Haplogroup E (mtDNA)

Haplogroup E
Possible time of origin	16,400 to 39,000 YBP [1]
Possible place of origin	Indonesia[1] or Taiwan[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

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

• Genealogical DNA test
• Genetic Genealogy
• Human mitochondrial genetics
• Population Genetics
• Human mitochondrial DNA haplogroups

Evolutionary 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. Soares et al. (2008), Climate Change and Postglacial Human Dispersals in Southeast Asia, Molecular Biology and Evolution, June 2008; 25: 1213
2. Trejaut, J. et al 2005. Traces of Archaic Mitochondrial Lineages Persist in Austronesian-Speaking Formosan Populations. PLoS Biol. 2005 August; 3(8): e247.
3. 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

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. 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.