Haplogroup C-M130

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Haplogroup C
Possible time of origin 53,000 years BP [1]
Possible place of origin Asia
Ancestor CF

C1 F3393/Z1426 (In old Terminology all known C other than C3)

C2 M217, P44, Z1453 (formerly known as C3) [1]
Defining mutations M130/RPS4Y711, P184, P255, P260

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 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.[2]

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. Asia, has another highly divergent lineage named haplogroup D which is related to haplogroup E , this proves (East) Asia has much genetic diversity. However, the distributions of Haplogroups C-M130 and D are entirely and utterly 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.


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.

Other subbranches of Haplogroup C-M130 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.

  • 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%. 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 C-RPS4Y711(xM8, 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.[7] 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.[8]
  • 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.[3]
  • C-RPS4Y(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.[9] 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).[10]

Subclade distribution[edit]

Haplogroup C-M8
Possible time of origin 11,650 (95% CI 8,460–18,690) years before present[8] or 10,000 [ s.e. ±3,500] years before present[2]
Possible place of origin probably the Japanese Archipelago
Ancestor C
Defining mutations M8, M105, M131, P122
Highest frequencies Tokushima 10%,[8] Okinawa 6.8% [4.4%[11]-8%[12]], Honshū 4.9%[11] (Aomori 7.7%,[8] Shizuoka 4.9%[8]), Kyūshū 0%[8]-3.8%[11]
Haplogroup C-M38
Possible time of origin 10,600 [4,500–30,300],[13] or 49,600 [42,000–61,000] years BP[14]
Possible place of origin Maritime Southeast Asia or Melanesia
Ancestor C-M130
Defining mutations M38
Highest frequencies Lani 100%,[13] Dani 92%,[13] Cook Islands 78%[15]-82%,[13] Samoa 62%[15]-72%,[16] Tahiti 64%,[16] Sumba 57%,[16] Māori 43%,[17] Tonga 34%,[15][16] East Futuna 30%,[15] Maewo 23%,[16] Moluccas 15%[13]-28%,[16] Fiji 22%,[15] Asmat 20%,[13] New Guinea coast 14%[16]-23%,[13] Flores 17%,[16] Tuvalu 17%,[15] Tolai 12.5%[13]-21%,[15] Nusa Tenggara 16%,[13] Admiralty Islands 16%,[15] West Sulawesi 12.5%[16]
Haplogroup C-M217
Possible time of origin 11,900 ± 4,800 years before present[18]
Possible place of origin Probably Central Asia or Siberia
Ancestor C
Defining mutations M217, P44, PK2
Highest frequencies Oroqen 61%[7]-91%,[19] Evens 5%[20]-74%,[8] Evenks 44%[19]-71%,[18][20] Buryats 60%[19]-84%,[11] Mongolians 52%[19]-54%,[7] Tanana 42%,[21] Kazakhs 40%,[19] Hazaras 40%,[22] Nivkhs 38%,[11] Koryaks 33%,[18][20] Daur 31%,[7] Yukaghir 31%,[23] Sibe 27%,[7] Manchu 26%[7]-27%,[19] Altai 22%[8]-24%,[19] Hezhe 22%,[7] Uzbeks 20%,[19] Tujia 18%,[19] Hani 18%,[7] Cheyenne 16%,[21] Apache 15%,[21] Tuvans 15%,[23] Ainu 12.5%[11]-25%,[8] Koreans 12%[19]-16%,[7] Hui 11%,[7][19] Sioux 11%,[21] Han Chinese 5%[19]-20%[7]

This phylogenetic tree of haplogroup C-M130 subclades is based on the YCC 2008 tree[24] and subsequent published research.

C*-M130 The Paragroup C-M130 has yet to be verified.


Phylogenetic history[edit]

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[edit]

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

Notable members[edit]

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[edit]


Y-DNA C Subclades[edit]

Y-DNA backbone tree[edit]

Evolutionary tree of human Y-chromosome DNA (Y-DNA) haplogroups
MRC Y-ancestor
A00 A0'1'2'3'4
A0 A1'2'3'4
A1 A2'3'4
I J LT(K1) K (K2)
L T MPS (K2b) X (K2a)
  1. ^ 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. PMID 24166809. 


  1. ^ http://www.isogg.org/tree/ISOGG_HapgrpC.html
  2. ^ a b c d e Zhong H, Shi H, Qi XB et al. (July 2010). "Global distribution of Y-chromosome haplogroup C-M130 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. 
  3. ^ 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. 
  4. ^ 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 PMID 19573232
  5. ^ 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. 
  6. ^ a b Abu-Amero, Khaled K; Hellani, Ali; González, 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. 
  7. ^ 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. 
  8. ^ 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. 
  9. ^ Mona, Stefano; Grunz, Katharina E.; Brauer, Silke et al. (2009). "Genetic Admixture History of Eastern Indonesia as Revealed by Y-Chromosome and Mitochondrial DNA Analysis". Mol. Biol. Evol. 26 (8): 1865–1877. doi:10.1093/molbev/msp097. PMID 19414523. 
  10. ^ Karafet Tatiana M., Hallmark Brian, Cox Murray P. et al. (2010). "Major East–West Division Underlies Y Chromosome Stratification across Indonesia". Mol. Biol. Evol. 27 (8): 1833–1844. doi:10.1093/molbev/msq063. PMID 20207712. 
  11. ^ 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. 
  12. ^ 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. 
  13. ^ 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. 
  14. ^ 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. 
  15. ^ 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. 
  16. ^ 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. 
  17. ^ 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. 
  18. ^ 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.
  19. ^ 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. 
  20. ^ 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. 
  21. ^ 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. 
  22. ^ 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. 
  23. ^ 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. 
  24. ^ 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. 
  25. ^ Scozzari R, Massaia A, D'Atanasio E, Myres NM, Perego UA et al. (2012). "Molecular Dissection of the Basal Clades in the Human Y Chromosome Phylogenetic Tree". PLoS ONE 7 (11): e49170. doi:10.1371/journal.pone.0049170. PMC 3492319. PMID 23145109. 
  26. ^ http://dienekes.blogspot.ru/2014/01/brown-skinned-blue-eyed-y-haplogroup-c.html
  27. ^ http://biorxiv.org/content/biorxiv/early/2015/02/10/013433.full.pdf
  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. 
  29. ^ 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. 
  30. ^ 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. 
  31. ^ 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. 
  32. ^ 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. 
  33. ^ 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. 
  34. ^ 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. PMID 18610830. 
  35. ^ Tumonggor, Meryanne K; Karafet, Tatiana M; Downey, Sean et al. (2014). "Isolation, contact and social behavior shaped genetic diversity in West Timor". Journal of Human Genetics 59 (9): 1–10. doi:10.1038/jhg.2014.62. 

External links[edit]

Evolutionary tree of human Y-chromosome DNA (Y-DNA) haplogroups
MRC Y-ancestor
A00 A0'1'2'3'4
A0 A1'2'3'4
A1 A2'3'4
I J LT(K1) K (K2)
L T MPS (K2b) X (K2a)
  1. ^ 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. PMID 24166809.