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.[45]Michelle Rodriguez, an American actress with a Dominican mother, is likewise in A2.[46]
^ abcPimenoff VN, Comas D, Palo JU, Vershubsky G, Kozlov A, Sajantila A (October 2008). "Northwest Siberian Khanty and Mansi in the junction of West and East Eurasian gene pools as revealed by uniparental markers". Eur J Hum Genet. 16 (10): 1254–64. doi:10.1038/ejhg.2008.101. PMID18506205.
^ abcdefghiKong QP, Yao YG, Liu M, Shen SP, Chen C, Zhu CL, Palanichamy MG, Zhang YP (October 2003). "Mitochondrial DNA sequence polymorphisms of five ethnic populations from northern China". Hum Genet. 113 (5): 391–405. doi:10.1007/s00439-003-1004-7. PMID12938036.
^ abcdefghiUmetsu K, Tanaka M, Yuasa I, Adachi N, Miyoshi A, Kashimura S, Park KS, Wei YH, Watanabe G, Osawa M (January 2005). "Multiplex amplified product-length polymorphism analysis of 36 mitochondrial single-nucleotide polymorphisms for haplogrouping of East Asian populations". Electrophoresis. 26 (1): 91–8. doi:10.1002/elps.200406129. PMID15624129.
^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.
^ abcdTabbada KA, Trejaut J, Loo JH, Chen YM, Lin M, Mirazón-Lahr M, Kivisild T, De Ungria MC (January 2010). "Philippine mitochondrial DNA diversity: a populated viaduct between Taiwan and Indonesia?". Mol Biol Evol. 27 (1): 21–31. doi:10.1093/molbev/msp215. PMID19755666.
^ abcdefTambets K, Yunusbayev B, Hudjashov G, Ilumäe AM, Rootsi S, Honkola T, Vesakoski O, Atkinson Q, Skoglund P, Kushniarevich A, Litvinov S, Reidla M, Metspalu E, Saag L, Rantanen T, Karmin M, Parik J, Zhadanov SI, Gubina M, Damba LD, Bermisheva M, Reisberg T, Dibirova K, Evseeva I, Nelis M, Klovins J, Metspalu A, Esko T, Balanovsky O, Balanovska E, Khusnutdinova EK, Osipova LP, Voevoda M, Villems R, Kivisild T, Metspalu M (September 2018). "Genes reveal traces of common recent demographic history for most of the Uralic-speaking populations". Genome Biol. 19 (1): 139. doi:10.1186/s13059-018-1522-1. PMC6151024. PMID30241495.
^Fernandes DM, Sirak KA, Ringbauer H, Sedig J, Rohland N, Cheronet O, Mah M, Mallick S, Olalde I, Culleton BJ, Adamski N, Bernardos R, Bravo G, Broomandkhoshbacht N, Callan K, Candilio F, Demetz L, Carlson KS, Eccles L, Freilich S, George RJ, Lawson AM, Mandl K, Marzaioli F, McCool WC, Oppenheimer J, Özdogan KT, Schattke C, Schmidt R, Stewardson K, Terrasi F, Zalzala F, Antúnez CA, Canosa EV, Colten R, Cucina A, Genchi F, Kraan C, La Pastina F, Lucci M, Maggiolo MV, Marcheco-Teruel B, Maria CT, Martínez C, París I, Pateman M, Simms TM, Sivoli CG, Vilar M, Kennett DJ, Keegan WF, Coppa A, Lipson M, Pinhasi R, Reich D (February 2021). "A genetic history of the pre-contact Caribbean". Nature. 590 (7844): 103–110. Bibcode:2021Natur.590..103F. doi:10.1038/s41586-020-03053-2. PMC7864882. PMID33361817.
^Marchi N, Hegay T, Mennecier P, Georges M, Laurent R, Whitten M, Endicott P, Aldashev A, Dorzhu C, Nasyrova F, Chichlo B, Ségurel L, Heyer E (April 2017). "Sex-specific genetic diversity is shaped by cultural factors in Inner Asian human populations". Am J Phys Anthropol. 162 (4): 627–640. doi:10.1002/ajpa.23151. PMID28158897.
^ abcYao H, Wang M, Zou X, Li Y, Yang X, Li A, Yeh HY, Wang P, Wang Z, Bai J, Guo J, Chen J, Ding X, Zhang Y, Lin B, Wang CC, He G (May 2021). "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. 296 (3): 631–651. doi:10.1007/s00438-021-01767-0. PMID33650010.
^Kong QP, Bandelt HJ, Sun C, Yao YG, Salas A, Achilli A, Wang CY, Zhong L, Zhu CL, Wu SF, Torroni A, Zhang YP (July 2006). "Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations". Hum Mol Genet. 15 (13): 2076–86. CiteSeerX10.1.1.332.7264. doi:10.1093/hmg/ddl130. PMID16714301.
^ abLee HY, Yoo JE, Park MJ, Chung U, Kim CY, Shin KJ (November 2006). "East Asian mtDNA haplogroup determination in Koreans: haplogroup-level coding region SNP analysis and subhaplogroup-level control region sequence analysis". Electrophoresis. 27 (22): 4408–18. doi:10.1002/elps.200600151. PMID17058303.
^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 & 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 & Haversat 2004). Of four Ohlone mtDNA lineages identified by Johnson & Lorenz 2006, 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.
^Gates Jr., Henry Louis (2015). Finding Your Roots: The Official Companion to the PBS Series. The University of North Carolina Press. p. 289. ISBN978-1-4696-1801-2.
