Haplogroup E (mtDNA)

Haplogroup E
Possible time of origin 8,000[1] to 39,000[2] YBP
Possible place of origin Indonesia[2] or Fujian coast[1]
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.[2][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 et al infer that Haplogroup E arose 8,000 to 11,000 years ago on 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.[1] 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 members 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 subclades, only E1a and E2b are found in Taiwan.[2]

Frequencies of MtDNA Haplogroup E
Population Frequency Count Source Subtypes
Chamorro (85 Guam, 14 Saipan, & 6 Rota)0.924105Vilar 2013E2a=68, E1a2=29
East Indonesian (Sulawesi, incl. 89 Manado, 64 Toraja, 46 Ujung Padang, & 38 Palu)0.266237Hill 2007E1a=42, E1b=9, E2=7, E1(xE1a, E1b)=5
Filipino (Mindanao)0.21470Tabbada 2010E1a1a=10, E2(xE2b)=4, E1b=1
Filipino (Visayas)0.214112Tabbada 2010E1a1a=18, E2(xE2b)=5, E1(xE1a1a, E1a2, E1b)=1
East Indonesian (Ambon)0.16343Hill 2007E1(xE1a, E1b)=3, E1a=2, E2=2
East Indonesian (Waingapu, Sumba)0.16050Hill 2007E1b=6, E1a=1, E2=1
Indonesian (Bangka)0.14734Hill 2006E=5
Borneo (89 Banjarmasin & 68 Kota Kinabalu)0.146157Hill 2007E1a=14, E2=5, E1b=3, E1(xE1a, E1b)=1
Filipino0.12564Tabbada 2010E1a1a=5, E2(xE2b)=2, E1a2=1
Filipino (Luzon)0.124177Tabbada 2010E1a1a=14, E1b=5, E2(xE2b)=2, E2b=1
Taiwan (aborigine)0.120640Peng 2011E=77
East Indonesian (Alor)0.11145Hill 2007E1a=3, E1b=2
East Indonesian (Mataram, Lombok)0.09144Hill 2007E1b=3, E1a=1
Indonesian (Padang, Sumatra)0.08324Hill 2006E=2
Indonesian (Medan, Sumatra)0.07142Hill 2006E=3
Indonesian (Pekanbaru, Medan, Bangka, Palembang, & Padang)0.067180Hill 2007E1a=6, E1b=4, E1(xE1a, E1b)=1, E2=1
Indonesian (Bali)0.06182Hill 2007E1a=3, E1b=1, E1(xE1a, E1b)=1
Filipino (Palawan)0.05020Scholes 2011E1a=1
Indonesian (Palembang, Sumatra)0.03628Hill 2006E=1
Tujia (Yanhe County, Guizhou)0.03429Li 2007E=1
Gelao (Daozhen County, Guizhou)0.03231Li 2007E=1
Indonesian (Java, incl. 36 from Tengger)0.02246Hill 2007E1b=1
Indonesian (Pekanbaru, Sumatra)0.01952Hill 2006E=1
Cham (Bình Thuận, Vietnam)0.012168Peng 2010E1a1a=1, E2a=1
Carolinian (Saipan)0.00017Vilar 2013-
Yi (Hezhang County, Guizhou)0.00020Li 2007-
Dong (Tianzhu County, Guizhou)0.00028Li 2007-
Batek (Malaysia)0.00029Hill 2006-
Cun (Hainan)0.00030Peng 2011-
Batak (Palawan)0.00031Scholes 2011-
Lingao (Hainan)0.00031Peng 2011-
Mendriq (Malaysia)0.00032Hill 2006-
Temuan (Malaysia)0.00033Hill 2006-
Danga (Hainan)0.00040Peng 2011-
Jahai (Malaysia)0.00051Hill 2006-
Senoi (Malaysia)0.00052Hill 2006-
Semelai (Malaysia)0.00061Hill 2006-
Gelao (Daozhen County, Guizhou)0.000102Liu 2011-
Li (Hainan)0.000346Peng 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. > Hello Ross,

  • E
    • E1
      • E1a
        • E1a1
          • E1a1a
            • E1a1a1
        • E1a2
      • E1b
        • E1b1
    • E2
      • E2a
      • E2b
        • E2b1
        • E2b2

See also

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. 1 2 3 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: 426–436. doi:10.1016/j.ajhg.2014.02.003. PMC 3951936. PMID 24607387.
  2. 1 2 3 4 Soares, Pedro; Trejaut, Jean Alain; Loo, Jun-Hun; Hill, Catherine; Mormina, Maru; Lee, Chien-Liang; Chen, Yao-Ming; Hudjashov, Georgi; Forster, Peter; Macaulay, Vincent; Bulbeck, David; Oppenheimer, Stephen; Lin, Marie; Richards, Martin B. (2008). "Climate Change and Postglacial Human Dispersals in Southeast Asia". Molecular Biology and Evolution. 25 (6): 1209–1218. doi:10.1093/molbev/msn068.
  3. 1 2 van Oven, Mannis; Manfred Kayser (13 Oct 2008). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation. 30 (2): E386–E394. doi:10.1002/humu.20921. PMID 18853457. Retrieved 2009-05-20.
  4. 1 2 3 4 Hill, Catherine; Soares, Pedro; Mormina, Maru; Macaulay, Vincent; Clarke, Dougie; Blumbach, Petya B.; Vizuete-Forster, Matthieu; Forster, Peter; Bulbeck, David; Oppenheimer, Stephen; Richards, Martin (2007). "A Mitochondrial Stratigraphy for Island Southeast Asia". American Journal of Human Genetics. 80: 29–43. doi:10.1086/510412. PMC 1876738. PMID 17160892.
  5. Soares, Pedro A.; Trejaut, Jean A.; Rito, Teresa; Cavadas, Bruno; Hill, Catherine; Eng, Ken Khong; Mormina, Maru; Brandão, Andreia; Fraser, Ross M.; Wang, Tse-Yi; Loo, Jun-Hun; Snell, Christopher; Ko, Tsang-Ming; Amorim, António; Pala, Maria; Macaulay, Vincent; Bulbeck, David; Wilson, James F.; Gusmão, Leonor; Pereira, Luísa; Oppenheimer, Stephen; Lin, Marie; Richards, Martin B. (2016). "Resolving the ancestry of Austronesian-speaking populations". Human Genetics. 135 (3): 309–326. doi:10.1007/s00439-015-1620-z.
  6. Trejaut, Jean A.; Kivisild, Toomas; Loo, Jun Hun; Lee, Chien Liang; He, Chun Lin; Hsu, Chia Jung; Li, 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. PMC 1166350. PMID 15984912.
  7. 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
  8. Min-Sheng Peng, Huy Ho Quang, Khoa Pham Dang et al., "Tracing the Austronesian Footprint in Mainland Southeast Asia: A Perspective from Mitochondrial DNA", Mol. Biol. Evol. 27(10):2417–2430. (2010) doi:10.1093/molbev/msq131
  9. Catherine Hill, Pedro Soares, Maru Mormina et al., "Phylogeography and Ethnogenesis of Aboriginal Southeast Asians", Mol. Biol. Evol. 23(12):2480–2491. (2006) doi:10.1093/molbev/msl124
  10. Miguel G. Vilar, Chim W. Chan, Dana R. Santos et al., "The Origins and Genetic Distinctiveness of the Chamorros of the Marianas Islands: An mtDNA Perspective", American Journal of Human Biology, Volume 25, Issue 1, pages 116–122, January/February 2013. DOI: 10.1002/ajhb.22349
  11. Min-Sheng Peng, Jun-Dong He, Hai-Xin Liu, and Ya-Ping Zhang, "Tracing the legacy of the early Hainan Islanders - a perspective from mitochondrial DNA", BMC Evolutionary Biology 2011, 11:46. http://www.biomedcentral.com/1471-2148/11/46
  • General
  • 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. PMC 1204787. PMID 1346259.
    • Herrnstadt, C.; Elson, J.L.; Fahy, E.; Preston, G.; Turnbull, D.M.; Anderson, C.; Ghosh, S.S.; Olefsky, J.M.; 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. PMC 447592. 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.
    • 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. PMC 1203963. PMID 1968873.
    • Trejaut, Jean A; Kivisild, Toomas; Jun Hun, Loo; Chien Liang, Lee; Chun Lin, He; Chia Jung, Hsu; Zheng Yuan, Li; Lin, Marie (2005). "Traces of Archaic Mitochondrial Lineages Persist in Austronesian-Speaking Formosan Populations". PLoS Biology. 3 (8): 8. doi:10.1371/journal.pbio.0030247. PMC 1166350. PMID 15984912.
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