Haplogroup C (Y-DNA)

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Haplogroup C

C=M130-Migration.jpg
Possible time of origin 60,000 years
Possible place of origin South Asia or Middle East
Ancestor CF
Descendants C1, C2, C3, C4, C5, C6
Defining mutations M130/RPS4Y711, M216, P184, P255, P260

In human genetics, Haplogroup C is a Y-chromosome haplogroup, defined by UEPs M130/RPS4Y711, M216, 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 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]

Contents

[edit] Origins

Haplogroup C 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 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 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 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 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 and D are different, with various subtypes of Haplogroup C 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.

[edit] Distribution

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The distribution of Haplogroup C is generally limited to populations of northern Eurasia, eastern Eurasia, Oceania, and the Americas. There is a tendency for Haplogroup C 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 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 have been identified. Haplogroup C3-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 C3 are found among the populations of Mongolia and the Russian Far East, where it is generally the modal haplogroup. Haplogroup C3 is the only variety of Haplogroup C to be found among Native Americans, among whom it reaches its highest frequency in Na-Dené populations.

Other distinctive subbranches of Haplogroup C 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 C1, an ancient but at present extremely rare lineage, is specific to the Japanese and Ryukyuan populations of Japan, among whom it occurs at a frequency of about 5%. Haplogroup C2 is found among certain local populations within Indonesia, Melanesia, Micronesia, and Polynesia; among the populations of some islands of Polynesia, Haplogroup C2 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, Arabia,[4][5] and northern China.[1]

Patrilines that belong to Haplogroup C but do not belong to any of its identified subgroups 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, as well as throughout the Philippines, 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 C3, which would make it more likely that this particular Lebanese man descended from a Turco-Mongolor [Turk] invader.

Haplogroup C-RPS4Y711(xC1-M8, C3-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(xC1-M8, C2-M38, C3-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(xC1-M8, C2-M38, C3-M217, C4a-M210, C5-M356) has been found in 3.9% (3/77) of a sample of the general population of Kathmandu, Nepal.[2]

[edit] Subgroups

Haplogroup C1
Possible time of origin 11,650 (95% CI 8,460–18,690) years before present[7] or 10,000 [ s.e. ±3,500] years before present[1]
Possible place of origin probably the Japanese Archipelago
Ancestor C
Defining mutations M8, M105, M131, P122
Highest frequencies Tokushima 10%,[7] Okinawa 6.8% [4.4%[8]-8%[9]], Honshū 4.9%[8] (Aomori 7.7%,[7] Shizuoka 4.9%[7]), Kyūshū 0%[7]-3.8%[8]
Haplogroup C2
Possible time of origin 10,600 [4,500–30,300],[10] or 49,600 [42,000–61,000] years BP[11]
Possible place of origin Maritime Southeast Asia or Melanesia
Ancestor C
Defining mutations M38
Highest frequencies Lani 100%,[10] Dani 92%,[10] Cook Islands 78%[12]-82%,[10] Samoa 62%[12]-72%,[13] Tahiti 64%,[13] Sumba 57%,[13] Māori 43%,[14] Tonga 34%,[12][13] East Futuna 30%,[12] Maewo 23%,[13] Moluccas 15%[10]-28%,[13] Fiji 22%,[12] Asmat 20%,[10] New Guinea coast 14%[13]-23%,[10] Flores 17%,[13] Tuvalu 17%,[12] Tolai 12.5%[10]-21%,[12] Nusa Tenggara 16%,[10] Admiralty Islands 16%,[12] West Sulawesi 12.5%[13]
Haplogroup C3
Possible time of origin 11,900 ± 4,800 years before present[15]
Possible place of origin
Ancestor C
Defining mutations M217, P44, PK2
Highest frequencies Oroqen 61%[6]-91%,[16] Evens 5%[17]-74%,[7] Evenks 44%[16]-71%,[15][17] Buryats 60%[16]-84%,[8] Mongolians 52%[16]-54%,[6] Tanana 42%,[18] Kazakhs 40%,[16] Hazaras 40%,[19] Nivkhs 38%,[8] Koryaks 33%,[15][17] Daur 31%,[6] Yukaghir 31%,[20] Sibe 27%,[6] Manchu 26%[6]-27%,[16] Altai 22%[7]-24%,[16] Hezhe 22%,[6] Uzbeks 20%,[16] Tujia 18%,[16] Hani 18%,[6] Cheyenne 16%,[18] Apache 15%,[18] Tuvans 15%,[20] Ainu 12.5%[8]-25%,[7] Koreans 11%[16]-16%,[6] Hui 11%,[6][16] Sioux 11%,[18] Han Chinese 5%[16]-20%[6]

This phylogenetic tree of haplogroup C subclades is based on the YCC 2008 tree[21] and subsequent published research.

[edit] Famous members

One particular haplotype within Haplogroup C3 has received a great deal of attention for the possibility that it may represent direct patrilineal descent from Genghis Khan.

[edit] See also

[edit] References

  1. ^ a b c d e f Zhong H, Shi H, Qi XB, et al. (July 2010). "Global distribution of Y-chromosome haplogroup C reveals the prehistoric migration routes of African exodus and early settlement in East Asia". J. Hum. Genet. 55 (7): 428–35. doi:10.1038/jhg.2010.40. PMID 20448651. 
  2. ^ a b c Gayden Tenzin, Cadenas Alicia M., Regueiro Maria, Singh NB, Zhivotovsky LA, Underhill PA, Cavalli-Sforza LL, Herrera RJ (2007). "The Himalayas as a Directional Barrier to Gene Flow". American Journal of Human Genetics 80 (5): 884–894. doi:10.1086/516757. PMC 1852741. PMID 17436243. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1852741. 
  3. ^ a b Simona Fornarino, Maria Pala, Vincenza Battaglia et al., "Mitochondrial and Y-chromosome diversity of the Tharus (Nepal): a reservoir of genetic variation," BMC Evolutionary Biology (2009), 9:154 doi:10.1186/1471-2148-9-154
  4. ^ a b Cadenas Alicia M, Zhivotovsky Lev A, Cavalli-Sforza Luca L, Underhill PA, Herrera RJ (2008). "Y-chromosome diversity characterizes the Gulf of Oman". European Journal of Human Genetics 16 (3): 374–386. doi:10.1038/sj.ejhg.5201934. PMID 17928816. 
  5. ^ a b Abu-Amero, Khaled K; Hellani, Ali; Gonz�lez, Ana M; Larruga, Jose M; Cabrera, Vicente M; Underhill, Peter A (2009). "Saudi Arabian Y-Chromosome diversity and its relationship with nearby regions". BMC Genetics 10: 59. doi:10.1186/1471-2156-10-59. PMC 2759955. PMID 19772609. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2759955. 
  6. ^ a b c d e f g h i j k l Xue Y, Zerjal T, Bao W, et al. (April 2006). "Male demography in East Asia: a north-south contrast in human population expansion times". Genetics 172 (4): 2431–9. doi:10.1534/genetics.105.054270. PMC 1456369. PMID 16489223. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1456369. 
  7. ^ a b c d e f g h i j k Hammer MF, Karafet TM, Park H, et al. (2006). "Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomes". J. Hum. Genet. 51 (1): 47–58. doi:10.1007/s10038-005-0322-0. PMID 16328082. 
  8. ^ a b c d e f g Tajima Atsushi, Hayami Masanori, Tokunaga Katsushi, Juji T, Matsuo M, Marzuki S, Omoto K, Horai S (2004). "Genetic origins of the Ainu inferred from combined DNA analyses of maternal and paternal lineages". Journal of Human Genetics 49 (4): 187–193. doi:10.1007/s10038-004-0131-x. PMID 14997363. 
  9. ^ Nonaka I, Minaguchi K, Takezaki N (July 2007). "Y-chromosomal binary haplogroups in the Japanese population and their relationship to 16 Y-STR polymorphisms". Ann. Hum. Genet. 71 (Pt 4): 480–95. doi:10.1111/j.1469-1809.2006.00343.x. PMID 17274803. 
  10. ^ a b c d e f g h i Kayser M, Brauer S, Weiss G, et al. (February 2003). "Reduced Y-chromosome, but not mitochondrial DNA, diversity in human populations from West New Guinea". Am. J. Hum. Genet. 72 (2): 281–302. doi:10.1086/346065. PMC 379223. PMID 12532283. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)60539-4. 
  11. ^ a b Scheinfeldt, L.; Friedlaender, F; Friedlaender, J; Latham, K; Koki, G; Karafet, T; Hammer, M; Lorenz, J (2006). "Unexpected NRY Chromosome Variation in Northern Island Melanesia". Molecular Biology and Evolution 23 (8): 1628–41. doi:10.1093/molbev/msl028. PMID 16754639. 
  12. ^ a b c d e f g h Kayser M, Choi Y, van Oven M, et al. (July 2008). "The impact of the Austronesian expansion: evidence from mtDNA and Y chromosome diversity in the Admiralty Islands of Melanesia". Mol. Biol. Evol. 25 (7): 1362–74. doi:10.1093/molbev/msn078. PMID 18390477. http://mbe.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=18390477. 
  13. ^ a b c d e f g h i j Cox MP, Redd AJ, Karafet TM, et al. (October 2007). "A Polynesian motif on the Y chromosome: population structure in remote Oceania". Hum. Biol. 79 (5): 525–35. PMID 18478968. 
  14. ^ Underhill PA, Passarino G, Lin AA, et al. (April 2001). "Maori origins, Y-chromosome haplotypes and implications for human history in the Pacific". Hum. Mutat. 17 (4): 271–80. doi:10.1002/humu.23. PMID 11295824. 
  15. ^ a b c Tatiana M. Karafet, Ludmila P. Osipova, Marina A. Gubina et al., "High Levels of Y-Chromosome Differentiation among Native Siberian Populations and the Genetic Signature of a Boreal Hunter-Gatherer Way of Life," Human Biology, December 2002, v. 74, no. 6, pp. 761–789.
  16. ^ a b c d e f g h i j k l Karafet T, Xu L, Du R, et al. (September 2001). "Paternal population history of East Asia: sources, patterns, and microevolutionary processes". Am. J. Hum. Genet. 69 (3): 615–28. doi:10.1086/323299. PMC 1235490. PMID 11481588. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1235490. 
  17. ^ a b c Pakendorf B, Novgorodov IN, Osakovskij VL, Stoneking M (July 2007). "Mating patterns amongst Siberian reindeer herders: inferences from mtDNA and Y-chromosomal analyses". Am. J. Phys. Anthropol. 133 (3): 1013–27. doi:10.1002/ajpa.20590. PMID 17492671. 
  18. ^ a b c d e Zegura SL, Karafet TM, Zhivotovsky LA, Hammer MF (January 2004). "High-resolution SNPs and microsatellite haplotypes point to a single, recent entry of Native American Y chromosomes into the Americas". Mol. Biol. Evol. 21 (1): 164–75. doi:10.1093/molbev/msh009. PMID 14595095. http://mbe.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=. 
  19. ^ a b c d e Sengupta S, Zhivotovsky LA, King R, et al. (February 2006). "Polarity and temporality of high-resolution y-chromosome distributions in India identify both indigenous and exogenous expansions and reveal minor genetic influence of Central Asian pastoralists". Am. J. Hum. Genet. 78 (2): 202–21. doi:10.1086/499411. PMC 1380230. PMID 16400607. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)62353-2. 
  20. ^ a b c 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. PMID 16845541. 
  21. ^ Karafet TM, Mendez FL, Meilerman MB, Underhill PA, Zegura SL, Hammer MF (2008). "New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree". Genome Research 18 (5): 830–8. doi:10.1101/gr.7172008. PMC 2336805. PMID 18385274. http://www.genome.org/cgi/content/abstract/gr.7172008v1. 
  22. ^ a b Lell JT, Sukernik RI, Starikovskaya YB, et al. (January 2002). "The dual origin and Siberian affinities of Native American Y chromosomes". Am. J. Hum. Genet. 70 (1): 192–206. doi:10.1086/338457. PMC 384887. PMID 11731934. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)61293-2. 
  23. ^ Wells RS, Yuldasheva N, Ruzibakiev R, et al. (August 2001). "The Eurasian heartland: A continental perspective on Y-chromosome diversity". Proc. Natl. Acad. Sci. U.S.A. 98 (18): 10244–9. doi:10.1073/pnas.171305098. PMC 56946. PMID 11526236. http://www.pnas.org/cgi/pmidlookup?view=long&pmid=11526236. 
  24. ^ 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. PMID 16028228. 
  25. ^ 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. PMID 11062480. 
  26. ^ Khar'kov VN, Stepanov VA, Medvedev OF, et al. (2008). "[The origin of Yakuts: analysis of Y-chromosome haplotypes]" (in Russian). Mol. Biol. (Mosk.) 42 (2): 226–37. PMID 18610830. 
  27. ^ Hudjashov G, Kivisild T, Underhill PA, et al. (May 2007). "Revealing the prehistoric settlement of Australia by Y chromosome and mtDNA analysis". Proc. Natl. Acad. Sci. U.S.A. 104 (21): 8726–30. doi:10.1073/pnas.0702928104. PMC 1885570. PMID 17496137. http://www.pnas.org/cgi/pmidlookup?view=long&pmid=. 
  28. ^ Karafet, T. M.; Mendez, F. L.; Meilerman, M. B.; Underhill, P. A.; Zegura, S. L.; Hammer, M. F. (2008). "New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree". Genome Research 18 (5): 830–8. doi:10.1101/gr.7172008. PMC 2336805. PMID 18385274. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2336805. 

[edit] External links


Evolutionary tree of Human Y-chromosome DNA (Y-DNA) haplogroups
most recent common Y-ancestor
A
A1b A1a-T
A1a A2-T
A2 A3 BT
B CT
DE CF
D E C F
G H IJK
IJ K
I J LT K(xLT)
L T M NO P S
O N Q R

Y-DNA by populations · Famous Y-DNA haplotypes
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