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Haplogroup E (mtDNA)

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Haplogroup E
Possible time of origin16,400 to 39,000 YBP [1]
Possible place of originIndonesia[1] or Taiwan[2]
AncestorM9
DescendantsE1, E2
Defining mutations3027, 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

It is believed to have arisen in Northeast Sundaland or around Sulawesi and Sulu Seas.[1] On the other hand, it might be related with the Austronesian languages expansion from Taiwan to Insulinde, indicating a common origin of the populations of insular Southeast Asia and suggesting a prevalence in the Taiwanese aboriginal gene pool (mainly E with B4, B5a, F1a, F3b and M7) of its initial late Pleistocene settlers.[2]

Haplogroup E is a subclade of Haplogroup M9, which is the most frequently occurring mtDNA haplogroup among modern Tibetans of Xizang.[4]

Distribution

Haplogroup E has a Southeast Asian distribution. 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.[5][6][7][8][9][10]

Table of Frequencies of MtDNA Haplogroup E

Population Frequency Count Source Subtypes
Chamorro (85 Guam, 14 Saipan, & 6 Rota) 0.924 105 Vilar 2013 E2a=68, E1a2=29
Indonesian (Sulawesi, incl. 89 Manado, 64 Toraja, 46 Ujung Padang, & 38 Palu) 0.266 237 Hill 2007 E1a=42, E1b=9, E2=7, E1(xE1a, E1b)=5
Filipino (Mindanao) 0.214 70 Tabbada 2010 E1a1a=10, E2(xE2b)=4, E1b=1
Filipino (Visayas) 0.214 112 Tabbada 2010 E1a1a=18, E2(xE2b)=5, E1(xE1a1a, E1a2, E1b)=1
Indonesian (Ambon) 0.163 43 Hill 2007 E1(xE1a, E1b)=3, E1a=2, E2=2
Indonesian (Waingapu, Sumba) 0.160 50 Hill 2007 E1b=6, E1a=1, E2=1
Indonesian (Bangka) 0.147 34 Hill 2006 E=5
Borneo (89 Banjarmasin & 68 Kota Kinabalu) 0.146 157 Hill 2007 E1a=14, E2=5, E1b=3, E1(xE1a, E1b)=1
Filipino 0.125 64 Tabbada 2010 E1a1a=5, E2(xE2b)=2, E1a2=1
Filipino (Luzon) 0.124 177 Tabbada 2010 E1a1a=14, E1b=5, E2(xE2b)=2, E2b=1
Taiwan (aborigine) 0.120 640 Peng 2011 E=77
Indonesian (Alor) 0.111 45 Hill 2007 E1a=3, E1b=2
Indonesian (Mataram, Lombok) 0.091 44 Hill 2007 E1b=3, E1a=1
Indonesian (Padang, Sumatra) 0.083 24 Hill 2006 E=2
Indonesian (Medan, Sumatra) 0.071 42 Hill 2006 E=3
Indonesian (Pekanbaru, Medan, Bangka, Palembang, & Padang) 0.067 180 Hill 2007 E1a=6, E1b=4, E1(xE1a, E1b)=1, E2=1
Indonesian (Bali) 0.061 82 Hill 2007 E1a=3, E1b=1, E1(xE1a, E1b)=1
Filipino (Palawan) 0.050 20 Scholes 2011 E1a=1
Indonesian (Palembang, Sumatra) 0.036 28 Hill 2006 E=1
Tujia (Yanhe County, Guizhou) 0.034 29 Li 2007 E=1
Gelao (Daozhen County, Guizhou) 0.032 31 Li 2007 E=1
Indonesian (Java, incl. 36 from Tengger) 0.022 46 Hill 2007 E1b=1
Indonesian (Pekanbaru, Sumatra) 0.019 52 Hill 2006 E=1
Cham (Bình Thuận, Vietnam) 0.012 168 Peng 2010 E1a1a=1, E2a=1
Carolinian (Saipan) 0.000 17 Vilar 2013 -
Yi (Hezhang County, Guizhou) 0.000 20 Li 2007 -
Dong (Tianzhu County, Guizhou) 0.000 28 Li 2007 -
Batek (Malaysia) 0.000 29 Hill 2006 -
Cun (Hainan) 0.000 30 Peng 2011 -
Batak (Palawan) 0.000 31 Scholes 2011 -
Lingao (Hainan) 0.000 31 Peng 2011 -
Mendriq (Malaysia) 0.000 32 Hill 2006 -
Temuan (Malaysia) 0.000 33 Hill 2006 -
Danga (Hainan) 0.000 40 Peng 2011 -
Jahai (Malaysia) 0.000 51 Hill 2006 -
Senoi (Malaysia) 0.000 52 Hill 2006 -
Semelai (Malaysia) 0.000 61 Hill 2006 -
Gelao (Daozhen County, Guizhou) 0.000 102 Liu 2011 -
Li (Hainan) 0.000 346 Peng 2011 -

Subclades

Tree

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
        • 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. ^ a b c Soares et al. (2008), Climate Change and Postglacial Human Dispersals in Southeast Asia, Molecular Biology and Evolution, June 2008; 25: 1213
  2. ^ a b Trejaut, J. et al 2005. Traces of Archaic Mitochondrial Lineages Persist in Austronesian-Speaking Formosan Populations. PLoS Biol. 2005 August; 3(8): e247.
  3. ^ a b 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. ^ Zhendong Qin, Yajun Yang, Longli Kang et al., "A Mitochondrial Revelation of Early Human Migrations to the Tibetan Plateau Before and After the Last Glacial Maximum", American Journal of Physical Anthropology 143:555–569 (2010)
  5. ^ 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
  6. ^ 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
  7. ^ 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
  8. ^ Catherine Hill, Pedro Soares, Maru Mormina et al., "A Mitochondrial Stratigraphy for Island Southeast Asia", Am. J. Hum. Genet. 2007;80:29–43.
  9. ^ 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
  10. ^ 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