Haplogroup C (mtDNA)

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

Origin

Haplogroup C is believed to have arisen in East Asia 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

Haplogroup C is found in Northeast AsiaHaplogroup C. (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. Haplogroup C is one of five mtDNA haplogroups found in the indigenous peoples of the Americas, 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.Vikings brought Amerindian to Iceland 1,000 years ago: study, November 17, 2010First Americans 'reached Europe five centuries before Columbus voyages', 16 Nov 2010

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.

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.

Table of Frequencies by ethnic group PopulationFrequencyCountSourceSubtypesEvenks (Stony Tunguska)0.76939C4a2=7, C4a1c=6, C4b1=5, C5d1=4, C4b=3, C4b3=3, C4a1c1a=1, C5b1b=1Evenk0.71871C(xC1, C5)=41, C5=10Yukaghir0.670100C(xC1, C5)=54, C5=13Evenk (East)0.64445C(xC1, C5)=17, C5=12Tofalar0.62158C(xC1, C5)=31, C5=5Evens (Sebjan)0.55618C4b=6, C4a1c=3, C5b1b=1Yukaghirs0.55020C4a1c=4, C4b3a=2, C4b7=2, C4a2=1, C5a2=1, C5d1=1Yukaghirs (Yakutia)0.54522C4b3a=5, C5d1=3, C4a1c=1, C4a2=1, C4b1=1, C5a2a=1Evens (Tompo)0.51927C4a1c=6, C4a2=3, C4b=2, C4b1=2, C5d1=1Nganasans0.51339C(xC1, C5)=12, C5=8Tozhu Tuvans0.47948C(xC1, C5)=16, C5=7Evenks (Yakutia)0.472125C4b1=13, C4a1c=11, C4b9=9, C4a2=8, C4b=5, C5b1b=4, C5a2=3, C5d1=2, C4a1=1, C4a1d=1, C4b3a=1, C5a1=1Tuvans0.472231C(xC1, C5)=88, C5=21Yakut0.469254C(xC1, C5)=95, C5=24Evens (Berezovka)0.46715C4b3a=4, C4b=1, C4b1=1, C4b7=1Evenk (West)0.46673C(xC1, C5)=29, C5=5Evenks (Taimyr)0.45824C4a1c=5, C4b1=4, C4a1c1a=1, C4a2=1Yakut (Central)0.457164C4a1c=16, C4a2=14, C5b1b=13, C4b1=8, C4a1d=7, C4b=4, C4b1a=3, C5a1=3, C4a1=2, C5b1a=2, C4b3a=1, C5a2=1, C7a1c=1Evens (Yakutia)0.457105C4a1c=15, C5d1=11, C4a2=4, C4b3a=3, C4b1=2, C4b7=2, C4b9=2, C4b=2, C5a1=2, C7a1c=2, C4b1a=1, C4b2=1, C5a2a=1Evenks (Nyukzha)0.41346C4a2=10, C4b1=3, C4a1c=2, C4a1d=1, C4b1a=1, C5a2=1, C7a1c=1Yakut (Northern)0.405148C4a1c=17, C4b1=16, C4a2=11, C5b1a=4, C5b1b=4, C4b9=3, C4b=2, C5a1=2, C5d1=1Koryaks0.40015C4b=3, C5a2=3Dolgans0.390154C4a1c=33, C4b1=9, C5b1b=5, C4b3a=3, C4a2=2, C4b1a=2, C5b1a=2, C4b8=1, C4b=1, C5d1=1, C7a1c=1Even0.377191C(xC1, C5)=50, C5=22Koryak0.368182C(xC1, C5)=39, C5=28Yakut (Vilyuy)0.360111C4a1c=14, C4a2=10, C4b=5, C4b1=4, C4b1a=2, C5a2=2, C5b1b=2, C4a1=1Evens (Kamchatka)0.33339C4b1=6, C4b3a=3, C4a1c=2, C5a2=1, C5d1=1Altai-Kizhi0.32290C(xC1, C5)=21, C5=8Chuvantsi0.31332C(xC1, C5)=10Oroqen0.29544C(xC1, C5)=9, C5=4Teleut0.28353C(xC1, C5)=11, C5=4Evens (Sakkyryyr)0.26123C4a1c=2, C4b=2, C4a1d=1, C4b1=1Udegey0.22631C4b1=6, C4a1d=1Mongolian (Ulaanbaatar)0.21347C=10Buryat0.212419C(xC1, C5)=66, C1=3, C5=20Khakassian0.208110C(xC1, C5)=28, C5=2Barghut0.201149C4a1a1=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=1Tubalar0.19472C(xC1, C5)=12, C5=2Altaian0.191110C(xC1, C5)=21Evenks (Iengra)0.19021C4a2=2, C4b1=1, C5a2=1Udege0.17446C(xC1, C5)=8Mongolian (Ulaanbaatar)0.17047C4=4, C*(xC1,C4,C5)=3, C5=1Telenghit0.16971C(xC1, C5)=10, C5=2Mongolian0.153150C(xC1, C5)=18, C1=2, C5=3Negidal0.15233C(xC1, C5)=3, C5=2Kyrgyz (Kyzylsu)0.145138C=20Kyrgyz0.140200C(xC1, C5)=18, C1=1, C5=9Ulch0.13887C(xC1, C5)=6, C1=1, C5=5Turkmen0.135178C(xC1, C5)=14, C5=10Chukchi0.132417C(xC1, C5)=27 C5=28Kazakh (Xinjiang)0.13253C(xC1, C5)=5 C5=2Itelmen0.13046C5=6Shor0.12282C(xC1, C5)=9 C5=1Orok0.11561C1=7Kyrgyz (Taxkorgan)0.10368C4=6, C5=1Thai0.10040C=4Nanai0.09485C(xC1, C5)=5, C1=1, C5=2Kazakh0.086511C(xC1, C5)=32, C1=4, C5=8Jetisu Kazakhstan0.085200C4=11, C5=5, C7=1Mongolian (Inner Mongolia)0.08397C(xC1, C5)=5Altaian (Kazakhstan)0.08298C(xC1, C5)=8Kyrgyz (Artux)0.07454C4=4Tajik0.07382C(xC1, C5)=6Sarikoli0.07086C4a1a+A14878G=2, C4a1=2, C4b1=1, C4+T152C!+T4742C+T8602C=1Daur0.06645C(xC1, C5)=2, C1=1Uyghur (Xinjiang)0.06447C(xC1, C5)=3Uzbek0.061130C(xC1, C5)=6, C5=2Vietnamese0.04842C=2Han Chinese0.0451930C(xC1, C5)=72, C5=15Thai0.034552C(xC1, C5)=19Korean (mostly Ulsan)0.0301094C=33Manchu0.02540C=1Korean0.024694C=17Korean (China)0.02051C=1Korean (Korea)0.016185C=3Korean0.015537C5=4, C(xC1,C5)=4Korean0.010103C(xC1,C4,C5)=1Eskimo0.008254C(xC1, C5)=2Japanese0.0051312C1=4, C5=1, C(xC1,C5)=1Japanese (Tokyo)0.000118 -Ainu0.00051 -Nivkh0.00038 -Han (Beijing)0.00040 -Nivkh0.00056 -

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 and subsequent published research.

CZ C - China (Mongol from Chifeng), Korea, Russia (Bashkortostan), India C1 - Paraguay (Alto Parana), ancient DNA from specimen I0061 (from Yuzhniy Oleni Ostrov, Lake Onega, Russia, 7450 - 6950 ybp) C1a C1a* – Ulchi,Starikovskaya, E.B., Sukernik, R.I., Derbeneva, O.A., Volodko, N.V., Ruiz-Pesini, E., Torroni, A., Brown, M.D., Lott, M.T., Hosseini, S.H., Huoponen, K. and Wallace, D.C., "Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of Native American haplogroups." Annals of Human Genetics 69 (PT 1), 67-89 (2005). Nanai, Daur, Mongol (HulunbuirGuang‐Lin He, Meng‐Ge Wang, Xing Zou, Hui‐Yuan Yeh, Chang‐Hui Liu, Chao Liu, Gang Chen, and Chuan‐Chao Wang. Extensive ethnolinguistic diversity at the crossroads of North China and South Siberia reflects multiple sources of genetic diversity[J]. J Syst Evol, 2023, 61(1): 230-250.) C1a1 – Buryat, Kyrgyz (Kyrgyzstan) C1a2 – Japan 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 - Indonesia (Java, Borneo, Sumatera, Papua Nugini dan Sulawesi) C1b3a* – Peru C1b3a1 – Argentina C1b4 – Ecuador, Peru, USA C1b5 C1c C1c1 C1c2 C1d – Argentina (Buenos Aires), Colombia (Boyacá), Mexico (Tamaulipas, Guanajuato, Chihuahua, etc.), United States (Mexican AmericansS. Kumar, C. Bellis, M. Zlojutro, et al., "Large scale mitochondrial sequencing in Mexican Americans suggests a reappraisal of Native American origins." BMC Evol. Biol. 11 (1), 293 (2011).), Canada (ShuswapR.S. Malhi, J.S. Cybulski, R.Y. Tito, et al., "Brief communication: Mitochondrial haplotype C4c confirmed as a founding genome in the Americas." Am. J. Phys. Anthropol. 141 (3), 494-497 (2010).) C1d1 C1d2 – Colombia (MestizoU.A. Perego, N. Angerhofer, M. Pala, et al., "The initial peopling of the Americas: a growing number of founding mitochondrial genomes from Beringia." Genome Res. 20 (9), 1174-1179 (2010).) C1d2a – Colombia (Mestizos) C1e – Iceland C1f – Pamiri Tajik (Gorno-Badakhshan),YFull MTree 1.02.7045 (as of January 11, 2021) India (Marathi), Scotland, Italy, Mesolithic NW Russia C1g – Mesolithic NW Russia (Karelia) C4 – Upper Palaeolithic (14050 - 13770 ybp) Ust-Kyakhta (Buryatia), Late Neolithic-Bronze Age Irkutsk Oblast,Kilinc, G.M., Kashuba, N., Yaka, R., Sumer, A.P., Yuncu, E., Shergin, D., Ivanov, G.L., Kichigin, D., Pestereva, K., Volkov, D., Mandryka, P., Kharinskii, A., Tishkin, A., Ineshin, E., Kovychev, E., Stepanov, A., Alekseev, A., Fedoseeva, S.A., Somel, M., Jakobsson, M., Krzewinska, M., Stora, J., and Gotherstrom, A., "Investigating Holocene human population history in North Asia using ancient mitogenomes." Sci Rep 8 (1), 8969 (2018) Late Neolithic-Iron Age Yakutia, Tubalar (Ederbes), Todzhin (Toora-Hem, Iiy, Adir-Kezhig), Yukaghir (Andrushkino), Yukaghir/Chuvan (Markovo), Russian,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). Myanmar C4a'b'c - Irkutsk Oblast (6815 ybp), India (Jenu Kuruba) C4a – China (Guangdong, Han from Beijing) C4a1 – Mongol from Chifeng and Hulunbuir, Tashkurgan (Kyrgyz, Sarikoli, Wakhi), Czech Republic, Denmark C4a1a – Korea, China, Uyghur, Buryat (South Siberia), Denmark, Sweden, France, Scotland, Canada C4a1a1 C4a1a1a C4a1a1a1 - Lepcha, Sherpa (Nepal) C4a1a1a2 - Lachungpa C4a1a1a3 - Wancho C4a1a1b - Poland, Finland (Hamina) C-T195C! – Ireland, Scotland, England, USA, Hungary (Szeged regionMalyarchuk, B., Derenko, M., Denisova, G., et al., "Whole mitochondrial genome diversity in two Hungarian populations." Mol. Genet. Genomics (2018).), Poland, Belarus, Russia (Russian, 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), Koryak, Yukaghir, Yakut, Evenk (Nyukzha, Chumikan, Nelkan/Dzhigda), Even (Sakkyryyr, Sebjan, Tompo, Markovo, Kamchatka), Udinsk Buryat (Kushun), Todzhin (Toora-Hem, Adir-Kezhig), Altai Kizhi, Iran (Qashqai), Sweden C4a1a3a – Yakut, Buryat (Buryat Republic, Irkutsk Oblast), Bargut, Nentsi C4a1a3a1 – Yakut, Nganasan (Vadei of Taimyr Peninsula) C4a1a3a1a - Evenk (Taimyr, Stony Tunguska) C4a1a3a1b - Tofalar C4a1a3b – Bargut, Uyghur C4a1a3b1 - Chelkan, Tubalar C4a1a3c – Evenk (Taimyr Peninsula, Stony Tunguska) C4a1a3d – Yakut C4a1a4 – Buryat, Kazakhstan C4a1a4a – Evenk (Okhotsk region), Shor C4a1a5 – Teleut, Ladakh C4a1a6 C4a1a6a - Russia (Bashkortostan, Khamnigan), Kyrgyzstan (Kyrgyz), Inner Mongolia (Bargut, Buryat) C4a1a6b - Buryat (South Siberia, Inner Mongolia), Uyghur C4a1a7 - DenmarkKlunk, J., Duggan, A.T., Redfern, R., et al., "Genetic resiliency and the Black Death: No apparent loss of mitogenomic diversity due to the Black Death in medieval London and Denmark." Am. J. Phys. Anthropol. (2019). C4a1b – China, Thailand (Palaung) C4a1c - Russia (Bashkortostan, Adygei), Iran (Azerbaijanian), China (Xibo, Mongol from Tianjin) C4a2 C4a2a – Yakut, Evenk (Chumikan)