Haplogroup C (mtDNA)

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

This article is about the human mtDNA haplogroup. For the human Y-DNA haplogroup, see Haplogroup C-M130.
Haplogroup C
Possible time of origin25,300 (95% CI 20,300 <-> 31,200) years before present
Coalescence age17,600 (95% CI 15,500 <-> 19,900) years before present
Possible place of originCentral Asia
AncestorCZ
DescendantsC1, C4, C5, C7
Defining mutations489 10400 14783 15043[1]

Origin

Haplogroup C is believed to have arisen somewhere between the Caspian Sea and Lake Baikal some 24,000 years BCE. It is a descendant of the haplogroup M.

Distribution
Frequency distribution of mtDNA haplogroup C in Eurasia
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 know 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.[10]

Table of Frequencies by ethnic group
Population Frequency Count Source Subtypes
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
Tuvans0.472231Derenko 2000C(xC1, C5)=88, C5=21
Yakut0.469254Derenko 1997C(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
Even0.377191Derenko 1997C(xC1, C5)=50, C5=22
Koryak0.368182Derenko 1997C(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
Buryat0.212419Derenko 2000C(xC1, C5)=66, C1=3, C5=20
Khakassian0.208110Derenko 2003C(xC1, C5)=28, C5=2
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
Telenghit0.16971Derenko 2007C(xC1, C5)=10, C5=2
Mongolian0.153150Kolman 1998C(xC1, C5)=18, C1=2, C5=3
Negidal0.15233Starikovskaya 2005C(xC1, C5)=3, C5=2
Kyrgyz0.140200Comas 1998C(xC1, C5)=18, C1=1, C5=9
Ulch0.13887Starikovskaya 2005C(xC1, C5)=6, C1=1, C5=5
Turkmen0.135178Malyarchuk 2002C(xC1, C5)=14, C5=10
Chukchi0.132417Starikovskaya 1998C(xC1, C5)=27 C5=28
Kazakh (Xinjiang)0.13253Yao 2004C(xC1, C5)=5 C5=2
Itelmen0.13046Shchurr 1999C5=6
Shor0.12282Derenko 2007C(xC1, C5)=9 C5=1
Orok0.11561Bermisheva 2005C1=7
Nanai0.09485Tamm 2007C(xC1, C5)=5, C1=1, C5=2
Kazakh0.086511Comas 1998C(xC1, C5)=32, C1=4, C5=8
Mongolian (Inner Mongolia)0.08397Kong 2004C(xC1, C5)=5
Altaian (Kazakhstan)0.08298Derenko 2009C(xC1, C5)=8
Tajik0.07382Derenko 2007C(xC1, C5)=6
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
Han Chinese0.0451930Horai 1996C(xC1, C5)=72, C5=15
Thai0.034552Matspalu 2004C(xC1, C5)=19
Korean0.0201297Horai 1996-
Eskimo0.008254Starikovskaya 1998C(xC1, C5)=2
Japanese0.0051312Tanaka 2004C(xC1, C5)=1, C1=4, C5=1
Ainu0.00051Horai 1996-
Nivkh0.00038Duggan 2013-
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[1] and subsequent published research.

  • CZ
    • C
      • C1
        • C1a
        • C1b
          • C1b*
          • C1b1
            • C1b1*
            • C1b1a
              • C1b1a* - Mexican American
              • C1b1a1 - Mexican American
            • C1b1b - Native American, Mexican American
          • C1b2
            • C1b2* - Peru, Paraguay
            • C1b2a - Peru
            • C1b2b - Colombia
            • C1b2c
              • C1b2c* - USA, Puerto Rico, Paraguay, Spain
              • C1b2c1 - Paraguay
          • C1b3
            • C1b3* - Peru
            • C1b3a
              • C1b3a* - Peru
              • C1b3a1 - Argentina
          • C1b4 - Ecuador, Peru, USA
          • C1b5
        • C1c
          • C1c1
          • C1c2
        • C1d
          • C1d2
            • C1d2a
        • C1e - Iceland
        • C1f - Scotland, Italy, Mesolithic NW Russia
        • C1g - Mesolithic NW Russia (Karelia)[16]
      • C2 - Pamiri Tajik (Gorno-Badakhshan, Tajikistan),[17] India (Hindu Marathi, etc.)
      • C4 - Russian,[18] Myanmar
        • C4a'b'c
          • C4a - China (Han from Beijing)
            • C4a1 - Iran (Azeri),[19] Bashkortostan,[20] Kyrgyz (Tashkurgan),[17] Sarikoli (Tashkurgan),[17] Wakhi (Tashkurgan),[17] Czech Republic, Denmark
              • C4a1a - Uyghur, Buryat,[18] Denmark, Sweden, France, Scotland, Canada
                • C4a1a1 - Pole (Kashubia)[21]
                • C-T195C! - Ireland, Scotland, England, USA, Poland, Russian,[18] Turkey, India, Mongol (Inner Mongolia)
                  • C4a1a2 - China
                    • C4a1a2a - China (Han from Ili, Han from Hunan)
                  • C4a1a3 - Sweden, Altai Kizhi,[18] Evenk (Taimyr Peninsula)[4]
                    • C4a1a3a - Buryat,[18] Bargut[18]
                      • C4a1a3a1 - Nganasan (Vadei of Taimyr Peninsula),[3] Tofalar[11]
                    • C4a1a3b - Tubalar,[3] Bargut[18]
                    • C4a1a3c - Evenk (Taimyr Peninsula,[4] Stony Tunguska[4])
                    • C4a1a3d - Yakut[4]
                  • C4a1a4 - Buryat,[18] Kazakhstan
                    • C4a1a4a - Evenk (Okhotsk region),[3] Shor[18]
                • C4a1a5 - Teleut,[18] Ladakh
                • C4a1a6 - Buryat,[18] Bargut (Inner Mongolia)[18]
              • C4a1b - China
            • C4a2
              • C4a2a - Yakut[4]
                • C4a2a1 - Yakut,[12] Evenk (Stony Tunguska),[4] China, Korea
              • C4a2b - Tibet
                • C4a2b1 - Wancho[22]
                • C4a2b2 - China (Han from Beijing)
                  • C4a2b2a - Tibet (Sherpa)[24]
              • C4a2c - Bargut (Inner Mongolia)[18]
                • C4a2c1 - India (Jenu Kuruba)[22]
                • C4a2c2 - Lepcha[22]
                  • C4a2c2a - Ladakh
          • C4b - Yukaghir,[3] Altai Kizhi,[18] Ukraine, Slovakia
            • C4b1 - Yukaghir,[3] Buryat[18]
              • C4b1a - Bargut (Inner Mongolia)[18]
              • C4b1b - Evenk (Stony Tunguska),[4] Buryat[18]
            • C4b2 - Koryak[4]
            • C4b3 - Yakut,[4] Altai Kizhi[18]
              • C4b3a - Yukaghir,[3] Even (Berezovka)[4]
                • C4b3a1 - Yukaghir[3]
              • C4b3b - Buryat,[23] Evenk (Stony Tunguska)[4]
            • C4b5 - Khamnigan,[18] Buryat[18]
            • C4b6 - Altai Kizhi,[18] Tubalar[3]
            • C4b7 - Yukaghir[3]
            • C4b8 - Yakut[4]
          • C4c - Ijka[25]
            • C4c1 - Sioux (Carson County of South Dakota),[26] Shuswap,[27] Canada, USA, France, Spain
              • C4c1a - Cherokee (Flint District of Oklahoma)[26]
              • C4c1b - Chippewa (Trempealeau in Wisconsin),[26] Ottawa or Chippewa (Sault Saint Marie, Chippewa County, Michigan),[26] Canada
            • C4c2 - Métis (Red River, Manitoba),[26] USA
        • C4-T152C! - England, Burusho,[13] Pamiri (Gorno-Badakhshan Autonomous Region of Tajikistan),[17] Sarikoli (Tashkurgan),[17] Uyghur
          • C4-T16093C - Tibet, Kyrgyzstan[15]
            • C4d - Turkey, Tibet, Thailand (Khon Mueang from Chiang Mai Province[28]), Han from Beijing
          • C4e - Teleut,[18] Shor[18]
      • C5 - India
        • C5a - Azeri
          • C5a1 - Bargut (Inner Mongolia),[18] Buryat, Khamnigan,[18] Ulchi,[11] Even (Severo-Evensk District),[18] Altai Kizhi,[18] Yakut, Uyghur, Kazakhstan, Khanty
          • C5a2
            • C5a2a - Evenk (Iengra River basin),[4] Buryat,[18] Turkey
            • C5a2b - Yukaghir,[3] Koryak,[18] Chukchi
        • C5b - Poland[18]
          • C5b1 - Buryat,[18] Uyghur, Ladakh, Japan
            • C5b1a - Altai Kizhi,[18] Evenk (Central Siberia)[18]
            • C5b1b - Buryat,[18] Bulgaria
        • C5-T16093C - Japan (Aichi), Han (Beijing)
          • C5c - Tubalar,[3] Teleut,[18] Afghanistan, Persian (Iran),[19] Czech Republic
            • C5c-C16234T - Kurd (Iran),[19] Armenia, Turkey, Kuwait
              • C5c1 - Poland,[18] Sweden, Greece
                • C5c1a - Russian (Uzbekistan), Ukraine, Lithuania, Poland,[18] Slovakia, Austria, Germany, England, Scotland, Ireland, Italy, USA, Canada
          • C5d - China, Vietnam (Hmong)
      • C7 - South Korea (Seoul),[18] China,[30] Taiwan (Hakka), Thailand (Khon Mueang in Chiang Rai Province, Chiang Mai Province, and Lamphun Province[28]), Vietnam (Kinh, Tay, Jarai)
        • C7a - Han (Beijing, Yunnan, Denver, etc.),[31] Uyghur, Taiwan (Paiwan, Minnan), Lahu, Thailand (incl. Urak Lawoi, Lao Isan in Chaiyaphum Province, Khon Mueang in Lamphun Province, Khon Mueang in Lampang Province, Kaleun in Nakhon Phanom Province, Black Tai in Loei Province, Phuan in Suphan Buri Province[28]), Vietnam (Hani, Yao, Gelao)
          • C7a1 - Thailand (Mon in Kanchanaburi Province, Khon Mueang in Mae Hong Son Province, Khon Mueang in Chiang Rai Province[28]), Vietnam (Nung), Han (Denver, etc.), Taiwan (Makatao), Korea
            • C7a1a
              • C7a1a1 - Wancho,[22] Thailand (Mon in Lopburi Province[28])
              • C7a1a2 - Dirang Monpa[22]
            • C7a1c - Evenk (Central Siberia,[18] Nyukzha River basin,[4] Okhotsk region[3]), Uyghur, Han (Fengcheng,[32] Taixing, etc.), Taiwan, Vietnam
            • C7a1d - Wancho[22]
          • C7a2 - China,[33] Dai, Laos (Lao in Luang Prabang[28]), Thailand (Khon Mueang in Chiang Mai Province, Khon Mueang in Chiang Rai Province, Lao Isan in Roi Et Province, Phutai in Sakon Nakhon Province, Mon in Nakhon Ratchasima Province[28]), Myanmar (Yangon)
            • C7a2a - China (Shantou, etc.),[34] Taiwan (Hakka, Makatao, etc.)
        • C7-A16051G - Bargut (Inner Mongolia)[18]
          • C7b - Gallong,[22] Naxi, Ukraine, Moldova, Austria
        • C7c - Taiwan (Hakka), Thailand (Khon Mueang in Mae Hong Son Province, Lao Isan in Roi Et Province, Siamese in Central Thailand), Cambodia (Kampong Cham)
        • C7d - Thailand (Khmer in Surin Province), Cambodia (Takéo)

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

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

References
  1. van Oven, Mannis; Manfred Kayser (13 Oct 2008). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation. 30 (2): E386–E394. doi:10.1002/humu.20921. PMID 18853457. Archived from the original on 4 December 2012. Retrieved 2009-05-20.
  2. Haplogroup C.
  3. Volodko, Natalia V.; Starikovskaya, Elena B.; Mazunin, Ilya O.; et al. (2008). "Mitochondrial Genome Diversity in Arctic Siberians, with Particular Reference to the Evolutionary History of Beringia and Pleistocenic Peopling of the Americas". The American Journal of Human Genetics. 82 (5): 1084–1100. doi:10.1016/j.ajhg.2008.03.019. PMC 2427195. PMID 18452887.
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  8. First Americans 'reached Europe five centuries before Columbus voyages', 16 Nov 2010
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