Haplogroup O-M268

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.

Haplogroup O-M268
Possible time of origin34,100 or 29,200 ybp[1]

33,181 [95% CI 36,879 <-> 24,461] ybp[2]

30,100 [95% CI 27,800 <-> 32,400] ybp[3]
Coalescence age31,108 [95% CI 34,893 <-> 22,844] ybp[2]
Possible place of originSoutheast Asia or East Asia[3]
AncestorO1 (O-F265)
DescendantsO1b1 (K18), O1b2 (P49/M176)
Defining mutationsP31, 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 frequenciesAustroasiatic-speaking peoples, Tai peoples, Hlai, Balinese, Javanese, Japanese, Ryukyuans, Koreans, Malagasy

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 3.23% 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
Main article: Conversion table for Y chromosome haplogroups

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-M17526VII1U28Eu16H9IO*OOOOOOOOOO
O-M11926VII1U32Eu16H9HO1*O1aO1aO1aO1aO1aO1aO1aO1aO1aO1a
O-M10126VII1U32Eu16H9HO1aO1a1O1a1aO1a1aO1a1O1a1O1a1aO1a1aO1a1aO1a1aO1a1a
O-M5026VII1U32Eu16H10HO1bO1a2O1a2O1a2O1a2O1a2O1a2O1a2O1a2O1a2O1a2
O-P3126VII1U33Eu16H5IO2*O2O2O2O2O2O2O2O2O2O2
O-M9526VII1U34Eu16H11GO2a*O2aO2aO2aO2aO2aO2aO2aO2aO2a1O2a1
O-M8826VII1U34Eu16H12GO2a1O2a1O2a1O2a1O2a1O2a1O2a1O2a1O2a1O2a1aO2a1a
O-SRY46520VII1U35Eu16H5IO2b*O2bO2bO2bO2bO2bO2bO2bO2bO2bO2b
O-47z5VII1U26Eu16H5IO2b1O2b1aO2b1O2b1O2b1aO2b1aO2b1O2b1O2b1O2b1O2b1
O-M12226VII1U29Eu16H6LO3*O3O3O3O3O3O3O3O3O3O3
O-M12126VII1U29Eu16H6LO3aO3aO3a1O3a1O3a1O3a1O3a1O3a1O3a1O3a1aO3a1a
O-M16426VII1U29Eu16H6LO3bO3bO3a2O3a2O3a2O3a2O3a2O3a2O3a2O3a1bO3a1b
O-M15913VII1U31Eu16H6LO3cO3cO3a3aO3a3aO3a3O3a3O3a3aO3a3aO3a3aO3a3aO3a3a
O-M726VII1U29Eu16H7LO3d*O3cO3a3bO3a3bO3a4O3a4O3a3bO3a3bO3a3bO3a2bO3a2b
O-M11326VII1U29Eu16H7LO3d1O3c1O3a3b1O3a3b1-O3a4aO3a3b1O3a3b1O3a3b1O3a2b1O3a2b1
O-M13426VII1U30Eu16H8LO3e*O3dO3a3cO3a3cO3a5O3a5O3a3cO3a3cO3a3cO3a2c1O3a2c1
O-M11726VII1U30Eu16H8LO3e1*O3d1O3a3c1O3a3c1O3a5aO3a5aO3a3c1O3a3c1O3a3c1O3a2c1aO3a2c1a
O-M16226VII1U30Eu16H8LO3e1aO3d1aO3a3c1aO3a3c1aO3a5a1O3a5a1O3a3c1aO3a3c1aO3a3c1aO3a2c1a1O3a2c1a1

Original Research Publications

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

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-PK4
        • O-F838 Found in Han Chinese[4][7] and in a specimen from medieval South Kazakhstan ascribed to the Turks;[8] probably also present in Thailand (Kaleun, Phuan, Thai),[9] Hanoi,[7] Ambon,[7] Ayeyarwady Region,[10] and Xinlong County[11]
        • 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),[12] Indonesia, Laos, Thailand, Myanmar, Bhutan,[13] Bangladesh, and India
    • O-P49 (M176, SRY465, P49, 022454) Japan,[14] South Korea,[14] China,[14] Mongolia,[14] Vietnam,[14] Micronesia[14]
      • O-P49*(xPage92) Japan, South Korea
      • O-Page92
        • O-Page90 Japan (Hiroshima), Jilin[3]
        • O-CTS9259
          • O-CTS562 Beijing (Han),[3] South Korea,[15] Japan (Fukushima)[3]
          • O-K10/F1204
            • O-K10* Japan (Tokyo[3])
            • O-CTS10687 Japan,[14] Mongolia[14]
            • 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[16] 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[14]
                      • O-MF14220 South Korea[3]
                      • O-Y26376/CTS7620 Japan,[14] South Korea[14]
                        • O-MF14346 South Korea[3]
                        • O-Y26377

See also

Genetics

Y-DNA O Subclades

Y-DNA Backbone Tree

References
  1. 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.
  2. 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
  3. YFull Haplogroup YTree v5.04 at 16 May 2017
  4. 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
  5. https://www.23mofang.com/ancestry/ytree/O-CTS4040/detail
  6. https://www.23mofang.com/ancestry/ytree/O-P49/detail
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. Y-DNA Haplotree at Family Tree DNA
  15. O Y-Haplogroup Project at Family Tree DNA
  16. 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

Works cited

Journals

Websites

Sources for conversion tables

Further reading
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