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
Descendants C1 F3393/Z1426 (previously CxC3)
C2 (previously C3*) M217. [1]
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. 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 Central Asia/Siberia, North America and Oceania.

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).

Origins[edit]

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.

Structure[edit]

C* (M130/Page51/RPS4Y711, M216)

  • C1 (F3393)
    • C1a (CTS11043)
      • C1a1 M8
        • C1a1a P121
          • C1a1a1 CTS6678
          • C1a1a2 Z1356
      • C1a2 (previously C6) V20
        • C1a2a V222
        • C1a2b Z29329
    • C1b F1370
      • C1b1 K281
        • C1b1a B66/Z16458
          • C1b1a1 (previously C5) M356
          • C1b1a2 B65
      • C1b2 B477/Z31885
        • C1b2a (previously C2) M38
          • C1b2a1 M208
            • C1b2a1a P33
            • C1b2a1b P54
        • C1b2b (previously C4) M347
          • C1b2b1 M210
  • C2 (previously C3) M217
    • C2a M93
    • C2b L1373, F1396
      • C2b1
        • C2b1a
          • C2b1a1
            • C2b1a1a P39
        • C2b1b (previously C3c) M48
    • C2c C-P53.1
    • C2d P62
    • C2e F2613/Z1338
      • C2e1
        • C2e1a
          • C2e1a1a M407
  • Other, untaxonimised subclades:
    • 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.[3]
    • C-P55: outside C1b2a (M38), but its relation to other branches has not yet been verified, and;[4]

(The above phylogenetic structure of haplogroup C-M130 subclades is based on the ISOGG 2015 tree, YCC 2008 tree and subsequent published research.[5] [6])

Distribution[edit]

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).[citation needed] Haplogroup C-M130 also rarely co-occurs alongside Haplogroup D, which is also common among populations of northern Eurasia. 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.

Basal paragroup C* is carried by up to 2.7% of indigenous Australian males, according to a 2015 study by Nagle et al.[7] (That is, 1.0% of the Y-chromosomes of 657 individuals, before 56% of those samples were excluded as "non-indigenous".) C-M130* is also carried by smaller proportions of males from the Indian subcontinent, Sri Lanka and South East Asia.[5] In Europe, it has also been found in males with the surname Llach originating from Garrotxa, Catalonia, Spain (but not males with the same surname from other areas).[8] C* (M130) was also identified in prehistoric remains, dating from 34,000 years BP, found in Russia and known as "Kostenki 14".[9]

C-M347 (C1b2b; previously known as C4) is the most common haplogroup amongst indigenous Australian males, was probably carried by approximately 43% of them before European settlement in Australia and it has not been found outside of that continent.[7] [10]

Haplogroup C-M217 – the most numerous and widely dispersed C lineage – which is believed to have originated in South East/Central Asia, spread from there into Northern Asia and the Americas.[5] C-M130 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.[11][12][13][14][15][16][17] 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.

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:

Phylogenetics[edit]

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]

Genetics[edit]

Y-DNA C Subclades[edit]

Y-DNA backbone tree[edit]

Evolutionary tree of human Y-chromosome DNA haplogroups [χ 1][χ 2]
"Y-chromosomal Adam"
A00 A0-T [χ 3]
A0 A1[χ 4]
A1a A1b
A1b1 BT
B CT
DE CF
D E C F
F1 F2 F3 GHIJK
G HIJK
H IJK
IJ K
I J LT [χ 5]  K2
L T NO [χ 6] K2b [χ 7]   K2c K2d K2e [χ 8]
N O K2b1 [χ 9]    P
M S [χ 10] Q R
  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. 
  2. ^ International Society of Genetic Genealogy (ISOGG; 2015), Y-DNA Haplogroup Tree 2015. (Access date: 1 February 2015.)
  3. ^ Haplogroup A0-T is also known as A0'1'2'3'4.
  4. ^ Haplogroup A1 is also known as A1'2'3'4.
  5. ^ Haplogroup LT (L298/P326) is also known as Haplogroup K1.
  6. ^ Haplogroup NO (M214) is also known as Haplogroup K2a (although the present Haplogroup K2e was also previously known as "K2a").
  7. ^ Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS.
  8. ^ Haplogroup K2e (K-M147) was previously known as "Haplogroup X" and "K2a" (but is a sibling subclade of the present K2a, also known as Haplogroup NO).
  9. ^ Haplogroup K2b1 (P397/P399) is similiar to the former Haplogroup MS, but has a broader and more complex internal structure.
  10. ^ Haplogroup S (S-M230) was previously known as Haplogroup K5.

References[edit]

  1. ^ http://www.isogg.org/tree/ISOGG_HapgrpC.html
  2. ^ a b c d 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 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. 
  4. ^ 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. 
  5. ^ a b c d e f g h ISOGG, 2015 "Y-DNA Haplogroup C and its Subclades – 2015" (15 September 2015).
  6. ^ 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. 
  7. ^ a b Nagle, N. et al., 2015, "Antiquity and diversity of aboriginal Australian Y-chromosomes", American Journal of Physical Anthropology (epub ahead of print version; abstract).
  8. ^ 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.)
  9. ^ A. Seguin-Orlando et al., 2014, "Genomic structure in Europeans dating back at least 36,200 years", Science, vol. 346, no. 6213 (28 November), pp. 1113-1118.
  10. ^ 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. 
  11. ^ a b 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. 
  12. ^ a b c 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. 
  13. ^ 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. 
  14. ^ a b c d 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. 
  15. ^ 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. 
  16. ^ 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. 
  17. ^ 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. 
  18. ^ 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. 
  19. ^ 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. 
  20. ^ 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
  21. ^ 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. 
  22. ^ 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. 
  23. ^ 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. 
  24. ^ http://dienekes.blogspot.ru/2014/01/brown-skinned-blue-eyed-y-haplogroup-c.html
  25. ^ http://biorxiv.org/content/biorxiv/early/2015/02/10/013433.full.pdf
  26. ^ 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. 
  27. ^ 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. 
  28. ^ 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. 
  29. ^ 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. 
  30. ^ 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. 
  31. ^ 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. 
  32. ^ 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. 

External links[edit]


Evolutionary tree of human Y-chromosome DNA haplogroups [χ 1][χ 2]
"Y-chromosomal Adam"
A00 A0-T [χ 3]
A0 A1[χ 4]
A1a A1b
A1b1 BT
B CT
DE CF
D E C F
F1 F2 F3 GHIJK
G HIJK
H IJK
IJ K
I J LT [χ 5]  K2
L T NO [χ 6] K2b [χ 7]   K2c K2d K2e [χ 8]
N O K2b1 [χ 9]    P
M S [χ 10] Q R
  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. 
  2. ^ International Society of Genetic Genealogy (ISOGG; 2015), Y-DNA Haplogroup Tree 2015. (Access date: 1 February 2015.)
  3. ^ Haplogroup A0-T is also known as A0'1'2'3'4.
  4. ^ Haplogroup A1 is also known as A1'2'3'4.
  5. ^ Haplogroup LT (L298/P326) is also known as Haplogroup K1.
  6. ^ Haplogroup NO (M214) is also known as Haplogroup K2a (although the present Haplogroup K2e was also previously known as "K2a").
  7. ^ Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS.
  8. ^ Haplogroup K2e (K-M147) was previously known as "Haplogroup X" and "K2a" (but is a sibling subclade of the present K2a, also known as Haplogroup NO).
  9. ^ Haplogroup K2b1 (P397/P399) is similiar to the former Haplogroup MS, but has a broader and more complex internal structure.
  10. ^ Haplogroup S (S-M230) was previously known as Haplogroup K5.