Haplogroup C (mtDNA) explained

C
Map:Map-of-human-migrations.jpg
Origin-Date:36,473.3 (SD 7392.0) years[1]
Origin-Place:East Asia[2]
Ancestor:CZ
Tmrca:27,370 (95% CI 19,550 <-> 35,440) ybp
23,912.2(SD 4780.8) years
21,700 (95% CI 19,200 <-> 24,400) ybp
Descendants:C1, C4, C5, C7
Mutations:489 10400 14783 15043[3]

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 Asia[4] (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.[5] [6] Haplogroup C is one of five mtDNA haplogroups found in the indigenous peoples of the Americas,[4] 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.[7] [8] [9]

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.[10]

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

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

Popular culture

See also

Bibliography

External links

Notes and References

  1. Behar et al., 2012b
  2. Derenko . Miroslava . Malyarchuk . Boris . Grzybowski . Tomasz . Denisova . Galina . Rogalla . Urszula . Perkova . Maria . Dambueva . Irina . Zakharov . Ilia . Origin and Post-Glacial Dispersal of Mitochondrial DNA Haplogroups C and D in Northern Asia . PLOS ONE . 2010 . 5 . 12 . e15214 . 10.1371/journal.pone.0015214 . 21203537 . 3006427 . 2010PLoSO...515214D . en . 1932-6203. free . "More than a half of the northern Asian pool of mtDNA is fragmented into a number of subclades of haplogroups C and D, two of the most frequent haplogroups throughout northern, eastern, central Asia and America. Previous studies have proposed that haplogroups C and D originated around 30–50 kya in eastern Asia, from where they subsequently expanded northwards to southern Siberia, and further deep into northern Asia and the Americas, and westwards along the Steppe Belt extending from Manchuria to Europe [14], [15]. It has been also shown that haplogroups C and D were strongly involved in the late-glacial expansions from southern China to northeastern India [16]. In addition, because of their high frequency and wide distribution, haplogroups C and D most likely participated in all subsequent episodes of putative gene flow in northern Eurasia. These include (i) the Paleolithic colonization of Siberia that is associated with the development of macroblade industries (40–30 kya), (ii) further recolonization and possible replacement of early Siberians by microblade-making human populations from the Lake Baikal, Yenisei River, and Lena River basin regions (20 kya), (iii) appearance of pottery-making Neolithic tradition in the forest-steppe belt of northern Eurasia starting at about 14.5 kya and its expanding into the East European Plane (7 kya), (iv) the Neolithic dispersal of agriculture in eastern Asia, (v) the expansion of the Afanasievo and Andronovo cultures (5–3 kya), and (vi) more recent events of gene flow to eastern and central Europe."
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