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.[2]
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.[3][4][5]
Other branches of haplogroup A are less frequent but widespread among other populations of Asia.[6][7] 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.[4]
In Asia, A(xA2) is especially frequent in Tibeto-Burman-speaking populations of Southwest China, such as Tibetans (6/65 = 9.2%,[3] 25/216 = 11.6%,[8] 11/73 = 15.1%[8]). Approximately 7% to 15% of Koreans belong to haplogroup A.[4][9][10] Approximately 5% to 12% of the Japanese belong to haplogroup A (including A4, A5, and A(xA4, A5)).[3][11][12][13] 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,[9] 4/48 = 8.3% Mongols from New Barag Left Banner in haplogroup A(xA5),[10] 6/47 = 12.8% Mongolians from Ulan Bator in haplogroup A4[4]). Approximately 3% to 9% of Chinese people belong to haplogroup A.[11] Haplogroup A also has been found in Vietnamese (2/42 = 4.8%, including one A4 and one A5(xA5a)).[9] Approximately 4% (3/71) of Tatars from Aznakayevo,[14] 3% (4/126) of Tatars from Buinsk,[14] and 2% of Turkish people belong to haplogroup A.[15] 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.[4] Haplogroup A is not found among Austronesians.[16]
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[1] and subsequent published research.
^ abcdeMiroslava 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
^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.
^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
^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
^ abFuyun 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
^ abQing-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
^ abKazuo 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
^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
^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
^ abBoris 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
^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
^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.