Haplogroup C-M130

In human genetics, Haplogroup C is a Y-chromosome haplogroup, defined by UEPs M130/RPS4Y711, P184, P255, and P260, which are all SNP mutations. It is a sibling clade of Haplogroup F, within the more ancient grouping of Haplogroup CF. Unlike some other human Y-DNA clades of a similar age depth, all clades of Haplogroup CF are non-African; that is, they do not occur exclusively in Africa, unlike A and B. Haplogroup C-M130 in particular appears to be one of the Y-DNA clades which dispersed especially early towards the east; its phylogeographic distribution supports a single coastal Out-of-Africa route by way of the Indian subcontinent, which eventually led to the early settlement of modern humans in mainland Southeast Asia.^[1]

Origins

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 before present. Although Haplogroup C-M130 attains its highest frequencies among the indigenous populations of Mongolia, the Russian Far East, Polynesia, Australia, and at moderate frequency in the Korean Peninsula and among the Manchus, it displays high diversity among modern populations of India. It is 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.^[1]

It represents a great coastal migration along Southern Asia, into Southeast Asia and Australia, and up the East Asian coast. It is believed to have migrated to the Americas some 6,000-8,000 years before present, and was carried by Na-Dené-speaking peoples into the northwest Pacific coast of North America. Some have hypothesized that Haplogroups C-M130 and D were brought together to East Asia by a single population that became the first successful modern human colonizers of that region, but at present the distributions of Haplogroups C-M130 and D are different, with various subtypes of Haplogroup C-M130 being found at high frequency among the Australian aborigines, 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 and Southeast Asia; whereas Haplogroup D is found at high frequencies only among the Tibetans, Japanese peoples, and Andaman Islanders, and has been found neither in India nor among the aboriginal inhabitants of the Americas or Oceania.

Distribution

The distribution of Haplogroup C-M130 is generally limited to populations of northern Asia, eastern Asia, Oceania, and the Americas. There is a tendency for Haplogroup C-M130 to appear as the minor component of Y-chromosome diversity among a population in which the major component is accounted for by subclades of Haplogroup K (M9). Haplogroup C-M130 also rarely co-occurs with Haplogroup D among populations of northern Eurasia.

Due to the tremendous age of this macro-haplogroup, numerous mutations have had time to accumulate on the background of a Haplogroup C-M130 Y-chromosome, and several regionally important subbranches of Haplogroup C-M130 have been identified. Haplogroup C-M217 is probably the most important of these, as the geographic extent of its dispersal is without compare, stretching longitudinally from regional subgroups of the Eastern Europeans in Central Europe all the way to the Wayuu people in northern Colombia and northwest Venezuela, and latitudinally from the Evens and Koryaks of the Russian Far East and the Athabaskan peoples of Alaska and western Canada all the way to Turkey, Pakistan, Vietnam, and the Malay Archipelago. The highest frequencies of Haplogroup C-M217 are found among the populations of Mongolia and the Russian Far East, where it is generally 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 distinctive subbranches of Haplogroup C-M130 have been found to be specific to certain populations within restricted geographical territories, and 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. Haplogroup C-M8, an ancient but at present extremely rare lineage, is specific to the Japanese and Ryukyuan populations of Japan, among whom it occurs with a frequency of about 5% or less. Haplogroup C-M38 is found among certain local populations within Indonesia, Melanesia, Micronesia, and Polynesia; among the populations of some islands of Polynesia, Haplogroup C-M38 has become the modal haplogroup, probably due to severe founder effects and genetic drift. Haplogroup C4 is the most common haplogroup among indigenous Australians, and it has not been found outside of that continent. Haplogroup C5 has been detected with low frequency in samples from India, Nepal,^[2][3] Pakistan, Afghanistan, Arabia,^[4][5] and northern China.^[1]

Haplogroup C-RPS4Y711(xC-M8, C-M217) Y-DNA has been found in 6/35 = 17% 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.^[6] Haplogroup C-RPS4Y711(xM8, M38, M217) has been found in 48.5% (16/33) of a sample of Australian aboriginal people, 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.^[7] Haplogroup C-M216(xM8, M38, M217, M210, M356) has been found in 3.9% (3/77) of a sample of the general population of Kathmandu, Nepal.^[2]

In 2009, C-RPS4Y(xM38) Y-DNA was found to be 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.^[8] According to a study published in 2010, C-RPS4Y(xM38, M217) Y-DNA occurs with rather high frequency 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).^[9]

Subclade distribution

This phylogenetic tree of haplogroup C-M130 subclades is based on the YCC 2008 tree^[23] and subsequent published research.

C*-M130 The paragroup is found with low frequency in Asia and Oceania Patrilines that belong to Haplogroup C-M130 but did not belong to any of its subgroups that were identified at the time of the testing are labeled as Haplogroup C*, which are found at low frequencies along the southern coast of Asia from India to Vietnam and into the interior of Yunnan province in southwestern China, Indonesia, and Micronesia. Haplogroup C* Y-chromosomes have also been detected, but only at even lower frequencies, among populations of coastal New Guinea and island Melanesia; this suggests that, within Oceania, Haplogroup C* is associated with populations of Austronesian cultural affiliation, despite the fact that the derived haplogroup C4 is predominant among the indigenous inhabitants of Australia. Several examples of Haplogroup C*, which appear to be closely related to a scatter of modern South Asian C* haplotypes, have also been found at vanishingly low frequency among the Turkic peoples of Central Asia. Some researchers have also reported finding a Haplogroup C-RPS4Y Y-chromosome in a Lebanese man with a sample size of only 31 individuals (i.e., 1/31 or approximately 3.2%), but it is not clear whether this was really a C* chromosome, in which case descent from a South Asian immigrant might be indicated, or whether it belonged to an identified subclade of Haplogroup C, such as C-M217, which would make it more likely that this particular Lebanese man descended from a Turco-Mongol or Turk invader. 1 person in Southeast Asia was found to lack M216.

C-F3393

• C-CNS11043

• • C-M8 Found with low frequency in Japan

• • C-V20 Found with low frequency in Europeans^[24] A 7000-year old hunter-gatherer from Spain carried it.^[25]

• C-M356 Found with low frequency in South Asia, Central Asia, and Southwest Asia^{[2][3][4][5][21][26]}

• • C-P92

C-M38 Found in eastern Indonesia, Melanesia, Micronesia, and Polynesia

• C-P33 Found with high frequency in Polynesians^[7][15]

• C-P54

C-M217 -Found with high frequency in Buryats, Daurs, Hazaras, Itelmens, Kalmyks, Koryaks, Manchus, Mongolians, Oroqens, and Sibes, with a moderate distribution among other Tungusic peoples, Koreans, Ainus, Nivkhs, Altaians, Tuvinians, Uzbeks, Han Chinese, Tujia, Hani, and Hui^{[6][7][10][21][27][28][29]}

• C-M93 Found sporadically in Japanese^[21][30]

• C-MP39 Found in several indigenous peoples of North America, including some Na-Dené-, Algonquian-, or Siouan-speaking populations^[20]

• C-M48 Found with high frequency in 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^[22][27][31]

• C-M407 Found with low frequency in Bai, Cambodian, Han Chinese, Manchu, Tujia, Uyghur, and Yakut populations^[1][21]

• 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^[1]

• C-P62

C-M347 Found with high frequency in the indigenous peoples of Australia^[32] Relations to new branches not tested.

• C-M210

C-P55 Found in the highlands of New Guinea^[13]

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. 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.

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.

See also

Genetics

Y-DNA C Subclades

Y-DNA backbone tree

References

External links

• C3-M217 FTDNA
• Spread of Haplogroup C, from National Geographic