Haplogroup C (mtDNA)

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

Haplogroup C
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 originEast Asia[4]
AncestorCZ
DescendantsC1, C4, C5, C7
Defining mutations489 10400 14783 15043[5]

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
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)0.76939Duggan 2013C4a2=7, C4a1c=6, C4b1=5, C5d1=4, C4b=3, C4b3=3, C4a1c1a=1, C5b1b=1
Evenk0.71871Starikovskaya 2005C(xC1, C5)=41, C5=10
Yukaghir0.670100Volodko 2008C(xC1, C5)=54, C5=13
Evenk (East)0.64445Derenko 2007C(xC1, C5)=17, C5=12
Tofalar0.62158Derenko 2003C(xC1, C5)=31, C5=5
Evens (Sebjan)0.55618Duggan 2013C4b=6, C4a1c=3, C5b1b=1
Yukaghirs0.55020Duggan 2013C4a1c=4, C4b3a=2, C4b7=2, C4a2=1, C5a2=1, C5d1=1
Yukaghirs (Yakutia)0.54522Fedorova 2013C4b3a=5, C5d1=3, C4a1c=1, C4a2=1, C4b1=1, C5a2a=1
Evens (Tompo)0.51927Duggan 2013C4a1c=6, C4a2=3, C4b=2, C4b1=2, C5d1=1
Nganasans0.51339Volodko 2008C(xC1, C5)=12, C5=8
Tozhu Tuvans0.47948Derenko 2003C(xC1, C5)=16, C5=7
Evenks (Yakutia)0.472125Fedorova 2013C4b1=13, C4a1c=11, C4b9=9, C4a2=8, C4b=5, C5b1b=4, C5a2=3, C5d1=2, C4a1=1, C4a1d=1, C4b3a=1, C5a1=1
Tuvans0.472231[citation needed]C(xC1, C5)=88, C5=21
Yakut0.469254[citation needed]C(xC1, C5)=95, C5=24
Evens (Berezovka)0.46715Duggan 2013C4b3a=4, C4b=1, C4b1=1, C4b7=1
Evenk (West)0.46673Derenko 2007C(xC1, C5)=29, C5=5
Evenks (Taimyr)0.45824Duggan 2013C4a1c=5, C4b1=4, C4a1c1a=1, C4a2=1
Yakut (Central)0.457164Fedorova 2013C4a1c=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)0.457105Fedorova 2013C4a1c=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)0.41346Fedorova 2013C4a2=10, C4b1=3, C4a1c=2, C4a1d=1, C4b1a=1, C5a2=1, C7a1c=1
Yakut (Northern)0.405148Fedorova 2013C4a1c=17, C4b1=16, C4a2=11, C5b1a=4, C5b1b=4, C4b9=3, C4b=2, C5a1=2, C5d1=1
Koryaks0.40015Duggan 2013C4b=3, C5a2=3
Dolgans0.390154Fedorova 2013C4a1c=33, C4b1=9, C5b1b=5, C4b3a=3, C4a2=2, C4b1a=2, C5b1a=2, C4b8=1, C4b=1, C5d1=1, C7a1c=1
Even0.377191[citation needed]C(xC1, C5)=50, C5=22
Koryak0.368182[citation needed]C(xC1, C5)=39, C5=28
Yakut (Vilyuy)0.360111Fedorova 2013C4a1c=14, C4a2=10, C4b=5, C4b1=4, C4b1a=2, C5a2=2, C5b1b=2, C4a1=1
Evens (Kamchatka)0.33339Duggan 2013C4b1=6, C4b3a=3, C4a1c=2, C5a2=1, C5d1=1
Altai-Kizhi0.32290Derenko 2007C(xC1, C5)=21, C5=8
Chuvantsi0.31332Volodko 2008C(xC1, C5)=10
Oroqen0.29544Kong 2003C(xC1, C5)=9, C5=4
Teleut0.28353Derenko 2007C(xC1, C5)=11, C5=4
Evens (Sakkyryyr)0.26123Duggan 2013C4a1c=2, C4b=2, C4a1d=1, C4b1=1
Udegey0.22631Duggan 2013C4b1=6, C4a1d=1
Mongolian (Ulaanbaatar)0.21347Jin 2009C=10
Buryat0.212419[citation needed]C(xC1, C5)=66, C1=3, C5=20
Khakassian0.208110Derenko 2003C(xC1, C5)=28, C5=2
Barghut0.201149[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
Tubalar0.19472Starikovskaya 2005C(xC1, C5)=12, C5=2
Altaian0.191110Derenko 2003C(xC1, C5)=21
Evenks (Iengra)0.19021Duggan 2013C4a2=2, C4b1=1, C5a2=1
Udege0.17446Starikovskaya 2005C(xC1, C5)=8
Mongolian (Ulaanbaatar)0.17047Derenko 2007C4=4, C*(xC1,C4,C5)=3, C5=1
Telenghit0.16971Derenko 2007C(xC1, C5)=10, C5=2
Mongolian0.153150[citation needed]C(xC1, C5)=18, C1=2, C5=3
Negidal0.15233Starikovskaya 2005C(xC1, C5)=3, C5=2
Kyrgyz (Kyzylsu)0.145138[citation needed]C=20
Kyrgyz0.140200[citation needed]C(xC1, C5)=18, C1=1, C5=9
Ulch0.13887[citation needed]C(xC1, C5)=6, C1=1, C5=5
Turkmen0.135178[citation needed]C(xC1, C5)=14, C5=10
Chukchi0.132417[citation needed]C(xC1, C5)=27 C5=28
Kazakh (Xinjiang)0.13253Yao 2004C(xC1, C5)=5 C5=2
Itelmen0.13046Schurr 1999C5=6
Shor0.12282Derenko 2007C(xC1, C5)=9 C5=1
Orok0.11561Bermisheva 2005C1=7
Kyrgyz (Taxkorgan)0.10368Peng 2017C4=6, C5=1
Thai0.10040Jin 2009C=4
Nanai0.09485Tamm 2007C(xC1, C5)=5, C1=1, C5=2
Kazakh0.086511[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)0.07454Peng 2017C4=4
Tajik0.07382Derenko 2007C(xC1, C5)=6
Sarikoli0.07086Peng 2017C4a1a+A14878G=2, C4a1=2, C4b1=1, C4+T152C!+T4742C+T8602C=1
Daur0.06645Kong 2003C(xC1, C5)=2, C1=1
Uyghur (Xinjiang)0.06447Yao 2004C(xC1, C5)=3
Uzbek0.061130Quintana-Murci 2004C(xC1, C5)=6, C5=2
Vietnamese0.04842Jin 2009C=2
Han Chinese0.0451930[citation needed]C(xC1, C5)=72, C5=15
Thai0.034552[citation needed]C(xC1, C5)=19
Korean (mostly Ulsan)0.0301094[citation needed]C=33
Manchu0.02540Jin 2009C=1
Korean0.024694[citation needed]C=17
Korean (China)0.02051Jin 2009C=1
Korean (Korea)0.016185Jin 2009C=3
Korean0.015537Tanaka 2004C5=4, C(xC1,C5)=4
Korean0.010103Derenko 2007C(xC1,C4,C5)=1
Eskimo0.008254[citation needed]C(xC1, C5)=2
Japanese0.0051312Tanaka 2004C1=4, C5=1, C(xC1,C5)=1
Japanese (Tokyo)0.000118Zheng 2011-
Ainu0.00051[citation needed]-
Nivkh0.00038Duggan 2013-
Han (Beijing)0.00040Jin 2009-
Nivkh0.00056Starikovskaya 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.

Popular culture

See also

Phylogenetic tree of human mitochondrial DNA (mtDNA) haplogroups

 Mitochondrial Eve (L)  
L0L1–6 
L1L2 L3  L4L5L6
MN 
CZDEGQ OASR IWXY
CZBFR0 pre-JT P U
HVJTK
HVJT

References

Bibliography

External links