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Haplogroup C-M130

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This article is about the human Y-DNA haplogroup. For the human mtDNA haplogroup, see Haplogroup C (mtDNA).
Haplogroup C
Possible time of origin53,000 years BP [1]
Possible place of originSouth Asia
AncestorCF
DescendantsC1 F3393/Z1426 (previously CxC3)
C2 (previously C3*) M217.[1]
Defining mutationsM130/RPS4Y711, P184, P255, P260

Haplogroup C is a major Y-chromosome haplogroup, defined by UEPs M130/RPS4Y711, P184, P255, and P260, which are all SNP mutations. It is one of two primary branches of Haplogroup CF alongside Haplogroup F. Haplogroup C is found in ancient populations on every continent except Africa and is the predominant Y-DNA haplogroup among males belonging to many peoples indigenous to East Asia, Central Asia, Siberia, North America and Oceania. The haplogroup is also found at moderate frequencies among certain indigenous populations of South Asia and Southeast Asia as well as low frequencies among some populations of Europe.

In addition to the basal paragroup C*, this haplogroup now has two major branches: C1 (F3393/Z1426; previously CxC3, i.e. old C1, old C2, old C4, old C5 and old C6) and C2 (M217; the former C3).

Origins

Estimated migration root of haplogroup C in East and South Asia.[2]
Estimated migration root of haplogroup C[3]

Haplogroup C-M130 seems to have come into existence shortly after SNP mutation M168 occurred for the first time, bringing the modern Haplogroup CT into existence, from which Haplogroup CF, and in turn Haplogroup C, derived. This was probably at least 60,000 years ago.

Although Haplogroup C-M130 attains its highest frequencies among the indigenous populations of Kazakhstan, Mongolia, the Russian Far East, Polynesia, Australia, and at moderate frequency in Korea and Manchu people, it displays its highest diversity among modern populations of India. It is therefore hypothesized that Haplogroup C-M130 either originated or underwent its longest period of evolution within India or the greater South Asian coastal region. The highest diversity is observed in Southeast Asia, and its northward expansion in East Asia started approximately 40,000 years ago.[4]

Males carrying C-M130 are believed to have migrated to the Americas some 6,000-8,000 years ago, and was carried by Na-Dené-speaking peoples into the northwest Pacific coast of North America.

Asia is also the area in which Haplogroup D-M174 is concentrated. However, D-M174 is more closely related to haplogroup E than to C-M130 and the geographical distributions of Haplogroups C-M130 and D-M174 are entirely and utterly different, with various subtypes of Haplogroup C-M130 being found at high frequency amongst indigenous Australians, Polynesians, Vietnamese, Kazakhs, Mongolians, Manchurians, Koreans, and indigenous inhabitants of the Russian Far East; and at moderate frequencies elsewhere throughout Asia and Oceania, including India, Sri Lanka and Southeast Asia. Whereas Haplogroup D is found at high frequencies only amongst Tibetans, Japanese peoples, and Andaman Islanders, and has been found neither in India nor among the aboriginal inhabitants of the Americas or Oceania.

Structure

C* (M130/Page51/RPS4Y711, M216)

  • C1 (F3393)
    • C1a (CTS11043)
      • C1a1 M8
        • C1a1a P121
          • C1a1a1 CTS9336
            • C1a1a1a CTS6678 Japan, South Korea (Seoul)
            • C1a1a1b Z1356 Japan
          • C1a1a2 Z45460 China (Liaoning)
      • C1a2 (previously C6) V20
        • C1a2a V182
          • C1a2a1 V222
          • C1a2a2 Z29329
        • C1a2b Z38888
    • C1b F1370
      • C1b1 K281
        • C1b1a B66/Z16458
          • C1b1a1 (previously C5) M356
          • C1b1a2 B65
      • C1b2 B477/Z31885
        • C1b2a (previously C2) M38
          • C1b2a1 M208
            • C1b2a1a P33
            • C1b2a1b P54
        • C1b2b (previously C4) M347
          • C1b2b1 M210
  • C2 (previously C3) M217
    • C2a M93
    • C2b L1373, F1396
      • C2b1
        • C2b1a
          • C2b1a1
            • C2b1a1a P39
          • C2b1a2 (previously C3c) M48
    • C2c C-F1067
      • C2c1 F2613/Z1338
              • C2c1a1a1 M407
  • Other, untaxonimised subclades:
    • C-P343: outside C1a1 (M8), C1b2a (M38), C1b1a1 (previously C5; M356), C1b2b (previously C4; M347), and C2 (ex-C3; M217), but its relation to other branches is not yet tested.[5]
    • C-P55: outside C1b2a (M38), but its relation to other branches has not yet been verified, and;[6]

(The above phylogenetic structure of haplogroup C-M130 subclades is based on the ISOGG 2015 tree, YCC 2008 tree and subsequent published research.[7][8])

Distribution

Projected spatial frequency distribution for haplogroup C in East Asia.[2]

The distribution of Haplogroup C-M130 is generally limited to populations of northern Asia, eastern Asia, Oceania, and the Americas. Due to the tremendous age of Haplogroup C, numerous secondary mutations have had time to accumulate, and many regionally important subbranches of Haplogroup C-M130 have been identified.

Up to 46% of Aboriginal Australian males carried either basal C* (C-M130*), C1b2b* (C-M347*) or C1b2b1 (C-M210), before contact with and significant immigration by Europeans, according to a 2015 study by Nagle et al.[9] That is, 20.0% of the Y-chromosomes of 657 modern individuals, before 56% of those samples were excluded as "non-indigenous". C-M130* was apparently carried by up to 2.7% of Aboriginal males before colonisation; 43% carried C-M347, which has not been found outside Australia.[9][10] (The other haplogroups regarded as preceding contact with Europeans among Aboriginal males subclades of K, namely basal K*, K2b1* and subclades of K2b1.)

Low levels of C-M130* are carried by males:

C* (M130) was also identified in prehistoric remains, dating from 34,000 years BP, found in Russia and known as "Kostenki 14".[12]

Haplogroup C2 (M217) – the most numerous and widely dispersed C lineage – which is believed to have originated in South East/Central Asia, spread from there into Northern Asia and the Americas.[7] C-M217 stretches longitudinally from Central Europe and Turkey, to the Wayuu people of Colombia and Venezuela, and latitudinally from the Athabaskan peoples of Alaska to Vietnam to the Malay Archipelago. Found at low concentrations in Eastern Europe, where it may be a legacy of the invasions/migrations of the Huns, Turks and/or Mongols during the Middle Ages. Found at especially high frequencies in Buryats, Daurs, Hazaras, Itelmens, Kalmyks, Koryaks, Manchus, Mongolians, Oroqens, and Sibes, with a moderate distribution among other Tungusic peoples, Koreans, Ainus, Japanese, Nivkhs, Altaians, Tuvinians, Uzbeks, Han Chinese, Tujia, Hani, and Hui.[13][14][15][16][17][18][19] The highest frequencies of Haplogroup C-M217 are found among the populations of Mongolia and Far East Russia, where it is the modal haplogroup. Haplogroup C-M217 is the only variety of Haplogroup C-M130 to be found among Native Americans, among whom it reaches its highest frequency in Na-Dené populations.

Other subclades are specific to certain populations, within a restricted geographical range; even where these other branches are found, they tend to appear as a very low-frequency, minor component of the palette of Y-chromosome diversity within those territories:

  • C-P33 (C1b2a1a): found at high frequencies among Polynesian males.[14][20]
  • C-M8 (C1a1), is now found regularly only with low frequency (approximately 5% of all samples) in Japan. It also has been found in an academic study in one individual on Jeju Island and in commercial testing in one individual who has reported an origin in Liaoning province of China and one individual who has reported an origin in Seoul.
  • C-M38 (C1b2a; previously C2), among some local populations within Indonesia, Melanesia (especially New Guinea), Micronesia, and some islands of Polynesia, C-M38 has become the modal haplogroup, probably due to severe founder effects and genetic drift.[7]
  • C-M356 (C1b1a1; previously C5) has been detected with low frequency in samples from India, Nepal,[21][22] Pakistan, Afghanistan, Arabia,[23][24] and northern China.[4][7]
  • C-V20 (C1a2; previously C6) is found at low frequencies amongst Southern Europeans.[25] The 7,000-year-old remains of a hunter-gatherer from La Braña (modern Asturias, Spain) carried it,[26] and C1a2 was also present in Hungary at around the same time.[7][27] In 2016, a 35,000-year-old remains of a hunter gatherer from the Goyet Caves (Namur, Belgium) and a 30,000-year-old remains of a hunter gatherer from Dolni Vestonice (Moravia, Czech Republic) were found with this haplogroup.[28]
  • C-B66/Z16458 (C1b1a) is found at low frequencies in South Asia, Central Asia, and Southwest Asia.[16][21][22][23][24][29]
  • C-M93 (C2a) is found sporadically in Japanese people.[16][30]
  • C-M48 (C2b1b; previously C3c) is found at high frequencies in northern Tungusic peoples, Kazakhs, Oirats, Kalmyks, Mongolians, Koreans, Japanese, Altai, Yukaghirs, Nivkhs, Koryaks, Itelmens, and Udegeys, with a moderate distribution among southern Tungusic peoples, Buryats, Tuvinians, Yakuts, Chukchi, Kyrgyz, Uyghurs, Uzbeks, Karakalpaks, and Tajiks.[17][31][32]
  • C-P53.1 (C2c) is borne by about 10% of Xinjiang Sibe males, with low frequency in Mongolia and among Evenks, Ningxia Hui, Xizang Tibetan, Xinjiang Uyghur, and Gansu Han.[4]
  • C-P343 occurs at a high frequency among males from Lembata (17.4% of 92 samples), with lower frequencies in Flores, Pantar, and Timor.[5] P343 is outside C1a1 (M8), C1b2a (M38), C2 (ex-C3; M217), C1b2b (previously C4; M347), or C1b1a1 (previously C5; M356), but its relation to other branches is not yet tested.[5]
  • C-P55 (C1b3) is found in the New Guinea Highlands.[6]
  • C-L1373/F1396 (C2b) has been identified in Central Asia.[citation needed]
  • C-P39 (C2b1a1a) is found among several indigenous peoples of North America, including some Na-Dené-, Algonquian- and Siouan-speaking populations.[7][33]
  • C-F2613/Z1338 (C2e): both Central Asia and East Asia.[7]
  • C-M407 (C2e1a1a) has been found with high frequency among Buryats, Soyots, and Khamnigans, moderate frequency among other Mongols and Kalmyks, and low frequency in Armenian, Bai, Cambodian, Han Chinese, Japanese, Kazakh, Korean, Manchu, Tujia, Uyghur, and Yakut populations.[4][16]
  • Unspecified instances of C-130, which possibly may belong to one of the above subclades, include:
    • Kayser et al. (2006) found C-M130(xM38, 390.1del, M217) in 10.3% (4/39) of a sample from the Philippines, 10.0% (6/60) of a sample from Arnhem Land, 6.5% (2/31) of a sample from Nusa Tenggara, 5.3% (3/57) of a sample from Sumatra, 3.0% (1/33) of a sample from the Papua New Guinea coast, 2.9% (1/34) of a sample from the Moluccas, 1.9% (1/53) of a sample from Java, and 0.9% (1/107) of a sample from Fiji.[34]
    • C-RPS4Y (now C-RPS4Y711) (xM38) Y-DNA is quite common among populations of the Indonesian province of East Nusa Tenggara and independent East Timor: 13/31 = 41.9% Lembata, 16/71 = 22.5% Flores, 5/43 = 11.6% Solor, 10/96 = 10.4% Adonara, 3/39 = 7.7% East Timor, 1/26 = 3.8% Alor, 1/38 = 2.6% Pantar. All C-RPS4Y(xM38) individuals except the singleton from Alor were described as Austronesian speakers.[35]
    • C-RPS4Y (now C-RPS4Y711) (xM38, M217) Y-DNA occurs, according to a study published in 2010, at rather high frequencies in most populations of central Indonesia (115/394 = 29.2% Flores, 21/92 = 22.8% Lembata, 19/86 = 22.1% Borneo, 6/54 = 11.1% Mandar, 1/9 = 11.1% Timor, but only 1/350 = 0.3% Sumba). C-RPS4Y(xM38, M217) Y-DNA generally becomes rare toward the west (2/61 = 3.3% Java, 1/32 = 3.1% Malaysia, 9/641 = 1.4% Balinese, 0/38 Batak Toba, 0/60 Nias, but 10/74 = 13.5% Mentawai) and toward the east (1/28 = 3.6% Alor, 0/30 Moluccas, 1/15 = 6.7% PNG Coast, 0/33 PNG Highland, 0/10 Nasioi, 0/44 Maewo (Vanuatu), 1/16 = 6.3% Micronesia, 0/64 Polynesia).[36]
    • C-RPS4Y711(xM8, M217) Y-DNA has been found in 17% (6/35) of a sample of Yao from Bama, Guangxi in south-central China, 4/35 = 11% of a sample of Hui and 2/70 = 3% of a pair of samples of Uyghur from northwestern China, and 3/45 = 7% of a sample of Hezhe and 1/26 = 4% of a sample of Ewenki from northeastern China.[13]
    • C-RPS4Y711(xM8, M38, M217) has been found in 48.5% (16/33) of a sample of indigenous Australians, 20% (12/60) of a sample of Yao, 6.1% (3/49) of a sample of Tujia, 5.9% (1/17) of a sample of Micronesians, 5.5% (3/55) of a sample of eastern Indonesians, 4.0% (1/25) of a sample of western Indonesians, 3.3% (3/91) of a sample of Sri Lankans, 3.1% (1/32) of a sample of Malays, 2.5% (10/405) of a sample of Indians, 2.2% (1/46) of a sample of Papua New Guineans, 1.7% (1/58) of a sample of Miao, and 1.5% (1/67) of a sample of Uyghurs.[14]
    • Zhong et al. (2010) have found C-M130(xM8, M38, M217, M347, M356, P55) Y-DNA in 9.09% (1/11) of a sample of Mulao from Guangxi, 8.20% (5/61) of a sample of Hui from Ningxia, 7.96% (9/113) of a sample of Yao from Guangxi, 7.69% (2/26) of a sample of Tujia from Hubei, 6.90% (2/29) of a sample of Shui from Guizhou, 3.28% (2/61) of a sample of Xibe from Xinjiang, 1.45% (1/69) of a sample of Zhuang from Guangxi, 0.92% (1/109) of a sample of Buyi from Guizhou, 0.87% (2/231) of a sample of Han from Guizhou, and 0.74% (1/136) of a sample of Han from Yunnan.[4] A majority of these individuals share an identical 8-loci Y-STR haplotype: DYS19=15, DYS389I=12, DYS389b=16, DYS388=13, DYS390=21, DYS391=10, DYS392=11, DYS393=12.[4]
    • Di Cristofaro et al. (2013) have found C-M130(xC2-PK2/M386, C1b1a1-M356) in 1.9% (1/53) of a sample of Pashtun from Kunduz, Afghanistan and in 1.4% (1/69) of a sample of Hazara from Bamiyan, Afghanistan.[37]
    • Wang et al. (2014) have found C-M130(xM105, M38, M217, M347, M356) in 5.6% (1/18) of a sample of Horpa Qiang from Danba County of Sichuan, China and in 2.2% (1/46) of a sample of Khams Tibetans from Xinlong County of Sichuan, China.[38] The Y-STR haplotypes of these two individuals match the modal C* haplotype from the study by Zhong et al. (2010) at every comparable locus.[38]
    • "C-M216", an SNP that is now regarded as synonymous with C-M130 – (xM8, M38, M217, M210, M356) have been found in 3.9% (3/77) of a sample of the general population of Kathmandu, Nepal.[21] Other examples of C-M216 have been reported among Mongol and Turkic peoples, including the: Jalairs, Tatars, Kazakhs, Crimean Tatars, Merkits, Jochids and Uzbeks;[citation needed]

Phylogenetics

Phylogenetic history

Main article: Conversion table for Y chromosome haplogroups

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. 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

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

Notable members

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.

A research paper (2017)published in Nature-《Genetic trail for the early migrations of Aisin Gioro, the imperial house of the Qing dynasty》confirmed that the Aisin Gioro clan belongs to haplogroup C3b1a3a2-F8951, a brother branch of C3*-Star Cluster (currently named as C3b1a3a1-F3796, once linked to Genghis Khan).

See also

Genetics

Y-DNA C Subclades

Y-DNA backbone tree

References

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