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Haplogroup C3

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Possible time of origin 11,900 ± 4,800 years before present[1]
Possible place of origin
Ancestor C
Defining mutations M217, P44, PK2

<tr><th>Highest frequencies</th> <td>Oroqen 61%[2]-91%[3], Evens 5%[4]-74%[5], Evenks 44%[3]-71%[1][4], Buryats 7%[6]-84%[7], Mongolians 52%[3]-54%[2], Tanana 42%[8], Kazakhs 40%[3], Hazaras 40%[9], Nivkhs 38%[7], Koryaks 33%[1][4], Daur 31%[2], Yukaghir 31%[10], Sibe 27%[2], Manchu 26%[2]-27%[3], Altai 22%[5]-24%[3], Hezhe 22%[2], Uzbeks 20%[3], Tujia 18%[3], Hani 18%[2], Cheyenne 16%[8], Apache 15%[8], Tuvans 15%[10], Ainu 12.5%[7]-25%[5], Koreans 11%[3]-16%[2], Hui 11%[2][3], Sioux 11%[8], Han Chinese 0%-22.5%[11]</td></tr>

Haplogroup C3c
Possible time of origin 3,500 [95% CI 300–19,700] years before present[12] or 2,750 ± 1,370 years before present[1]
Possible place of origin perhaps Mongolia or the Lake Baikal region[1]
Ancestor C3
Defining mutations M48, M77, M86

<tr><th>Highest frequencies</th> <td>Kazakhs 57%[13]-63%[14], Oroqen 42%[2]-68%[5], Evenks 27%[2]-70%[10], Udegey 60%[15], Negidal 20%[15]-100%[15], Evens 5%[4]-61%[5], Itelmen 39%[15], Ulchi/Nanai 38%[15], Kalmyks 37%[16], Nivkhs 35%[15], Koryaks 33%[15], Yukaghir 23%[10], Mongolians 18%[5]-46%[13] (Uriankhai 33%, Zakhchin 30%, Khalkh 15%, Khoton 10%[12]), Tuvans 7%[13]-20%[15], Hezhe 11%[2], Kyrgyz 8%[13]-12%[14]</td></tr>

In human genetics, Haplogroup C3 (M217, P44) is a Y-chromosome DNA haplogroup mainly found in indigenous Siberians, Kazakhs and Mongolians. Haplogroup C3 is the most widespread and frequently occurring branch of the greater Haplogroup C (M130). One particular haplotype within Haplogroup C3 has received a great deal of attention for the possibility that it may represent direct patrilineal descent from Genghis Khan.

Genetic originEdit

Haplogroup C3 is believed to have originated approximately 20,000 years before present in eastern or central Asia. Its closest phylogenetic relatives are found in the general vicinity of South Asia, East Asia, or Oceania. First, Haplogroup C1 has a relictual distribution in Japan, which suggests an origin in the Jōmon people of the prehistoric Japanese Archipelago. Second, Haplogroup C2 appears to have expanded throughout East Indonesia, Melanesia, Micronesia, and Polynesia after the hybridization of Austronesian colonists, ultimately from the Asian mainland, with pre-existing Melanesians. Third, Haplogroup C4 is the predominant male lineage among the indigenous Australians. Finally, Haplogroup C5 is found at a low frequency in South Asia, Southwest Asia, and Central Asia.[17] Haplogroup C* Y-chromosomes, which do not belong to any of the five identified subclades of Haplogroup C, are found at low frequency in Central Asia, South Asia, Southeast Asia, East Asia, and Oceania.

DistributionEdit

Haplogroup C3 is the modal haplogroup among Mongolians and most indigenous populations of the Russian Far East, such as the Northern Tungusic peoples, Koryaks, Itelmens, and Nivkhs. The subclade C3b-P39 is quite common among males of the indigenous North American peoples whose languages belong to the Na-Dené phylum. The frequency of Haplogroup C3 tends to be negatively correlated with distance from Mongolia and the Russian Far East, but it still comprises more than ten percent of the total Y-chromosome diversity among the Manchus, Koreans, Ainu, and some Turkic peoples of Central Asia although in a genetic study in 2004, haplogroup C3 was more frequent among Koreans than previously thought (16.5%). Among the Kazakhs, who are a Turkic people of Kazakhstan and neighboring areas in northern Central Asia, Haplogroup C3 once again emerges as the most common haplogroup. Beyond this range of high-to-moderate frequency, which contains mainly the northeast quadrant of Eurasia and the northwest quadrant of North America, Haplogroup C3 continues to be found at low frequencies, and it has even been found as far afield as Northwest Europe, Turkey, Pakistan, Nepal[18] and adjacent regions of India,[19][20][21] Vietnam, the Malay Archipelago, and the Wayuu people of South America. Within Japan, haplogroup C3 has been found almost exclusively among Ainus (2/16 = 12.5% or 1/4 = 25%) and among Japanese of the Kyūshū region (4/53 = 7.5%).[5] The frequency of Haplogroup C3 in samples of Han Chinese from various areas has ranged from 0% (0/27 Han from Guangxi) to 22.5% (9/40 Han from Liaoning), with the frequency of this haplogroup in several studies' pools of all Han Chinese samples ranging between 6.0% and 12.0%.[2][3][5][11]

Geographical originEdit

The extremely broad distribution of Haplogroup C3 Y-chromosomes, coupled with the fact that the ancestral paragroup C* is not found among any of the modern Siberian or North American populations among whom Haplogroup C3 predominates, makes the determination of the geographical origin of the defining M217 mutation exceedingly difficult. The presence of Haplogroup C3 at a low frequency but relatively high diversity throughout East Asia and parts of Southeast Asia makes that region one likely source. In addition, the C3 haplotypes found with high frequency among North Asian populations appear to belong to a different genealogical branch from the C3 haplotypes found with low frequency among East and Southeast Asians, which suggests that the marginal presence of C3 among modern East and Southeast Asian populations may not be due to recent admixture from Northeast or Central Asia.[22]

SubgroupsEdit

The subclades of Haplogroup C3 with their defining mutation(s), according to the 2008 ISOGG tree:

Notes and referencesEdit

  1. 1,0 1,1 1,2 1,3 1,4 Tatiana M. Karafet, Ludmila P. Osipova, Marina A. Gubina et al., "High Levels of Y-Chromosome Differentiation among Native Siberian Populations and the Genetic Signature of a Boreal Hunter-Gatherer Way of Life," Human Biology, December 2002, v. 74, no. 6, pp. 761–789.
  2. 2,00 2,01 2,02 2,03 2,04 2,05 2,06 2,07 2,08 2,09 2,10 2,11 2,12 2,13 Yali Xue, Tatiana Zerjal, Weidong Bao, Suling Zhu, Qunfang Shu, Jiujin Xu, Ruofu Du, Songbin Fu, Pu Li, Matthew Hurles, Huanming Yang and Chris Tyler-Smith, "Male demography in East Asia: a north-south contrast in human population expansion times," Genetics 172: 2431–2439 (April 2006).
  3. 3,00 3,01 3,02 3,03 3,04 3,05 3,06 3,07 3,08 3,09 3,10 Karafet, Tatiana; Xu, Liping; Du, Ruofu et al.. "Paternal Population History of East Asia: Sources, Patterns, and Microevolutionary Processes". American Journal of Human Genetics 69 (615–628): 2001. 
  4. 4,0 4,1 4,2 4,3 Brigitte Pakendorf, Innokentij N. Novgorodov, Vladimir L. Osakovskij, and Mark Stoneking, "Mating Patterns Amongst Siberian Reindeer Herders: Inferences From mtDNA and Y-Chromosomal Analyses," American Journal of Physical Anthropology 133:1013–1027 (2007)
  5. 5,0 5,1 5,2 5,3 5,4 5,5 5,6 5,7 5,8 Michael F. Hammer, Tatiana M. Karafet, Hwayong Park, Keiichi Omoto, Shinji Harihara, Mark Stoneking and Satoshi Horai, "Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomes," Journal of Human Genetics, Volume 51, Number 1 / January, 2006.
  6. The Dual Origin and Siberian Affinities of Native American Y Chromosomes, Jeffrey T. Lell, Rem I. Sukernik, Yelena B. Starikovskaya, Bing Su, Li Jin, Theodore G. Schurr, Peter A. Underhill, and Douglas C. Wallace, American Journal of Human Genetics 70:192-206, 2002
  7. 7,0 7,1 7,2 7,3 Tajima, Atsushi; Hayami, Masanori; Tokunaga, Katsushi; Juji, T; Matsuo, M; Marzuki, S; Omoto, K; Horai, S (2004). "Genetic origins of the Ainu inferred from combined DNA analyses of maternal and paternal lineages". Journal of Human Genetics 49 (4): 187–193. doi:10.1007/s10038-004-0131-x. PMID 14997363. 
  8. 8,0 8,1 8,2 8,3 8,4 Stephen L. Zegura, Tatiana M. Karafet, Lev A. Zhivotovsky, and Michael F. Hammer, "High-Resolution SNPs and Microsatellite Haplotypes Point to a Single, Recent Entry of Native American Y Chromosomes into the Americas," Molecular Biology and Evolution 21(1):164–175. 2004
  9. 9,0 9,1 9,2 9,3 Sengupta S, Zhivotovsky LA, King R, et al. (February 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". Am. J. Hum. Genet. 78 (2): 202–21. doi:10.1086/499411. PMID 16400607. PMC 1380230. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)62353-2. 
  10. 10,0 10,1 10,2 10,3 10,4 Brigitte Pakendorf, Innokentij Novgorodov, Vladimir Osakovskij, Albina Danilova, Artur Protodjakonov, and Mark Stoneking, "Investigating the effects of prehistoric migrations in Siberia: genetic variation and the origins of Yakuts," Human Genetics, Volume 120, Number 3, October 2006, pp. 334-353(20).
  11. 11,0 11,1 11,2 11,3 Zhong, Hua; Shi, Hong; Xue-, XB; Qi, Bin; Jin, L; Ma, RZ; Su, B (2010). "Global distribution of Y-chromosome haplogroup C reveals the prehistoric migration routes of African exodus and early settlement in East Asia". Journal of Human Genetics 55 (7): 428–35. doi:10.1038/jhg.2010.40. PMID 20448651. 
  12. 12,0 12,1 Toru Katoh, Batmunkh Munkhbat, Kenichi Tounai et al., "Genetic features of Mongolian ethnic groups revealed by Y-chromosomal analysis," Gene (2004)
  13. 13,0 13,1 13,2 13,3 13,4 R. Spencer Wells et al., "The Eurasian Heartland: A continental perspective on Y-chromosome diversity," Proceedings of the National Academy of Sciences of the United States of America, 28 August 2001; 98(18): 10244–10249.
  14. 14,0 14,1 Zerjal, Tatiana; Wells, R. Spencer; Yuldasheva, Nadira et al.. "A Genetic Landscape Reshaped by Recent Events: Y-Chromosomal Insights into Central Asia". American Journal of Human Genetics 71 (466–482): 2002. 
  15. 15,0 15,1 15,2 15,3 15,4 15,5 15,6 15,7 15,8 15,9 Jeffrey T. Lell, Rem I. Sukernik, Yelena B. Starikovskaya, Bing Su, Li Jin, Theodore G. Schurr, Peter A. Underhill and Douglas C. Wallace, "The Dual Origin and Siberian Affinities of Native American Y Chromosomes," The American Journal of Human Genetics, Volume 70, Issue 1, 192-206, 1 January 2002.
  16. Nasidze, Ivan; Quinque, Dominique; Dupanloup, Isabelle et al.. "Genetic Evidence for the Mongolian Ancestry of Kalmyks". American Journal of Physical Anthropology 126: 2005. 
  17. Tatiana M. Karafet, Fernando L. Mendez, Monica B. Meilerman et al., "New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree," Genome Research (published online Apr 2, 2008)
  18. Tenzin Gayden, Alicia M. Cadenas, Maria Regueiro et al., "The Himalayas as a Directional Barrier to Gene Flow," American Journal of Human Genetics, Volume 80, May 2007. 2/77 = 2.6% C3-M217 in a sample of the general population of Kathmandu.
  19. Simona Fornarino, Maria Pala, Vincenza Battaglia et al., "Mitochondrial and Y-chromosome diversity of the Tharus (Nepal): a reservoir of genetic variation," BMC Evolutionary Biology 2009, 9:154. 1/26 = 3.8% C3-M217 in a sample of Hindu Indians from the Terai.
  20. B. Mohan Reddy, B. T. Langstieh, Vikrant Kumar et al., "Austro-Asiatic Tribes of Northeast India Provide Hitherto Missing Genetic Link between South and Southeast Asia," PLoS ONE, Issue 11, November 2007. Haplogroup C3-M217 in 8.5% of a sample of 71 Garos and 7.7% of a pool of eight samples of Khasians totalling 353 individuals.
  21. T. Kivisild, S. Rootsi, M. Metspalu et al., "The Genetic Heritage of the Earliest Settlers Persists Both in Indian Tribal and Caste Populations," American Journal of Human Genetics 72:313–332, 2003. C3-M217 in 1/31 = 3.2% of a sample from West Bengal.
  22. Gene Flow from the Indian Subcontinent to Australia: Evidence from the Y Chromosome, Alan J. Redd, June Roberts-Thomson et al., Current Biology, 12: 673-677 (April 2002)
  23. Ivan Nasidze, Dominique Quinque, Isabelle Dupanloup, Richard Cordaux, Lyudmila Kokshunova, and Mark Stoneking, "Genetic Evidence for the Mongolian Ancestry of Kalmyks," American Journal of Physical Anthropology 126:000–000 (2005).
  24. Peter A. Underhill, Peidong Shen, Alice A. Lin et al., "Y chromosome sequence variation and the history of human populations," Nature Genetics, Volume 26, November 2000
  25. V. N. Kharkov, V. A. Stepanov, O. F. Medvedeva, M. G. Spiridonova, N. R. Maksimova, A. N. Nogovitsina, and V. P. Puzyrev, "The origin of Yakuts: Analysis of the Y-chromosome haplotypes," Molecular Biology, Volume 42, Number 2 / April, 2008.

External linksEdit


Evolutionary tree of Human Y-chromosome DNA (Y-DNA) haplogroups (by ethnic groups · famous haplotypes)

most recent common Y-ancestor
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A BT
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B CT
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CF DE
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C F D E
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G H IJK
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IJ K
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I J L MNOPS T
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M NO P S
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N O Q R


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