Open main menu

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]

Contents

SubcladesEdit

C-B90Edit

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-B91Edit

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-B93Edit

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-M77Edit

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-B469Edit

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-B470Edit

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

C-B87Edit

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-B89Edit

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-B80Edit

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]

FootnotesEdit

  1. ^ a b c d YFull Haplogroup YTree v5.04 as of 16 May 2017
  2. ^ a b c d e f g h i j k l m n o p q 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. ^ a b c 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. ^ a b c d 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. ^ a b c d e f g h i 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. ^ a b c d 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. ^ a b c 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 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. ^ a b 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. ^ a b c d e f g h 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. ^ a b c 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. ^ a b 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. ^ a b c d e 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. ^ a b 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. ^ a b 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
"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