Haplogroup G (mtDNA)

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

Haplogroup G
Possible time of origin35,700 YBP[1]
Possible place of originEast Asia
AncestorM12'G
DescendantsG1, G2, G3, G4
Defining mutations709, 4833, 5108[2]

Origin

Haplogroup G is a descendant of haplogroup M. Haplogroup G is divided into subclades G1, G2, G3, and G4.

Distribution

It is an East Asian haplogroup.[3] Today, haplogroup G is found at its highest frequency in indigenous populations of the lands surrounding the Sea of Okhotsk.[4][5] Haplogroup G is one of the most common mtDNA haplogroups among modern Ainu, Siberian, Mongol, Tibetan and Central and North Asian Turkic peoples people (as well as among people of the prehistoric Jōmon culture in Hokkaidō). It is also found at a lower frequency among many other populations of East Asia, Central Asia, Bangladesh, Sri Lanka, and Nepal.[6][7][8][9] However, unlike other mitochondrial DNA haplogroups typical of populations of northeastern Asia, such as haplogroup A, haplogroup C, and haplogroup D, haplogroup G has not been found among indigenous peoples of the Americas.

Table of Frequencies by ethnic group

Population Frequency Count Source Subtypes
Itelmen0.68147Starikovskaya 2005G1=32
Koryak0.419155Starikovskaya 2005G1=65
Chuvantsi (Markovo, Chukotka)0.28132Volodko 2008G1=9
Negidal0.27333Starikovskaya 2005G1=9
Tharu (Chitwan, Nepal)0.233133Fornarino 2009G2a=19, G(xG2a)=12
Kazakh (Uzbekistan/Kyrgyzstan)0.20020Comas 2004G2a=4
Ainu0.19651[10]G1=8, G2=2
Tibetan (Lhasa, Tibet)0.18244Ji 2012G2a=3, G3b=3, G2(xG2a)=2
Mongolian (Ulan Bator)0.17047Jin 2009G2a=5, G(xG1a, G2, G3)=2, G3=1
Korean (Arun Banner)0.16748Kong 2003G2(xG2a)=3, G2a=3, G1a=1, G3=1
Tibetan (Nyingchi, Tibet)0.16724Ji 2012G=4
Oirat Mongol (Xinjiang)0.16349Yao 2004G2a=3, G2(xG2a)=3, G(xG1a, G2, G3)=2
Tibetan (Shannan, Tibet)0.15819Ji 2012G=3
Yukaghir (Lower Kolyma-Indigirka)0.14682Volodko 2008G1=12
Kyrgyz (Talas)0.14648Yao 2004G2a=7
Tibetan (Shannan, Tibet)0.14555Ji 2012G2a=4, G2(xG2a)=3, G3b=1
Uyghur (Xinjiang)0.12847Yao 2004G2a=5, G3=1
Tharu (Morang, Nepal)0.12540Fornarino 2009G2a=4, G(xG2a)=1
Japanese (Gifu)0.1161617Fuku 2007G=188
Ulch0.11587Starikovskaya 2005G1=9, G2=1
Oroqen (Oroqen Autonomous Banner)0.11444Kong 2003G(xG1a, G2, G3)=5
Tibetan (Qinghai)0.10756Wen 2004G(xG2, G3)=2, G2a=2, G2(xG2a)=1, G3=1
Mongolian (Ulan Bator)0.10647Derenko 2007G2a=4, G1=1
Tuvan0.10595Starikovskaya 2005G2=6, G3=4
Huatou Yao (Fangcheng, Guangxi)0.10519G2=2
Japanese0.104211Maruyama 2003G4a=12, G2a=6, G4b=2, G2(xG2a)=1, G(xG2, G4a, G4b)=1
Tibetan (Chamdo, Tibet)0.10329Ji 2012G3b=2, G2a=1
Tibetan (Shigatse, Tibet)0.10329Ji 2012G2a=2, G2(xG2a)=1
Korean (South Korea)0.103185Jin 2009G2(xG2a)=7, G2a=6, G3=4, G1a=1, G(xG1a, G2, G3)=1
Japanese (Tokyo)0.102118Zheng 2011G=12
Khamnigan (Buryatia)0.10199Derenko 2007G2a=9, G3=1
Han (Beijing)0.10040Jin 2009G2a=2, G2(xG2a)=1, G(xG1a, G2, G3)=1
Manchurian0.10040Jin 2009G1a=3, G2a=1
Tu Yao (Hezhou, Guangxi)0.09841G2=4
Japanese (Tōkai)0.096282Umetsu 2005G1a=13, G(xG1a, G1b)=12, G1b=2
Even (Eveno-Bytantaysky & Momsky)0.095105Fedorova 2013G1b=9, G2a(xG2a5)=1
Barghut (Hulunbuir)0.094149Derenko 2012G2=13, G3=1
Chukchi0.09166Starikovskaya 2005G1=6
Xiban Yao (Fangcheng, Guangxi)0.09111G2=1
Daur (Evenk Autonomous Banner)0.08945Kong 2003G1a=2, G2a=2
Hui (Xinjiang)0.08945Yao 2004G2a=2, G1a=1, G(xG1a, G2, G3)=1
Japanese (Hokkaidō)0.088217Asari 2007G1a=11, G(xG1a, G1b)=7, G1b=1
Evenk (New Barag Left Banner)0.08547Kong 2003G(xG1a, G2, G3)=4
Zhuang
(Napo County, Guangxi)
0.085130G2=8
G(xG2)=3
Pumi (Ninglang, Yunnan)0.08336Wen 2004G(xG2, G3)=2, G3=1
Kalmyk (Kalmykia)0.082110Derenko 2007G2a=7, G1=1, G(xG1, G2a, G3)=1
Buryat0.08025Starikovskaya 2005G2=1, G3=1
Buryat0.079126Kong 2003G2a=8, G2(xG2a)=2
Korean (South Korea)0.079203Umetsu 2005G1a=9, G(xG1a, G1b)=7
Bai (Dali, Yunnan)0.07468Wen 2004G2(xG2a)=5
Dargin (Dagestan)0.07128Marchani 2008G=2
Uzbek (Xinjiang)0.06958Yao 2004G2a=2, G3=1, G(xG1a, G2, G3)=1
Chinese (Shenyang, Liaoning)0.069160Umetsu 2005G(xG1a, G1b)=8, G1a=3
Korean (South Korea)0.068103Derenko 2007G2a=3, G1=2, G3=2
Korean (Seoul National University Hospital)0.068633Fuku 2007G=43
Yakut (northern Yakutia)0.068148Fedorova 2013G2a5=6, G2a(xG2a5)=2, G1b=2
Chukchi (Anadyr)0.06715Derenko 2007G1=1
Naxi (Lijiang, Yunnan)0.06745Wen 2004G(xG2, G3)=3
Tujia (Yongshun, Hunan)0.06730Wen 2004G(xG2, G3)=1, G2(xG2a)=1
Tuvinian0.067105Derenko 2007G2a=4, G1=2, G3=1
Gelao (Daozhen County, Guizhou)0.06531G2a=2
Mien (Shangsi, Guangxi)0.06332G2=2
Korean (South Korea)0.061261Kim 2008G(xG2)=11, G2=5
Mansi0.06198Starikovskaya 2005G2=6
Japanese (Miyazaki)0.060100Uchiyama 2007G4a=2, G1a=1, G1b=1, G2a1(xG2a1a)=1, G2a1a=1
Han (Beijing Normal University)0.058121Zheng 2011G=7
Tibetan (Zhongdian, Yunnan)0.05735Wen 2004G3=2
Kazakh (Xinjiang)0.05753Yao 2004G1a=1, G2a=1, G(xG1a, G2, G3)=1
Altai Kizhi0.05690Derenko 2007G1=4, G2a=1
Tibetan (Nyingchi, Tibet)0.05654Ji 2012G2(xG2a)=1, G2a=1, G3b=1
Han (Denver, Colorado)0.05573Zheng 2011G=4
Kazakh (Kazakhstan)0.05555Yao 2004G2a=3
Japanese (Tōhoku)0.054336Umetsu 2005G1a=13, G(xG1a, G1b)=5
Nivkh (northern Sakhalin)0.05456Starikovskaya 2005G1=3
Karakalpak (Uzbekistan/Kyrgyzstan)0.05020Comas 2004G2a=1
Kim Mun (Malipo, Yunnan)0.05040G2=2
Tajik (Uzbekistan/Kyrgyzstan)0.05020Comas 2004G2a=1
Uzbek (Uzbekistan/Kyrgyzstan)0.05040Comas 2004G2a=2
Yi (Shuangbai, Yunnan)0.05040Wen 2004G(xG2, G3)=1, G2(xG2a)=1
Orok (Sakhalin)0.04961Bermisheva 2005G=3
Gelao (Daozhen County, Guizhou)0.049102G(xG2, G3)=4, G2a1=1
Yakut (vicinity of Yakutsk)0.049164Fedorova 2013G2a(xG2a5)=6, G2a5=2
Hmong (Jishou, Hunan)0.049103G3=2, G(xG2, G3)=2, G2=1
Vietnamese0.04842Jin 2009G1a=1, G3=1
Japanese (northern Kyūshū)0.047256Umetsu 2005G(xG1a, G1b)=9, G1a=3
Tujia (western Hunan)0.04764Wen 2004G(xG2, G3)=1, G2(xG2a)=1, G3=1
Tajik (Tajikistan)0.04544Derenko 2007G2a=1, G3=1
Yukaghir (Verkhnekolymsky & Nizhnekolymsky)0.04522Fedorova 2013G1b=1
Hazara (North West Frontier Province & Balochistan)0.04323Quintana-Murci 2004G=1
Mongol (New Barag Left Banner)0.04248Kong 2003G2(xG2a)=2
Evenk (Krasnoyarsk)0.04173Derenko 2007G2a=2, G1=1
Aini (Xishuangbanna, Yunnan)0.04050Wen 2004G2a=2
Korean (northern China)0.03951Jin 2009G2a=1, G2(xG2a)=1
Kumik (Dagestan)0.03826Marchani 2008G=1
Lanten Yao (Tianlin, Guangxi)0.03826G2=1
Yakut (Vilyuy River basin)0.036111Fedorova 2013G2a(xG2a5)=2, G2a5=1, G1b=1
Dong (Tianzhu County, Guizhou)0.03628G(xG1a, G2)=1
Cun (Hainan)0.03330G=1
Nu (Gongshan, Yunnan)0.03330Wen 2004G(xG2, G3)=1
Lingao (Hainan)0.03231G=1
Yi (Luxi, Yunnan)0.03231Wen 2004G(xG2, G3)=1
Pan Yao (Tianlin, Guangxi)0.03132G(xG2, G3)=1
Nogai (Dagestan)0.03033Marchani 2008G=1
Han (Southwest China; pool of 44 Sichuan, 34 Chongqing, 33 Yunnan, & 26 Guizhou)0.029137Ji 2012G1=3, G2=1
Han (southern California)0.028390Ji 2012G=11
Telenghit (Altai Republic)0.02871Derenko 2007G2a=2
Yakut (Yakutia)0.02836Derenko 2007G2a=1
Hmong (Wenshan, Yunnan)0.02639G(xG2, G3)=1
Yakut0.026117Kong 2003G2a=2, G1a=1
Evenk (Ust-Maysky, Oleneksky, and Zhigansky)0.024125Fedorova 2013G1b=2, G2a(xG2a5)=1
Uzbek (Surkhandarya, Uzbekistan)0.02442Quintana-Murci 2004G=1
Evenk (Buryatia)0.02245Derenko 2007G3=1
Taiwanese (Taipei, Taiwan)0.02291Umetsu 2005G(xG1a, G1b)=2
Han (Taiwan)0.0211117Ji 2012G=24
Han (Xinjiang)0.02147Yao 2004G2a=1
Kyrgyz (Sary-Tash)0.02147Yao 2004G2a=1
Hindu (New Delhi)0.02148Fornarino 2009G(xG2a)=1
Kazakh (Kosh-Agachsky, Altai Republic)0.02098Derenko 2012G2=1, G3=1
Turkish (Anatolia, Turkey)0.02050Quintana-Murci 2004G=1
Khanty0.019106Pimenoff 2008G2=2
Uyghur (Kazakhstan)0.01855Yao 2004G2(xG2a)=1
Khakassian (Khakassia)0.01857Derenko 2007G3=1
Mansi0.01663Pimenoff 2008G2=1
Okinawa0.015326Umetsu 2005G(xG1a, G1b)=3, G1a=2
Persian (eastern Iran)0.01282Derenko 2007G2a=1
Pakistani (Karachi, Pakistan)0.010100Quintana-Murci 2004G=1
Li (Hainan)0.009346G=3
Dolgan (Anabarsky, Volochanka, Ust-Avam, and Dudinka)0.006154Fedorova 2013G1b=1
Cham (Bình Thuận, Vietnam)0.006168G=1
Taiwan aborigines0.002640G=1
Dingban Yao (Mengla, Yunnan)0.00010-
Yukaghir (Upper Kolyma)0.00018Volodko 2008-
Filipino (Palawan)0.00020Scholes 2011-
Yi (Hezhang County, Guizhou)0.00020-
Hindu (Chitwan, Nepal)0.00024Fornarino 2009-
Guoshan Yao (Jianghua, Hunan)0.00024-
Bunu (Dahua & Tianlin, Guangxi)0.00025-
Kurd (northwestern Iran)0.00025Derenko 2007-
Iu Mien (Mengla, Yunnan)0.00027-
Andhra Pradesh (tribal)0.00029Fornarino 2009-
Tujia (Yanhe County, Guizhou)0.00029-
Batak (Palawan)0.00031Scholes 2011-
Wuzhou Yao (Fuchuan, Guangxi)0.00031-
Bapai Yao (Liannan, Guangdong)0.00035-
Tibetan (Nagchu, Tibet)0.00035Ji 2012-
Aleut (Commander Islands)0.00036Volodko 2008-
Eskimo (Sireniki)0.00037Volodko 2008-
Eskimo (Naukan)0.00039Volodko 2008-
Nganasan0.00039Volodko 2008-
Thai0.00040Jin 2009-
Lowland Yao (Fuchuan, Guangxi)0.00042-
Eskimo (Chaplin)0.00050Volodko 2008-
Teleut (Kemerovo)0.00053Derenko 2007-
Han (Hunan & Fujian)0.00055Zheng 2011-
Saami (Finland)0.00069Tambets 2004-
Shor (Kemerovo)0.00082Derenko 2007-
Eskimo (Canada)0.00096Volodko 2008-
Saami (Sweden)0.00098Tambets 2004-
Aleut (Aleutian Islands)0.000163Volodko 2008-
Saami (Norway)0.000278Tambets 2004-
Eskimo (Greenland)0.000385Volodko 2008-

Subclades

Subclade G2 is the most widely distributed, being found with low frequency in many populations all the way from eastern Europe (Poles, Ukrainians, Lipka Tatars) and western Siberia (Mansi, Khanty) to Japan (Japanese, Ainu) and from Iran (Persian) to southern China (Hmong and Tujia in Hunan and Mien in Guangxi) and Southeast Asia (Myanmar, Thailand, Cambodia). G2 (and especially its subclade G2a) is notably frequent among many Mongolic- or Turkic-speaking populations of northern East Asia and Central Asia. G2a also has been found with high frequency in some samples of Tharus from southern Nepal.[11][12] The subclade G2a3 has been observed in Russia, an Azeri in Iran,[13] and a Uyghur in Artux, Xinjiang, China;[14] its subclade G2a3a has been observed among Komis and Udmurts.[15] Subclade G2a4 has been observed in China, Taiwan, and in a Ukrainian from the Lviv region of western Ukraine. Subclade G2a5 has been observed in Japan, Korea, and among Buryats, Barghuts, and various Turkic peoples (Karachay, Balkar, Kyrgyz, Kazakh, Karakalpak, Telengit, Tubalar, Yakut).

Subclade G1 is almost completely responsible for the high frequency of haplogroup G in populations located around the Sea of Okhotsk (Itelmen, Koryak, Negidal, Ulch, Ainu, Chukchi, Nivkh, etc.). G1 in Luoravetlans (Koryak & Chukchi) is essentially G1b, and this subclade is also found with generally low frequency in populations of Yakutia to the west (Evens, Yukaghirs, Evenks, Yakuts, Dolgans) as well as in Japan.[16] G1a has been found in samples from China (Daur, Hui, Kazakh, Sarikoli,[14] Korean, Manchu, Yi,[17] Jino,[17] Yunnan Dai,[17] Jiangxi Han,[17] and a sample of the general population of the city of Shenyang), Tajikistan (Pamiris[14]), Japan, Korea, Vietnam, and central Siberia (Yakut, Altai-kizhi). G1c has been found in China, Korea, and a Seletar.

Subclade G3 is relatively rare. It has been found mainly among Koreans,[18] Tibetans, and presently Turkic- or Mongolic-speaking populations in southern Siberia and vicinity, and occasionally among Evenks in Buryatia, Japanese, Pumi, Naxi,[17] Uyghurs,[14] Sarikolis,[14] Tajiks, Pashtuns and Hazaras in Afghanistan, Kashmir, Han Chinese in Sichuan,[17] Hmong and Tujia in western Hunan, and Vietnamese.

Subclade G4 has been found in Japan and possibly in one Chinese individual from Guizhou.[17]

Tree

This phylogenetic tree of haplogroup G subclades is based on the paper by Mannis van Oven and Manfred Kayser Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation[2] and subsequent published research.

  • G
    • G1
      • G1a
        • G1a1
          • G1a1a
            • G1a1a1
            • G1a1a2
            • G1a1a3
        • G1a2'3
          • G1a2
          • G1a3
            • G1a3a
      • G1b
      • G1c
    • G2
      • G2a
        • G2a1
          • G2a1a
          • G2a1b
          • G2a1c
        • G2a2
        • G2a3
          • G2a3a
        • G2a4
      • G2b
        • G2b1
    • G3
      • G3a
        • G3a1
        • G3a2
      • G3b
        • G3b1
    • G4

See also

References

  1. Soares, Pedro; Luca Ermini; Noel Thomson; Maru Mormina; Teresa Rito; Arne Röhl; Antonio Salas; Stephen Oppenheimer; Vincent Macaulay; Martin B. Richards (4 June 2009). "Supplemental Data Correcting for Purifying Selection: An Improved Human Mitochondrial Molecular Clock". The American Journal of Human Genetics. 84 (6): 82–93. doi:10.1016/j.ajhg.2009.05.001. PMC 2694979. PMID 19500773.
  2. 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.
  3. Haplogroup G.
  4. mtDNA Haplogroup Testing Archived 2006-12-14 at the Wayback Machine
  5. 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.
  6. Umetsu, Kazuo; Tanaka, Masashi; Yuasa, Isao; et al. (2005). "Multiplex amplified product-length polymorphism analysis of 36 mitochondrial single-nucleotide polymorphisms for haplogrouping of East Asian populations". Electrophoresis. 26 (1): 91–98. doi:10.1002/elps.200406129. PMID 15624129. S2CID 44989190.
  7. Fuku, Noriyuki; Soo Park, Kyong; Yamada, Yoshiji; et al. (2007). "Mitochondrial Haplogroup N9a Confers Resistance against Type 2 Diabetes in Asians". Am. J. Hum. Genet. 80 (3): 407–415. doi:10.1086/512202. PMC 1821119. PMID 17273962.
  8. Asari, M; et al. (2007). "Utility of haplogroup determination for forensic mtDNA analysis in the Japanese population". Leg Med. 9 (5): 237–240. doi:10.1016/j.legalmed.2007.01.007. PMID 17467322.
  9. Ranaweera, Lanka; Kaewsutthi, Supannee; Win Tun, Aung; Boonyarit, Hathaichanoke; Poolsuwan, Samerchai; Lertrit, Patcharee (2014). "Mitochondrial DNA history of Sri Lankan ethnic people: Their relations within the island and with the Indian subcontinental populations". Journal of Human Genetics. 59 (1): 28–36. doi:10.1038/jhg.2013.112. PMID 24196378. S2CID 41185629.
  10. Tajima A, Hayami M, Tokunaga K, et al. (2004). "Genetic origins of the Ainu inferred from combined DNA analyses of maternal and paternal lineages". Journal of Human Genetics. 49 (4): 187–193. doi:10.1007/s10038-004-0131-x. PMID 14997363.
  11. Fornarino, Simona; Pala, Maria; Battaglia, Vincenza; et al. (2009). "Mitochondrial and Y-chromosome diversity of the Tharus (Nepal): a reservoir of genetic variation". BMC Evolutionary Biology. 9: 154. doi:10.1186/1471-2148-9-154. PMC 2720951. PMID 19573232.
  12. Pimenoff, Ville N; Comas, David; Palo, Jukka U; et al. (2008). "Northwest Siberian Khanty and Mansi in the junction of West and East Eurasian gene pools as revealed by uniparental markers". European Journal of Human Genetics. 16 (10): 1254–1264. doi:10.1038/ejhg.2008.101. PMID 18506205. S2CID 19488203.
  13. Derenko M, Malyarchuk B, Bahmanimehr A, Denisova G, Perkova M, et al. (2013), "Complete Mitochondrial DNA Diversity in Iranians." PLoS ONE 8(11): e80673. doi:10.1371/journal.pone.0080673
  14. Min-Sheng Peng, Weifang Xu, Jiao-Jiao Song, et al. (2018), "Mitochondrial genomes uncover the maternal history of the Pamir populations." European Journal of Human Genetics https://doi.org/10.1038/s41431-017-0028-8
  15. Kristiina Tambets, Bayazit Yunusbayev, Georgi Hudjashov, et al., "Genes reveal traces of common recent demographic history for most of the Uralic-speaking populations." Genome Biology (2018) 19:139. https://doi.org/10.1186/s13059-018-1522-1
  16. Uchiyama, Taketo; Hisazumi, Rinnosuke; Shimizu, Kenshi; et al. (2007). "Mitochondrial DNA Sequence Variation and Phylogenetic Analysis in Japanese Individuals from Miyazaki Prefecture". Japanese Journal of Forensic Science and Technology. 12 (1): 83–96. doi:10.3408/jafst.12.83.
  17. Qing-Peng Kong, Chang Sun, Hua-Wei Wang, et al. (2011), "Large-Scale mtDNA Screening Reveals a Surprising Matrilineal Complexity in East Asia and Its Implications to the Peopling of the Region." Molecular Biology and Evolution 28(1):513–522. doi:10.1093/molbev/msq219
  18. Jin, H-J; Tyler-Smith, C; Kim, W (2009). "The Peopling of Korea Revealed by Analyses of Mitochondrial DNA and Y-Chromosomal Markers". PLOS ONE. 4 (1): e4210. Bibcode:2009PLoSO...4.4210J. doi:10.1371/journal.pone.0004210. PMC 2615218. PMID 19148289.

Works cited

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
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