Haplogroup C-M217

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Haplogroup C-M217

Distribution of Haplogroup C-M217 Y-DNA - worldwide.png

Possible time of origin 11,900 ± 4,800 years before present[1]
Possible place of origin
Ancestor C-M130
Defining mutations M217, P44, PK2
Highest frequencies 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] Kazakhs 40%[3]-60.7%,[8] Tanana 42%,[9] Hazaras 40%,[10] Nivkhs 38%,[7] Koryaks 33%,[1][4] Daur 31%,[2] Yukaghir 31%,[11] 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%,[9] Apache 15%,[9] Tuvans 15%,[11] Ainu 12.5%[7]-25%,[5] Koreans 13%[3]-16%, 18% [2] Hui 11%,[2][3] Sioux 11%,[9] Nogais 14%,[12] Crimean Tatars 9%,[12] Han Chinese 0%-23.5%,[13][14] Vietnamese 4.3%-12.5%[14]
Haplogroup C-M48
Possible time of origin 3,500 [95% CI 300–19,700] years before present[15] or 2,750 ± 1,370 years before present[1]
Possible place of origin perhaps Mongolia or the Lake Baikal region[1]
Ancestor C-M217
Defining mutations M48, M77, M86
Highest frequencies Kazakhs 57%[16]-63%,[17] Oroqen 42%[2]-68%,[5] Evenks 27%[2]-70%,[11] Udegey 60%,[6] Negidal 20%[6]-100%,[6] Evens 5%[4]-61%,[5] Itelmen 39%,[6] Ulchi/Nanai 38%,[6] Kalmyks 37%,[18] Nivkhs 35%,[6] Koryaks 33%,[6] Yukaghir 23%,[11] Mongolians 18%[5]-46%[16] (Uriankhai 33%, Zakhchin 30%, Khalkh 15%, Khoton 10%[15]), Tuvans 7%[16]-20%,[6] Hezhe 11%,[2] Kyrgyz 8%[16]-12%[17]

In human genetics, Haplogroup C-M217 is a Y-chromosome DNA haplogroup found with greatest frequency in indigenous Siberians (Buryats, Evens, Evenks, Udegeys, etc.), Kazakhs,[3] and Mongolians.[5][16] Haplogroup C-M217 is the most widespread and frequently occurring branch of the greater Haplogroup C-M130. One particular haplotype within Haplogroup C-M217 has received a great deal of attention for the possibility that it may represent direct patrilineal descent from Genghis Khan.[19] The more convincing explanation is that it was originated from one of many mongolic tribes.

Origin[edit]

Haplogroup C-M217 is believed to have originated approximately 7,100 to 16,700 years before present[1] 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.[20]

Distribution[edit]

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, Itelmens, and Nivkhs. 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%). Among the Kazakhs, who are a Turkic people of Kazakhstan and neighboring areas in northern Central Asia, Haplogroup C-M217 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 C-M217 continues to be found at low frequencies, and it has even been found as far afield as Northwest Europe, Turkey, Pakistan, Nepal[21] and adjacent regions of India,[22][23][24] 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%[7] or 1/4=25%[5]) and among Japanese of the Kyūshū region (4/53=7.5%[5] or 8/104=7.7%[7]). In other regional Japanese populations, the frequency of haplogroup C-M217 hovers around 2%.

The frequency of Haplogroup C-M217 in samples of Han Chinese from various areas has ranged from 0% (0/27 Han from Guangxi) to 23.5% (8/34 Han from Xi'an[14]), 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][7][13][14] 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,[14] 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, 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)[14]

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[edit]

The subclades of Haplogroup C-M217 with their defining mutation(s), according to the 2008 ISOGG tree:

C-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 Chinese, Vietnamese, Nivkhs, Altaians, Tuvinians, Uzbeks, Nogais, and Crimean Tatars[2][5][6][7][10][12][16][18]

C-M93 Observed sporadically in Japanese[10][25]

C-P39 Found in several indigenous peoples of North America, including some Na-Dené-, Algonquian-, or Siouan-speaking populations[9]

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

C-M77 Typical of Northern Tungusic peoples, Kazakhs, Oirats, Kalmyks, Outer Mongolians, Yukaghirs, Nivkhs, Koryaks, Itelmens, and Udegeys, with a moderate distribution among other Southern Tungusic peoples, Inner Mongolians, Buryats, Tuvinians, Yakuts, Chukchi, Kyrgyz, Uyghurs, Uzbeks, Karakalpaks, and Tajiks[6][11][26]

C-M407 Found with low frequency in Bai, Cambodian, Han Chinese, Japanese, Korean,[27] Manchu, Tujia, Uyghur, and Yakut populations[10][13]

C-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[13]

C-P62

Phylogenetics[edit]

Phylogenetic history[edit]

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-M216 10 V 1F 16 Eu6 H1 C C* C C C C C C C C C C
C-M8 10 V 1F 19 Eu6 H1 C C1 C1 C1 C1 C1 C1 C1 C1 C1 C1 C1
C-M38 10 V 1F 16 Eu6 H1 C C2* C2 C2 C2 C2 C2 C2 C2 C2 C2 C2
C-P33 10 V 1F 18 Eu6 H1 C C2a C2a C2a1 C2a1 C2a C2a C2a1 C2a1 C2a1 removed removed
C-P44 10 V 1F 17 Eu6 H1 C C3* C3 C3 C3 C3 C3 C3 C3 C3 C3 C3
C-M93 10 V 1F 17 Eu6 H1 C C3a C3a C3a C3a C3a C3a C3a C3a C3a C3a C3a1
C-M208 10 V 1F 17 Eu6 H1 C C3b C2b C2a C2a C2b C2b C2a C2a C2a C2a C2a
C-M210 36 V 1F 17 Eu6 H1 C C3c C2c C4a C4a C4b C4b C4a C4a C4a C4a C4a

Research publications[edit]

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

Phylogenetic trees[edit]

See also[edit]

Genetics[edit]

Y-DNA C subclades[edit]

Y-DNA backbone tree[edit]

Evolutionary tree of human Y-chromosome DNA (Y-DNA) haplogroups
MRC Y-ancestor
A00 A0'1'2'3'4
A0 A1'2'3'4
A1 A2'3'4
A2'3 A4=BCDEF
A2 A3 B CDEF
DE CF
D E C F
GHIJKLT
G HIJKLT
H IJKLT
IJ KLT
I J LT K
L T MPS X
MS P NO
Q R N O
  1. ^ van Oven M, Van Geystelen A, Kayser M, Decorte R, Larmuseau HD (2013). "Seeing the wood for the trees: a minimal reference phylogeny for the human Y chromosome". Human Mutation. doi:10.1002/humu.22468. PMID 24166809. 

References[edit]

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  21. ^ 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.
  22. ^ 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.
  23. ^ 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. doi:10.1371/journal.pone.0001141. PMC 2065843. PMID 17989774.  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
  24. ^ 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. doi:10.1086/346068. PMC 379225. PMID 12536373.  C-M217 in 1/31=3.2% of a sample from West Bengal.
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External links[edit]