8	L	O3e1*	O3d1	O3a3c1	O3a3c1	O3a5a	O3a5a	O3a3c1	O3a3c1	O3a3c1	O3a2c1a	O3a2c1a
O-M162	26	VII	1U	30	Eu16	H8	L	O3e1a	O3d1a	O3a3c1a	O3a3c1a	O3a5a1	O3a5a1	O3a3c1a	O3a3c1a	O3a3c1a	O3a2c1a1	O3a2c1a1

Original Research Publications

The following research teams per their publications were represented in the creation of the YCC Tree.

α Jobling and Tyler-Smith 2000 and Kaladjieva 2001
β Underhill 2000
γ Hammer 2001
δ Karafet 2001
ε Semino 2000
ζ Su 1999
η Capelli 2001

Phylogenetic Trees

This phylogenetic tree of haplogroup O subclades is based on the YCC 2008 tree (Karafet 2008) and subsequent published research.

O-P31 (P31, M268)
- O-K18
  - O-CTS4040 Mainly found in Han Chinese and occasionally found in Chinese (Dai), Manchu, Thailand (Phuan, Tai Yuan, Thai), Vietnam, the Philippines, West Kalimantan, Qatar, Hazara, Japan, Korea
    - O-MF56251 Found in Thailand (Central Thai, Tai Yuan, Phuan), Vietnam (Nùng, Tày), and southern China (Yao, Zhuang, and Han in Guangxi, Guangdong, Hong Kong, Sichuan, and Jiangsu)
    - O-Page59
      - O-CTS9996 Found in approximately 0.37% of all males in present-day China
      - O-Z24309
        O-F417
        O-CTS1451 Found in approximately 0.15% of all males in present-day China
        
        O-F840 Found in approximately 0.40% of all males in present-day China
        
        O-F4070 Found in approximately 2.20% of all males in present-day China
        O-MF106398
        
        O-F993
        O-MF107014
        
        O-MF61620
        
        O-F1759
        O-MF106881
        
        O-CTS4936
        O-F3346
        O-MF17816
        
        O-F2064
        O-F3314
        O-Z24380
        O-F3323 Found in approximately 1.99% of all males in present-day China, with especially dense distribution in Taiwan, Shandong, Liaoning, Heilongjiang, Jilin, and Jiangsu^[7]
  - O-PK4
    - O-F838 Found in Han Chinese^[4]^[8] and in a specimen from medieval South Kazakhstan ascribed to the Turks;^[9] probably also present in Thailand (Kaleun, Phuan, Thai),^[10] Hanoi,^[8] Ambon,^[8] Ayeyarwady Region,^[11] and Xinlong County^[12]
    - O-M95 (M95)
      - O-CTS350
        O-CTS350* Found in Japan
        
        O-CTS10007 Found in Han Chinese in Hunan
      - O-M1310
        O-F1252
        O-SK1630/F5504 China (Shaanxi),^[3] Russia (Ryazan Oblast)^[3]
        O-SK1636
        
        O-F2924
        O-CTS5854 Found in China (Han, Dai), Laos, Thailand, Japan, and the Philippines
        
        O-M88 (M88, M111) Found in Vietnam, Laos, Thailand, Cambodia, Myanmar, China (Dai, Buyi, Zhuang, Li, Shui, She, Miao, Yao, De'ang, Bulang, Qiang, Tujia, Lisu, Achang, Nu, Lahu, Jinuo, Hani, Yi, Bai, Han), Taiwan (Han, Bunun, Yami), Java, Borneo, Malaysia, the Philippines
        
        O-F789/M1283 Found in China, Vietnam, Cambodia, Singapore (Malay),^[13] Indonesia, Laos, Thailand, Myanmar, Bhutan,^[14] Bangladesh, and India
- O-P49 (M176, SRY465, P49, 022454) Japan,^[15] South Korea,^[15] China,^[15] Mongolia,^[15] Vietnam,^[15] Micronesia^[15]
  - O-P49*(xPage92) Japan, South Korea
  - O-Page92
    - O-Page90 Japan (Hiroshima), Jilin^[3]
    - O-CTS9259
      - O-CTS562 Beijing (Han),^[3] South Korea,^[16] Japan (Fukushima)^[3]
      - O-K10/F1204
        O-K10* Japan (Tokyo^[3])
        
        O-CTS10687 Japan,^[15] Mongolia^[15]
        
        O-K7/CTS11723/47z Found in approximately 24% of Japanese males and with lower frequency in Korea and China
        O-BY130355 Sichuan^[3]
        
        O-K2/CTS713
        O-K2* Japan (Tokyo,^[3] Aomori^[3]), South Korea^[3]
        
        O-CTS203 Japan (Tokyo,^[3] Miyagi^[3]), Henan^[3]
        
        O-K14
        O-K14* Shanxi^[3]
        
        O-M776 Japan (Tokyo^[3])
        
        O-Z24594
        O-Z24594* South Korea^[3]
        
        O-CTS56 Japan (Tokyo,^[3] Kumamoto^[3])
        
        O-Y178266 Japan (Tokyo^[3]), Beijing^[3]
        
        O-Z24599
        O-Z24599* Japan (Tokyo,^[3] Yamaguchi^[3])
        
        O-K473 Japan (Tokyo^[3])
        
        O-Y181118 South Korea (Busan^[3]), Hebei^[3]
        
        O-K4
        O-K3/F940 Hunan (Han), Jiangxi, Henan (Han)
        O-F940* Hunan,^[3] Jiangxi^[3]
        
        O-K481 Hunan (Han)^[3]
        
        O-L682 Found in approximately 19% of South Korean males^[17] and with lower frequency in Japan and China
        O-L682* Shanxi^[3]
        
        O-K485
        O-K485* Japan (Tokyo)^[3]
        
        O-CTS723
        O-CTS723* South Korea^[3]
        
        O-A23652
        O-A23652* Japanese^[3]
        
        O-A23653
        O-A23653* Japanese,^[3] South Korea^[3]
        
        O-A23658
        O-A23658* South Korea^[3]
        
        O-Y165475 South Korea^[3]
        
        O-Y24057
        O-Y24057* Shandong^[3]
        
        O-A12448
        O-A12448* South Korea (incl. Daegu^[3])
        
        O-PH40 Beijing (Han),^[3] Shandong,^[3] South Korea,^[3] Japan^[15]
        
        O-MF14220 South Korea^[3]
        
        O-Y26376/CTS7620 Japan,^[15] South Korea^[15]
        O-MF14346 South Korea^[3]
        
        O-Y26377
        O-Y26377* Japan (Okayama),^[3] Hezhen^[3]
        
        O-CTS1175 Japan (Kochi,^[3] Tokyo^[3])

References

^ G. David Poznik, Yali Xue, Fernando L. Mendez, et al., "Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences." Nat Genet. 2016 June ; 48(6): 593–599. doi:10.1038/ng.3559.
^ ^a ^b Monika Karmin, Rodrigo Flores, Lauri Saag, Georgi Hudjashov, Nicolas Brucato, Chelzie Crenna-Darusallam, Maximilian Larena, Phillip L Endicott, Mattias Jakobsson, J Stephen Lansing, Herawati Sudoyo, Matthew Leavesley, Mait Metspalu, François-Xavier Ricaut, and Murray P Cox, "Episodes of Diversification and Isolation in Island Southeast Asian and Near Oceanian Male Lineages," Molecular Biology and Evolution, Volume 39, Issue 3, March 2022, msac045, https://doi.org/10.1093/molbev/msac045
^ ^a ^b ^c ^d ^e ^f ^g ^h ⁱ ^j ^k ^l ^m ⁿ ^o ^p ^q ^r ^s ^t ^u ^v ^w ^x ^y ^z ^aa ^ab ^ac ^ad ^ae ^af ^ag ^ah ^ai ^aj ^ak ^al ^am ^an ^ao ^ap ^aq ^ar ^as ^at ^au ^av ^aw YFull Haplogroup YTree v5.04 at 16 May 2017
^ ^a ^b Shi Yan, Chuan-Chao Wang, Hui Li, Shi-Lin Li, Li Jin, and The Genographic Consortium, "An updated tree of Y-chromosome Haplogroup O and revised phylogenetic positions of mutations P164 and PK4." European Journal of Human Genetics (2011) 19, 1013–1015; doi:10.1038/ejhg.2011.64
^ "O-Cts4040单倍群详情".
^ "O-P49单倍群详情".
^ https://www.23mofang.com/ancestry/family/61af046e677bf50006a80818
^ ^a ^b ^c Jean A Trejaut, Estella S Poloni, Ju-Chen Yen, et al. (2014), "Taiwan Y-chromosomal DNA variation and its relationship with Island Southeast Asia." BMC Genetics 2014, 15:77. http://www.biomedcentral.com/1471-2156/15/77
^ Peter de Barros Damgaard, Nina Marchi, Simon Rasmussen, et al. (2018), "137 ancient human genomes from across the Eurasian steppes." Nature volume 557, pages 369–374 (2018). https://doi.org/10.1038/s41586-018-0094-2
^ Wibhu Kutanan, Jatupol Kampuansai, Metawee Srikummool, Andrea Brunelli, Silvia Ghirotto, Leonardo Arias, Enrico Macholdt, Alexander Hübner, Roland Schröder, and Mark Stoneking, "Contrasting Paternal and Maternal Genetic Histories of Thai and Lao Populations." Mol. Biol. Evol. Advance Access publication April 12, 2019. doi:10.1093/molbev/msz083
^ Min-Sheng Peng, Jun-Dong He, Long Fan, et al. (2013), "Retrieving Y chromosomal haplogroup trees using GWAS data." European Journal of Human Genetics (2013), 1–5. doi:10.1038/ejhg.2013.272
^ 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
^ Monika Karmin, Lauri Saag, Mário Vicente, et al., "A recent bottleneck of Y chromosome diversity coincides with a global change in culture." Genome Research 25:1–8; ISSN 1088-9051/15; www.genome.org
^ Pille Hallast, Chiara Batini, Daniel Zadik, et al. (2015), "The Y-Chromosome Tree Bursts into Leaf: 13,000 High-Confidence SNPs Covering the Majority of Known Clades." Molecular Biology and Evolution 2015 Mar;32(3):661-73. doi:10.1093/molbev/msu327
^ ^a ^b ^c ^d ^e ^f ^g ^h ⁱ ^j ^k Y-DNA Haplotree at Family Tree DNA
^ O Y-Haplogroup Project at Family Tree DNA
^ So Yeun Kwon, Hwan Young Lee, Eun Young Lee, Woo Ick Yang, and Kyoung-Jin Shin, "Confirmation of Y haplogroup tree topologies with newly suggested Y-SNPs for the C2, O2b and O3a subhaplogroups." Forensic Science International: Genetics 19 (2015) 42–46. https://dx.doi.org/10.1016/j.fsigen.2015.06.003

Footnotes

Works cited

Journals

Su, Bing; Xiao, Junhua; Underhill, Peter; Deka, Ranjan; Zhang, Weiling; Akey, Joshua; Huang, Wei; Shen, Di; et al. (1999). "Y-Chromosome Evidence for a Northward Migration of Modern Humans into Eastern Asia during the Last Ice Age". The American Journal of Human Genetics. 65 (6): 1718–24. doi:10.1086/302680. PMC 1288383. PMID 10577926.

Websites

"Y-DNA Haplogroup Descriptions". Archived from the original on 2009-03-19.

Sources for conversion tables

Capelli, Cristian; Wilson, James F.; Richards, Martin; Stumpf, Michael P.H.; et al. (February 2001). "A Predominantly Indigenous Paternal Heritage for the Austronesian-Speaking Peoples of Insular Southeast Asia and Oceania". The American Journal of Human Genetics. 68 (2): 432–443. doi:10.1086/318205. PMC 1235276. PMID 11170891.
Hammer, Michael F.; Karafet, Tatiana M.; Redd, Alan J.; Jarjanazi, Hamdi; et al. (1 July 2001). "Hierarchical Patterns of Global Human Y-Chromosome Diversity". Molecular Biology and Evolution. 18 (7): 1189–1203. doi:10.1093/oxfordjournals.molbev.a003906. PMID 11420360.
Jobling, Mark A.; Tyler-Smith, Chris (2000), "New uses for new haplotypes", Trends in Genetics, 16 (8): 356–62, doi:10.1016/S0168-9525(00)02057-6, PMID 10904265
Kaladjieva, Luba; Calafell, Francesc; Jobling, Mark A; Angelicheva, Dora; et al. (February 2001). "Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages". European Journal of Human Genetics. 9 (2): 97–104. doi:10.1038/sj.ejhg.5200597. PMID 11313742. S2CID 21432405.
Karafet, Tatiana; Xu, Liping; Du, Ruofu; Wang, William; et al. (September 2001). "Paternal Population History of East Asia: Sources, Patterns, and Microevolutionary Processes". The American Journal of Human Genetics. 69 (3): 615–628. doi:10.1086/323299. PMC 1235490. PMID 11481588.
Karafet, T. M.; Mendez, F. L.; Meilerman, M. B.; Underhill, P. A.; Zegura, S. L.; Hammer, M. F. (2008), "New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree", Genome Research, 18 (5): 830–8, doi:10.1101/gr.7172008, PMC 2336805, PMID 18385274
Semino, O.; Passarino, G; Oefner, PJ; Lin, AA; et al. (2000), "The Genetic Legacy of Paleolithic Homo sapiens sapiens in Extant Europeans: A Y Chromosome Perspective", Science, 290 (5494): 1155–9, Bibcode:2000Sci...290.1155S, doi:10.1126/science.290.5494.1155, PMID 11073453
Underhill, Peter A.; Shen, Peidong; Lin, Alice A.; Jin, Li; et al. (November 2000). "Y chromosome sequence variation and the history of human populations". Nature Genetics. 26 (3): 358–361. doi:10.1038/81685. PMID 11062480. S2CID 12893406.