In addition to the basalparagroup 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) andC2 (M217; the former C3).
Haplogroup C-M130 likely originates from an exodus of modern humansout 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 afterSNP mutation M168 occurred for the first time, bringing the modernHaplogroup CT into existence, from whichHaplogroup CF, and in turn Haplogroup C, derived. This was probably at least 60,000 years ago.
Haplogroup C-M130 attains its highest frequencies among theindigenous populations ofKazakhstan,Mongolia, theRussian Far East,Polynesia, certain groups ofAustralia, and at moderate frequency inKorea andManchu 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 havemigrated to the Americas some 6,000-8,000 years ago, and was carried byNa-Dené-speaking peoples into the northwest Pacific coast ofNorth America.
Asia is also the area in whichHaplogroup 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 modernKazakhs andMongolians as well as in someIndigenous peoples of the Americas,Manchurians. It is also found at a medium frequency inKoreans, indigenous inhabitants of theRussian Far East, certainAboriginal Australians groups and at moderate frequencies elsewhere throughout Asia and Oceania. Carriers of Haplogroup C among the laterJōmon 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 inCentral Asia and spread from there into other parts of Eurasia and into parts of Australia. It is suggested that C-M130 was found inEastern Eurasian hunter gatherers as well as in ancient samples of East and Southeast Asia and Europe.[1]
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])
Projected spatial frequency distribution for haplogroup C in East Asia.[9]
The distribution of Haplogroup C-M130 is generally limited to populations of Siberia, parts of East Asia, Oceania, and theAmericas. 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% ofAboriginal Australian males carried eitherbasal C* (C-M130*),C1b2b* (C-M347*) or C1b2b1 (C-M210), beforecontact 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 andM-P256).[10][11]
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-M8 (C1a1), is now found regularly only with low frequency (approximately 5%; range 3.3% — 10% 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. The ancient Jōmon people had a frequency of about 30% of C1a1.
C-V20 (C1a2; previously C6) is found at low frequencies amongst Europeans.[22] The 7,000-year-old remains of a hunter-gatherer fromLa Braña (modernAsturias, Spain) carried it,[23] and C1a2 was also present inHungary at around the same time.[7][24] In 2016, a 35,000-year-old remains of a hunter gatherer from theGoyet Caves (Namur, Belgium) and a 30,000-year-old remains of a hunter gatherer fromDolni Vestonice (Vestonice16,Moravia, Czech Republic) were found with this haplogroup.[25]
C-P53.1 (C2c) is borne by about 10% of XinjiangSibe males, with low frequency in Mongolia and amongEvenks, NingxiaHui, XizangTibetan, XinjiangUyghur, and GansuHan.[2]
C-P343 occurs at a high frequency among males fromLembata (17.4% of 92 samples), with lower frequencies inFlores,Pantar, andTimor.[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]
Unspecified instances of C-M130, which possibly may belong to one of the above subclades, include:
Kayseret al. (2006) found C-M130(xM38, 390.1del, M217) in 10.3% (4/39) of a sample of ethnic minority groups from the Philippines, 10.0% (6/60) of a sample fromArnhem Land, 6.5% (2/31) of a sample fromNusa 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 theMoluccas, 1.9% (1/53) of a sample from Java, and 0.9% (1/107) of a sample fromFiji.[37]
C-RPS4Y (now C-RPS4Y711) (xM38) Y-DNA is quite common among populations of the Indonesian province ofEast Nusa Tenggara and independentEast 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 asAustronesian speakers.[38]
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 centralIndonesia (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).[39]
C-RPS4Y711(xM8, M217) Y-DNA has been found in 17% (6/35) of a sample ofYao fromBama,Guangxi in south-central China, 4/35 = 11% of a sample ofHui and 2/70 = 3% of a pair of samples ofUyghur from northwestern China, and 3/45 = 7% of a sample ofHezhe and 1/26 = 4% of a sample ofEwenki from northeastern China.[15]
C-RPS4Y711(xM8, M38, M217) has been found in 48.5% (16/33) of a sample ofindigenous Australians, 20% (12/60) of a sample ofYao, 6.1% (3/49) of a sample ofTujia, 5.9% (1/17) of a sample ofMicronesians, 5.5% (3/55) of a sample of easternIndonesians, 4.0% (1/25) of a sample of western Indonesians, 3.3% (3/91) of a sample ofSri Lankans, 3.1% (1/32) of a sample ofMalays, 2.5% (10/405) of a sample ofIndians, 2.2% (1/46) of a sample ofPapua New Guineans, 1.7% (1/58) of a sample ofMiao, and 1.5% (1/67) of a sample ofUyghurs.[16]
Zhonget 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.[2] 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.[2]
Di Cristofaroet 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.[40]
Wanget 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.[41] The Y-STR haplotypes of these two individuals match the modal C* haplotype from the study by Zhonget al. (2010) at every comparable locus.[41]
"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 ofKathmandu, Nepal.[26] Other examples of C-M216 have been reported amongMongol andTurkic peoples, including the:Jalairs,Kazakhs,Merkits,Jochids andUzbeks;[citation needed]
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.
A research paper published in 2017 - "Genetic trail for the early migrations of Aisin Gioro, the imperial house of the Qing dynasty" confirmed that theAisin Gioro clan belongs to haplogroup C3b1a3a2-F8951, a brother branch of C3*-Star Cluster (currently named as C3b1a3a1-F3796, once linked toGenghis Khan).[42]
^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.doi:10.1002/humu.22468.PMID24166809.S2CID23291764.
^K-M2313*, which as yet has no phylogenetic name, has been documented in two living individuals, who have ethnic ties to India and South East Asia. In addition, K-Y28299, which appears to be a primary branch of K-M2313, has been found in three living individuals from India. See: Poznikop. cit.;YFull YTree v5.08, 2017, "K-M2335", and;PhyloTree, 2017, "Details of the Y-SNP markers included in the minimal Y tree" (Access date of these pages: 9 December 2017)
^ Haplogroup M, as of 2017, is also known as K2b1b. (Previously the name Haplogroup M was assigned to K2b1d.)
^ Haplogroup S, as of 2017, is also known as K2b1a. (Previously the name Haplogroup S was assigned to K2b1a4.)
^"At present, most of the archaeological and genetic evidence supports that the earliest African exodus went out of Africa via the Red Sea and then rapidly migrated to mainland Southeast Asia through the Indian coastline, and eventually reached Oceania.36, 37, 38, 39 Recent Y-chromosome and mitochondrial DNA analysis in Australia and New Guinea has shown that Hg C is likely one of the earliest Out-of-Africa founder types,12 which was also proposed in another study,6 and that mitochondrial DNA lineages consisting of the founder types (M and N) are dated to approximately 50–70 KYA.12" ... "We propose that Hg C was derived from the African exodus and gradually colonized South Asia, Southeast Asia, Oceania and East Asia by a single Paleolithic migration from Africa to Asia and Oceania, which occurred more than 40 KYA."
^abNagle, N.; et al. (2015). "Antiquity and diversity of aboriginal Australian Y-chromosomes".American Journal of Physical Anthropology.159 (3):367–81.doi:10.1002/ajpa.22886.PMID26515539.S2CID2225529.
^Cognoms Catalans, n.d.,Resultat (15 September 2015). (The Cognoms Catalans project, which researches "genetic surnames" in Catalonia, Valencia and the Balearic Islands, is based at Universitat Pompeu Fabra, Barcelona.)
^Fu, Q.; Posth, C.; Hajdinjak, M.; Petr, M.; Mallick, S.; Fernandes, D.; Furtwängler, A.; Haak, W.; Meyer, M.; Mittnik, A.; Nickel, B.; Peltzer, A.; Rohland, N.; Slon, V.; Talamo, S.; Lazaridis, I.; Lipson, M.; Mathieson, I.; Schiffels, S.; Skoglund, P.; Derevianko, A. P.; Drozdov, N.; Slavinsky, V.; Tsybankov, A.; Cremonesi, R. G.; Mallegni, F.; Gély, B.; Vacca, E.; González Morales, M. R.; et al. (2016)."The genetic history of Ice Age Europe".Nature.534 (7606):200–205.Bibcode:2016Natur.534..200F.doi:10.1038/nature17993.PMC4943878.PMID27135931.
^Nasidze I, Quinque D, Dupanloup I, Cordaux R, Kokshunova L, Stoneking M (December 2005). "Genetic evidence for the Mongolian ancestry of Kalmyks".Am. J. Phys. Anthropol.128 (4):846–54.doi:10.1002/ajpa.20159.PMID16028228.S2CID27115596.
^Underhill PA, Shen P, Lin AA, et al. (November 2000). "Y chromosome sequence variation and the history of human populations".Nat. Genet.26 (3):358–61.doi:10.1038/81685.PMID11062480.S2CID12893406.
^Pakendorf B, Novgorodov IN, Osakovskij VL, Danilova AP, Protod'jakonov AP, Stoneking M (October 2006). "Investigating the effects of prehistoric migrations in Siberia: genetic variation and the origins of Yakuts".Hum. Genet.120 (3):334–53.doi:10.1007/s00439-006-0213-2.PMID16845541.S2CID31651899.
^Khar'kov VN, Stepanov VA, Medvedev OF, et al. (2008). "[The origin of Yakuts: analysis of Y-chromosome haplotypes]".Mol. Biol. (Mosk.) (in Russian).42 (2):226–37.PMID18610830.
^abcBoris Malyarchuk, Miroslava Derenko, Galina Denisova,et al., "Phylogeography of the Y-chromosome haplogroup C in northern Eurasia."Annals of Human Genetics (2010) 74,539–546. doi: 10.1111/j.1469-1809.2010.00601.x.
^Manfred Kayser, Silke Brauer, Richard Cordaux,et al. (2006), "Melanesian and Asian Origins of Polynesians: mtDNA and Y Chromosome Gradients Across the Pacific."Mol. Biol. Evol. 23(11):2234–2244. doi:10.1093/molbev/msl093
^abWang C-C, Wang L-X, Shrestha R, Zhang M, Huang X-Y,et al. (2014), "Genetic Structure of Qiangic Populations Residing in the Western Sichuan Corridor."PLoS ONE 9(8): e103772. doi:10.1371/journal.pone.0103772
^Wei, Lan-Hai; Yan, Shi; Yu, Ge; Huang, Yun-Zhi; Yao, Da-Li; Li, Shi-Lin; Jin, Li; Li, Hui (2017). "Genetic trail for the early migrations of Aisin Gioro, the imperial house of the Qing dynasty".J Hum Genet.62 (Mar 62(3)):407–411.doi:10.1038/jhg.2016.142.PMID27853133.S2CID7685248.
Underhill, Peter A.; Shen, Peidong; Lin, Alice A.; Jin, Li; et al. (November 2000). "Y chromosome sequence variation and the history of human populations".Nature Genetics.26 (3):358–361.doi:10.1038/81685.PMID11062480.S2CID12893406.
^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.doi:10.1002/humu.22468.PMID24166809.S2CID23291764.
^K-M2313*, which as yet has no phylogenetic name, has been documented in two living individuals, who have ethnic ties to India and South East Asia. In addition, K-Y28299, which appears to be a primary branch of K-M2313, has been found in three living individuals from India. See: Poznikop. cit.;YFull YTree v5.08, 2017, "K-M2335", and;PhyloTree, 2017, "Details of the Y-SNP markers included in the minimal Y tree" (Access date of these pages: 9 December 2017)
^ Haplogroup M, as of 2017, is also known as K2b1b. (Previously the name Haplogroup M was assigned to K2b1d.)
^ Haplogroup S, as of 2017, is also known as K2b1a. (Previously the name Haplogroup S was assigned to K2b1a4.)
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