Haplogroup E (mtDNA)

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Haplogroup E
Possible time of origin35,000 [1] to 8,000 [2] YBP
Possible place of origineast Sundaland [1] or Fujian coast [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.

Contents

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]

Frequencies of MtDNA Haplogroup E
PopulationFrequencyCountSourceSubtypes
Chamorro (85 Guam, 14 Saipan, & 6 Rota)0.924105 Vilar et al 2013 E2a=68, E1a2=29
East Indonesian (Sulawesi, incl. 89 Manado, 64 Toraja, 46 Ujung Padang, & 38 Palu)0.266237 Hill et al 2007 E1a=42, E1b=9, E2=7, E1(xE1a, E1b)=5
Filipino (Mindanao)0.21470 Tabbada et al 2010 , p. 24E1a1a=10, E2(xE2b)=4, E1b=1
Filipino (Visayas)0.214112 Tabbada et al 2010 , p. 24E1a1a=18, E2(xE2b)=5, E1(xE1a1a, E1a2, E1b)=1
East Indonesian (Ambon)0.16343 Hill et al 2007 E1(xE1a, E1b)=3, E1a=2, E2=2
East Indonesian (Waingapu, Sumba)0.16050 Hill et al 2007 E1b=6, E1a=1, E2=1
Indonesian (Bangka)0.14734 Hill et al 2006 E=5
Borneo (89 Banjarmasin & 68 Kota Kinabalu)0.146157 Hill et al 2007 E1a=14, E2=5, E1b=3, E1(xE1a, E1b)=1
Filipino 0.12564 Tabbada et al 2010 , p. 24E1a1a=5, E2(xE2b)=2, E1a2=1
Filipino (Luzon)0.124177 Tabbada et al 2010 , p. 24E1a1a=14, E1b=5, E2(xE2b)=2, E2b=1
Taiwan (aborigine) 0.120640 Peng et al 2011 E=77
East Indonesian (Alor)0.11145 Hill et al 2007 E1a=3, E1b=2
East Indonesian (Mataram, Lombok)0.09144 Hill et al 2007 E1b=3, E1a=1
Indonesian (Padang, Sumatra)0.08324 Hill et al 2006 E=2
Indonesian (Medan, Sumatra)0.07142 Hill et al 2006 E=3
Indonesian (Pekanbaru, Medan, Bangka, Palembang, & Padang)0.067180 Hill et al 2007 E1a=6, E1b=4, E1(xE1a, E1b)=1, E2=1
Indonesian (Bali)0.06182 Hill et al 2007 E1a=3, E1b=1, E1(xE1a, E1b)=1
Filipino (Palawan)0.05020 Scholes et al 2011 E1a=1
Indonesian (Palembang, Sumatra)0.03628 Hill et al 2006 E=1
Tujia (Yanhe County, Guizhou)0.03429 Li et al 2007 E=1
Gelao (Daozhen County, Guizhou)0.03231 Li et al 2007 E=1
Indonesian (Java, incl. 36 from Tengger)0.02246 Hill et al 2007 E1b=1
Indonesian (Pekanbaru, Sumatra)0.01952 Hill et al 2006 E=1
Cham (Bình Thuận, Vietnam)0.012168 Peng et al 2010 E1a1a=1, E2a=1
Carolinian (Saipan)0.00017 Vilar et al 2013 -
Yi (Hezhang County, Guizhou)0.00020 Li et al 2007 -
Dong (Tianzhu County, Guizhou)0.00028 Li et al 2007 -
Batek (Malaysia)0.00029 Hill et al 2006 -
Cun (Hainan)0.00030 Peng et al 2011 -
Batak (Palawan)0.00031 Scholes et al 2011 -
Lingao (Hainan)0.00031 Peng et al 2011 -
Mendriq (Malaysia)0.00032 Hill et al 2006 -
Temuan (Malaysia)0.00033 Hill et al 2006 -
Danga (Hainan)0.00040 Peng et al 2011 -
Jahai (Malaysia)0.00051 Hill et al 2006 -
Senoi (Malaysia)0.00052 Hill et al 2006 -
Semelai (Malaysia)0.00061 Hill et al 2006 -
Gelao (Daozhen County, Guizhou)0.000102 Liu et al 2011 -
Li (Hainan)0.000346 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.

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

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References

  1. 1 2 3 Soares et al 2008, p. 1215.
  2. 1 2 3 Ko et al 2014.
  3. 1 2 van Oven & Kayser 2008.
  4. 1 2 3 4 Hill et al 2007.
  5. Soares et al 2016.
  6. Trejaut et al 2005.
  7. Tabbada et al 2010, pp. 24, 28.
  8. Peng et al 2010.
  9. Hill et al 2006.
  10. Vilar et al 2013.
  11. Peng et al 2011.
  12. 1 2 Soares et al 2008, p. 1213.
  13. Tabbada et al 2010, p. 29.