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 Script error: No such module "Unsubst". C(xC1, C5)=88, C5=21
Yakut 0.469 254 Script error: No such module "Unsubst". 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 Script error: No such module "Unsubst". C(xC1, C5)=50, C5=22
Koryak 0.368 182 Script error: No such module "Unsubst". 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 Script error: No such module "Unsubst". 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 Script error: No such module "Unsubst". 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 Script error: No such module "Unsubst". 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 Script error: No such module "Unsubst". C=20
Kyrgyz 0.140 200 Script error: No such module "Unsubst". C(xC1, C5)=18, C1=1, C5=9
Ulch 0.138 87 Script error: No such module "Unsubst". C(xC1, C5)=6, C1=1, C5=5
Turkmen 0.135 178 Script error: No such module "Unsubst". C(xC1, C5)=14, C5=10
Chukchi 0.132 417 Script error: No such module "Unsubst". 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 Script error: No such module "Unsubst". C(xC1, C5)=32, C1=4, C5=8
Mongolian (Inner Mongolia) 0.083 97 Script error: No such module "Unsubst". C(xC1, C5)=5
Altaian (Kazakhstan) 0.082 98 Script error: No such module "Unsubst". 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 Script error: No such module "Unsubst". C(xC1, C5)=72, C5=15
Thai 0.034 552 Script error: No such module "Unsubst". C(xC1, C5)=19
Korean (mostly Ulsan) 0.030 1094 Script error: No such module "Unsubst". C=33
Manchu 0.025 40 Script error: No such module "Footnotes". C=1
Korean 0.024 694 Script error: No such module "Unsubst". 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 Script error: No such module "Unsubst". 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 Script error: No such module "Unsubst". -
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.

  • CZ
    • C - China (Mongol from Chifeng[11]), Korea, Russia (Bashkortostan[12]), India
      • C1 - Paraguay (Alto Parana[13]), ancient DNA from specimen I0061 (from Yuzhniy Oleni Ostrov, Lake Onega, Russia, 7450 - 6950 ybp)
      • C4 – Upper Palaeolithic (14050 - 13770 ybp) Ust-Kyakhta (Buryatia), Late Neolithic-Bronze Age Irkutsk Oblast,[24] Late Neolithic-Iron Age Yakutia,[24] Tubalar (Ederbes), Todzhin (Toora-Hem,[25] Iiy,[25] Adir-Kezhig[25]), Yukaghir (Andrushkino[25]), Yukaghir/Chuvan (Markovo[25]), Russian,[26] Myanmar
        • C4a'b'c - Irkutsk Oblast (6815 ybp[12]), India (Jenu Kuruba[27])
          • C4a – China (Guangdong,[12] Han from Beijing)
            • C4a1 – Mongol from Chifeng and Hulunbuir,[11] Tashkurgan (Kyrgyz, Sarikoli, Wakhi),[22] Czech Republic,Script error: No such module "Unsubst". DenmarkScript error: No such module "Unsubst".
              • C4a1a – Korea,[12] China, Uyghur, Buryat (South Siberia[26]), Denmark, Sweden, France, Scotland, Canada
                • C4a1a1
                  • C4a1a1a
                    • C4a1a1a1 - Lepcha,[27] Sherpa (Nepal)Script error: No such module "Unsubst".
                    • C4a1a1a2 - Lachungpa[27]
                    • C4a1a1a3 - Wancho[27]
                  • C4a1a1b - Poland,[28] Finland (Hamina)
                • C-T195C! – Ireland, Scotland, England, USA, Hungary (Szeged region[29]), Poland, Belarus,Script error: No such module "Unsubst". Russia (Russian,[26] Buryat), Turkey, Pakistan (Hazara), India (Jammu and Kashmir), China (Bargut and Mongol in Inner Mongolia, etc.), Korea
                  • C4a1a2 – China
                    • C4a1a2a – China (Han from Ili, Han from Henan, etc.)
                    • C4a1a2b
                      • C4a1a2b1 - China
                      • C4a1a2b2 - Uyghur
                  • C4a1a3 – Bronze Age Irkutsk Oblast (Ust'-Belaya, Khaptsagai, Silinskij, Chastaja Padi), Russian (Kemerovo Oblast[12]), Koryak,[25] Yukaghir,[3][4] Yakut,[4] Evenk (Nyukzha,[4] Chumikan,[25] Nelkan/Dzhigda[25]), Even (Sakkyryyr,[4] Sebjan,[4] Tompo,[4] Markovo,[25] Kamchatka[4]), Udinsk Buryat (Kushun[25]), Todzhin (Toora-Hem,[25] Adir-Kezhig[25]), Altai Kizhi,[26] Iran (Qashqai[30]), Sweden
                    • C4a1a3a – Yakut,[4] Buryat[26] (Buryat Republic,Script error: No such module "Unsubst". Irkutsk OblastScript error: No such module "Unsubst".), Bargut,[26] Nentsi[31]
                      • C4a1a3a1 – Yakut,[4] Nganasan (Vadei of Taimyr Peninsula[3])
                    • C4a1a3b – Bargut,[26] Uyghur
                      • C4a1a3b1 - Chelkan, Tubalar[3]
                    • C4a1a3c – Evenk (Taimyr Peninsula,[4] Stony Tunguska[4])
                    • C4a1a3d – Yakut[4]
                  • C4a1a4 – Buryat,[26] Kazakhstan
                    • C4a1a4a – Evenk (Okhotsk region),[3] Shor[26]
                • C4a1a5 – Teleut,[26] Ladakh
                • C4a1a6
                  • C4a1a6a - Russia (Bashkortostan, Khamnigan[26]), Kyrgyzstan (Kyrgyz[18]), Inner Mongolia (Bargut,[26] BuryatScript error: No such module "Unsubst".)
                  • C4a1a6b - Buryat (South Siberia,[26] Inner MongoliaScript error: No such module "Unsubst".), Uyghur
                • C4a1a7 - Denmark[34]
              • C4a1b – China, Thailand (Palaung[35])
              • C4a1c - Russia (Bashkortostan,Script error: No such module "Unsubst". Adygei), Iran (Azerbaijanian[30]), China (Xibo, Mongol from Tianjin[11])
            • C4a2
          • C4b – Mongol from Jilin and Hulunbuir,[11] Yukaghir,[3] Altai Kizhi,[26] Ukraine, Slovakia
          • C4c – Ijka[39]
            • C4c1 – Sioux (Carson County of South Dakota),Script error: No such module "Unsubst". Shuswap,[21] Canada, USA, France, Spain
              • C4c1a – Cherokee (Flint District of Oklahoma)[40]
              • C4c1b – Chippewa (Trempealeau in Wisconsin),Script error: No such module "Unsubst". Ottawa or Chippewa (Sault Saint Marie, Chippewa County, Michigan),Script error: No such module "Unsubst". Canada
            • C4c2 – Métis (Red River, Manitoba),Script error: No such module "Unsubst". USA
        • C4-T152C! – Russia (Bashkortostan[12]), EnglandScript error: No such module "Unsubst".
      • C5 – India
      • C7 – South Korea,[26] China,[42] Taiwan (Hakka), Thailand (Khon Mueang in Chiang Rai Province, Chiang Mai Province, and Lamphun Province[35]), Vietnam (Kinh, Tay, Jarai)

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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  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".
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  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).
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Bibliography

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External links