mtDNA-based chart of possible large human migrations.
Haplogroup A is believed to have arisen in Asia some 30,000–50,000 years BC. Its ancestral haplogroup was Haplogroup N. However, the extant diversity of mitochondrial genomes that belong to Haplogroup A is low relative to the degree of divergence from its nearest outgroups in haplogroup N, which suggests that extant members of Haplogroup A might be descended from a population that has emerged from a bottleneck approximately 20,000 years ago.
Its highest frequencies are among Native Americans, 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.[4]
Distribution
Its subclade A2 shares a T16362C mutation with subclades A1 (found in Japan, Tashkurgan, Veliky Novgorod, Mongols, and Altaians), A6 (found in Tibet and in the Yangtze River basin), A12'23 (found in Siberia and among Uralic and Turkic peoples), A13'14 (found in southern Siberia, Xinjiang, Ladakh, China, Yunnan, Thailand, and Vietnam), A15 (found in China, Naxi, Uyghur, Japan, and among the Sherpa of Tibet and Nepal), A16 (found in Uyghur, Buryat, Turkey), A17 (found in China, Miao, Yi, Tibet, Ladakh, Kyrgyz, Thailand, and Vietnam), A18 (found in China), A19 (found in China), A20 (found among Han Chinese and in Japan), A21 (found in Tibet and in Jammu and Kashmir), A22 (found in China), A24 (found in Beijing and West Bohemia), A25 (found in Japan and Yakutia), and A26 (found in Denmark). A2 is found in Chukotko–Kamchatka[5] and is also one of five mtDNA haplogroups found in the indigenous peoples of the Americas, the others being B, C, D, and X.[4]
Haplogroup A2 is the most common haplogroup among the Inuit, Na-Dene, 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.[5][6][7]
Other branches of haplogroup A are less frequent but widespread among other populations of Asia.[8][9] Haplogroup A5 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.[6]
In Asia, A(xA2) is especially frequent in Tibeto-Burman-speaking populations of Southwest China, such as Tibetans (6/65 = 9.2%,[5] 25/216 = 11.6%,[10] 11/73 = 15.1%[10]). Approximately 7% to 15% of Koreans belong to haplogroup A.[6][11][12] Approximately 5% to 12% of the Japanese belong to haplogroup A (including A4, A5, and A(xA4, A5)).[5][13][14][15] 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,[11] 4/48 = 8.3% Mongols from New Barag Left Banner in haplogroup A(xA5),[12] 6/47 = 12.8% Mongolians from Ulan Bator in haplogroup A4[6]). Approximately 3% to 9% of Chinese people belong to haplogroup A.[13] Haplogroup A also has been found in Vietnamese (2/42 = 4.8%, including one A4 and one A5(xA5a)).[11] Approximately 4% (3/71) of Tatars from Aznakayevo,[16] 3% (4/126) of Tatars from Buinsk,[16] and 2% of Turkish people belong to haplogroup A.[17] 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.[6] Haplogroup A is not found among Austronesians.[18] In Nepalese population except Sherpa, haplogroup A was mirrored by its clades, A27, A14 and A17, of which A27 was the most abundant clade in Newar (3.99%).[19] Newly defined clade A27 only discerned so far in Newar and Nepali-mix coalesce at ~ 8.4 Kya suggesting their ancient origin and potentially insitu differentiation in Nepal.[19]
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[3] and subsequent published research.
A
A(xA5, A8, A10) – China (Han from Wuhan), Buryat (Inner Mongolia)
A14 – Russia (Altai Kizhi, etc.), Kyrgyz (Artux), Uyghur, China, Han Chinese (Denver), Taiwan, Thailand (Lawa from Chiang Mai Province, Mon from Lopburi Province[31]), Vietnam (Pa Then)
A15 – Uyghur
A15a – China (Han in Beijing, Lanzhou,[33]etc.), Tibet (Tingri), Uyghur, Japan
A15b – China, Japan (Ehime)
A15c – China
A15c1 – Naxi, Tibet (Sherpa), Nepal (Sherpa)
A16 – Buryat, Uyghur, Turk
A17 – China (Han from Beijing, Lanzhou,[33]etc.), Miao, Yi, Tibet (Lhoba, Monpa, Tingri), Ladakh, Kyrgyz (Tashkurgan), Thailand (Lawa from Chiang Mai Province and Mae Hong Son Province,[31]Blang from Chiang Rai Province,[31]Mon from Ratchaburi Province[31]), Vietnam (Phù Lá, Hà Nhì)
A18 – Japan, China (Han from Fujian, Han from Beijing, Han from Lanzhou[33]), Romania
A19 – China (Han from Beijing, etc.)
A20 – Japan, Han Chinese (Denver)
A21 – Tibet (Sherpa, Deng, etc.), Jammu and Kashmir
A22 – China, Han Chinese (Denver)
A24 – China (Han in Beijing), Turkey, Czech Republic (West Bohemia)
A25 – Japan (Chiba), China, Yakut (Vilyuy River basin)
A26 – Denmark
A3 – Japan (Tokyo, etc.), Korea [TMRCA 6,800 (95% CI 3,200 <-> 12,600) ybp[1]]
A3a – Japan (Aichi, etc.) [TMRCA 4,300 (95% CI 1,400 <-> 9,800) ybp[1]]
A10 – China (Uyghur), Afghanistan (Hazara, Uzbek), Russia (Mansi, Volga Tatars, etc.), France, Canada, New York [TMRCA 9,200 (95% CI 4,900 <-> 15,600) ybp[1]]
Eva Longoria, an American actress of Mexican descent, belongs to Haplogroup A2.[46]Michelle Rodriguez, an American actress with a Dominican mother, is likewise in A2.[47]
^ abcdefghijklmnopqrstuvwxyzMiroslava 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
^ abcVille 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
^ 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
^ abcdefghiQing-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
^ abcdefghiKazuo 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, Masaru; Umetsu, Kazuo; Adachi, Noboru; Azumi, Jun-ichi; Shimizu, Keiko; Shiono, Hiroshi (September 2007). "Utility of haplogroup determination for forensic mtDNA analysis in the Japanese population". Legal Medicine. 9 (5): 237–240. doi:10.1016/j.legalmed.2007.01.007. PMID17467322.
^ abcdKristina 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
^ abS. Pischedda, R. Barral-Arca, A. Gómez-Carballa, et al. (2017), "Phylogeographic and genome-wide investigations of Vietnam ethnic groups reveal signatures of complex historical demographic movements." Scientific Reports volume 7, Article number: 12630 (2017).
^ abcdefKristiina Tambets, Bayazit Yunusbayev, Georgi Hudjashov, et al. (2018), "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
^ abPham VH, Nguyen VL, Jung HE, Cho YS, Shin JG. "The frequency of the known mitochondrial variants associated with drug-induced toxicity in a Korean population." BMC Med Genomics. 2022 Jan 3;15(1):3. doi: 10.1186/s12920-021-01153-0. PMID 34980117; PMCID: PMC8722126.
^ abcDuggan AT, Whitten M, Wiebe V, Crawford M, Butthof A, et al. (2013), "Investigating the Prehistory of Tungusic Peoples of Siberia and the Amur-Ussuri Region with Complete mtDNA Genome Sequences and Y-chromosomal Markers." PLoS ONE 8(12): e83570. doi:10.1371/journal.pone.0083570
^Marchi, N., Hegay, T., Mennecier, P., Georges, M., Laurent, R., Whitten, M., Endicott, P., Aldashev, A., Dorzhu, C., Nasyrova, F., Chichlo, B., Segurel, L. and Heyer, E., "Sex-specific genetic diversity is shaped by cultural factors in Inner Asian human populations." Am. J. Phys. Anthropol. (2017)
^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)
^Endre Neparáczki, Klaudia Kocsy, Gábor Endre Tóth, Zoltán Maróti, Tibor Kalmár, Péter Bihari, István Nagy, György Pálfi, Erika Molnár, István Raskó, and Tibor Török, "Revising mtDNA haplotypes of the ancient Hungarian conquerors with next generation sequencing." PLoS ONE 12(4): e0174886. https://doi.org/10.1371/journal.pone.0174886
^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
^Filipa Simão, Christina Strobl, Carlos Vullo, et al., "The maternal inheritance of Alto Paraná revealed by full mitogenome sequences." FSI Genetics Volume 39, P66-72, March 01, 2019. Published online December 19, 2018. DOI:https://doi.org/10.1016/j.fsigen.2018.12.007
^ abcdeWibhu Kutanan, Jatupol Kampuansai, Metawee Srikummool, Daoroong Kangwanpong, Silvia Ghirotto, Andrea Brunelli, and Mark Stoneking, "Complete mitochondrial genomes of Thai and Lao populations indicate an ancient origin of Austroasiatic groups and demic diffusion in the spread of Tai–Kadai languages." Hum Genet 2016 DOI 10.1007/s00439-016-1742-y.
^ abWibhu Kutanan, Rasmi Shoocongdej, Metawee Srikummool, et al. (2020), "Cultural variation impacts paternal and maternal genetic lineages of the Hmong-Mien and Sino-Tibetan groups from Thailand." European Journal of Human Genetics. https://doi.org/10.1038/s41431-020-0693-x
^ abcHongbin Yao, Mengge Wang, Xing Zou, et al., "New insights into the fine-scale history of western-eastern admixture of the northwestern Chinese population in the Hexi Corridor via genome-wide genetic legacy." Mol Genet Genomics 2021 Mar 1. doi: 10.1007/s00438-021-01767-0.
^Qing-Peng Kong, Hans-Jürgen Bandelt, Chang Sun, et al., "Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations." Human Molecular Genetics, 2006, Vol. 15, No. 13 2076–2086. doi:10.1093/hmg/ddl130
^ abHwan Young Lee, Ji-Eun Yoo, Myung Jin Park, Ukhee Chung, Chong-Youl Kim, and Kyoung-Jin Shin, "East Asian mtDNA haplogroup determination in Koreans: Haplogroup-level coding region SNP analysis and subhaplogroup-level control region sequence analysis." Electrophoresis (2006). DOI 10.1002/elps.200600151.
^Two skeletons, one each from CA-MNT-1489 and CA-MNT-1931, Late Period archeological sites located in Rancho San Carlos, inland from Carmel and south of the Carmel River, were both determined to be of haplotype A01 (Breschini and Haversat 2004).[38] An adult and child, dating from Cal BP 200, buried at CA-MNT-831, a site in Pacific Grove, on the Monterey Peninsula, both belonged to haplogroup D01 (Breschini and Haversat 2004).[38] Of four Ohlone mtDNA lineages identified by Johnson and Lorenz (2006),[37] two belonged to haplogroup C, one each to haplogroups B and D, and none to haplogroup A. Of these eight Ohlone individuals, two belonged to haplogroup A.
A10 Ancient DNA – Ancient Chumash Paleoasiatic remains. A10 haplogroup assignment. www.pcas.org/assets/docu Results of Mitochondrial DNA Analyses from Monterey County, California
A10 In the Johnson & Lorenz (2006) study, case JJ168 (haploTYPE A10), does not qualify the PhyloTree.org criteria to be classified as belonging to haploGROUP A10. In HVR1 (the only region their research tested), JJ168 does not present criterion mutations 16227c nor 16311.
