Haplogroup C (mtDNA)

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Haplogroup C
Map-of-human-migrations.jpg
Possible time of origin36,473.3 (SD 7392.0) years [1]
Coalescence age27,370 (95% CI 19,550 <-> 35,440) ybp [2]
23,912.2 (SD 4780.8) years [1]
21,700 (95% CI 19,200 <-> 24,400) ybp [3]
Possible place of origin East Asia [4]
Ancestor CZ
DescendantsC1, C4, C5, C7
Defining mutations489 10400 14783 15043 [5]

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

Contents

Origin

Haplogroup C is believed to have arisen in East Asia [4] 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

Frequency distribution of mtDNA haplogroup C in Eurasia Eurasian frequency distributions of mtDNA haplogroups C.png
Frequency distribution of mtDNA haplogroup C in Eurasia
Approximate geographical distribution of the C1 sub-clades. 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 [6] (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. [7] [8] [9] Haplogroup C is one of five mtDNA haplogroups found in the indigenous peoples of the Americas, [6] 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. [10] [11] [12]

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. [13]

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. [14]

Table of Frequencies by ethnic group

PopulationFrequencyCountSourceSubtypes
Evenks (Stony Tunguska)0.76939 Duggan 2013 C4a2=7, C4a1c=6, C4b1=5, C5d1=4, C4b=3, C4b3=3, C4a1c1a=1, C5b1b=1
Evenk 0.71871 Starikovskaya 2005 C(xC1, C5)=41, C5=10
Yukaghir 0.670100 Volodko 2008 C(xC1, C5)=54, C5=13
Evenk (East)0.64445 Derenko 2007 C(xC1, C5)=17, C5=12
Tofalar 0.62158 Derenko 2003 C(xC1, C5)=31, C5=5
Evens (Sebjan)0.55618 Duggan 2013 C4b=6, C4a1c=3, C5b1b=1
Yukaghirs 0.55020 Duggan 2013 C4a1c=4, C4b3a=2, C4b7=2, C4a2=1, C5a2=1, C5d1=1
Yukaghirs (Yakutia)0.54522 Fedorova 2013 C4b3a=5, C5d1=3, C4a1c=1, C4a2=1, C4b1=1, C5a2a=1
Evens (Tompo)0.51927 Duggan 2013 C4a1c=6, C4a2=3, C4b=2, C4b1=2, C5d1=1
Nganasans 0.51339 Volodko 2008 C(xC1, C5)=12, C5=8
Tozhu Tuvans 0.47948 Derenko 2003 C(xC1, C5)=16, C5=7
Evenks (Yakutia)0.472125 Fedorova 2013 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 0.472231[ citation needed ]C(xC1, C5)=88, C5=21
Yakut 0.469254[ citation needed ]C(xC1, C5)=95, C5=24
Evens (Berezovka)0.46715 Duggan 2013 C4b3a=4, C4b=1, C4b1=1, C4b7=1
Evenk (West)0.46673 Derenko 2007 C(xC1, C5)=29, C5=5
Evenks (Taimyr)0.45824 Duggan 2013 C4a1c=5, C4b1=4, C4a1c1a=1, C4a2=1
Yakut (Central)0.457164 Fedorova 2013 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)0.457105 Fedorova 2013 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)0.41346 Fedorova 2013 C4a2=10, C4b1=3, C4a1c=2, C4a1d=1, C4b1a=1, C5a2=1, C7a1c=1
Yakut (Northern)0.405148 Fedorova 2013 C4a1c=17, C4b1=16, C4a2=11, C5b1a=4, C5b1b=4, C4b9=3, C4b=2, C5a1=2, C5d1=1
Koryaks 0.40015 Duggan 2013 C4b=3, C5a2=3
Dolgans 0.390154 Fedorova 2013 C4a1c=33, C4b1=9, C5b1b=5, C4b3a=3, C4a2=2, C4b1a=2, C5b1a=2, C4b8=1, C4b=1, C5d1=1, C7a1c=1
Even 0.377191[ citation needed ]C(xC1, C5)=50, C5=22
Koryak 0.368182[ citation needed ]C(xC1, C5)=39, C5=28
Yakut (Vilyuy)0.360111 Fedorova 2013 C4a1c=14, C4a2=10, C4b=5, C4b1=4, C4b1a=2, C5a2=2, C5b1b=2, C4a1=1
Evens (Kamchatka)0.33339 Duggan 2013 C4b1=6, C4b3a=3, C4a1c=2, C5a2=1, C5d1=1
Altai-Kizhi 0.32290 Derenko 2007 C(xC1, C5)=21, C5=8
Chuvantsi 0.31332 Volodko 2008 C(xC1, C5)=10
Oroqen 0.29544 Kong 2003 C(xC1, C5)=9, C5=4
Teleut 0.28353 Derenko 2007 C(xC1, C5)=11, C5=4
Evens (Sakkyryyr)0.26123 Duggan 2013 C4a1c=2, C4b=2, C4a1d=1, C4b1=1
Udegey 0.22631 Duggan 2013 C4b1=6, C4a1d=1
Mongolian (Ulaanbaatar)0.21347 Jin 2009 C=10
Buryat 0.212419[ citation needed ]C(xC1, C5)=66, C1=3, C5=20
Khakassian 0.208110 Derenko 2003 C(xC1, C5)=28, C5=2
Barghut 0.201149[ citation needed ]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 0.19472 Starikovskaya 2005 C(xC1, C5)=12, C5=2
Altaian 0.191110 Derenko 2003 C(xC1, C5)=21
Evenks (Iengra)0.19021 Duggan 2013 C4a2=2, C4b1=1, C5a2=1
Udege 0.17446 Starikovskaya 2005 C(xC1, C5)=8
Mongolian (Ulaanbaatar)0.17047 Derenko 2007 C4=4, C*(xC1,C4,C5)=3, C5=1
Telenghit 0.16971 Derenko 2007 C(xC1, C5)=10, C5=2
Mongolian 0.153150[ citation needed ]C(xC1, C5)=18, C1=2, C5=3
Negidal 0.15233 Starikovskaya 2005 C(xC1, C5)=3, C5=2
Kyrgyz (Kyzylsu)0.145138[ citation needed ]C=20
Kyrgyz 0.140200[ citation needed ]C(xC1, C5)=18, C1=1, C5=9
Ulch 0.13887[ citation needed ]C(xC1, C5)=6, C1=1, C5=5
Turkmen 0.135178[ citation needed ]C(xC1, C5)=14, C5=10
Chukchi 0.132417[ citation needed ]C(xC1, C5)=27 C5=28
Kazakh (Xinjiang)0.13253 Yao 2004 C(xC1, C5)=5 C5=2
Itelmen 0.13046 Schurr 1999 C5=6
Shor 0.12282 Derenko 2007 C(xC1, C5)=9 C5=1
Orok 0.11561 Bermisheva 2005 C1=7
Kyrgyz (Taxkorgan)0.10368 Peng 2017 C4=6, C5=1
Thai 0.10040 Jin 2009 C=4
Nanai 0.09485 Tamm 2007 C(xC1, C5)=5, C1=1, C5=2
Kazakh 0.086511[ citation needed ]C(xC1, C5)=32, C1=4, C5=8
Mongolian (Inner Mongolia)0.08397[ citation needed ]C(xC1, C5)=5
Altaian (Kazakhstan)0.08298[ citation needed ]C(xC1, C5)=8
Kyrgyz (Artux)0.07454 Peng 2017 C4=4
Tajik 0.07382 Derenko 2007 C(xC1, C5)=6
Sarikoli 0.07086 Peng 2017 C4a1a+A14878G=2, C4a1=2, C4b1=1, C4+T152C!+T4742C+T8602C=1
Daur 0.06645 Kong 2003 C(xC1, C5)=2, C1=1
Uyghur (Xinjiang)0.06447 Yao 2004 C(xC1, C5)=3
Uzbek 0.061130 Quintana-Murci 2004 C(xC1, C5)=6, C5=2
Vietnamese 0.04842 Jin 2009 C=2
Han Chinese 0.0451930[ citation needed ]C(xC1, C5)=72, C5=15
Thai 0.034552[ citation needed ]C(xC1, C5)=19
Korean (mostly Ulsan)0.0301094[ citation needed ]C=33
Manchu 0.02540 Jin 2009 C=1
Korean 0.024694[ citation needed ]C=17
Korean (China)0.02051 Jin 2009 C=1
Korean (Korea)0.016185 Jin 2009 C=3
Korean 0.015537 Tanaka 2004 C5=4, C(xC1,C5)=4
Korean 0.010103 Derenko 2007 C(xC1,C4,C5)=1
Eskimo 0.008254[ citation needed ]C(xC1, C5)=2
Japanese 0.0051312 Tanaka 2004 C1=4, C5=1, C(xC1,C5)=1
Japanese (Tokyo)0.000118 Zheng 2011 -
Ainu 0.00051[ citation needed ]-
Nivkh 0.00038 Duggan 2013 -
Han (Beijing)0.00040 Jin 2009 -
Nivkh 0.00056 Starikovskaya 2005 -

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 [5] and subsequent published research.

See also

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

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References

  1. 1 2 Behar et al., 2012b
  2. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 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).
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  6. 1 2 Haplogroup C.
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