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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.
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]
Distributionedit
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 3.22% 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 0.70%[6]) in Chinese males.
Phylogeneticsedit
Phylogenetic Historyedit
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.
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
^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.
^ abMonika 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
^ abShi 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
^ abcJean 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
^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
Footnotesedit
Works citededit
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. PMC1288383. PMID 10577926.
Websites
"Y-DNA Haplogroup Descriptions". Archived from the original on 2009-03-19.
Sources for conversion tablesedit
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. PMC1235276. 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. PMC1235490. 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, PMC2336805, 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.
Further readingedit
Firasat, Sadaf; Khaliq, Shagufta; Mohyuddin, Aisha; Papaioannou, Myrto; Tyler-Smith, Chris; Underhill, Peter A; Ayub, Qasim (2006). "Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan". European Journal of Human Genetics. 15 (1): 121–6. doi:10.1038/sj.ejhg.5201726. PMC2588664. PMID 17047675.
Fornarino, Simona; Pala, Maria; Battaglia, Vincenza; Maranta, Ramona; Achilli, Alessandro; Modiano, Guido; Torroni, Antonio; Semino, Ornella; Santachiara-Benerecetti, Silvana A (2009). "Mitochondrial and Y-chromosome diversity of the Tharus (Nepal): A reservoir of genetic variation". BMC Evolutionary Biology. 9 (1): 154. Bibcode:2009BMCEE...9..154F. doi:10.1186/1471-2148-9-154. PMC2720951. PMID 19573232.
Hurles, M; Sykes, B; Jobling, M; Forster, P (2005). "The Dual Origin of the Malagasy in Island Southeast Asia and East Africa: Evidence from Maternal and Paternal Lineages". The American Journal of Human Genetics. 76 (5): 894–901. doi:10.1086/430051. PMC1199379. PMID 15793703.
Karafet, Tatiana M.; Lansing, J. S.; Redd, Alan J.; Watkins, Joseph C.; Surata, S. P. K.; Arthawiguna, W. A.; Mayer, Laura; Bamshad, Michael; et al. (2005). "Balinese Y-Chromosome Perspective on the Peopling of Indonesia: Genetic Contributions from Pre-Neolithic Hunter-Gatherers, Austronesian Farmers, and Indian Traders". Human Biology. 77 (1): 93–114. doi:10.1353/hub.2005.0030. hdl:1808/13586. PMID 16114819. S2CID 7953854.
Sahoo, Sanghamitra; Kashyap, V.K. (2006). "Phylogeography of mitochondrial DNA and Y-Chromosome haplogroups reveal asymmetric gene flow in populations of Eastern India". American Journal of Physical Anthropology. 131 (1): 84–97. doi:10.1002/ajpa.20399. PMID 16485297.
Trivedi, Rajni; Sitalaximi, T.; Banerjee, Jheelam; Singh, Anamika; Sircar, P. K.; Kashyap, V. K. (2006). "Molecular insights into the origins of the Shompen, a declining population of the Nicobar archipelago". Journal of Human Genetics. 51 (3): 217–26. doi:10.1007/s10038-005-0349-2. PMID 16453062.