Biology:Haplogroup E (mtDNA)
Haplogroup E | |
---|---|
Possible time of origin | 35,000[1] to 8,000[2] YBP |
Possible place of origin | east Sundaland[1] or Fujian coast[2] |
Ancestor | M9 |
Descendants | E1, E2 |
Defining mutations | 3027, 3705, 7598, 13626, 16390[3] |
In human mitochondrial genetics, haplogroup E is a human mitochondrial DNA (mtDNA) haplogroup typical for the Malay Archipelago. It is a subgroup of haplogroup M9.
Origin
Two contrasting proposals have been made for the location and time of the origin of Haplogroup E. One view is that the clade was formed over 30,000 years ago, around the time of the Last Glacial Maximum, on the northeast coast of Sundaland (near modern Borneo). In this model, the haplogroup was dispersed by rising sea levels during the Late Glacial period.[1][4]
In 2014, the mitochondrial DNA of an 8,000-year-old skeleton found on Liang Island, one of the Matsu Islands off the southeast China coast, was found to belong to Haplogroup E, with two of the four mutations characteristic of the E1 subgroup. From this, Ko and colleagues argue that Haplogroup E arose 8,000 to 11,000 years ago near the north Fujian coast, travelled to Taiwan with Neolithic settlers 6,000 years ago, and from there spread to Maritime Southeast Asia with the Austronesian language dispersal.[2] Soares et al caution against over-emphasizing a single sample, and maintain that a constant molecular clock implies the earlier date (and more southerly origin) remains more likely.[5]
Distribution
Haplogroup E is found throughout Maritime Southeast Asia.[4] It is nearly absent from mainland East Asia, where its sister group M9a (also found in Japan) is common.[4][6] In particular, it is found among speakers of Austronesian languages, and it is rare even in Southeast Asia among speakers of other language families. It has been detected in populations of Taiwan, the Philippines , Indonesia, Malaysia (including Sabah of Borneo, but not the Orang Asli of peninsular Malaysia), coastal Papua New Guinea, and especially in the Chamorros of the Mariana Islands.[4][7][8][9][10][11]
Of the four principal subclades, E1b and E2a are found mainly in Maritime Southeast Asia, while only E1a and E2b are also found in Taiwan.[12] E2b has low diversity within Taiwan, suggesting that it arrived there about 5,000 years ago.[12] The most common E subclade, E1a1a, has highest diversity in Taiwan, followed by the Philippines and Sulawesi. Moreover, other branches of E1a1 are largely confined to Taiwan.[13]
Population | Frequency | Count | Source | Subtypes |
---|---|---|---|---|
Chamorro (85 Guam, 14 Saipan, & 6 Rota) | 0.924 | 105 | Vilar et al 2013 | E2a=68, E1a2=29 |
East Indonesian (Sulawesi, incl. 89 Manado, 64 Toraja, 46 Ujung Padang, & 38 Palu) | 0.266 | 237 | Hill et al 2007 | E1a=42, E1b=9, E2=7, E1(xE1a, E1b)=5 |
Filipino (Mindanao) | 0.214 | 70 | Tabbada et al 2010, p. 24 | E1a1a=10, E2(xE2b)=4, E1b=1 |
Filipino (Visayas) | 0.214 | 112 | Tabbada et al 2010, p. 24 | E1a1a=18, E2(xE2b)=5, E1(xE1a1a, E1a2, E1b)=1 |
East Indonesian (Ambon) | 0.163 | 43 | Hill et al 2007 | E1(xE1a, E1b)=3, E1a=2, E2=2 |
East Indonesian (Waingapu, Sumba) | 0.160 | 50 | Hill et al 2007 | E1b=6, E1a=1, E2=1 |
Indonesian (Bangka) | 0.147 | 34 | Hill et al 2006 | E=5 |
Borneo (89 Banjarmasin & 68 Kota Kinabalu) | 0.146 | 157 | Hill et al 2007 | E1a=14, E2=5, E1b=3, E1(xE1a, E1b)=1 |
Filipino | 0.125 | 64 | Tabbada et al 2010, p. 24 | E1a1a=5, E2(xE2b)=2, E1a2=1 |
Filipino (Luzon) | 0.124 | 177 | Tabbada et al 2010, p. 24 | E1a1a=14, E1b=5, E2(xE2b)=2, E2b=1 |
Taiwan (aborigine) | 0.120 | 640 | Peng et al 2011 | E=77 |
East Indonesian (Alor) | 0.111 | 45 | Hill et al 2007 | E1a=3, E1b=2 |
East Indonesian (Mataram, Lombok) | 0.091 | 44 | Hill et al 2007 | E1b=3, E1a=1 |
Indonesian (Padang, Sumatra) | 0.083 | 24 | Hill et al 2006 | E=2 |
Indonesian (Medan, Sumatra) | 0.071 | 42 | Hill et al 2006 | E=3 |
Indonesian (Pekanbaru, Medan, Bangka, Palembang, & Padang) | 0.067 | 180 | Hill et al 2007 | E1a=6, E1b=4, E1(xE1a, E1b)=1, E2=1 |
Indonesian (Bali) | 0.061 | 82 | Hill et al 2007 | E1a=3, E1b=1, E1(xE1a, E1b)=1 |
Filipino (Palawan) | 0.050 | 20 | Scholes et al 2011 | E1a=1 |
Indonesian (Palembang, Sumatra) | 0.036 | 28 | Hill et al 2006 | E=1 |
Tujia (Yanhe County, Guizhou) | 0.034 | 29 | Li et al 2007 | E=1 |
Gelao (Daozhen County, Guizhou) | 0.032 | 31 | Li et al 2007 | E=1 |
Indonesian (Java, incl. 36 from Tengger) | 0.022 | 46 | Hill et al 2007 | E1b=1 |
Indonesian (Pekanbaru, Sumatra) | 0.019 | 52 | Hill et al 2006 | E=1 |
Cham (Bình Thuận, Vietnam) | 0.012 | 168 | Peng et al 2010 | E1a1a=1, E2a=1 |
Carolinian (Saipan) | 0.000 | 17 | Vilar et al 2013 | - |
Yi (Hezhang County, Guizhou) | 0.000 | 20 | Li et al 2007 | - |
Dong (Tianzhu County, Guizhou) | 0.000 | 28 | Li et al 2007 | - |
Batek (Malaysia) | 0.000 | 29 | Hill et al 2006 | - |
Cun (Hainan) | 0.000 | 30 | Peng et al 2011 | - |
Batak (Palawan) | 0.000 | 31 | Scholes et al 2011 | - |
Lingao (Hainan) | 0.000 | 31 | Peng et al 2011 | - |
Mendriq (Malaysia) | 0.000 | 32 | Hill et al 2006 | - |
Temuan (Malaysia) | 0.000 | 33 | Hill et al 2006 | - |
Danga (Hainan) | 0.000 | 40 | Peng et al 2011 | - |
Jahai (Malaysia) | 0.000 | 51 | Hill et al 2006 | - |
Senoi (Malaysia) | 0.000 | 52 | Hill et al 2006 | - |
Semelai (Malaysia) | 0.000 | 61 | Hill et al 2006 | - |
Gelao (Daozhen County, Guizhou) | 0.000 | 102 | Liu et al 2011 | - |
Li (Hainan) | 0.000 | 346 | Peng et al 2011 | - |
Subclades
This phylogenetic tree of haplogroup E 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.
- E
- E1
- E1a
- E1a1
- E1a1a
- E1a1a1
- E1a1a
- E1a2
- E1a1
- E1b
- E1b1
- E1a
- E2
- E2a
- E2b
- E2b1
- E2b2
- E1
See also
- Genealogical DNA test
- Genetic genealogy
- Human mitochondrial genetics
- Population genetics
- Human mitochondrial DNA haplogroups
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
- ↑ 1.0 1.1 1.2 Soares et al 2008, p. 1215.
- ↑ 2.0 2.1 2.2 Ko et al 2014.
- ↑ 3.0 3.1 van Oven & Kayser 2008.
- ↑ 4.0 4.1 4.2 4.3 Hill et al 2007.
- ↑ Soares et al 2016.
- ↑ Trejaut et al 2005.
- ↑ Tabbada et al 2010, pp. 24, 28.
- ↑ Peng et al 2010.
- ↑ Hill et al 2006.
- ↑ Vilar et al 2013.
- ↑ Peng et al 2011.
- ↑ 12.0 12.1 Soares et al 2008, p. 1213.
- ↑ Tabbada et al 2010, p. 29.
- Hill, Catherine; Soares, Pedro; Mormina, Maru; Macaulay, Vincent; Meehan, William; Blackburn, James; Clarke, Douglas; Raja, Joseph Maripa et al. (2006). "Phylogeography and Ethnogenesis of Aboriginal Southeast Asians". Molecular Biology and Evolution 23 (12): 2480–2491. doi:10.1093/molbev/msl124. PMID 16982817.
- Hill, Catherine; Soares, Pedro; Mormina, Maru; Macaulay, Vincent; Clarke, Dougie; Blumbach, Petya B.; Vizuete-Forster, Matthieu; Forster, Peter et al. (2007). "A Mitochondrial Stratigraphy for Island Southeast Asia". American Journal of Human Genetics 80 (1): 29–43. doi:10.1086/510412. PMID 17160892.
- Ko, Albert Min-Shan; Chen, Chung-Yu; Fu, Qiaomei; Delfin, Frederick; Li, Mingkun; Chiu, Hung-Lin; Stoneking, Mark; Ko, Ying-Chin (2014). "Early Austronesians: into and out of Taiwan". The American Journal of Human Genetics 94 (3): 426–436. doi:10.1016/j.ajhg.2014.02.003. PMID 24607387.
- Li, Binbin; Zhong, Fuguang; Yi, Hongsheng; Wang, Xianran; Li, Liangfang; Wang, Lilan; Qi, Xiaolan; Wu, Lifu (2007). "Genetic Polymorphism of Mitochondrial DNA in Dong, Gelao, Tujia, and Yi Ethnic Populations from Guizhou, China". Journal of Genetics and Genomics 34 (9): 800–811. doi:10.1016/S1673-8527(07)60091-5. PMID 17884690.
- Liu, Chang; Wang, Sha-Yan; Zhao, Mian; Xu, Zhi-Yong; Hu, Yu-Hua; Chen, Feng; Zhang, Ruan-Zhang; Gao, Guo-Feng et al. (2011). "Mitochondrial DNA polymorphisms in Gelao ethnic group residing in Southwest China". Forensic Science International: Genetics 5 (1): PE4–E10. doi:10.1016/j.fsigen.2010.04.007. PMID 20494640.
- Peng, Min-Sheng; Quang, Huy Ho; Dang, Khoa Pham; Trieu, An Vu; Wang, Hua-Wei; Yao, Yong-Gang; Kong, Qing-Peng; Zhang, Ya-Ping (2010). "Tracing the Austronesian Footprint in Mainland Southeast Asia: A Perspective from Mitochondrial DNA". Molecular Biology and Evolution 27 (10): 2417–2430. doi:10.1093/molbev/msq131. PMID 20513740.
- Peng, Min-Sheng; He, Jun-Dong; Liu, Hai-Xin; Zhang, Ya-Ping (2011). "Tracing the legacy of the early Hainan Islanders – a perspective from mitochondrial DNA". BMC Evolutionary Biology 11 (46): 46. doi:10.1186/1471-2148-11-46. PMID 21324107. Bibcode: 2011BMCEE..11...46P.
- Scholes, Clarissa; Siddle, Katherine; Ducourneau, Axel; Crivellaro, Federica; Järve, Mari; Rootsi, Siiri; Bellatti, Maggie; Tabbada, Kristina et al. (2011). "Genetic Diversity and Evidence for Population Admixture in Batak Negritos from Palawan". American Journal of Physical Anthropology 146 (1): 62–72. doi:10.1002/ajpa.21544. PMID 21796613.
- Soares, Pedro; Trejaut, Jean Alain; Loo, Jun-Hun; Hill, Catherine; Mormina, Maru; Lee, Chien-Liang; Chen, Yao-Ming; Hudjashov, Georgi et al. (2008). "Climate Change and Postglacial Human Dispersals in Southeast Asia". Molecular Biology and Evolution 25 (6): 1209–1218. doi:10.1093/molbev/msn068. PMID 18359946.
- Soares, Pedro A.; Trejaut, Jean A.; Rito, Teresa; Cavadas, Bruno; Hill, Catherine; Eng, Ken Khong; Mormina, Maru; Brandão, Andreia et al. (2016). "Resolving the ancestry of Austronesian-speaking populations". Human Genetics 135 (3): 309–326. doi:10.1007/s00439-015-1620-z. PMID 26781090.
- Tabbada, Kristina A.; Trejaut, Jean; Loo, Jun-Hun; Chen, Yao-Ming; Lin, Marie; Mirazón-Lahr, Marta; Kivisild, Toomas; De Ungria, Maria Corazon A. (2010). "Philippine Mitochondrial DNA Diversity: A Populated Viaduct between Taiwan and Indonesia?". Molecular Biology and Evolution 27 (1): 21–31. doi:10.1093/molbev/msp215. PMID 19755666.
- Trejaut, Jean A.; Kivisild, Toomas; Loo, Jun Hun; Lee, Chien Liang; He, Chun Lin; Hsu, Chia Jung; Lee, Zheng Yuan; Lin, Marie (2005). "Traces of Archaic Mitochondrial Lineages Persist in Austronesian-Speaking Formosan Populations". PLOS Biology 3 (8): e247. doi:10.1371/journal.pbio.0030247. PMID 15984912.
- van Oven, Mannis; Kayser, Manfred (2008). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation 30 (2): E386–E394. doi:10.1002/humu.20921. PMID 18853457.
- Vilar, Miguel G.; Chan, Chim W.; Santos, Dana R.; Lynch, Daniel; Spathis, Rita; Garruto, Ralph M.; Lum, J. Koji (2013). "The Origins and Genetic Distinctiveness of the Chamorros of the Marianas Islands: An mtDNA Perspective". American Journal of Human Biology 25 (1): 116–122. doi:10.1002/ajhb.22349. PMID 23180676.
External links
- General
- Ian Logan's Mitochondrial DNA Site
- Mannis van Oven's Phylotree
- Haplogroup E
- Ballinger, S.W.; Schurr, T.G.; Torroni, A.; Gan, Y.Y.; Hodge, J.A.; Hassan, K.; Chen, K.H.; Wallace, D.C. (1992). "Southeast Asian Mitochondrial DNA Analysis Reveals Genetic Continuity of Ancient Mongoloid Migrations". Genetics 130 (1): 139–152. doi:10.1093/genetics/130.1.139. PMID 1346259.
- Herrnstadt, C.; Elson, J.L.; Fahy, E. et al. (2002). "Reduced-Median-Network Analysis of Complete Mitochondrial DNA Coding-Region Sequences for the Major African, Asian, and European Haplogroups". American Journal of Human Genetics 70 (5): 1152–1171. doi:10.1086/339933. PMID 11938495.
- Ingman, M.; Kaessmann, H.; Pääbo, S.; Gyllensten, U. (2000). "Mitochondrial genome variation and the origin of modern humans". Nature 408 (6813): 708–713. doi:10.1038/35047064. PMID 11130070. Bibcode: 2000Natur.408..708I.
- Stoneking, M.; Jorde, L.B.; Bhatia, K.; Wilson, A.C. (1990). "Geographic Variation in Human Mitochondrial DNA from Papua New Guinea". Genetics 124 (3): 717–733. doi:10.1093/genetics/124.3.717. PMID 1968873.
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