Haplogroup C | |
---|---|
Possible time of origin | 53,000 years BP |
Possible place of origin | Southwest Asia, via out-of-Africa migrations [1] [2] [3] |
Ancestor | CF |
Descendants | C1 F3393/Z1426 (previously CxC3) C2 (previously C3*) M217 [4] |
Defining mutations | M130/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 Australia as well as a some populations in Europe, the Levant, and later Japan. [1]
The haplogroup is also found with moderate to low frequency among many present-day populations of Southeast Asia, South Asia, and Southwest Asia.
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).
Haplogroup C-M130 likely originates from an exodus of modern humans out of Africa, which spread east from Southwest Asia and gradually colonized South Asia, East Asia and Oceania. Research is divided as to how this migration took place; most studies support a Northern Route through Siberia while others support a Southern Route hypothesis, in which the carriers of haplogroup C migrated along the coasts of India and Southeast Asia to get to China. [2]
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.
Haplogroup C-M130 attains its highest frequencies among the indigenous populations of Kazakhstan, Mongolia, the Russian Far East, Polynesia, certain groups of Australia, and at moderate frequency in Korea and Manchu people. It is therefore hypothesized that Haplogroup C-M130 either originated or underwent its longest period of evolution in the greater Central Asian region or in Southeast Asian regions. Its expansion in East Asia is suggested to have started approximately 40,000 years ago. [2]
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 modern Kazakhs and Mongolians as well as in some Indigenous peoples of the Americas, Manchurians. It is also found at a medium frequency in Koreans, indigenous inhabitants of the Russian Far East, certain Aboriginal Australians groups and at moderate frequencies elsewhere throughout Asia and Oceania. Carriers of Haplogroup C among the later Jōmon people of Japan and certain Paleolithic and Neolithic Europeans carried C1a, C1b, and C1a2. 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. [1]
According to Sakitani et al., haplogroup C-M130 originated in Central Asia and spread from there into other parts of Eurasia and into parts of Australia. It is suggested that C-M130 was found in Eastern Eurasian hunter gatherers as well as in ancient samples of East and Southeast Asia and Europe. [1]
C* (M130/Page51/RPS4Y711, M216)
(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] )
The distribution of Haplogroup C-M130 is generally limited to populations of Siberia, parts of East 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. [10] 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. The other haplogroups of Aboriginal Australians is similar to Papuans and other Negritos (Haplogroup S-M230 and M-P256). [10] [11]
Low levels of C-M130* are carried by males:
Basal C1a* (CTS11043) was found in an Upper Paleolithic Europeans (Aurignacians), GoyetQ116-1 and Pestera Muerii2. [13]
C1b was identified in prehistoric remains, dating from 34,000 years BP, found in Russia and known as "Kostenki 14". [14]
Haplogroup C2 (M217) – the most numerous and widely dispersed C lineage – was once believed to have originated in Central Asia, spread from there into Northern Asia and the Americas while other theory it originated from East Asia. [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, Nivkhs, Altaians, Tuvinians, Uzbeks, Han Chinese, Tujia, Hani, and Hui. [15] [16] [17] [18] [19] [20] [21] 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. It would also make sense that this lineage may have originated in the Americas as that is the only Variety found amongst the aboriginal population.
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:
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 |
The following research teams per their publications were represented in the creation of the YCC Tree.
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 published in 2017 - "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). [42]
In human genetics, Haplogroup J-M172 or J2 is a Y-chromosome haplogroup which is a subclade (branch) of haplogroup J-M304. Haplogroup J-M172 is common in modern populations in Western Asia, Central Asia, South Asia, Southern Europe, Northwestern Iran and North Africa. It is thought that J-M172 may have originated in the Caucasus, Anatolia and/or Western Iran.
Haplogroup J-M304, also known as J, is a human Y-chromosome DNA haplogroup. It is believed to have evolved in Western Asia. The clade spread from there during the Neolithic, primarily into North Africa, the Horn of Africa, the Socotra Archipelago, the Caucasus, Europe, Anatolia, Central Asia, South Asia, and Southeast Asia.
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Haplogroup E-M96 is a human Y-chromosome DNA haplogroup. It is one of the two main branches of the older and ancestral haplogroup DE, the other main branch being haplogroup D. The E-M96 clade is divided into two main subclades: the more common E-P147, and the less common E-M75.
Haplogroup L-M20 is a human Y-DNA haplogroup, which is defined by SNPs M11, M20, M61 and M185. As a secondary descendant of haplogroup K and a primary branch of haplogroup LT, haplogroup L currently has the alternative phylogenetic name of K1a, and is a sibling of haplogroup T.
Haplogroup M, AKA M-P256 and Haplogroup K2b1b is a Y-chromosome DNA haplogroup. M-P256 is a descendant haplogroup of Haplogroup K2b1, and is believed to have first appeared between 32,000 to 47,000 years ago.
Haplogroup Q or Q-M242 is a Y-chromosome DNA haplogroup. It has one primary subclade, Haplogroup Q1 (L232/S432), which includes numerous subclades that have been sampled and identified in males among modern populations.
In human genetics, a human Y-chromosome DNA haplogroup is a haplogroup defined by specific mutations in the non-recombining portions of DNA on the male-specific Y chromosome (Y-DNA). Individuals within a haplogroup share similar numbers of short tandem repeats (STRs) and single-nucleotide polymorphisms (SNPs). The Y-chromosome accumulates approximately two mutations per generation, and Y-DNA haplogroups represent significant branches of the Y-chromosome phylogenetic tree, each characterized by hundreds or even thousands of unique mutations.
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Haplogroup C-M217, also known as C2, is a Y-chromosome DNA haplogroup. It is the most frequently occurring branch of the wider Haplogroup C (M130). It is found mostly in Central Asia, Eastern Siberia and significant frequencies in parts of East Asia and Southeast Asia including some populations in the Caucasus, Middle East, South Asia, East Europe. It is found in a much more widespread area with a low frequency of less than 2%.
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