Haplogroup C1 F3393
Possible time of originabout 49,200 years ago[1]
Possible place of originWest Asia[2][3]
AncestorHaplogroup C
DescendantsC1a CTS11043 (C1a1 M8; C1a2 (previously C6) V20)
C1b1a B66/Z16458; C1b1a1 M356 (previously C5)
C1b2 C-B477 (C1b2a M38 (previously C2); C1b2a1a P33; C1b2b (previously C4) M347)
Defining mutationsF3393

Haplogroup C1 also known as C-F3393, is a major Y-chromosome haplogroup. It is one of two primary branches of the broader Haplogroup C, the other being C2 (also known as C-M217; the former Haplogroup C3).

The basal paragroup, C1* (C-F3393*), has not been found in samples from living or dead males.

Of the two primary branches, C1b is common in parts of Oceania and Asia. The other primary branch, C1a, is extremely rare worldwide and has been found mainly amongst individuals native to Japan or Europe and among Upper Paleolithic Europeans, with single cases known from Nepal[4] and Jeju Island[5] through academic studies and from an ethnic Armenian, an ethnic Kabyle, and an ethnic Han from Linghai through commercial testing.

Distribution

Migration of Haplogroup C (Y-DNA)

Subclades of C1 (C-F3393) are the predominant Y-DNA haplogroups among some Indigenous Australian peoples, some Pacific Islander peoples, and a few of the ethnic groups of the Lesser Sunda Islands of Indonesia. Other subclades are found, at very low frequencies, in isolated locations throughout the Eurasian landmass and adjoining islands.

C1a (CTS11043)

Basal C1a* (CTS11043) was found in an Upper Paleolithic Europeans (Aurignacians), GoyetQ116-1 and Pestera Muerii2.[6]

Among the most interesting findings of recent genetic research is that living members of C1a are also rare and distributed geographically in an extremely bifurcated pattern.

C1a1 or C-M8 is now found regularly only with low frequency (approximately 5% to 6% of all samples) in Japan.[7] It also has been found sporadically among thousands of males from Korea and hundreds of thousands of males from China who have had their Y-DNA tested.[8][9][10][11][5]

C1a2 (known previously as C6) or C-V20 now appears to be found only among European, Algerian, Turks, Armenian, and Nepali males.[12][4]

C1a2 was present in the remains in Europe by the Upper Paleolithic, including the Vestonice cluster (Vestonice16) (i.e. remains found in the modern Czech Republic). It was also found in the 7,000-year-old (Mesolithic) remains of a WHG (Western Hunter-Gatherers) known as "La Braña 1", found in La Braña-Arintero, León, Spain.[13] La Braña 1 was part of the so-called Villabruna cluster, named after a site in northeast Italy. By the time of the Villabruna cluster, however, the dominant Y-DNA haplogroup in Western Europe was I2. (And the balance was again altered by the mass migrations into Europe of Neolithic Middle Eastern farmer and Bronze Age Indo-Europeans.)[14][15] further: a male from the Great Hungarian Plain, approximately contemporaneous to the La Braña man also carried it,[7][16] as did the 30,000-year-old remains of a Vestonice Cluster hunter-gatherer from the Pavlov-Dolní Věstonice area (Czech Republic),[17] as well as a 34,000 years old Russian hunter gatherers from Sungir (Sunghir 1/2/3/4).[18]

C1b (F1370)

Basal C1b* (F1370) has been identified in the remains of an individual known as Kostenki-14 who died circa 37,000 years BP (Upper Paleolithic) that was found at the Kostyonki archaeological site in western Russia. It has also been found in a small number of males from the Middle East.[19]

C1b2 (C-B477) is the common ancestor of C-M38 and C-M347.

It is likely that more than 40% of Indigenous Australian males, before contact with European settlers, belonged to the subclade C1b2b (C-M347) known previously as C4.[20] Within C-M347 at least two subclades have been identified: C1b2b1 (DYS390.1del,M210) and an as yet unresolved offshoot of the C1b2b1 paragroup (i.e. M347xDYS390.1del,M210).

C1b2a (M38), previously known as C2, is virtually restricted to Island South East Asia, New Guinea, Melanesia, and Polynesia.[7] Of its subclades, C1b2a1a (P33) is found at a high frequency among Polynesians.[21][22]

Some members of populations in parts of Asia have been found to carry Y-DNA that belongs to haplogroup C1b1-AM00694/K281. C1b1b-B68 has been found in a Dusun in Brunei.[23] C1b1a-B66/Z16458 has three primary subclades: C1b1a1-M356, C1b1a2-B65, and C1b1a3-Z16582. C1b1a3-Z16582 has been found in some individuals from Saudi Arabia and Iraq. C1b1a2-B65 comprises two subclades, C1b1a2a-B67 and C1b1a2b-F725. C1b1a2a-B67 has been found in two Lebbo' people from Borneo,[23] an individual from Hadakewa on Lembata,[24] and four individuals from Flores (one from Rampasasa and three from Cibal).[24] The TMRCA of C-B67 has been estimated to be 17,007 (95% CI 19,608 <-> 14,627) years before present, with the Lebbo' individuals from Borneo belonging to a branch that is basal to the rest.[24] C1b1a2b-F725 has been found in Han Chinese in China (Guangdong, Hunan, and Shaanxi), Dai people in Yunnan, Murut people in Brunei,[23] Malay people in Singapore,[23] and Aeta people in the Philippines.[23] C1b1a1-M356 has been found with overall low frequency in South Asia, Central Asia, and Southwest Asia.[25][26][27][28][29][30]

Phylogenetic structure

  • C1 F3393
    • C1a CTS11043
      • C1a1 M8 Japan, China, South Korea, North Korea
        • C1a1a P121
          • C1a1a1 CTS9336
            • C1a1a1a CTS6678 Japan, South Korea
            • C1a1a1b Z1356 Japan
          • C1a1a2 Z45460 China (Liaoning)
      • C1a2 (previously C6) V20
        • C1a2a V182
          • C1a2a1 V222 United Kingdom, Italy (Calabria), Greece, Hungary, Ukraine
            • C-Y12152 Scotland
              • C-BY1117 Hungary, England
              • C-Y11695 Italy, Greece, Ukraine
            • C-BY67541 Italy, Germany
          • C1a2a2 Z29329 Spain, Poland
        • C1a2b Z38888/F16270/PH428 Lithuania, Ireland, England, Algeria, Armenians
          • C-Z44576 Algeria
          • C-Z44526/F15182 England, Armenian
    • C1b F1370
      • C1b1 K281
        • C1b1a B66/Z16458
          • C-K176
            • C-MF166805/C-M10417 - China (Onsu County Uyghur[10]), Singapore[11]
            • C1b1a1 (previously C5) M356 India, Sri Lanka, Bangladesh, Nepal, Pakistan, Afghanistan,[31] Iran, United Arab Emirates, Kuwait, Saudi Arabia, China (Xinjiang & Shanxi), Myanmar,[32] Thailand[33]
          • C1b1a2 B65
            • C-B67
            • C-AM00848/F725 Singapore, China (Yunnan, Guangdong, Hunan, Shaanxi), Borneo, the Philippines
          • C1b1a3 Z16582 Saudi Arabia, Iraq
        • C1b1b B68 Borneo
      • C1b2 B477/Z31885
        • C1b2a (previously C2) M38
          • C1b2a1 M208
            • C1b2a1a P33 Polynesia
            • C1b2a1b P54
        • C1b2b (previously C4) M347 Australia
          • C1b2b1 M210

See also

Footnotes

  1. ↑ C-F3393 tree, Yfull
  2. ↑ 崎谷満『DNA・考古・言語の学際研究が示す新・日本列島史』（勉誠出版　2009年）(in Japanese)
  3. ↑ Hallast, Pille; Agdzhoyan, Anastasia; Balanovsky, Oleg; Xue, Yali; Tyler-Smith, Chris (2021). "A Southeast Asian origin for present-day non-African human y chromosomes". Human Genetics. 140 (2): 299–307. doi:10.1007/s00439-020-02204-9. PMC 7864842. PMID 32666166.
  4. 1 2 Hallast P, Batini C, Zadik D, Maisano Delser P, Wetton JH, Arroyo-Pardo E, et al. (March 2015). "The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades". Molecular Biology and Evolution. 32 (3): 661–73. doi:10.1093/molbev/msu327. PMC 4327154. PMID 25468874.
  5. 1 2 Soon-Hee Kim, Ki-Cheol Kim, Dong-Jik Shin, Han-Jun Jin, Kyoung-Don Kwak, Myun-Soo Han, Joon-Myong Song, Won Kim, and Wook Kim (2011), "High frequencies of Y-chromosome haplogroup O2b-SRY465 lineages in Korea: a genetic perspective on the peopling of Korea." Investigative Genetics 2011, 2:10. http://www.investigativegenetics.com/content/2/1/10
  6. ↑ 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. PMC 4943878. PMID 27135931.
  7. 1 2 3 ISOGG, 2015 "Y-DNA Haplogroup C and its Subclades – 2015" (15 September 2015).
  8. ↑ Phylogenetic tree of haplogroup C-M8/C-M105 according to FamilyTreeDNA
  9. ↑ Phylogenetic tree of haplogroup C-M8 according to YFull
  10. 1 2 Phylogenetic tree of haplogroup C-F3393 according to 23mofang
  11. 1 2 Phylogenetic tree of haplogroup C-F3393 according to TheYtree
  12. ↑ Scozzari R, Massaia A, D'Atanasio E, Myres NM, Perego UA, Trombetta B, Cruciani F (202). "Molecular dissection of the basal clades in the human Y chromosome phylogenetic tree". PLOS ONE. 7 (11): e49170. Bibcode:2012PLoSO...749170S. doi:10.1371/journal.pone.0049170. PMC 3492319. PMID 23145109.
  13. ↑ "Dienekes' Anthropology Blog: Brown-skinned, blue-eyed, Y-haplogroup C-bearing European hunter-gatherer from Spain (Olalde et al. 2014)". 26 January 2014.
  14. ↑ Gibbons, Ann (2017). "There's no such thing as a 'pure' European—or anyone else". Science. doi:10.1126/science.aal1186.
  15. ↑ Siska V, Jones ER, Jeon S, Bhak Y, Kim HM, Cho YS, Kim H, Lee K, Veselovskaya E, Balueva T, Gallego-Llorente M, Hofreiter M, Bradley DG, Eriksson A, Pinhasi R, Bhak J, Manica A (February 2017). "Genome-wide data from two early Neolithic East Asian individuals dating to 7700 years ago". Science Advances. 3 (2): e1601877. Bibcode:2017SciA....3E1877S. doi:10.1126/sciadv.1601877. PMC 5287702. PMID 28164156.
  16. ↑ Haak W, Lazaridis I, Patterson N, Rohland N, Mallick S, Llamas B, et al. (June 2015). "Massive migration from the steppe was a source for Indo-European languages in Europe". Nature. 522 (7555): 207–11. arXiv:1502.02783. Bibcode:2015Natur.522..207H. doi:10.1038/nature14317. PMC 5048219. PMID 25731166.
  17. ↑ Fu Q, Posth C, Hajdinjak M, Petr M, Mallick S, Fernandes D, et al. (June 2016). "The genetic history of Ice Age Europe". Nature. 534 (7606): 200–5. Bibcode:2016Natur.534..200F. doi:10.1038/nature17993. PMC 4943878. PMID 27135931.
  18. ↑ Sikora M, Seguin-Orlando A, Sousa VC, Albrechtsen A, Korneliussen T, Ko A, et al. (November 2017). "Ancient genomes show social and reproductive behavior of early Upper Paleolithic foragers". Science. 358 (6363): 659–662. Bibcode:2017Sci...358..659S. doi:10.1126/science.aao1807. PMID 28982795.
  19. ↑ "Haplogroup C Project".
  20. ↑ Hudjashov G, Kivisild T, Underhill PA, Endicott P, Sanchez JJ, Lin AA, Shen P, Oefner P, Renfrew C, Villems R, Forster P (May 2007). "Revealing the prehistoric settlement of Australia by Y chromosome and mtDNA analysis". Proceedings of the National Academy of Sciences of the United States of America. 104 (21): 8726–30. Bibcode:2007PNAS..104.8726H. doi:10.1073/pnas.0702928104. PMC 1885570. PMID 17496137.
  21. ↑ Hammer MF, Karafet TM, Park H, Omoto K, Harihara S, Stoneking M, Horai S (2006). "Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomes". Journal of Human Genetics. 51 (1): 47–58. doi:10.1007/s10038-005-0322-0. PMID 16328082.
  22. ↑ Cox MP, Redd AJ, Karafet TM, Ponder CA, Lansing S, Sudoyo H, Hammer MF (October 2007). "A Polynesian motif on the Y chromosome: population structure in remote Oceania". Human Biology. 79 (5): 525–35. doi:10.1353/hub.2008.0004. hdl:1808/13585. PMID 18478968. S2CID 4834817.
  23. 1 2 3 4 5 Karmin M, Saag L, Vicente M, Wilson Sayres MA, Järve M, Talas UG, et al. (April 2015). "A recent bottleneck of Y chromosome diversity coincides with a global change in culture". Genome Research. 25 (4): 459–66. doi:10.1101/gr.186684.114. PMC 4381518. PMID 25770088.
  24. 1 2 3 4 5 6 Monika Karmin, Rodrigo Flores, Lauri Saag, Georgi Hudjashov, Nicolas Brucato, Chelzie Crenna-Darusallam, Maximilian Larena, Phillip L Endicott, Mattias Jakobsson, J Stephen Lansing, Herawati Sudoyo, Matthew Leavesley, Mait Metspalu, François-Xavier Ricaut, and Murray P Cox, "Episodes of Diversification and Isolation in Island Southeast Asian and Near Oceanian Male Lineages," Molecular Biology and Evolution, Volume 39, Issue 3, March 2022, https://doi.org/10.1093/molbev/msac045
  25. ↑ Gayden T, Cadenas AM, Regueiro M, Singh NB, Zhivotovsky LA, Underhill PA, Cavalli-Sforza LL, Herrera RJ (May 2007). "The Himalayas as a directional barrier to gene flow". American Journal of Human Genetics. 80 (5): 884–94. doi:10.1086/516757. PMC 1852741. PMID 17436243.
  26. ↑ Fornarino S, Pala M, Battaglia V, Maranta R, Achilli A, Modiano G, Torroni A, Semino O, Santachiara-Benerecetti SA (July 2009). "Mitochondrial and Y-chromosome diversity of the Tharus (Nepal): a reservoir of genetic variation". BMC Evolutionary Biology. 9 (1): 154. Bibcode:2009BMCEE...9..154F. doi:10.1186/1471-2148-9-154. PMC 2720951. PMID 19573232.
  27. ↑ Cadenas AM, Zhivotovsky LA, Cavalli-Sforza LL, Underhill PA, Herrera RJ (March 2008). "Y-chromosome diversity characterizes the Gulf of Oman". European Journal of Human Genetics. 16 (3): 374–86. doi:10.1038/sj.ejhg.5201934. PMID 17928816.
  28. ↑ Abu-Amero KK, Hellani A, González AM, Larruga JM, Cabrera VM, Underhill PA (September 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.
  29. ↑ Sengupta S, Zhivotovsky LA, King R, Mehdi SQ, Edmonds CA, Chow CE, Lin AA, Mitra M, Sil SK, Ramesh A, Usha Rani MV, Thakur CM, Cavalli-Sforza LL, Majumder PP, Underhill PA (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". American Journal of Human Genetics. 78 (2): 202–21. doi:10.1086/499411. PMC 1380230. PMID 16400607.
  30. ↑ Karafet TM, Mendez FL, Meilerman MB, Underhill PA, Zegura SL, Hammer MF (May 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.
  31. ↑ Lacau H, Gayden T, Regueiro M, Chennakrishnaiah S, Bukhari A, Underhill PA, Garcia-Bertrand RL, Herrera RJ (2012). "Afghanistan from a Y-chromosome perspective". European Journal of Human Genetics. 20 (10): 1063–1070. doi:10.1038/ejhg.2012.59. PMC 3449065. PMID 22510847.
  32. ↑ Peng MS, He JD, Fan L, Liu J, Adeola AC, Wu SF, Murphy RW, Yao YG, Zhang YP (2013). "Retrieving Y chromosomal haplogroup trees using GWAS data". European Journal of Human Genetics. 22 (8): 1046–1050. doi:10.1038/ejhg.2013.272. PMC 4350590. PMID 24281365.
  33. ↑ Brunelli A, Kampuansai J, Seielstad M, Lomthaisong K, Kangwanpong D, Ghirotto S, et al. (2017). "Y chromosomal evidence on the origin of northern Thai people". PLOS ONE. 12 (7): e0181935. Bibcode:2017PLoSO..1281935B. doi:10.1371/journal.pone.0181935. PMC 5524406. PMID 28742125.
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