Haplogroup C-M48

Haplogroup C-M48 also known as C2b1a2 is a Y-chromosome DNA haplogroup.

Haplogroup C-M48 (C2b1a2)
Possible time of origin14,700 [95% CI 13,300 <-> 16,100] years before present[1]

15,557 [95% CI 14,443 <-> 16,732] years before present[2]
Coalescence age12,131 [95% CI 10,916 <-> 13,363] years before present[2]

2,750 ± 1,370 years before present[3]

3,500 [95% CI 300–19,700] years before present[4]

3,800 [95% CI 3,100 <-> 4,600] years before present[1]

5,940 ± 2,900 years (evolutionary mutation rate) or 1,630 ± 800 years (genealogical mutation rate)[5]

10,800 ± 2,300 years ago[6] or 9,300 ± 3,300 years ago[6]
Possible place of originperhaps Mongolia or the Lake Baikal region[3]
AncestorC-F1699 (C2b1)
Defining mutationsM48, M77, M86
Highest frequenciesOroqen 42%[7]-68%,[8] Evenks 44%[9]-71%,[3] Evenks 27%[7]-70%,[10] Udegey 60%,[11] Negidal 20%[11]-100%,[11] Evens 5%[12]-61%,[8] Kazakhs 42%-63%,[5][13][14] Itelmen 39%,[11] Ulchi/Nanai 38%,[11] Kalmyks 37%-45%,[15][5] Nivkhs 35%,[11] Ulchi 35%,[16] Koryaks 33%,[11] Yukaghir 23%,[10] Mongols (Uriankhai 33%, Zakhchin 30%, Khalkh 15%, Khoton 10%[4]), Dolgans 12%,[17] Hezhe 11%,[7] Tuvans 9% [6%-20%],[5][13][11] Kyrgyz 7% [5%-12%][18][13][14]

It is found frequently amongst members of Central Asian and Siberian peoples, such as the Evenks,[5] Evens,[5] Ulchi,[16] Kazakhs,[5] Koryaks, Mongols (especially Oirats, such as Kalmyks,[5][19] Zakhchin,[4] Uriankhai,[4] and the population of northwest Mongolia in general[18]), and Yukaghirs.

Haplogroup C-M48 also has been found occasionally in some ethnic groups outside its typical range in Siberia and Central Asia, such as Japanese (2/53 C-M86 Kyushu, 1/70 C-M86 Tokushima, 0/61 C-M86 Shizuoka, 0/45 C-M217 Okinawa, 0/26 C-M217 Aomori, 0/4 C-M86 Ainu[8]), Tibetans (4/479 C-M48 Xizang, 0/52 C-M48 Qinghai[6]), Bhutanese (1/21 C-M86/M77),[20] Ossetians (1/21 C-M48 South Ossetians),[21] Adyghe (1/154 C-M48),[21] and Russians (1/406 C-M77[5]), some of whom exhibit divergent Y-STR haplotypes.[6]

Subclades

C-B90

Karmin et al. 2015 have found a divergent branch of C-M48, which they have named C3c2-B90 and which ISOGG has named C2b1a2b-B90, in three Koryaks and one Evenk.[2] Although the M48 and M77 SNPs have long been considered to be phylogenetically equivalent, marking the same clade of the human Y-DNA phylogeny, the C3c2-B90 clade has been found to be positive for the M48 mutation, but negative for the M77 mutation.

C-B91

C-B91 is a subclade of C-B90 that has been found in Koryaks.[2] It subsumes the C-B92 and C-B94 subclades. Karmin et al. 2015 have found Y-DNA belonging to C-B92 in two Koryaks who they have estimated to share a most recent common ancestor 594 [95% CI 285 <-> 939] years before present.[2] The two Koryaks in C-B92 have been estimated to share a most recent common ancestor with a Koryak who belongs to the C-B94 subclade 3,812 [95% CI 3,005 <-> 4,654] years before present.[2]

C-B93

C-B93 is a subclade of C-B90 that has been found in 7.7% (4/52) of a sample of Ulchi[16] and in one Evenk.[2] It has been estimated to share a most recent common ancestor with C-B91 of the Koryaks 4,992 [95% CI 4,188 <-> 5,732] years before present.[2]

C-M77

Karmin et al. 2015 have estimated the coalescence age of C-M77, which they have named C3c1a-M77 and which ISOGG has named C2b1a2a-M86/M77, to be 2,804 [95% CI 2,228 <-> 3,431] years before present based on their three examples of C-B469 and five examples of C-B80 Y-DNA.[2]

C-B469

C-B469 is a subclade of C-M77. Y-DNA that belongs to the C-B469 clade, which has been named C2b1a2a1a-B469 by ISOGG, has been found in a Zakhchin Mongolian, an Evenk, and a Buryat.[2] The Evenk individual and the Buryat individual both belong to the C-B87 subclade and have been estimated to share a most recent common ancestor 1,792 [95% CI 1,255 <-> 2,376] years before present.[2] Those two individuals have been estimated to share a most recent common ancestor with the Zakhchin individual, who belongs to the C-B470 subclade, 2,562 [95% CI 2,003 <-> 3,161] years before present.[2]

C-B469 also has been found in HGDP01250, a Y-DNA sample obtained from a Xibo in China as part of the Human Genome Diversity Project, and in an Even from Nelkan, Khabarovsk Krai.

Balanovska et al. (2018) found C-F13686, a subclade of C-B469 that may be phylogenetically equivalent to C-B87,[1] in 7.7% (4/52) of a sample of Ulch people.[16]

Balinova et al. (2019) observed Y-DNA that belongs to C-B469 in 10.1% (7/69) of a sample of Derbet Kalmyks from Russia, 2.5% (1/40) of a sample of Derbet Mongols from western Mongolia, and 1.7% (1/58) of a sample of Torgut Kalmyks from Russia.[22]

C-B470

C-B470 is a subclade of C-B469. This subclade has been observed in a Zakhchin[2] and in an Ulch.[16]

C-B87

C-B87 is a subclade of C-B469. The time to most recent common ancestor between C-B87 and C-B470 (which includes the Y-DNA of a Zakhchin Mongolian individual and an Ulch individual) has been estimated to be 2,562 [95% CI 2,003 <-> 3,161] years before present.[2]

C-B87(xB89) Y-DNA, which belongs to C-B87 but does not belong to its C-B89 subclade, has been found in a Buryat (C-B88) and in a Xibo.

C-B89

C-B89 is a subclade of C-B87 that is known from the Y-DNA of an Even from Nelkan, Khabarovsk Krai[1] and the Y-DNA of an Evenk.[2]

C-B80

Y-DNA that belongs to this clade, which has been named C2b1a2a1b-B80 by ISOGG, has been found in five Evens (four from Magadan Oblast and one from Sakha Republic).[2] These five Even members of C-B80 have been estimated to share a most recent common ancestor 1,674 [95% CI 1,190 <-> 2,205] years before present.[2]

Footnotes
  1. YFull Haplogroup YTree v5.04 as of 16 May 2017
  2. Monika Karmin, Lauri Saag, Mário Vicente, et al., "A recent bottleneck of Y chromosome diversity coincides with a global change in culture." Genome Research (2015) 25: 459-466. doi: 10.1101/gr.186684.114
  3. Karafet TM, Osipova LP, Gubina MA, Posukh OL, Zegura SL, Hammer MF (December 2002). "High levels of Y-chromosome differentiation among native Siberian populations and the genetic signature of a boreal hunter-gatherer way of life". Hum. Biol. 74 (6): 761–89. doi:10.1353/hub.2003.0006. PMID 12617488.
  4. Toru Katoh, Batmunkh Munkhbat, Kenichi Tounai, et al., "Genetic features of Mongolian ethnic groups revealed by Y-chromosomal analysis." Gene 346 (2005) 63–70. doi:10.1016/j.gene.2004.10.023
  5. Boris Malyarchuk, Miroslava Derenko, Galina Denisova, et al. (2010) "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
  6. Hua Zhong, Hong Shi, Xue-Bin Qi, Chun-Jie Xiao, Li Jin, Runlin Z Ma, and Bing Su, "Global distribution of Y-chromosome haplogroup C reveals the prehistoric migration routes of African exodus and early settlement in East Asia." Journal of Human Genetics (2010) 55, 428–435; doi:10.1038/jhg.2010.40; published online 7 May 2010.
  7. 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. 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. 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.
  10. 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.
  11. 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.
  12. 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.
  13. 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.
  14. Zerjal T, Wells RS, Yuldasheva N, Ruzibakiev R, Tyler-Smith C (September 2002). "A genetic landscape reshaped by recent events: Y-chromosomal insights into central Asia". Am. J. Hum. Genet. 71 (3): 466–82. doi:10.1086/342096. PMC 419996. PMID 12145751.
  15. 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.
  16. E. V. Balanovska, Y. V. Bogunov, E. N. Kamenshikova, O. A. Balaganskaya, A. T. Agdzhoyan, A. A. Bogunova, R. A. Skhalyakho, I. E. Alborova, M. K. Zhabagin, S. M. Koshel, D. M. Daragan, E. B. Borisova, A. A. Galakhova, O. V. Maltceva, Kh. Kh. Mustafin, N. K. Yankovsky, and O. P. Balanovsky, "Demographic and Genetic Portraits of the Ulchi Population." ISSN 1022-7954, Russian Journal of Genetics, 2018, Vol. 54, No. 10, pp. 1245–1253.
  17. Sardana A Fedorova, Maere Reidla, Ene Metspalu, et al., "Autosomal and uniparental portraits of the native populations of Sakha (Yakutia): implications for the peopling of Northeast Eurasia." BMC Evolutionary Biology 2013, 13:127. http://www.biomedcentral.com/1471-2148/13/127
  18. Di Cristofaro J, Pennarun E, Mazières S, Myres NM, Lin AA, et al. (2013) "Afghan Hindu Kush: Where Eurasian Sub-Continent Gene Flows Converge." PLoS ONE 8(10): e76748. doi:10.1371/journal.pone.0076748
  19. Boris Malyarchuk, Miroslava Derenko, Galina Denisova, Sanj Khoyt, Marcin Wozniak, Tomasz Grzybowski, and Ilya Zakharov, "Y-chromosome diversity in the Kalmyks at the ethnical and tribal levels." Journal of Human Genetics (2013) 58, 804–811; doi:10.1038/jhg.2013.108; published online 17 October 2013.
  20. Hallast et al. 2014
  21. Bayazit Yunusbayev, Mait Metspalu, Mari Järve, et al. (2012), "The Caucasus as an Asymmetric Semipermeable Barrier to Ancient Human Migrations." Molecular Biology and Evolution 29(1):359–365. doi:10.1093/molbev/msr221 Advance Access publication September 13, 2011.
  22. Natalia Balinova, Helen Post, Alena Kushniarevich, Siiri Rootsi, et al. (2019), "Y-chromosomal analysis of clan structure of Kalmyks, the only European Mongol people, and their relationship to Oirat-Mongols of Inner Asia." European Journal of Human Genetics. https://doi.org/10.1038/s41431-019-0399-0
Phylogenetic 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
IJK H
IJ K
I   J     LT [χ 5]       K2 [χ 6]
L     T    K2a [χ 7]        K2b [χ 8]     K2c     K2d K2e [χ 9]  
K-M2313 [χ 10]     K2b1 [χ 11] P [χ 12]
NO   S [χ 13]  M [χ 14]    P1     P2
N O Q R
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