Haplogroup C-M217

Haplogroup C-M217
C2 (previously C3)[1]
Possible time of origin 11,900 ± 4,800 years before present[2]

14,920 ± 3,830 years (evolutionary mutation rate) or 4,120 ± 1,060 years (genealogical mutation rate)[3]

34,200 [95% CI 31,800 <-> 36,600] ybp[4]
Possible place of origin Probably Central Asia or East Asia
Ancestor C-M130
Descendants C-M93 (C2a); C-CTS117 (C2b); C-P53.1 (C2c); C-P62 (C2d); C-F2613/Z1338 (C2e)
Defining mutations M217, P44, PK2
Highest frequencies Oroqen 61%[5]-91%,[6] Evens 5%[7]-74%,[8] Evenks 44%[6]-71%,[2][7] Buryats 7%[9]-84%,[10] Mongolians 51%[11]-54%,[5] Kazakhs 40%[6]-60.7%,[12] Tanana 42%,[13] -41.18%[14] Hazaras 35%[11] – 40%,[15] Nivkhs 38%,[10] Koryaks 33%,[2][7] Daur 31%,[5] Yukaghir 31%,[16] Sibe 27%,[5] Manchu 26%[5]-27%,[6] Altai 22%[8]-24%,[6] Hezhe 22%,[5] Kyrgyz 20%,[11] Uzbeks 20%,[6] Hani 18%,[5] Cheyenne 16%,[13] Apache 15%,[13] Tuvans 11%[3] – 15%,[16] Ainu 12.5%[10]-25%,[8] Koreans 9%-17%,[17][6][5][18][19] Hui 11%,[5][6] Sioux 11%,[13] Nogais 14%,[20] Crimean Tatars 9%,[20] Han 0%-23.5%,[18][21] Vietnamese 4.3%-12.5%[21],7% Tabassarans[22]Abazinians[23], Japanese 2.1%[5]-6.9%[21], Tajik 3.57%,[24] 2.9%Adygei[25], Pasthun 2.04%[26]

Haplogroup C-M217, also known as C2 (and previously as C3),[1] is a Y-chromosome DNA haplogroup. It is the most frequently occurring branch of the wider Haplogroup C (M130).

The haplogroup C-M217 is now found at high frequencies among Central Asian peoples, indigenous Siberians, and some Native peoples of North America. In particular, males belonging to peoples such as the Buryats, Evens, Evenks, Itelmens,[9] Kazakhs, Koryaks,[9] Mongolians, Negidals,[9] Nivkhs,[9] and Udege[9] have high levels of M217.[6][8][27]

One particular haplotype within Haplogroup C2-M217 has received a great deal of attention, because of the possibility that it may represent direct patrilineal descent from Genghis Khan,[28] though that hypothesis is controversial. According to the recent result, C2's subgroups are divided into C2b and C2e, and in Mongolia, most belong to C2b(Genghis Khan modal), while very few are C2e. On the other hand, C2b takes minority and most are C2e in Japan and Korea and Southern East Asia. C2e is widely spread in Southern east Asia and east Asia, and it appears that those are part of Y haplogroup of Paleo-Asiatic race on the seaside, not the Y haplogroup which Mongolia wishes for.[29] Its C-M48 subclade, which has been identified as a possible marker of the Manchu Aisin Gioro and has been found in ten different ethnic minorities in northern China, is absent from many Han Chinese populations (Heilongjiang, Gansu, Guangdong, Sichuan and Xinjiang).[30][31]

Origin

Haplogroup C-M217 is believed to have originated approximately 7,100 to 16,700 years before present[2] in eastern or central Asia. Its closest phylogenetic relatives are found in the general vicinity of South Asia, East Asia, or Oceania.

The extremely broad distribution of Haplogroup C-M217 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 C-M217 predominates, makes the determination of the geographical origin of the defining M217 mutation exceedingly difficult. The presence of Haplogroup C-M217 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 C-M217 haplotypes found with high frequency among North Asian populations appear to belong to a different genealogical branch from the C-M217 haplotypes found with low frequency among East and Southeast Asians, which suggests that the marginal presence of C-M217 among modern East and Southeast Asian populations may not be due to recent admixture from Northeast or Central Asia.[32]

More precisely, haplogroup C-M217 is now divided into two primary subclades, C-F1067 and C-L1373. C-L1373 has been found often in populations from Central Asia through North Asia to the Americas, and rarely in individuals from some neighboring regions, such as Europe or East Asia. C-L1373 includes C-P39, which has been found at high frequency in samples of some indigenous North American populations, and C-M48, which is especially frequent among modern Tungusic peoples. The predominantly East Asian distributed C-F1067 subsumes a major clade, C-F2613, and a minor clade, C-CTS4660. The minor clade C-CTS4660 has been found in China (namely, a Han from Fujian and a Dai). The major clade C-F2613 has known representatives from China (Han, Dai, Hezhe,[33] Oroqen,[33] Tujia[33]), Japan, Korea, Vietnam, Bhutan, Bangladesh, Mongolia,[11] Kyrgyzstan (Dungan, Kyrgyz),[11] Afghanistan (Hazara, Tajik),[11] Pakistan (Burusho, Hazara),[11] and Chechnya and includes the populous subclades C-F845, C-CTS2657, and C-Z8440. C-M407, a notable subclade of C-CTS2657, has expanded in a post-Neolithic time frame[34] to include large percentages of modern Buryat, Soyot, and Hamnigan males in Buryatia in addition to many Kalmyks and other Mongols[3][35][11][36] and members of the Qongirat tribe in Kazakhstan[37] (but only 2 or 0.67% of a sample of 300 Korean males[19]).

Distribution

Haplogroup C-M217 is the modal haplogroup among Mongolians and most indigenous populations of the Russian Far East, such as the Northern Tungusic peoples, Koryaks, and Itelmens. The subclade C-P39 is common among males of the indigenous North American peoples whose languages belong to the Na-Dené phylum. The frequency of Haplogroup C-M217 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, Ainu, and some Turkic peoples of Central Asia although in a genetic study in 2004. Beyond this range of high-to-moderate frequency, which contains mainly the northeast quadrant of Eurasia and the northwest quadrant of North America, Haplogroup C-M217 continues to be found at low frequencies, and it has even been found as far afield as Northwest Europe, Turkey, Pakistan, Bhutan,[38] Bangladesh,[4] Nepal[39] and adjacent regions of India,[40][41][42] Vietnam, Maritime Southeast Asia, and the Wayuu people of South America.

In an early study of Japanese Y-chromosomes, haplogroup C-M217 was found relatively frequently among Ainus (2/16=12.5%[10] or 1/4=25%[8]) and among Japanese of the Kyūshū region (4/53=7.5%[8] or 8/104=7.7%[10]). However, in other samples of Japanese, the frequency of haplogroup C-M217 was found to be only about one to three percent.[10][5][8][43] In a study published in 2014, large samples of males from seven different Japanese cities were examined, and the frequency of C-M217 varied between a minimum of 5.0% (15/302 university students in Sapporo) and a maximum of 7.8% (8/102 adult males in Fukuoka), with a total of 6.1% (146/2390) of their sampled Japanese males belonging to this haplogroup; the authors noted that no marked geographical gradient was detected in the frequencies of haplogroups C-M217 or C-M8 in that study.[44] Overall, the frequency of haplogroup C-M217 in Japan appears to be about the same as the frequency of the endemic haplogroup C-M8, each haplogroup containing roughly 5% of the present-day Japanese male population.

The frequency of Haplogroup C-M217 in samples of Han from various areas has ranged from 0% (0/27 Han from Guangxi) to 23.5% (8/34 Han from Xi'an[21]), with the frequency of this haplogroup in several studies' pools of all Han samples ranging between 6.0% and 12.0%.[5][6][8][10][18][21] C-M217 also has been found in many samples of ethnic minority populations from central and southern China, such as Dong (8/27 = 29.6% from Guizhou,[18] 10/45 = 22.2% from Hunan,[18] 1/17 = 5.9% from Guangxi[18]), Bulang (3/11 = 27.3% from Yunnan[18]), Tujia (6/26 = 23.1% from Hubei,[18] 7/33 = 21.2% from Guizhou,[18] 9/49 = 18.4% from Jishou, Hunan), Hani (13/60 = 21.7% from Yunnan,[18] 6/34 = 17.6%[5]), Yi (4/32 = 12.5% Boren from Yunnan,[18] 3/24 = 12.5% Yi from Sichuan,[18] 4/61 = 6.6% Yi from Yunnan[18]), Mulao (1/11 = 9.1% from Guangxi[18]), Naxi (1/12 = 8.3% from Yunnan[18]), Miao (7/92 = 7.6% from Guizhou,[18] 2/58 = 3.4%), Shui (2/29 = 6.9% from Guizhou[18]), She (3/47 = 6.4% from Fujian,[18] 1/34 = 2.9%[5]), Wa (1/16 = 6.3% from Yunnan[18]), Dai (1/18 = 5.6% from Yunnan[18]), Gelao (1/21 = 4.8% from Guizhou[18]), ethnic Vietnamese (2/45 = 4.4% from Guangxi[18]), Yao (1/28 = 3.6% from Guangdong,[18] 1/35 = 2.9% from Liannan, Guangdong,[5] 2/113 = 1.8% from Guangxi[18]), Bai (1/34 = 2.9% from Yunnan[18]), Tibetans (4/156 = 2.6%), Buyi (2/109 = 1.8% from Guizhou[18]), and Taiwanese aborigines (1/48 = 2.1%).(Karafet 2010)(Xue 2006)(Gayden 2007)

In Vietnam, Y-DNA that belongs to haplogroup C-M217 has been found in about 7.5% of all published samples, including 12.5% (6/48) of a sample of Vietnamese from Hanoi, Vietnam,[21] 11.8% (9/76) of another sample of Kinh ("ethnic Vietnamese") from Hanoi, Vietnam, 10% (1/10) of a sample from Vietnam,[45] 8.5% (5/59) of a sample of Cham people from Binh Thuan, Vietnam, 8.3% (2/24) of another sample of Vietnamese from Hanoi,[46] 4.3% (3/70) of a sample of Vietnamese from an unspecified location in Vietnam,(Karafet 2010)(He 2012) 2.2% (1/46) of the KHV ("Kinh in Ho Chi Minh City, Vietnam") sample of the 1000 Genomes Project,[4][47] and 0% (0/27) of one study's samples of Kinh and Muong.[48]

Haplogroup C-M217 has been found less frequently in other parts of Southeast Asia and nearby areas, including Myanmar (3/72 = 4.2% Bamar and Rakhine[49]), Laos (1/25 = 4.0% Lao from Luang Prabang), Malaysia (2/18 = 11.1% Malaysia,[45] 0/8 Malaysia,[46] 0/12 Malaysian (ordinary Malay near Kuala Lumpur),[10] 0/17 Orang Asli,[50] 0/27 Malay,[50] 0/32 Malaysia[51]), Java (1/37 = 2.7%, 1/141 = 0.71%[46]), Nepal (2/77 = 2.6% general population of Kathmandu), Thailand (1/40 = 2.5% Thai, mostly sampled in Chiang Mai[21]; 13/500 = 2.6% Northern Thailand, or 11/290 = 3.8% Northern Thai people and 2/91 = 2.2% Tai Lü[52]), the Philippines (1/48 = 2.1%, 1/64 = 1.6%), and Bali (1/641 = 0.2%). (Gayden 2007)(Karafet 2010)(He 2012)

Although C-M217 is generally found with only low frequency (<5%) in Tibet and Nepal, there may be an island of relatively high frequency of this haplogroup in Meghalaya, India. The indigenous tribes of this state of Northeast India, where they comprise the majority of the local population, speak Khasian languages or Tibeto-Burman languages. A study published in 2007 found C-M217(xM93, P39, M86) Y-DNA in 8.5% (6/71) of a sample of Garos, who primarily inhabit the Garo Hills in the western half of Meghalaya, and in 7.6% (27/353) of a pool of samples of eight Khasian tribes from the eastern half of Meghalaya (6/18 = 33.3% Nongtrai from the West Khasi Hills, 10/60 = 16.7% Lyngngam from the West Khasi Hills, 2/29 = 6.9% War-Khasi from the East Khasi Hills, 3/44 = 6.8% Pnar from the Jaintia Hills, 1/19 = 5.3% War-Jaintia from the Jaintia Hills, 3/87 = 3.4% Khynriam from the East Khasi Hills, 2/64 = 3.1% Maram from the West Khasi Hills, and 0/32 Bhoi from Ri-Bhoi District).(Reddy 2007)

Subclade distribution

The subclades of Haplogroup C-M217 with their defining mutation(s), according to the 2017 ISOGG tree:

Others

P53.1 has been used in multiple studies, but at testing in the commercial labs it appears in too many parts of the Y tree, including multiple parts of haplogroup C. Listed 16 April 2016.

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
C-M21610V1F16Eu6H1CC*CCCCCCCCCC
C-M810V1F19Eu6H1CC1C1C1C1C1C1C1C1C1C1C1
C-M3810V1F16Eu6H1CC2*C2C2C2C2C2C2C2C2C2C2
C-P3310V1F18Eu6H1CC2aC2aC2a1C2a1C2aC2aC2a1C2a1C2a1removedremoved
C-P4410V1F17Eu6H1CC3*C3C3C3C3C3C3C3C3C3C3
C-M9310V1F17Eu6H1CC3aC3aC3aC3aC3aC3aC3aC3aC3aC3aC3a1
C-M20810V1F17Eu6H1CC3bC2bC2aC2aC2bC2bC2aC2aC2aC2aC2a
C-M21036V1F17Eu6H1CC3cC2cC4aC4aC4bC4bC4aC4aC4aC4aC4a

Research publications

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

See also

Genetics

Y-DNA C subclades

Y-DNA backbone tree

Phylogenetic tree of human Y-chromosome DNA haplogroups [χ 1][χ 2]
"Y-chromosomal Adam"
A00 A0-T [χ 3]
A0 A1 [χ 4]
A1a A1b
A1b1 BT
B CT
DE CF
D E C F
F1  F2  F3  GHIJK
G HIJK
IJK H
IJ K
I   J     LT [χ 5]       K2 [χ 6]
L     T    K2a [χ 7]        K2b [χ 8]     K2c     K2d K2e [χ 9]  
K-M2313 [χ 10]     K2b1 [χ 11] P [χ 12]
NO   S [χ 13]  M [χ 14]    P1     P2
N O Q R

References

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  12. ↑ Dulik MC, Osipova LP, Schurr TG (2011). "Y-chromosome variation in Altaian Kazakhs reveals a common paternal gene pool for Kazakhs and the influence of Mongolian expansions". PLoS ONE. 6 (3): e17548. doi:10.1371/journal.pone.0017548. PMC 3055870. PMID 21412412.
  13. 1 2 3 4 5 Zegura SL, Karafet TM, Zhivotovsky LA, Hammer MF (January 2004). "High-resolution SNPs and microsatellite haplotypes point to a single, recent entry of Native American Y chromosomes into the Americas". Mol. Biol. Evol. 21 (1): 164–75. doi:10.1093/molbev/msh009. PMID 14595095.
  14. ↑ Marc Haber, Daniel E. Platt, Maziar Ashrafian Bonab, Sonia. Afghanistan's Ethnic Groups Share a Y-Chromosomal Heritage Structured by Historical Events http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0034288
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  17. ↑ "47z TAT : 네이버 블로그".
  18. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 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.
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  22. ↑ Yunusbayev2006
  23. ↑ Nasidze2004a
  24. ↑ Marc Haber, Daniel E. Platt, Maziar Ashrafian Bonab, Sonia C |title=Afghanistan's Ethnic Groups Share a Y-Chromosomal Heritage Structured by Historical Events||date=Published: March 28, 2012|http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0034288]
  25. ↑ Yunusbayev2012
  26. ↑ Marc Haber, Daniel E. Platt, Maziar Ashrafian Bonab, Sonia. Afghanistan's Ethnic Groups Share a Y-Chromosomal Heritage Structured by Historical Events http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0034288
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  28. ↑ Zerjal T, Xue Y, Bertorelle G, et al. (March 2003). "The genetic legacy of the Mongols". Am. J. Hum. Genet. 72 (3): 717–21. doi:10.1086/367774. PMC 1180246. PMID 12592608. as PDF
  29. ↑ "Haplogroup C Project". sites.google.com. Retrieved 2018-03-14.
  30. ↑ Xue, Y; Zerjal, T; Bao, W; Zhu, S; Lim, SK; Shu, Q; Xu, J; Du, R; Fu, S; Li, P; Yang, H; Tyler-Smith, C (2015-09-28). "Recent Spread of a Y-Chromosomal Lineage in Northern China and Mongolia". Am. J. Hum. Genet. 77 (6): 1112–6. doi:10.1086/498583. PMC 1285168. PMID 16380921.
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  33. 1 2 3 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
  34. ↑ Yan S, Wang C-C, Zheng H-X, Wang W, Qin Z-D, et al. (2014) "Y Chromosomes of 40% Chinese Descend from Three Neolithic Super-Grandfathers." PLoS ONE 9(8): e105691. doi:10.1371/journal.pone.0105691
  35. ↑ Boris Malyarchuk, Miroslava Derenko, Galina Denisova, Sanj Khoyt, Marcin Wozniak, 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; published online 17 October 2013.
  36. ↑ V. N. Kharkov, K. V. Khamina, O. F. Medvedeva, K. V. Simonova, E. R. Eremina, and V. A. Stepanov, "Gene Pool of Buryats: Clinal Variability and Territorial Subdivision Based on Data of Y-Chromosome Markers." Russian Journal of Genetics, 2014, Vol. 50, No. 2, pp. 180–190. DOI: 10.1134/S1022795413110082.
  37. ↑ E. E. Ashirbekov, D. M. Botbaev, A. M. Belkozhaev, A. O. Abayldaev, A. S. Neupokoeva, J. E. Mukhataev, B. Alzhanuly, D. A. Sharafutdinova, D. D. Mukushkina, M. B. Rakhymgozhin, A. K. Khanseitova, S. A. Limborska, and N. A. Aytkhozhina, "Distribution of Y-Chromosome Haplogroups of the Kazakh from the South Kazakhstan, Zhambyl, and Almaty Regions." Reports of the National Academy of Sciences of the Republic of Kazakhstan, ISSN 2224-5227, Volume 6, Number 316 (2017), 85 – 95.
  38. ↑ 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 doi:10.1093/molbev/msu327 Advance Access publication December 2, 2014.
  39. ↑ 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. 2/77=2.6% C-M217 in a sample of the general population of Kathmandu.
  40. ↑ Fornarino S, Pala M, Battaglia V, et al. (2009). "Mitochondrial and Y-chromosome diversity of the Tharus (Nepal): a reservoir of genetic variation". BMC Evol. Biol. 9: 154. doi:10.1186/1471-2148-9-154. PMC 2720951. PMID 19573232. 1/26=3.8% C-M217 in a sample of Hindu Indians from the Terai.
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