Haplogroup C (mtDNA)

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Haplogroup C
World map of prehistoric 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 originCentral Asia
AncestorCZ
DescendantsC1, C4, C5, C7
Defining mutations489 10400 14783 15043[4]

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

Origin[edit]

Haplogroup C is believed to have arisen somewhere between the Caspian Sea and Lake Baikal 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[edit]

Frequency distribution of mtDNA haplogroup C in Eurasia
Approximate geographical distribution of the C1 sub-clades.

Haplogroup C is found in Northeast Asia[5] (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.[6][7][8] Haplogroup C is one of five mtDNA haplogroups found in the indigenous peoples of the Americas,[5] 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.[9][10][11]

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.[12]

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.[13]

Table of Frequencies by ethnic group[edit]

Population Frequency Count Source Subtypes
Evenks (Stony Tunguska) 0.769 39 Duggan 2013 C4a2=7, C4a1c=6, C4b1=5, C5d1=4, C4b=3, C4b3=3, C4a1c1a=1, C5b1b=1
Evenk 0.718 71 Starikovskaya 2005 C(xC1, C5)=41, C5=10
Yukaghir 0.670 100 Volodko 2008 C(xC1, C5)=54, C5=13
Evenk (East) 0.644 45 Derenko 2007 C(xC1, C5)=17, C5=12
Tofalar 0.621 58 Derenko 2003 C(xC1, C5)=31, C5=5
Evens (Sebjan) 0.556 18 Duggan 2013 C4b=6, C4a1c=3, C5b1b=1
Yukaghirs 0.550 20 Duggan 2013 C4a1c=4, C4b3a=2, C4b7=2, C4a2=1, C5a2=1, C5d1=1
Yukaghirs (Yakutia) 0.545 22 Fedorova 2013 C4b3a=5, C5d1=3, C4a1c=1, C4a2=1, C4b1=1, C5a2a=1
Evens (Tompo) 0.519 27 Duggan 2013 C4a1c=6, C4a2=3, C4b=2, C4b1=2, C5d1=1
Nganasans 0.513 39 Volodko 2008 C(xC1, C5)=12, C5=8
Tozhu Tuvans 0.479 48 Derenko 2003 C(xC1, C5)=16, C5=7
Evenks (Yakutia) 0.472 125 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 0.472 231 Derenko 2000 C(xC1, C5)=88, C5=21
Yakut 0.469 254 Derenko 1997 C(xC1, C5)=95, C5=24
Evens (Berezovka) 0.467 15 Duggan 2013 C4b3a=4, C4b=1, C4b1=1, C4b7=1
Evenk (West) 0.466 73 Derenko 2007 C(xC1, C5)=29, C5=5
Evenks (Taimyr) 0.458 24 Duggan 2013 C4a1c=5, C4b1=4, C4a1c1a=1, C4a2=1
Yakut (Central) 0.457 164 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) 0.457 105 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) 0.413 46 Fedorova 2013 C4a2=10, C4b1=3, C4a1c=2, C4a1d=1, C4b1a=1, C5a2=1, C7a1c=1
Yakut (Northern) 0.405 148 Fedorova 2013 C4a1c=17, C4b1=16, C4a2=11, C5b1a=4, C5b1b=4, C4b9=3, C4b=2, C5a1=2, C5d1=1
Koryaks 0.400 15 Duggan 2013 C4b=3, C5a2=3
Dolgans 0.390 154 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 0.377 191 Derenko 1997 C(xC1, C5)=50, C5=22
Koryak 0.368 182 Derenko 1997 C(xC1, C5)=39, C5=28
Yakut (Vilyuy) 0.360 111 Fedorova 2013 C4a1c=14, C4a2=10, C4b=5, C4b1=4, C4b1a=2, C5a2=2, C5b1b=2, C4a1=1
Evens (Kamchatka) 0.333 39 Duggan 2013 C4b1=6, C4b3a=3, C4a1c=2, C5a2=1, C5d1=1
Altai-Kizhi 0.322 90 Derenko 2007 C(xC1, C5)=21, C5=8
Chuvantsi 0.313 32 Volodko 2008 C(xC1, C5)=10
Oroqen 0.295 44 Kong 2003 C(xC1, C5)=9, C5=4
Teleut 0.283 53 Derenko 2007 C(xC1, C5)=11, C5=4
Evens (Sakkyryyr) 0.261 23 Duggan 2013 C4a1c=2, C4b=2, C4a1d=1, C4b1=1
Udegey 0.226 31 Duggan 2013 C4b1=6, C4a1d=1
Mongolian (Ulaanbaatar) 0.213 47 Jin 2009 C=10
Buryat 0.212 419 Derenko 2000 C(xC1, C5)=66, C1=3, C5=20
Khakassian 0.208 110 Derenko 2003 C(xC1, C5)=28, C5=2
Barghut 0.201 149 Derenko 2012 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 Starikovskaya 2005 C(xC1, C5)=12, C5=2
Altaian 0.191 110 Derenko 2003 C(xC1, C5)=21
Evenks (Iengra) 0.190 21 Duggan 2013 C4a2=2, C4b1=1, C5a2=1
Udege 0.174 46 Starikovskaya 2005 C(xC1, C5)=8
Mongolian (Ulaanbaatar) 0.170 47 Derenko 2007 C4=4, C*(xC1,C4,C5)=3, C5=1
Telenghit 0.169 71 Derenko 2007 C(xC1, C5)=10, C5=2
Mongolian 0.153 150 Kolman 1998 C(xC1, C5)=18, C1=2, C5=3
Negidal 0.152 33 Starikovskaya 2005 C(xC1, C5)=3, C5=2
Kyrgyz (Kyzylsu) 0.145 138 Guo 2020 C=20
Kyrgyz 0.140 200 Comas 1998 C(xC1, C5)=18, C1=1, C5=9
Ulch 0.138 87 Starikovskaya 2005 C(xC1, C5)=6, C1=1, C5=5
Turkmen 0.135 178 Malyarchuk 2002 C(xC1, C5)=14, C5=10
Chukchi 0.132 417 Starikovskaya 1998 C(xC1, C5)=27 C5=28
Kazakh (Xinjiang) 0.132 53 Yao 2004 C(xC1, C5)=5 C5=2
Itelmen 0.130 46 Shchurr 1999 C5=6
Shor 0.122 82 Derenko 2007 C(xC1, C5)=9 C5=1
Orok 0.115 61 Bermisheva 2005 C1=7
Kyrgyz (Taxkorgan) 0.103 68 Peng 2017 C4=6, C5=1
Thai 0.100 40 Jin 2009 C=4
Nanai 0.094 85 Tamm 2007 C(xC1, C5)=5, C1=1, C5=2
Kazakh 0.086 511 Comas 1998 C(xC1, C5)=32, C1=4, C5=8
Mongolian (Inner Mongolia) 0.083 97 Kong 2004 C(xC1, C5)=5
Altaian (Kazakhstan) 0.082 98 Derenko 2009 C(xC1, C5)=8
Kyrgyz (Artux) 0.074 54 Peng 2017 C4=4
Tajik 0.073 82 Derenko 2007 C(xC1, C5)=6
Sarikoli 0.070 86 Peng 2017 C4a1a+A14878G=2, C4a1=2, C4b1=1, C4+T152C!+T4742C+T8602C=1
Daur 0.066 45 Kong 2003 C(xC1, C5)=2, C1=1
Uyghur (Xinjiang) 0.064 47 Yao 2004 C(xC1, C5)=3
Uzbek 0.061 130 Quintana-Murci 2004 C(xC1, C5)=6, C5=2
Vietnamese 0.048 42 Jin 2009 C=2
Han Chinese 0.045 1930 Horai 1996 C(xC1, C5)=72, C5=15
Thai 0.034 552 Matspalu 2004 C(xC1, C5)=19
Korean (mostly Ulsan) 0.030 1094 Jeon 2020 C=33
Manchu 0.025 40 Jin 2009 C=1
Korean 0.024 694 Lee 2006 C=17
Korean (China) 0.020 51 Jin 2009 C=1
Korean (Korea) 0.016 185 Jin 2009 C=3
Korean 0.015 537 Tanaka 2004 C5=4, C(xC1,C5)=4
Korean 0.010 103 Derenko 2007 C(xC1,C4,C5)=1
Eskimo 0.008 254 Starikovskaya 1998 C(xC1, C5)=2
Japanese 0.005 1312 Tanaka 2004 C1=4, C5=1, C(xC1,C5)=1
Japanese (Tokyo) 0.000 118 Zheng 2011 -
Ainu 0.000 51 Horai 1996 -
Nivkh 0.000 38 Duggan 2013 -
Han (Beijing) 0.000 40 Jin 2009 -
Nivkh 0.000 56 Starikovskaya 2005 -

Subclades[edit]

Tree[edit]

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[4] and subsequent published research.

Popular culture[edit]

In his popular book The Seven Daughters of Eve, Bryan Sykes named the originator of this mtDNA haplogroup Chochmingwu.

See also[edit]

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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