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] Hazaras 35%[11] - 40%,[14] Nivkhs 38%,[10] Koryaks 33%,[2][7] Daur 31%,[5] Yukaghir 31%,[15] Sibe 27%,[5] Manchu 26%[5]-27%,[6] Altai 22%[8]-24%,[6] Hezhe 22%,[5] Kyrgyz 20%,[11] Tujia 18%,[6] Hani 18%,[5] Cheyenne 16%,[13] Apache 15%,[13] Tuvans 11%[3] - 15%,[15] Ainu 12.5%[10]-25%,[8] Koreans 13%-21%,[6][5][16][17] Hui 11%,[5][6] Sioux 11%,[13] Nogais 14%,[18] Crimean Tatars 9%,[18] Han 0%-23.5%,[16][19] Vietnamese 4.3%-12.5%,[19] Uzbeks 3.0%.[20]

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).

M217 is 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, Kazakhs, Mongolians and Udegeys have high levels of M217.[6][8][21]

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,[22] one of his male-line ancestors, and/or other males belonging to the Borjigin clan. While Haplogroup C-M217 has been found in about 14% of Northern Han Chinese, its subclade Haplogroup C-M48, 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).[23][24]

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.[25]

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 with 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 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 Hunan or Fujian and a Dai). The major clade C-F2613 has known representatives from China (including the Dai minority), Korea, Japan, Vietnam, Bangladesh, and Pakistan, 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[26] to include large percentages of modern Buryat, Soyot, and Hamnigan males in Buryatia in addition to many Kalmyks and other Mongols[3][27][11][28] (but only 2 or 0.67% of a sample of 300 Korean males[17]).

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, Koreans, Ainu, and some Turkic peoples of Central Asia although in a genetic study in 2004, haplogroup C-M217 was more frequent among Koreans than previously thought (16.5%). It is found at lower frequencies among Turkic peoples of Central Asia except Kazakhs. On the other hand, Mongols and Tungusic peoples have the highest frequencies. It is possible that this haplogroup might have spread into Turks during the Mongol invasions of 13th century as well as previous tribal leagues in the history.[29] 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, Nepal[30] and adjacent regions of India,[31][32][33] Vietnam, Maritime Southeast Asia, and the Wayuu people of South America.

In Japan, haplogroup C-M217 has been 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]). In other regional Japanese populations, the frequency of haplogroup C-M217 hovers around 2%.

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[19]), 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][16][19] C-M217 also has been found in samples of minority populations from central and southern China, such as Tujia from Jishou, Hunan (9/49 = 18.4%), Hani (6/34 = 17.6%), Miao (2/58 = 3.4%), She (1/34 = 2.9%), Yao (1/35 = 2.9% from Liannan, Guangdong), Tibetans (4/156 = 2.6%), and Taiwanese aborigines (1/48 = 2.1%). (Karafet 2010)(Xue 2006)(Gayden 2007)

In Vietnam, Haplogroup C-M217 has been found in 12.5% (6/48) of a sample of Vietnamese from Hanoi, Vietnam,[19] 11.8% (9/76) of another sample of Kinh ("ethnic Vietnamese") from Hanoi, Vietnam, 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,[34] and in 4.3% (3/70) of a sample of Vietnamese from an unspecified location in Vietnam.(Karafet 2010)(He 2012) Haplogroup C-M217 has been found less frequently in other parts of Southeast Asia and nearby areas, including Laos (1/25 = 4.0% Lao from Luang Prabang), Java (1/37 = 2.7%), Nepal (2/77 = 2.6% general population of Kathmandu), Thailand (1/40 = 2.5% Thai, mostly sampled in Chiang Mai), the Philippines (1/48 = 2.1%, 1/64 = 1.6%), and Bali (1/641 = 0.2%). (Gayden 2007)(Karafet 2010)(He 2012)[19]

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 2008 ISOGG tree:

C2-M217 Typical of Mongolians, Kazakhs, Buryats, Daurs, Kalmyks, Hazaras, Manchus, Sibes, Oroqens, Koryaks, and Itelmens; with a moderate distribution among other Tungusic peoples, Koreans, Ainus, Han, Vietnamese, Nivkhs, Altaians, Tuvinians, Uzbeks, Nogais, and Crimean Tatars[5][8][9][10][14][18][21][35]

C2-M93 Observed sporadically in Japanese[14][36]

C2-P39 Found in several indigenous peoples of North America, including some Na-Dené-, Algonquian-, or Siouan-speaking populations[13]

C2-M48 Found frequently in Koryaks and sporadically among Evenks, Evens, and Yukaghirs

C2-M77 Typical of Northern Tungusic peoples, Kazakhs, Oirats, Kalmyks, Outer Mongolians, Yukaghirs, Nivkhs, Itelmens, and Udegeys, with a moderate distribution among other Southern Tungusic peoples, Inner Mongolians, Buryats, Tuvinians, Yakuts, Chukchi, Kyrgyz, Uyghurs, Uzbeks, Karakalpaks, and Tajiks[9][15][37]

C2-M407 Found with high frequency in some samples of Buryats, Khamnigans, and Soyots, moderate frequency in Mongols and Kalmyks, and low frequency in Bai, Cambodian, Evenk, Han, Japanese, Korean,[17] Manchu, Teleut, Tujia, Tuvinian, Uyghur, and Yakut populations[14][16][11][3]

C2-P53.1 Found in about 10% of Xinjiang Sibe and with low frequency in Inner Mongolian Mongol and Evenk, Ningxia Hui, Xizang Tibetan, Xinjiang Uyghur, and Gansu Han[16]

C2-P62

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
L     T [χ 6] K2a [χ 7] K2b [χ 8]   K2c   K2d  K2e [χ 9]  
K2a1                    K2b1 [χ 10]    P [χ 11]
NO    S [χ 12]  M [χ 13]    P1     P2
NO1    Q   R
N O
  1. Van Oven M, Van Geystelen A, Kayser M, Decorte R, Larmuseau HD (2014). "Seeing the wood for the trees: a minimal reference phylogeny for the human Y chromosome". Human Mutation. 35 (2): 187–91. PMID 24166809. doi:10.1002/humu.22468.
  2. International Society of Genetic Genealogy (ISOGG; 2015), Y-DNA Haplogroup Tree 2015. (Access date: 1 February 2015.)
  3. Haplogroup A0-T is also known as A0'1'2'3'4.
  4. Haplogroup A1 is also known as A1'2'3'4.
  5. Haplogroup LT (L298/P326) is also known as Haplogroup K1.
  6. Between 2002 and 2008, Haplogroup T (M184) was known as "Haplogroup K2" – that name has since been re-assigned to K-M526, the sibling of Haplogroup LT.
  7. Haplogroup K2a (M2308) and the new subclade K2a1 (M2313) were separated from Haplogroup NO (F549) in 2016. (This followed the publication of: Poznik GD, Xue Y, Mendez FL, et al. (2016). "Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences". Nature Genetics. 48 (6): 593–9. PMC 4884158Freely accessible. PMID 27111036. doi:10.1038/ng.3559. In the past, other haplogroups, including NO1 (M214) and K2e had also been identified with the name "K2a".
  8. Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS.
  9. Haplogroup K2e (K-M147) was previously known as "Haplogroup X" and "K2a" (but is a sibling subclade of the present K2a).
  10. Haplogroup K2b1 (P397/P399) is also known as Haplogroup MS, but has a broader and more complex internal structure.
  11. Haplogroup P (P295) is also klnown as K2b2.
  12. Haplogroup S, as of 2017, is also known as K2b1a. (Previously the name Haplogroup S was assigned to K2b1a4.)
  13. Haplogroup M, as of 2017, is also known as K2b1b. (Previously the name Haplogroup M was assigned to K2b1d.)

References

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  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. PMID 14595095. doi:10.1093/molbev/msh009.
  14. 1 2 3 4 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. PMC 1380230Freely accessible. PMID 16400607. doi:10.1086/499411.
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  16. 1 2 3 4 5 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. PMID 20448651. doi:10.1038/jhg.2010.40.
  17. 1 2 3 Park, Jin; Lee, Young; Kim, Young; -1#Myung, Hwan Na; et al. (2013). "Y-SNP miniplexes for East Asian Y-chromosomal haplogroup determination in degraded DNA". Forensic Science International: Genetics. 7: 75–81. doi:10.1016/j.fsigen.2012.06.014.
  18. 1 2 3 Template:Cte jouirnal
  19. 1 2 3 4 5 6 Kim SH, Kim KC, Shin DJ, et al. (2011). "High frequencies of Y-chromosome haplogroup O2b-SRY465 lineages in Korea: a genetic perspective on the peopling of Korea". Investig Genet. 2 (1): 10. PMC 3087676Freely accessible. PMID 21463511. doi:10.1186/2041-2223-2-10.
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  29. KZ DNA Project, FTDNA
  30. 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. PMC 1852741Freely accessible. PMID 17436243. doi:10.1086/516757. 2/77=2.6% C-M217 in a sample of the general population of Kathmandu.
  31. 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. PMC 2720951Freely accessible. PMID 19573232. doi:10.1186/1471-2148-9-154. 1/26=3.8% C-M217 in a sample of Hindu Indians from the Terai.
  32. Reddy BM, Langstieh BT, Kumar V, et al. (2007). "Austro-Asiatic tribes of Northeast India provide hitherto missing genetic link between South and Southeast Asia". PLoS ONE. 2 (11): e1141. PMC 2065843Freely accessible. PMID 17989774. doi:10.1371/journal.pone.0001141. Haplogroup C-M217 in 8.5% of a sample of 71 Garos and 7.7% of a pool of eight samples of Khasians totalling 353 individuals
  33. Kivisild T, Rootsi S, Metspalu M, et al. (February 2003). "The genetic heritage of the earliest settlers persists both in Indian tribal and caste populations". Am. J. Hum. Genet. 72 (2): 313–32. PMC 379225Freely accessible. PMID 12536373. doi:10.1086/346068. C-M217 in 1/31=3.2% of a sample from West Bengal.
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