Haplogroup A (mtDNA)
Haplogroup A | |
---|---|
Possible time of origin | 40,000 ± 10,000 YBP 40,500 (95% CI 37,900 ↔ 43,200) ybp[1] |
Coalescence age | 18,600 (95% CI 14,200 ↔ 23,900) ybp[1] 24,209 (SD 4,906) ybp[2] |
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[3] |
In human mitochondrial genetics, Haplogroup A is a human mitochondrial DNA (mtDNA) haplogroup.
Origin
[edit]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
[edit]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
[edit]Tree
[edit]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)
- A+T152C!+T16362C — Uyghur, Korea, Japan, Vietnam (Hmong from Lao Cai Province,[20] Kinh from Hanoi,[20] Cờ Lao)
- A1 [TMRCA 12,800 (95% CI 6,500 ↔ 22,700) ybp[1]]
- A1* — Japan, Korea
- A1a [TMRCA 7,500 (95% CI 4,500 ↔ 11,800) ybp[1]]
- A1a* — Japan (Aichi), Sarikoli (Tashkurgan), USA, England
- A1a1 [TMRCA 5,000 (95% CI 2,200 ↔ 9,800) ybp[1]]
- A1a1* — Buryat, Altai Kizhi
- A1a1a — Buryat, Mongol (Inner Mongolia) [TMRCA 1,050 (95% CI 75 ↔ 5,500) ybp[1]]
- A1a2 — Russia (Bashkortostan, Velikij Novgorod), Iran (Turkmen) [TMRCA 1,950 (95% CI 100 ↔ 10,500) ybp[1]]
- A1a3 — Greece (Ioannina), United States (West Virginia) [TMRCA 1,150 (95% CI 75 ↔ 6,000) ybp[1]]
- A2 — Ache, Waiwai, Zoro, Surui, Waiapi, Poturujara, Kayapo, Katuena, Guarani, Arsario, Cayapa, Dogrib, ancient Canada, USA (Pennsylvania, California), Mexico (Zapotec), Cuba, Dominican Republic, Colombia, Venezuela, Ecuador, Peru, Argentina [TMRCA 10,600 (95% CI 9,600 ↔ 11,700) ybp[1]]
- A2a — Eskimo (Greenland, Chukotka), Chukchi
- A2a1 — Inuit (Canada), Selkup[21]
- A2a2 — Eskimo (Chukotka), Chukchi
- A2a3 — Eskimo (Greenland, Canada, Chukotka), Chukchi
- A2a4 — USA (New Mexico, Arizona), Mexico (Chihuahua)
- A2a5 — Apache, USA (California, Arizona, New Mexico, Texas), Canada (Cree, Shuswap)
- A2b — Chukchi
- A2b1 — Chukchi, Koryak, Eskimo (Chukotka, Canada, Greenland)
- A2c
- A2d — USA (Mexican, Hispanic)
- A2d1 — USA (Mexican)
- A2d1a — USA (Hispanic)
- A2d2 — USA (Hispanic)
- A2d1 — USA (Mexican)
- A2e'ao
- A2e
- A2ao
- A2ao1
- A2f
- A2f1 — Newfoundland
- A2f1a — Canada, USA (Native American)
- A2f2 — USA (Mexican, Hispanic), Mexico
- A2f3 — USA (Mexican, Hispanic)
- A2f1 — Newfoundland
- A2g — USA (Mexican, Hispanic), Mexico, Iberian Peninsula
- A2g1 — USA (Mexican, Hispanic), Latin America
- A2h — Colombia (Cocama of Amazonas, Arhuaco), Yanomama, Kogui
- A2h1 — USA (Mexican, Hispanic), Mexico, Latin America
- A2i — USA (Hispanic, etc.), Canada (Ojibwa, Prince Edward Island, Pabos in Quebec)
- A2j — USA (Hispanic)
- A2j1 — USA (Hispanic)
- A2k — USA (Puerto Rico)
- A2k1 — Ecuador, Wayuu, Mexico
- A2k1a — Venezuela, Colombia (Pasto of Putumayo), USA (Hispanic)
- A2k1 — Ecuador, Wayuu, Mexico
- A2l'm'n'o'ai'aj
- A2l
- A2m
- A2n — Canada
- A2o
- A2ai
- A2aj
- A2p'am
- A2q
- A2q1
- A2r — USA (Hispanic, Mexican), Cuba
- A2r1 — Mexico, USA (Mexican)
- A2s
- A2t — USA (Mexican)
- A2u
- A2u1
- A2u2
- A2v
- A2v1 — USA (Mexican, Hispanic), Mexico (La Mixteca)
- A2v1a — Guatemala, USA (Mexican)
- A2v1b — Mexico
- A2v1 — USA (Mexican, Hispanic), Mexico (La Mixteca)
- A2w — Colombia (Kogi, Guambiano of Putumayo), Arsario, USA (Mexican, Hispanic)
- A2w1 — Mexico, Cayman Islands, Guatemala (La Tinta), Panama (Guaymi), Colombia
- A2x
- A2y
- A2z — USA (Hispanic, Puerto Rico)
- A2aa
- A2ab
- A2ac
- A2ac1
- A2ad
- A2ad1
- A2ad2
- A2ae
- A2af
- A2af1
- A2af1a
- A2af1a1
- A2af1a2
- A2af1b
- A2af1b1
- A2af1b1a
- A2af1b1b
- A2af1b2
- A2af1b1
- A2af1a
- A2af2
- A2af1
- A2ag
- A2ah
- A2ak
- A2al
- A2an
- A2ap
- A2aq
- A2a — Eskimo (Greenland, Chukotka), Chukchi
- A6 [TMRCA 12,000 (95% CI 8,600 ↔ 16,100) ybp[1]]
- A12'23 — Austria, Romania, Poland, Russia, possibly found among Udmurts and Komis[21]
- A12 — Czech Republic, Germany [TMRCA 11,800 (95% CI 6,500 ↔ 19,700) ybp[1]]
- A12a — Ireland, UK, New Zealand, USA, Nenets,[21] Selkup[21] [TMRCA 4,700 (95% CI 2,700 ↔ 7,600) ybp[1]]
- A12a* — Mansi, Yakut (Vilyuy River basin),[24] Kyrgyz (Kyrgyzstan)[25]
- A12a1 — Kyordyughen Site (Ymyiakhtakh Culture, Yakutia),[26] Hungary (Debrecen) [TMRCA 2,800 (95% CI 1,450 ↔ 4,900) ybp[1]]
- A12a2 — Evenk (Krasnoyarsk Krai,[6] Stony Tunguska River basin[24]) [TMRCA 1,250 (95% CI 100 ↔ 6,600) ybp[1]]
- A12b — Buryat,[6] Karos-Eperjesszög (Hungarian conqueror period)[27] [TMRCA 3,000 (95% CI 425 ↔ 10,700) ybp[1]]
- A12a — Ireland, UK, New Zealand, USA, Nenets,[21] Selkup[21] [TMRCA 4,700 (95% CI 2,700 ↔ 7,600) ybp[1]]
- A23 — Mongol (Inner Mongolia),[28] Buryat,[6] Ket,[21] Qashqai (Iran),[29] ancient Scythian (Chylenski) [TMRCA 6,200 (95% CI 3,300 ↔ 10,600) ybp[1]]
- A12 — Czech Republic, Germany [TMRCA 11,800 (95% CI 6,500 ↔ 19,700) ybp[1]]
- A13'14 — Russia (Buryat, Khamnigan), China (Shiyan, Tu, Uyghur, etc.), Ladakh, Thailand, Vietnam (Mang), Korea, Japan, Paraguay (Alto Parana[30][1]), Ireland
- A13
- A13a — Thailand (Khon Mueang from Chiang Rai Province and Lampang Province[31][1]), China[1]
- A13b
- 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)
- A13
- A15 — Uyghur
- 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
- A1 [TMRCA 12,800 (95% CI 6,500 ↔ 22,700) ybp[1]]
- 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]]
- A7 [TMRCA 8,800 (95% CI 5,400 ↔ 13,500) ybp[1]]
- A9
- A11 — Nepal, Korea,[1] Russia [TMRCA 14,500 (95% CI 9,700 ↔ 20,800) ybp[1]]
- A+T152C!+T16362C — Uyghur, Korea, Japan, Vietnam (Hmong from Lao Cai Province,[20] Kinh from Hanoi,[20] Cờ Lao)
- A5 — China (incl. Hong Kong), Japan [TMRCA 16,200 (95% CI 11,100 ↔ 22,800) ybp]
- A5a — Japan (Tokyo, Aichi, etc.), Korea, China [TMRCA 5,500 (95% CI 3,800 ↔ 7,600) ybp[1]]
- A5a1 — Korea
- A5a1a — Japan (Tokyo, etc.), Korea
- A5a1a1 — Japan (Tokyo, Chiba, Aichi, etc.), Korea[34]
- A5a1a1a — Japan (Tokyo, etc.)
- A5a1a1b — Japan (Tokyo, Chiba, etc.), Korea
- A5a1a2 — Japan, Korea
- A5a1a2a — Japan (Aichi)
- A5a1a1 — Japan (Tokyo, Chiba, Aichi, etc.), Korea[34]
- A5a1b — Japan (Tokyo, Aichi)
- A5a1a — Japan (Tokyo, etc.), Korea
- A5a2 — Japan (Tokyo, Aichi, etc.)
- A5a3
- A5a3* — Korea, USA (African American)
- A5a3a
- A5a3a* — Japan (Tokyo)
- A5a3a1 — Japan (Tokyo, Aichi, etc.)
- A5a4 — Japan
- A5a5 — Japan, South Korea (Seoul), Uyghur
- A5a1 — Korea
- A5b — China (Tujia, Hui, etc.) [TMRCA 12,800 ybp (95% CI 8,400 ↔ 18,800) ybp[1]]
- A5b1 — China (Han from Beijing, etc.), Japan, Korea, Uyghur, Thailand, Vietnam (Tay), Singapore [TMRCA 8,600 (95% CI 6,600 ↔ 11,100) ybp[1]]
- A5b1* — Uyghur
- A5b1a — Japan (Tokyo, etc.), Korea[23] [TMRCA 6,700 (95% CI 3,700 ↔ 11,300) ybp[1]]
- A5b1b — China (Han from Fujian, Miao, etc.), Uyghur, Korea[35] [TMRCA 7,300 (95% CI 5,600 ↔ 9,400) ybp[1]]
- A5b1b* — Han Chinese
- A5b1b1
- A5b1b1* — Miao
- A5b1b1a — China
- A5b1b1b — China
- A5b1b2 — Uyghur
- A5b1c — Han Chinese (Denver) [TMRCA 7,600 (95% CI 3,100 ↔ 15,500) ybp[1]]
- A5b1c1 — Taiwan (Hakka, Bunun, Paiwan) [TMRCA 5,400 (95% CI 1,800 ↔ 12,600) ybp[1]]
- A5b1d [TMRCA 7,300 (95% CI 3,700 ↔ 13,000) ybp[1]]
- A5b1d* — China
- A5b1d1 — Siamese (Central Thailand), Tay (Vietnam)
- A5b2 — China (Tujia, etc.)
- A5b1 — China (Han from Beijing, etc.), Japan, Korea, Uyghur, Thailand, Vietnam (Tay), Singapore [TMRCA 8,600 (95% CI 6,600 ↔ 11,100) ybp[1]]
- A5c — Japan (Aichi, etc.), Korea,[35] Khamnigan, Buryat, Barghut[1] [TMRCA 8,200 (95% CI 4,800 ↔ 13,000) ybp[1]]
- A5c1 — Japan (Tokyo, Chiba, Aichi, etc.)
- A5a — Japan (Tokyo, Aichi, etc.), Korea, China [TMRCA 5,500 (95% CI 3,800 ↔ 7,600) ybp[1]]
- A8 — Uyghur [TMRCA 14,000 (95% CI 9,500 ↔ 19,800) 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]]
- A(xA5, A8, A10) — China (Han from Wuhan), Buryat (Inner Mongolia)
Table of Frequencies of MtDNA Haplogroup A
[edit]Popular culture
[edit]The mummy "Juanita" of Peru, also called the "Ice Maiden", has been shown to belong to mitochondrial haplogroup A.[43][44]
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, belongs to Haplogroup A2.[45] Michelle Rodriguez, an American actress with a Dominican mother, is likewise in A2.[46]
See also
[edit]- Genealogical DNA test
- Genetic genealogy
- Human mitochondrial genetics
- Population genetics
- Indigenous Amerindian genetics
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 |
References
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- ^ 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. PMC 7864882. PMID 33361817.
- ^ a b Pham VH, Nguyen VL, Jung HE, Cho YS, Shin JG (January 2022). "The frequency of the known mitochondrial variants associated with drug-induced toxicity in a Korean population". BMC Med Genomics. 15 (1): 3. doi:10.1186/s12920-021-01153-0. PMC 8722126. PMID 34980117.
- ^ a b c d e Duggan, Ana T.; Whitten, Mark; Wiebe, Victor; Crawford, Michael; Butthof, Anne; Spitsyn, Victor; Makarov, Sergey; Novgorodov, Innokentiy; Osakovsky, Vladimir; Pakendorf, Brigitte (2013-12-12). "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. Bibcode:2013PLoSO...883570D. doi:10.1371/journal.pone.0083570. PMC 3861515. PMID 24349531.
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External links
[edit]- General
- Ian Logan's Mitochondrial DNA Site
- Mannis van Oven's Phylotree
- Haplogroup A
- YFull MTree's Haplogroup A
- MITOMAP's Haplogroup A
- FamilyTreeDNA's mtDNA Haplotree: Haplogroup A
- Tamm E, Kivisild T, Reidla M, Metspalu M, Smith DG, Mulligan CJ, Bravi CM, Rickards O, Martinez-Labarga C, Khusnutdinova EK, Fedorova SA, Golubenko MV, Stepanov VA, Gubina MA, Zhadanov SI, Ossipova LP, Damba L, Voevoda MI, Dipierri JE, Villems R, Malhi RS (September 2007). "Beringian standstill and spread of Native American founders". PLOS ONE. 2 (9): e829. Bibcode:2007PLoSO...2..829T. doi:10.1371/journal.pone.0000829. PMC 1952074. PMID 17786201.
- Spread of Haplogroup A, from National Geographic
- Aiyana