Haplogroup C (mtDNA)

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In human mitochondrial genetics, Haplogroup C is a human mitochondrial DNA (mtDNA) haplogroup.

Origin

Haplogroup C is believed to have arisen in East Asia[1] some 24,000 years before present. It is a descendant of the haplogroup M. Haplogroup C shares six mutations downstream of the MRCA of haplogroup M with haplogroup Z and five mutations downstream of the MRCA of haplogroup M with other members of haplogroup M8. This macro-haplogroup is known as haplogroup M8'CZ or simply as haplogroup M8.

Distribution

File:Eurasian frequency distributions of mtDNA haplogroups C.png
Frequency distribution of mtDNA haplogroup C in Eurasia
File:Approximate geographical distribution of the C1 sub-clades in modern and Mesolithic Yuzhnyy Oleni Ostrov populations.png
Approximate geographical distribution of the C1 sub-clades.

Haplogroup C is found in Northeast Asia[2] (including Siberia) and the Americas. In Eurasia, Haplogroup C is especially frequent among populations of arctic Siberia, such as Nganasans, Dolgans, Yakuts, Evenks, Evens, Yukaghirs, and Koryaks.[3][4][5] Haplogroup C is one of five mtDNA haplogroups found in the indigenous peoples of the Americas,[2] the others being A, B, D, and X. The subclades C1b, C1c, C1d, and C4c are found in the first people of the Americas. C1a is found only in Asia.

In 2010, Icelandic researchers discovered C1e lineage in their home country, estimating an introduction date of year 1700 AD or earlier, indicating a possible introduction during the Viking expeditions to the Americas. A Native American origin for this C1e lineage is likely, but the researchers note that a European or Asian one cannot be ruled out.[6][7][8]

In 2014, a study discovered a new mtDNA subclade C1f from the remains of 3 people found in north-western Russia and dated to 7,500 years ago. It has not been detected in modern populations. The study proposed the hypothesis that the sister C1e and C1f subclades had split early from the most recent common ancestor of the C1 clade and had evolved independently. Subclade C1e had a northern European origin. Iceland was settled by the Vikings 1,130 years ago and they had raided heavily into western Russia, where the sister subclade C1f is now known to have resided. They proposed that both subclades were brought to Iceland through the Vikings, however C1e went extinct on mainland northern Europe due to population turnover and its small representation, and subclade C1f went extinct completely.[9]

In 2015, a study conducted in the Aconcagua mummy identified its mtDNA lineage belongs to the subclade C1bi, which contains 10 distinct mutations from C1b.Template:Sfn

Table of Frequencies by ethnic group

Population Frequency Count Source Subtypes
Evenks (Stony Tunguska) 0.769 39 Script error: No such module "Footnotes". C4a2=7, C4a1c=6, C4b1=5, C5d1=4, C4b=3, C4b3=3, C4a1c1a=1, C5b1b=1
Evenk 0.718 71 Script error: No such module "Footnotes". C(xC1, C5)=41, C5=10
Yukaghir 0.670 100 Script error: No such module "Footnotes". C(xC1, C5)=54, C5=13
Evenk (East) 0.644 45 Script error: No such module "Footnotes". C(xC1, C5)=17, C5=12
Tofalar 0.621 58 Script error: No such module "Footnotes". C(xC1, C5)=31, C5=5
Evens (Sebjan) 0.556 18 Script error: No such module "Footnotes". C4b=6, C4a1c=3, C5b1b=1
Yukaghirs 0.550 20 Script error: No such module "Footnotes". C4a1c=4, C4b3a=2, C4b7=2, C4a2=1, C5a2=1, C5d1=1
Yukaghirs (Yakutia) 0.545 22 Script error: No such module "Footnotes". C4b3a=5, C5d1=3, C4a1c=1, C4a2=1, C4b1=1, C5a2a=1
Evens (Tompo) 0.519 27 Script error: No such module "Footnotes". C4a1c=6, C4a2=3, C4b=2, C4b1=2, C5d1=1
Nganasans 0.513 39 Script error: No such module "Footnotes". C(xC1, C5)=12, C5=8
Tozhu Tuvans 0.479 48 Script error: No such module "Footnotes". C(xC1, C5)=16, C5=7
Evenks (Yakutia) 0.472 125 Script error: No such module "Footnotes". C4b1=13, C4a1c=11, C4b9=9, C4a2=8, C4b=5, C5b1b=4, C5a2=3, C5d1=2, C4a1=1, C4a1d=1, C4b3a=1, C5a1=1
Tuvans 0.472 231 Template:CN C(xC1, C5)=88, C5=21
Yakut 0.469 254 Template:CN C(xC1, C5)=95, C5=24
Evens (Berezovka) 0.467 15 Script error: No such module "Footnotes". C4b3a=4, C4b=1, C4b1=1, C4b7=1
Evenk (West) 0.466 73 Script error: No such module "Footnotes". C(xC1, C5)=29, C5=5
Evenks (Taimyr) 0.458 24 Script error: No such module "Footnotes". C4a1c=5, C4b1=4, C4a1c1a=1, C4a2=1
Yakut (Central) 0.457 164 Script error: No such module "Footnotes". C4a1c=16, C4a2=14, C5b1b=13, C4b1=8, C4a1d=7, C4b=4, C4b1a=3, C5a1=3, C4a1=2, C5b1a=2, C4b3a=1, C5a2=1, C7a1c=1
Evens (Yakutia) 0.457 105 Script error: No such module "Footnotes". C4a1c=15, C5d1=11, C4a2=4, C4b3a=3, C4b1=2, C4b7=2, C4b9=2, C4b=2, C5a1=2, C7a1c=2, C4b1a=1, C4b2=1, C5a2a=1
Evenks (Nyukzha) 0.413 46 Script error: No such module "Footnotes". C4a2=10, C4b1=3, C4a1c=2, C4a1d=1, C4b1a=1, C5a2=1, C7a1c=1
Yakut (Northern) 0.405 148 Script error: No such module "Footnotes". C4a1c=17, C4b1=16, C4a2=11, C5b1a=4, C5b1b=4, C4b9=3, C4b=2, C5a1=2, C5d1=1
Koryaks 0.400 15 Script error: No such module "Footnotes". C4b=3, C5a2=3
Dolgans 0.390 154 Script error: No such module "Footnotes". C4a1c=33, C4b1=9, C5b1b=5, C4b3a=3, C4a2=2, C4b1a=2, C5b1a=2, C4b8=1, C4b=1, C5d1=1, C7a1c=1
Even 0.377 191 Template:CN C(xC1, C5)=50, C5=22
Koryak 0.368 182 Template:CN C(xC1, C5)=39, C5=28
Yakut (Vilyuy) 0.360 111 Script error: No such module "Footnotes". C4a1c=14, C4a2=10, C4b=5, C4b1=4, C4b1a=2, C5a2=2, C5b1b=2, C4a1=1
Evens (Kamchatka) 0.333 39 Script error: No such module "Footnotes". C4b1=6, C4b3a=3, C4a1c=2, C5a2=1, C5d1=1
Altai-Kizhi 0.322 90 Script error: No such module "Footnotes". C(xC1, C5)=21, C5=8
Chuvantsi 0.313 32 Script error: No such module "Footnotes". C(xC1, C5)=10
Oroqen 0.295 44 Script error: No such module "Footnotes". C(xC1, C5)=9, C5=4
Teleut 0.283 53 Script error: No such module "Footnotes". C(xC1, C5)=11, C5=4
Evens (Sakkyryyr) 0.261 23 Script error: No such module "Footnotes". C4a1c=2, C4b=2, C4a1d=1, C4b1=1
Udegey 0.226 31 Script error: No such module "Footnotes". C4b1=6, C4a1d=1
Mongolian (Ulaanbaatar) 0.213 47 Script error: No such module "Footnotes". C=10
Buryat 0.212 419 Template:CN C(xC1, C5)=66, C1=3, C5=20
Khakassian 0.208 110 Script error: No such module "Footnotes". C(xC1, C5)=28, C5=2
Barghut 0.201 149 Template:CN C4a1a1=6, C4a1a2=3, C4a1b2=3, C4a2a1=2, C4b1a=2, C4b1=2, C4=2, C5b=2, C4a1a=1, C4a1a1a2=1, C4a1a2a2=1, C4a2a2=1, C5a1=1, C5a2=1, C5b1a=1, C7=1
Tubalar 0.194 72 Script error: No such module "Footnotes". C(xC1, C5)=12, C5=2
Altaian 0.191 110 Script error: No such module "Footnotes". C(xC1, C5)=21
Evenks (Iengra) 0.190 21 Script error: No such module "Footnotes". C4a2=2, C4b1=1, C5a2=1
Udege 0.174 46 Script error: No such module "Footnotes". C(xC1, C5)=8
Mongolian (Ulaanbaatar) 0.170 47 Script error: No such module "Footnotes". C4=4, C*(xC1,C4,C5)=3, C5=1
Telenghit 0.169 71 Script error: No such module "Footnotes". C(xC1, C5)=10, C5=2
Mongolian 0.153 150 Template:CN C(xC1, C5)=18, C1=2, C5=3
Negidal 0.152 33 Script error: No such module "Footnotes". C(xC1, C5)=3, C5=2
Kyrgyz (Kyzylsu) 0.145 138 Template:CN C=20
Kyrgyz 0.140 200 Template:CN C(xC1, C5)=18, C1=1, C5=9
Ulch 0.138 87 Template:CN C(xC1, C5)=6, C1=1, C5=5
Turkmen 0.135 178 Template:CN C(xC1, C5)=14, C5=10
Chukchi 0.132 417 Template:CN C(xC1, C5)=27 C5=28
Kazakh (Xinjiang) 0.132 53 Script error: No such module "Footnotes". C(xC1, C5)=5 C5=2
Itelmen 0.130 46 Script error: No such module "Footnotes". C5=6
Shor 0.122 82 Script error: No such module "Footnotes". C(xC1, C5)=9 C5=1
Orok 0.115 61 Script error: No such module "Footnotes". C1=7
Kyrgyz (Taxkorgan) 0.103 68 Script error: No such module "Footnotes". C4=6, C5=1
Thai 0.100 40 Script error: No such module "Footnotes". C=4
Nanai 0.094 85 Script error: No such module "Footnotes". C(xC1, C5)=5, C1=1, C5=2
Kazakh 0.086 511 Template:CN C(xC1, C5)=32, C1=4, C5=8
Mongolian (Inner Mongolia) 0.083 97 Template:CN C(xC1, C5)=5
Altaian (Kazakhstan) 0.082 98 Template:CN C(xC1, C5)=8
Kyrgyz (Artux) 0.074 54 Script error: No such module "Footnotes". C4=4
Tajik 0.073 82 Script error: No such module "Footnotes". C(xC1, C5)=6
Sarikoli 0.070 86 Script error: No such module "Footnotes". C4a1a+A14878G=2, C4a1=2, C4b1=1, C4+T152C!+T4742C+T8602C=1
Daur 0.066 45 Script error: No such module "Footnotes". C(xC1, C5)=2, C1=1
Uyghur (Xinjiang) 0.064 47 Script error: No such module "Footnotes". C(xC1, C5)=3
Uzbek 0.061 130 Script error: No such module "Footnotes". C(xC1, C5)=6, C5=2
Vietnamese 0.048 42 Script error: No such module "Footnotes". C=2
Han Chinese 0.045 1930 Template:CN C(xC1, C5)=72, C5=15
Thai 0.034 552 Template:CN C(xC1, C5)=19
Korean (mostly Ulsan) 0.030 1094 Template:CN C=33
Manchu 0.025 40 Script error: No such module "Footnotes". C=1
Korean 0.024 694 Template:CN C=17
Korean (China) 0.020 51 Script error: No such module "Footnotes". C=1
Korean (Korea) 0.016 185 Script error: No such module "Footnotes". C=3
Korean 0.015 537 Script error: No such module "Footnotes". C5=4, C(xC1,C5)=4
Korean 0.010 103 Script error: No such module "Footnotes". C(xC1,C4,C5)=1
Eskimo 0.008 254 Template:CN C(xC1, C5)=2
Japanese 0.005 1312 Script error: No such module "Footnotes". C1=4, C5=1, C(xC1,C5)=1
Japanese (Tokyo) 0.000 118 Script error: No such module "Footnotes". -
Ainu 0.000 51 Template:CN -
Nivkh 0.000 38 Script error: No such module "Footnotes". -
Han (Beijing) 0.000 40 Script error: No such module "Footnotes". -
Nivkh 0.000 56 Script error: No such module "Footnotes". -

Subclades

Tree

This phylogenetic tree of haplogroup C subclades is based on the paper by Mannis van Oven and Manfred Kayser Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation[10] and subsequent published research.

Popular culture

See also

Template:Sister project

Phylogenetic tree of human mitochondrial DNA (mtDNA) haplogroups

  Mitochondrial Eve (L)    
L0 L1–6  
L1 L2   L3     L4 L5 L6
M N  
CZ D E G Q   O A S R   I W X Y
C Z B F R0   pre-JT   P   U
HV JT K
H V J T

References

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Bibliography

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External links

  1. ↑ Cite error: Invalid <ref> tag; no text was provided for refs named Dko
  2. ↑ a b Haplogroup C.
  3. ↑ a b c d e f g h i j k l m n o p q r Script error: No such module "Citation/CS1".
  4. ↑ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag ah ai aj ak al am an ao ap aq ar as at Script error: No such module "Citation/CS1".
  5. ↑ Script error: No such module "Citation/CS1".
  6. ↑ Script error: No such module "Citation/CS1".
  7. ↑ Vikings brought Amerindian to Iceland 1,000 years ago: study, November 17, 2010
  8. ↑ First Americans 'reached Europe five centuries before Columbus voyages', 16 Nov 2010
  9. ↑ Script error: No such module "Citation/CS1".
  10. ↑ Cite error: Invalid <ref> tag; no text was provided for refs named vanOven
  11. ↑ a b c d e f g h i j k l Guang‐Lin He, Meng‐Ge Wang, Xing Zou, Hui‐Yuan Yeh, Chang‐Hui Liu, Chao Liu, Gang Chen, and Chuan‐Chao Wang. Extensive ethnolinguistic diversity at the crossroads of North China and South Siberia reflects multiple sources of genetic diversity[J]. J Syst Evol, 2023, 61(1): 230-250.
  12. ↑ a b c d e f g h i j k l m n o p q r YFull MTree 1.02.7045 (as of January 11, 2021)
  13. ↑ Filipa Simão, Christina Strobl, Carlos Vullo, et al., "The maternal inheritance of Alto Paraná revealed by full mitogenome sequences." FSI Genetics Volume 39, P66-72, March 01, 2019. Published online December 19, 2018. DOI:https://doi.org/10.1016/j.fsigen.2018.12.007
  14. ↑ a b c d e f g Starikovskaya, E.B., Sukernik, R.I., Derbeneva, O.A., Volodko, N.V., Ruiz-Pesini, E., Torroni, A., Brown, M.D., Lott, M.T., Hosseini, S.H., Huoponen, K. and Wallace, D.C., "Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of Native American haplogroups." Annals of Human Genetics 69 (PT 1), 67-89 (2005).
  15. ↑ a b c d Script error: No such module "Citation/CS1".
  16. ↑ a b Template:Cite bioRxiv
  17. ↑ Script error: No such module "Citation/CS1".
  18. ↑ a b c Script error: No such module "Citation/CS1".
  19. ↑ a b c d e f g U.A. Perego, N. Angerhofer, M. Pala, et al., "The initial peopling of the Americas: a growing number of founding mitochondrial genomes from Beringia." Genome Res. 20 (9), 1174-1179 (2010).
  20. ↑ S. Kumar, C. Bellis, M. Zlojutro, et al., "Large scale mitochondrial sequencing in Mexican Americans suggests a reappraisal of Native American origins." BMC Evol. Biol. 11 (1), 293 (2011).
  21. ↑ a b R.S. Malhi, J.S. Cybulski, R.Y. Tito, et al., "Brief communication: Mitochondrial haplotype C4c confirmed as a founding genome in the Americas." Am. J. Phys. Anthropol. 141 (3), 494-497 (2010).
  22. ↑ a b c d e Script error: No such module "Citation/CS1".
  23. ↑ Script error: No such module "Citation/CS1".
  24. ↑ a b c Kilinc, G.M., Kashuba, N., Yaka, R., Sumer, A.P., Yuncu, E., Shergin, D., Ivanov, G.L., Kichigin, D., Pestereva, K., Volkov, D., Mandryka, P., Kharinskii, A., Tishkin, A., Ineshin, E., Kovychev, E., Stepanov, A., Alekseev, A., Fedoseeva, S.A., Somel, M., Jakobsson, M., Krzewinska, M., Stora, J., and Gotherstrom, A., "Investigating Holocene human population history in North Asia using ancient mitogenomes." Sci Rep 8 (1), 8969 (2018)
  25. ↑ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae Dryomov SV, Nazhmidenova AM, Starikovskaya EB, Shalaurova SA, Rohland N, Mallick S, et al. (2021), "Mitochondrial genome diversity on the Central Siberian Plateau with particular reference to the prehistory of northernmost Eurasia." PLoS ONE 16(1):e0244228.https://doi.org/10.1371/journal.pone.0244228
  26. ↑ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag ah ai aj ak al am an ao ap aq ar as at au av aw ax ay az ba bb bc bd be bf Derenko,M., Malyarchuk,B., Grzybowski,T., Denisova,G., Rogalla,U., Perkova,M., Dambueva,I., and Zakharov,I., "Origin and post-glacial dispersal of mitochondrial DNA haplogroups C and D in northern Asia." PLoS ONE 5 (12), E15214 (2010).
  27. ↑ a b c d e f g h i j k Script error: No such module "Citation/CS1".
  28. ↑ Script error: No such module "Citation/CS1".
  29. ↑ Malyarchuk,B., Derenko,M., Denisova,G., et al., "Whole mitochondrial genome diversity in two Hungarian populations." Mol. Genet. Genomics (2018).
  30. ↑ a b c d Script error: No such module "Citation/CS1".
  31. ↑ Script error: No such module "Citation/CS1".
  32. ↑ a b c d e f Script error: No such module "Citation/CS1".
  33. ↑ Dryomov, S.V., Starikovskaya, E.B., Nazhmidenova, A.M. et al. Genetic legacy of cultures indigenous to the Northeast Asian coast in mitochondrial genomes of nearly extinct maritime tribes. BMC Evol Biol 20, 83 (2020). https://doi.org/10.1186/s12862-020-01652-1
  34. ↑ Klunk, J., Duggan, A.T., Redfern, R., et al., "Genetic resiliency and the Black Death: No apparent loss of mitogenomic diversity due to the Black Death in medieval London and Denmark." Am. J. Phys. Anthropol. (2019).
  35. ↑ a b c d e f g h Script error: No such module "Citation/CS1".
  36. ↑ O. A. Derbeneva, E. B. Starikovskaya, N. V. Volodko, D. C. Wallace, and R. I. Sukernik, "Mitochondrial DNA Variation in the Kets and Nganasans and Its Implications for the Initial Peopling of Northern Eurasia." Russian Journal of Genetics, Vol. 38, No. 11, 2002, pp. 1316–1321. Translated from Genetika, Vol. 38, No. 11, 2002, pp. 1554–1560.
  37. ↑ Kristiina Tambets, Bayazit Yunusbayev, Georgi Hudjashov, et al., "Genes reveal traces of common recent demographic history for most of the Uralic-speaking populations." Genome Biology (2018) 19:139. https://doi.org/10.1186/s13059-018-1522-1
  38. ↑ a b Script error: No such module "Citation/CS1".
  39. ↑ Script error: No such module "Citation/CS1".
  40. ↑ FamilyTreeDNA - Cherokee DNA Project. (n.d.). https://www.familytreedna.com/public/CherokeeDNAProject?iframe=mtresults
  41. ↑ Malyarchuk,B., Litvinov,A., Derenko,M., Skonieczna,K., Grzybowski,T., Grosheva,A., Shneider,Y., Rychkov,S. and Zhukova,O., "Mitogenomic diversity in Russians and Poles." Forensic Sci Int Genet 30, 51-56 (2017).
  42. ↑ Jiang,C., Cui,J., Liu,F., Gao,L., Luo,Y., Li,P., Guan,L. and Gao,Y., "Mitochondrial DNA 10609T Promotes Hypoxia-Induced Increase of Intracellular ROS and Is a Risk Factor of High Altitude Polycythemia." PLoS ONE 9 (1), E87775 (2014).
  43. ↑ Fuyun Ji, Mark S. Sharpley, Olga Derbeneva, et al., "Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans." PNAS May 8, 2012 109 (19) 7391-7396; https://doi.org/10.1073/pnas.1202484109.
  44. ↑ Script error: No such module "Citation/CS1".
  45. ↑ Script error: No such module "Citation/CS1".
  46. ↑ Zhang,A.M., Bandelt,H.J., Jia,X., Zhang,W., Li,S., Yu,D., Wang,D., Zhuang,X.Y., Zhang,Q., and Yao,Y.G., "Is Mitochondrial tRNA Variant m.593T>C a Synergistically Pathogenic Mutation in Chinese LHON Families with m.11778G>A?" PLoS ONE 6 (10), E26511 (2011).
  47. ↑ Script error: No such module "Citation/CS1".
  48. ↑ Script error: No such module "citation/CS1".
  49. ↑ Script error: No such module "citation/CS1".
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