Haplogroup A (mtDNA)

Haplogroup A
Possible time of origin 132,000 ± 12,000 YBP[1]
Possible place of origin Asia
Ancestor N
Descendants A3, A4, A5, A7, A8
Defining mutations 152, 235, 523-524d, 663, 1736, 4248, 4824, 8794, 16290, 16319[2]

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

Origin

mtDNA-based chart of possible large human migrations.

Haplogroup A is believed to have arisen in Asia some 30,000–50,000 years before present. Its ancestral haplogroup was Haplogroup N.

Its highest frequencies are among Indigenous peoples of the Americas, its largest overall population is in East Asia, and its greatest variety (which suggests its origin point) is in East Asia. Thus, it might have originated in and spread from the Far East.[3]

Distribution

Its subgroup A2 (actually a subclade of A4, which is widespread in Asia) is found in ChukotkoKamchatka[4] and is also one of five mtDNA haplogroups found in the indigenous peoples of the Americas, the others being B, C, D, and X.[3]

Haplogroup A2 is the most common haplogroup among the Inuit, Na-Denes, and many Amerind ethnic groups of North and Central America. Lineages belonging to haplogroup A2 also comprise the majority of the mtDNA pool of the Inuit and their neighbors, the Chukchis, in northeasternmost Siberia.[4][5][6]

Other branches of haplogroup A are less frequent but widespread among other populations of Asia.[7][8] In particular, haplogroup A4(xA2) is ubiquitous in populations from Siberia in the north to Iran and Vietnam in the south. Haplogroup A5, on the other hand, is rather limited to populations from Korea and Japan southward, though it has been detected as singletons in a pair of large samples of Khamnigans (1/99 = 1.0%) and Buryats (1/295 = 0.3%) from the Buryat Republic.[5]

In Asia, A(xA2) is especially frequent in Tibeto-Burman-speaking populations of Southwest China, such as Tibetans (6/65 = 9.2%,[4] 25/216 = 11.6%,[9] 11/73 = 15.1%[9]). Approximately 7% to 15% of Koreans belong to haplogroup A.[5][10][11] Approximately 5% to 12% of the Japanese belong to haplogroup A (including A4, A5, and A(xA4, A5)).[4][12][13][14] Approximately 4% to 13% of Mongols belong to haplogroup A, almost all of whom are contained within the A4 subclade (2/47 = 4.3% Mongolians from Ulan Bator in haplogroup A4,[10] 4/48 = 8.3% Mongols from New Barag Left Banner in haplogroup A(xA5),[11] 6/47 = 12.8% Mongolians from Ulan Bator in haplogroup A4[5]). Approximately 3% to 9% of Chinese people belong to haplogroup A.[12] Haplogroup A also has been found in Vietnamese (2/42 = 4.8%, including one A4 and one A5(xA5a)).[10] Approximately 4% (3/71) of Tatars from Aznakayevo,[15] 3% (4/126) of Tatars from Buinsk,[15] and 2% of Turkish people belong to haplogroup A.[16] Haplogroup A4 has been found in 2.4% (2/82) of a sample of Persians from eastern Iran and in 2.3% (1/44) of a sample of Tajiks from Tajikistan.[5] Haplogroup A is not found in Austronesians.[17]

Table of Frequencies of MtDNA Haplogroup A

Population Frequency Count Source Subtypes
Eskimo (Greenland)0.961385Volodko 2008A2b=196, A2a=174
Eskimo (Chaplin)0.90050Volodko 2008A2a=36, A2b=9
Eskimo (Canada)0.87596Volodko 2008A2b=68, A2a=16
Siberian Eskimo0.77279Starikovskaya 2005A2=61 (41/46 Chaplin, 17/25 Sireniki, 3/8 Naukan)
Eskimo (Naukan)0.74439Volodko 2008A2b=16, A2a=13
Chukchi (Anadyr, Chukotka)0.73315Derenko 2007A2=11
Eskimo (Sireniki)0.70337Volodko 2008A2a=16, A2b=10
Chukchi0.68266Starikovskaya 2005A2=45
Bella Coola0.65584Malhi 2004A=55
Apache0.63238Malhi 2003A=24
Nahua (Cuetzalan, Mexico)0.61331Malhi 2003A=19
Navajo0.51664Malhi 2003A=33
Nuu-Chah-Nulth0.451102Malhi 2004A=46
Aleut (Aleutian Islands)0.344163Volodko 2008A2a=56
Nu (Gongshan, Yunnan)0.30030Wen 2004A=9
Lisu (Gongshan, Yunnan)0.29737Wen 2004A=11
Chuvantsi (Markovo, Chukotka)0.25032Volodko 2008A2a=6, A2b=2
Tibetan (Diqing, Yunnan)0.25024Wen 2004A=6
Yi (Hezhang County, Guizhou)0.25020Li 2007A=5
Tibetan (Nagchu, Tibet)0.22935Ji 2012A=8
Tibetan (Qinghai)0.21456Wen 2004A=12
Tibetan (Shannan, Tibet)0.21119Ji 2012A=4
Yi (Xishuangbanna, Yunnan)0.18816Wen 2004A=3
Tibetan (Chamdo, Tibet)0.17229Ji 2012A1=5
Zuni0.15426Malhi 2003A=4
Korean (Arun Banner)0.14648Kong 2003A5=4, A(xA5)=3
Tujia (Western Hunan)0.14164Wen 2004A=9
Pumi (Ninglang, Yunnan)0.13936Wen 2004A=5
Tujia (Yanhe County, Guizhou)0.13829Li 2007A=4
Tibetan (Lhasa, Tibet)0.13644Ji 2012A1=6
Mongolian (Ulan Bator)0.12847Derenko 2007A4(xA2)=6
Hani (Xishuangbanna, Yunnan)0.12133Wen 2004A=4
Japanese (Miyazaki)0.120100Uchiyama 2007A4=4, A5=4, A(xA4,A5)=4
Gelao (Daozhen County, Guizhou)0.118102Liu 2011A=12
Tibetan (Zhongdian, Yunnan)0.11435Wen 2004A=4
Tubalar (Turochak & Choysky)0.11172Starikovskaya 2005A(xA2)=8
Tibetan (Shannan, Tibet)0.10955Ji 2012A1=6
Tibetan (Shigatse, Tibet)0.10329Ji 2012A1=3
Yi (Shuangbai, Yunnan)0.10040Wen 2004A=4
Manchurian0.10040Jin 2009A(xA4,A5)=3, A4=1
Korean (northern China)0.09851Jin 2009A4=4, A5(xA5a)=1
Yi (Luxi, Yunnan)0.09731Wen 2004A=3
Han (Denver)0.09673Zheng 2011A=7
Japanese0.090211Maruyama 2003A5=11, A(xA5)=8
Naxi (Lijiang, Yunnan)0.08945Wen 2004A=4
Korean (South Korea)0.089203Umetsu 2005A=18
Chinese (Shenyang, Liaoning)0.088160Umetsu 2005A=14
Hmong (Jishou, Hunan)0.087103Wen 2005A(xA6)=7, A6=2
Japanese (Tōhoku)0.086336Umetsu 2005A=29
Mongol (New Barag Left Banner)0.08348Kong 2003A(xA5)=4
Korean (South Korea)0.081185Jin 2009A4=6, A5(xA5a)=5, A(xA4,A5)=3, A5a=1
Ket0.07938Starikovskaya 2005A(xA2)=3
Cochimí0.07713Malhi 2003A=1
Korean (South Korea)0.077261Kim 2008A=20
Han (Beijing Normal University)0.074121Zheng 2011A=9
Pai Yuman0.07427Malhi 2003A=2
Tibetan (Nyingchi, Tibet)0.07454Ji 2012A1=4
Han (Southwest China, pool of 44 Sichuan, 34 Chongqing, 33 Yunnan, and 26 Guizhou)0.073137Ji 2012A=10
Han (Hunan and Fujian)0.07355Zheng 2011A=4
Telengit0.07355Dulik 2012A=4
Korean (Seoul National University Hospital)0.073633Fuku 2007A=46
Buryat0.071126Kong 2003A(xA5)=9
Han (southern California)0.069390Ji 2012A=27
Korean (South Korea)0.068103Derenko 2007A5=4, A4(xA2)=3
Japanese (Tokyo)0.068118Zheng 2011A=8
Okinawa0.067326Umetsu 2005A=22
Japanese (northern Kyūshū)0.066256Umetsu 2005A=17
Itelmen0.06447Starikovskaya 2005A(xA2)=3
Japanese (Gifu)0.0631617Fuku 2007A=102
Barghut (Hulun Buir)0.060149Derenko 2012A4=8, A8=1
Japanese (Hokkaidō)0.060217Asari 2007A=13
Bai (Dali, Yunnan)0.05968Wen 2004A=4
Evenk (Siberia)0.05671Starikovskaya 2005A(xA2)=4
Telenghit (Altai Republic)0.05671Derenko 2007A4(xA2)=4
Jino (Xishuangbanna, Yunnan)0.05618Wen 2004A=1
Bai (Xishuangbanna, Yunnan)0.05319Wen 2004A=1
Koryak0.052155Starikovskaya 2005A2=4, A(xA2)=4
Buryat (Buryatia)0.051295Derenko 2007A4(xA2)=13, A5=1, A8=1
Khamnigan (Buryatia)0.05199Derenko 2007A4(xA2)=4, A5=1
Tibetan (Deqin, Yunnan)0.05040Wen 2004A=2
Han (Beijing)0.05040Jin 2009A4=1, A(xA4,A5)=1
Japanese (Tōkai)0.050282Umetsu 2005A=14
Dai (Xishuangbanna, Yunnan)0.04941Yao 2002A=2
Vietnamese0.04842Jin 2009A4=1, A5(xA5a)=1
Yakama0.04842Malhi 2004A=2
Akimal O’odham0.04743Malhi 2003A=2
Han (Kunming, Yunnan)0.04743Yao 2002A=2
Dolgan (Anabarsky, Volochanka, Ust-Avam, & Dudinka)0.045154Fedorova 2013A10=3, A8=2, A4(xA4b)=2
Oroqen (Oroqen Autonomous Banner)0.04544Kong 2003A(xA5)=2
Va (Simao, Yunnan)0.04522Qian 2001A=1
Evenk (New Barag Left Banner)0.04347Kong 2003A(xA5)=2
Mongolian (Ulan Bator)0.04347Jin 2009A4=2
Tatar (Aznakayevo)0.04271Malyarchuk 2010A(xA8b)=2, A8b=1
Altai-kizhi0.04248Dulik 2012A=2
Guoshan Yao (Jianghua, Hunan)0.04224Wen 2005A(xA6)=1
Evenk (Krasnoyarsk)0.04173Derenko 2007A4(xA2)=3
Evenk (Ust-Maysky, Oleneksky, Zhigansky)0.040125Fedorova 2013A4(xA4b)=3, A4b=2
Ainu0.03951Sato 2009[18]A=2
Kalmyk (Kalmykia)0.036110Derenko 2007A4(xA2)=3, A8=1
Han (Taiwanese)0.036111Chen 2013A4e1=2, A5b=2
Yakut (Vilyuy River basin)0.036111Fedorova 2013A4(xA4b)=2, A4b=1, A8=1
Han (Taiwan)0.0361117Ji 2012A=40
Dong (Tianzhu County, Guizhou)0.03628Li 2007A=1
Shor0.03628Dulik 2012A=1
Khakassian (Khakassia)0.03557Derenko 2007A4(xA2)=2
Altay Kizhi0.03390Derenko 2007A4(xA2)=3
Taiwanese (Taipei, Taiwan)0.03391Umetsu 2005A=3
Wuzhou Yao (Fuchuan, Guangxi)0.03231Wen 2005A(xA6)=1
Tatar (Buinsk)0.032126Malyarchuk 2010A8b=4
Pan Yao (Tianlin, Guangxi)0.03132Wen 2005A6=1
Kazakh (Kosh-Agach District)0.03198Derenko 2012A4=3
Mansi0.03198Starikovskaya 2005A(xA2)=3
Altai-kizhi (Altai Republic)0.029276Dulik 2012A=8
Bapai Yao (Liannan, Guangdong)0.02935Wen 2005A6=1
Guangdong0.026546Peng 2011A=14
Kim Mun (Malipo, Yunnan)0.02540Wen 2005A6=1
Persian (eastern Iran)0.02482Derenko 2007A4(xA2)=2
Tu Yao (Hezhou, Guangxi)0.02441Wen 2005A6=1
Yakut (vicinity of Yakutsk)0.024164Fedorova 2013A4b=2, A4(xA4b)=1, A8=1
Lowland Yao (Fuchuan, Guangxi)0.02442Wen 2005A(xA6)=1
Tajik (Tajikistan)0.02344Derenko 2007A4(xA2)=1
Daur (Evenk Autonomous Banner)0.02245Kong 2003A(xA5)=1
Evenk (Buryatia)0.02245Derenko 2007A4(xA2)=1
Tuvan0.02195Starikovskaya 2005A(xA2)=2
Aini (Xishuangbanna, Yunnan)0.02050Wen 2004A=1
Kumandin (Turochak District)0.01952Dulik 2012A=1
Guangxi0.0171111Peng 2011A=19
Yakut0.017117Kong 2003A(xA5)=2
Shor (Kemerovo)0.01282Derenko 2007A4(xA2)=1
Tuvinian (Tuva)0.010105Derenko 2007A4(xA2)=1
Khanty0.009106Pimenoff 2008A=1
Vietnam0.008392Peng 2011A=3
Southeast Yunnan0.006158Peng 2011A=1
Li (Hainan)0.003346Peng 2011A=1
Kiliwa0.0007Malhi 2003
Seri0.0008Malhi 2003
Dingban Yao (Mengla, Yunnan)0.00010Wen 2005
Xiban Yao (Fangcheng, Guangxi)0.00011Wen 2005
Lahu (Xishuangbanna, Yunnan)0.00015Wen 2004
Yukaghir (Upper Kolyma)0.00018Volodko 2008
Huatou Yao (Fangcheng, Guangxi)0.00019Wen 2005
Filipino (Palawan)0.00020Scholes 2011
Dai (Xishuangbanna, Yunnan)0.00021Qian 2001
Yukaghir (Verkhnekolymsky & Nizhnekolymsky)0.00022Fedorova 2013
River Yuman0.00022Malhi 2003
Delta Yuman0.00023Malhi 2003
Hindu (Chitwan, Nepal)0.00024Fornarino 2009
Nganasan0.00024Starikovskaya 2005
Tibetan (Nyingchi, Tibet)0.00024Ji 2012
Buryat (Kushun, Nizhneudinsk, Irkutsk)0.00025Starikovskaya 2005
Bunu (Dahua & Tianlin, Guangxi)0.00025Wen 2005
Kurd (northwestern Iran)0.00025Derenko 2007
Lanten Yao (Tianlin, Guangxi)0.00026Wen 2005
Iu Mien (Mengla, Yunnan)0.00027Wen 2005
Andhra Pradesh (tribal)0.00029Fornarino 2009
Batek (Malaysia)0.00029Hill 2006
Cun (Hainan)0.00030Peng 2011
Tujia (Yongshun, Hunan)0.00030Wen 2004
Batak (Palawan)0.00031Scholes 2011
Gelao (Daozhen County, Guizhou)0.00031Li 2007
Lingao (Hainan)0.00031Peng 2011
Lahu (Simao, Yunnan)0.00032Wen 2004
Mendriq (Malaysia)0.00032Hill 2006
Mien (Shangsi, Guangxi)0.00032Wen 2005
Negidal0.00033Starikovskaya 2005
Teleut0.00033Dulik 2012
Temuan (Malaysia)0.00033Hill 2006
Lahu (Lancang, Yunnan)0.00035Wen 2004
Aleut (Commander Islands)0.00036Volodko 2008
Jemez0.00036Malhi 2003
Va (Ximeng & Gengma, Yunnan)0.00036Yao 2002
Yakut (Yakutia)0.00036Derenko 2007
Taono O’odham0.00037Malhi 2003
Hmong (Wenshan, Yunnan)0.00039Wen 2005
Nganasan0.00039Volodko 2008
Thai0.00040Jin 2009
Tharu (Morang, Nepal)0.00040Fornarino 2009
Ambon0.00043Hill 2007
Lombok (Mataram)0.00044Hill 2007
Alor0.00045Hill 2007
Tofalar0.00046Starikovskaya 2005
Udegey0.00046Starikovskaya 2005
Hindu (New Delhi, India)0.00048Fornarino 2009
Sumba (Waingapu)0.00050Hill 2007
Jahai (Malaysia)0.00051Hill 2006
Senoi (Malaysia)0.00052Hill 2006
Teleut (Kemerovo)0.00053Derenko 2007
Nivkh (northern Sakhalin)0.00056Starikovskaya 2005
Filipino0.00061Hill 2007
Semelai (Malaysia)0.00061Hill 2006
Mansi0.00063Pimenoff 2008
Filipino0.00064Tabbada 2010
Filipino (Mindanao)0.00070Tabbada 2010
Tubalar (Turochak District)0.00071Dulik 2012
Bali0.00082Hill 2007
Yukaghir (Lower Kolyma-Indigirka)0.00082Volodko 2008
Ulchi0.00087Starikovskaya 2005
Chelkan (Turochak District)0.00091Dulik 2012
N. Paiute/Shoshoni0.00094Malhi 2003
Northern Paiute0.00098Malhi 2004
Even (Eveno-Bytantaysky & Momsky)0.000105Fedorova 2013
Tharu (Chitwan, Nepal)0.000133Fornarino 2009
Yakut (northern Yakutia)0.000148Fedorova 2013
Cham (Bình Thuận, Vietnam)0.000168Peng 2010
Filipino (Luzon)0.000177Tabbada 2010
Sumatra0.000180Hill 2006
Sulawesi0.000237Hill 2007
Taiwan aborigine0.000640Peng 2011

Subclades

Tree

This phylogenetic tree of haplogroup A 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.

Popular culture

The mummy "Juanita" of Peru, also called the "Ice Maiden", has been shown to belong to mitochondrial haplogroup A.[19][20]

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

Eva Longoria, an American actress of Mexican descent is Haplogroup A2.

See also

Evolutionary 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. Klyosov, A.; Rozhanskii, I (May 2012). "Re-Examining the "Out of Africa" Theory". Scientific Research: 80–86. doi:10.4236/aa.2012.22009.
  2. 2.0 2.1 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. Retrieved 2009-05-20.
  3. 3.0 3.1 Fagundes, Nelson J.R.; Ricardo Kanitz, Roberta Eckert, Ana C.S. Valls, Mauricio R. Bogo, Francisco M. Salzano, David Glenn Smith, Wilson A. Silva, Marco A. Zago, Andrea K. Ribeiro-dos-Santos, Sidney E.B. Santos, Maria Luiza Petzl-Erler, and Sandro L.Bonatto (2008). "Mitochondrial Population Genomics Supports a Single Pre-Clovis Origin with a Coastal Route for the Peopling of the Americas" (pdf). American Journal of Human Genetics 82 (3): 583–592. doi:10.1016/j.ajhg.2007.11.013. PMC 2427228. PMID 18313026. Retrieved 2009-11-19.
  4. 4.0 4.1 4.2 4.3 Tanaka, Masashi et al. (2004). "Mitochondrial Genome Variation in Eastern Asia and the Peopling of Japan". Genome Research 14 (10A): 1832–1850. doi:10.1101/gr.2286304. PMC 524407. PMID 15466285.
  5. 5.0 5.1 5.2 5.3 5.4 Miroslava Derenko, Boris Malyarchuk, Tomasz Grzybowski et al., "Phylogeographic Analysis of Mitochondrial DNA in Northern Asian Populations", Am. J. Hum. Genet. 2007;81:1025–1041. DOI: 10.1086/522933
  6. Natalia V. Volodko, Elena B. Starikovskaya, Ilya O. Mazunin et al., "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, 1084–1100, May 2008. DOI 10.1016/j.ajhg.2008.03.019.
  7. Ville N Pimenoff, David Comas, Jukka U Palo et al., "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 (2008) 16, 1254–1264; doi:10.1038/ejhg.2008.101
  8. Noriyuki Fuku, Kyong Soo Park, Yoshiji Yamada et al., "Mitochondrial Haplogroup N9a Confers Resistance against Type 2 Diabetes in Asians", Am. J. Hum. Genet. 2007; 80:407–415. DOI: 10.1086/512202
  9. 9.0 9.1 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), vol. 109, no. 19, 7391–7396. doi: 10.1073/pnas.1202484109
  10. 10.0 10.1 10.2 Han-Jun Jin, Chris Tyler-Smith and Wook Kim, "The Peopling of Korea Revealed by Analyses of Mitochondrial DNA and Y-Chromosomal Markers" PLoS ONE (2009)
  11. 11.0 11.1 Qing-Peng Kong, Yong-Gang Yao, Mu Liu et al., "Mitochondrial DNA sequence polymorphisms of five ethnic populations from northern China", Hum Genet (2003) 113 : 391–405. doi:10.1007/s00439-003-1004-7
  12. 12.0 12.1 Kazuo Umetsu, Masashi Tanaka, Isao Yuasa et al., "Multiplex amplified product-length polymorphism analysis of 36 mitochondrial single-nucleotide polymorphisms for haplogrouping of East Asian populations", Electrophoresis (2005), 26, 91–98. DOI 10.1002/elps.200406129
  13. Asari M et al., "Utility of haplogroup determination for forensic mtDNA analysis in the Japanese population", Leg Med (2007), doi:10.1016/j.legalmed.2007.01.007
  14. Zheng H-X, Yan S, Qin Z-D, Wang Y, Tan J-Z, et al. 2011 Major Population Expansion of East Asians Began before Neolithic Time: Evidence of mtDNA Genomes. PLoS ONE 6(10): e25835. doi:10.1371/journal.pone.0025835
  15. 15.0 15.1 Boris Malyarchuk, Miroslava Derenko, Galina Denisova, and Olga Kravtsova, "Mitogenomic Diversity in Tatars from the Volga-Ural Region of Russia", Mol. Biol. Evol. 27(10):2220–2226. (2010) doi:10.1093/molbev/msq065
  16. Marchani, EE; Watkins, WS; Bulayeva, K; Harpending, HC; Jorde, LB (2008). "Culture creates genetic structure in the Caucasus: Autosomal, mitochondrial, and Y-chromosomal variation in Daghestan". BMC genetics 9: 47. doi:10.1186/1471-2156-9-47. PMC 2488347. PMID 18637195.
  17. Kristina A. Tabbada, Jean Trejaut, Jun-Hun Loo et al., "Philippine Mitochondrial DNA Diversity: A Populated Viaduct between Taiwan and Indonesia?", Mol. Biol. Evol. 27(1):21–31. (2010) doi:10.1093/molbev/msp215
  18. Takehiro SATO, Tetsuya AMANO, Hiroko ONO et al., "Mitochondrial DNA haplogrouping of the Okhotsk people based on analysis of ancient DNA: an intermediate of gene flow from the continental Sakhalin people to the Ainu", Anthropological Science Vol. 117(3), 171–180, 2009.
  19. "The peopling of the Americas: Genetic ancestry influences health". Scientific American.
  20. "First Americans Endured 20,000-Year Layover – Jennifer Viegas, Discovery News". Retrieved 2009-11-18.

External links