Haplogroup E-M96

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Haplogroup E
Possible time of origin 50,000 - 55,000 years BP[1]
Possible place of origin East Africa,[2] or possibly Asia[3]
Ancestor DE
Descendants E-P147, E-M75
Defining mutations L339, L614, M40/SRY4064/SRY8299, M96, P29, P150, P152, P154, P155, P156, P162, P168, P169, P170, P171, P172, P173, P174, P175, P176

In human genetics, Haplogroup E-M96 is a human Y-chromosome DNA haplogroup. Haplogroup E-M96 is one of the two main branches of the older Haplogroup DE, the other main branch being haplogroup D. The E-M96 clade is divided into two subclades: The more common E-P147 and the less common E-M75.

Origins[edit]

Underhill (2001) proposed that haplogroup E may have arisen in East Africa.[4] Some authors as Chandrasekar (2007), continue to accept the earlier position of Hammer (1997) that Haplogroup E may have originated in Asia,[5] given that:

  • E is a clade of Haplogroup DE, with the other major clade, haplogroup D, being East Asian.
  • DE is a clade within M168 with the other two major clades, C and F, considered to have a Eurasian origin.

However, several discoveries made since the Hammer articles are thought to make an Asian origin less likely:

  1. Underhill and Kivisild (2007) demonstrated that C and F have a common ancestor meaning that DE has only one sibling which is non-African.[6]
  2. DE* is found in both Asia and Africa, meaning that not only one, but several siblings of D are found in Asia and Africa.
  3. Karafet (2008), in which Hammer is a co-author, significantly rearranged time estimates leading to "new interpretations on the geographical origin of ancient sub-clades".[1] Amongst other things this article proposed a much older age for haplogroup E-M96 than had been considered previously, giving it a similar age to Haplogroup D, and DE itself, meaning that there is no longer any strong reason to see it as an offshoot of DE which must have happened long after DE came into existence and had entered Asia.[1]

Distribution[edit]

Haplogroup E (Y-DNA)

Most members of haplogroup E-M96 belong to one of its identified subclades, and the E-M96 (xE-P147,xE-M75) lineage is rare. E1a and E-M75 are found almost exclusively in Africa. By looking at the major subclade frequencies, five broad regions of Africa can be defined: East, Central, North, Southern and West. The division can be distinguished by the prevalence of E-V38 in East, Central, Southern and West Africa, E-M78 in East Africa and E-M81 in North Africa. E-V38 is the most prevalent subclade of E in Africa. It is observed at high frequencies in all African regions except the northernmost and easternmost portions of the continent. E-M243 (especially its subclades M78 and M81) is found at high frequencies in North East Africa and North Africa and is the only subclade that is found in Europe and Asia at significant frequencies. E-M243 is common among Afro-Asiatic speakers in the Near East and North Africa as well as among some Nilo-Saharan and Niger–Congo speakers in North East Africa and Sudan. E-M243 is far less common in West, Central, and Southern Africa, though it has been observed among some Khoisan speakers[7] and among Niger–Congo speakers in Senegambia,[8] Guinea-Bissau,[9] Burkina Faso,[10] Ghana,[8] Gabon,[11] the Democratic Republic of the Congo,[8] Rwanda,[12] Namibia,[8] and South Africa.[8]

Subclades[edit]

E-M96*[edit]

The most basal lineage, paragroup E-M96*, has been reported in 2 Amharas from Ethiopia,[13] a single Bantu-speaking male from South Africa,[1] amongst pygmies and Bantus from the Cameroon/Gabon region,[11] in two individuals from Saudi Arabia[14] and in some Syrians and Lebanese individuals according to Zalloua et al. (2008), but possibly only the Arabian, Lebanese and Syrian individuals are real E-M96*, because the discovery of the V38 SNP by Trombetta et al. (2011) has, in theory, resolved the previously reported cases of E-M96* in Africa (most studies which reported E-M96* in Africa only tested for the M2 SNP but not for the recently-discovered upstream V38 SNP) and, given the paucity of the downstream M2 sub-clade in Eurasia, it is highly unlikely that the reported E-M96* is E-V38*.

E-P147[edit]

Main article: Haplogroup E-P147

The E-P147 branch of E-M96 also contains the dominant E-P2 variant, which is not only the most frequent variant of E-M96, but also the most dominant YDNA lineage in Africa.

E-M75[edit]

Main article: Haplogroup E-M75

E-M75 is present throughout Sub-Saharan Africa, in East Africa, Southern Africa, Central Africa, and West Africa. The highest concentration of haplogroup E-M75 has been found among South African and Kenyan Bantus, with moderate frequencies of this haplogroup being observed in samples from Burkina Faso, Cameroon, Gabon, Hutu and Tutsi from Rwanda, Malagasy from Madagascar, Fon from Benin, Iraqw from Tanzania,[15] South African Khoisan, Sudan, and Senegal, as well as small frequencies in samples obtained from Qatar, Oman, Ethiopian Oromo, and Somali immigrants to Denmark.

Phylogenetics[edit]

Phylogenetic history[edit]

Prior to 2002, there were in academic literature at least seven naming systems for the Y-Chromosome Phylogenetic tree. This led to considerable confusion. In 2002, the major research groups came together and formed the Y-Chromosome Consortium (YCC). They published a joint paper that created a single new tree that all agreed to use. Later, a group of citizen scientists with an interest in population genetics and genetic genealogy formed a working group to create an amateur tree aiming at being above all timely. The table below brings together all of these works at the point of the landmark 2002 YCC Tree. This allows a researcher reviewing older published literature to quickly move between nomenclatures.

YCC 2002/2008 (Shorthand) (α) (β) (γ) (δ) (ε) (ζ) (η) YCC 2002 (Longhand) YCC 2005 (Longhand) YCC 2008 (Longhand) YCC 2010r (Longhand) ISOGG 2006 ISOGG 2007 ISOGG 2008 ISOGG 2009 ISOGG 2010 ISOGG 2011 ISOGG 2012
E-P29 21 III 3A 13 Eu3 H2 B E* E E E E E E E E E E
E-M33 21 III 3A 13 Eu3 H2 B E1* E1 E1a E1a E1 E1 E1a E1a E1a E1a E1a
E-M44 21 III 3A 13 Eu3 H2 B E1a E1a E1a1 E1a1 E1a E1a E1a1 E1a1 E1a1 E1a1 E1a1
E-M75 21 III 3A 13 Eu3 H2 B E2a E2 E2 E2 E2 E2 E2 E2 E2 E2 E2
E-M54 21 III 3A 13 Eu3 H2 B E2b E2b E2b E2b1 - - - - - - -
E-P2 25 III 4 14 Eu3 H2 B E3* E3 E1b E1b1 E3 E3 E1b1 E1b1 E1b1 E1b1 E1b1
E-M2 8 III 5 15 Eu2 H2 B E3a* E3a E1b1 E1b1a E3a E3a E1b1a E1b1a E1b1a E1b1a1 E1b1a1
E-M58 8 III 5 15 Eu2 H2 B E3a1 E3a1 E1b1a1 E1b1a1 E3a1 E3a1 E1b1a1 E1b1a1 E1b1a1 E1b1a1a1a E1b1a1a1a
E-M116.2 8 III 5 15 Eu2 H2 B E3a2 E3a2 E1b1a2 E1b1a2 E3a2 E3a2 E1b1a2 E1b1a2 E1ba12 removed removed
E-M149 8 III 5 15 Eu2 H2 B E3a3 E3a3 E1b1a3 E1b1a3 E3a3 E3a3 E1b1a3 E1b1a3 E1b1a3 E1b1a1a1c E1b1a1a1c
E-M154 8 III 5 15 Eu2 H2 B E3a4 E3a4 E1b1a4 E1b1a4 E3a4 E3a4 E1b1a4 E1b1a4 E1b1a4 E1b1a1a1g1c E1b1a1a1g1c
E-M155 8 III 5 15 Eu2 H2 B E3a5 E3a5 E1b1a5 E1b1a5 E3a5 E3a5 E1b1a5 E1b1a5 E1b1a5 E1b1a1a1d E1b1a1a1d
E-M10 8 III 5 15 Eu2 H2 B E3a6 E3a6 E1b1a6 E1b1a6 E3a6 E3a6 E1b1a6 E1b1a6 E1b1a6 E1b1a1a1e E1b1a1a1e
E-M35 25 III 4 14 Eu4 H2 B E3b* E3b E1b1b1 E1b1b1 E3b1 E3b1 E1b1b1 E1b1b1 E1b1b1 removed removed
E-M78 25 III 4 14 Eu4 H2 B E3b1* E3b1 E1b1b1a E1b1b1a1 E3b1a E3b1a E1b1b1a E1b1b1a E1b1b1a E1b1b1a1 E1b1b1a1
E-M148 25 III 4 14 Eu4 H2 B E3b1a E3b1a E1b1b1a3a E1b1b1a1c1 E3b1a3a E3b1a3a E1b1b1a3a E1b1b1a3a E1b1b1a3a E1b1b1a1c1 E1b1b1a1c1
E-M81 25 III 4 14 Eu4 H2 B E3b2* E3b2 E1b1b1b E1b1b1b1 E3b1b E3b1b E1b1b1b E1b1b1b E1b1b1b E1b1b1b1 E1b1b1b1a
E-M107 25 III 4 14 Eu4 H2 B E3b2a E3b2a E1b1b1b1 E1b1b1b1a E3b1b1 E3b1b1 E1b1b1b1 E1b1b1b1 E1b1b1b1 E1b1b1b1a E1b1b1b1a1
E-M165 25 III 4 14 Eu4 H2 B E3b2b E3b2b E1b1b1b2 E1b1b1b1b1 E3b1b2 E3b1b2 E1b1b1b2a E1b1b1b2a E1b1b1b2a E1b1b1b2a E1b1b1b1a2a
E-M123 25 III 4 14 Eu4 H2 B E3b3* E3b3 E1b1b1c E1b1b1c E3b1c E3b1c E1b1b1c E1b1b1c E1b1b1c E1b1b1c E1b1b1b2a
E-M34 25 III 4 14 Eu4 H2 B E3b3a* E3b3a E1b1b1c1 E1b1b1c1 E3b1c1 E3b1c1 E1b1b1c1 E1b1b1c1 E1b1b1c1 E1b1b1c1 E1b1b1b2a1
E-M136 25 III 4 14 Eu4 H2 B E3ba1 E3b3a1 E1b1b1c1a E1b1b1c1a1 E3b1c1a E3b1c1a E1b1b1c1a1 E1b1b1c1a1 E1b1b1c1a1 E1b1b1c1a1 E1b1b1b2a1a1

Research publications[edit]

The following research teams per their publications were represented in the creation of the YCC tree.

Phylogenetic trees[edit]

This phylogenetic tree of haplogroup subclades is based on the Y-Chromosome Consortium (YCC) Tree,[16] the ISOGG Y-DNA Haplogroup Tree,[17] and subsequent published research.

  • E-M96 (L339, L614, M40/SRY4064/SRY8299, M96, P29, P150, P152, P154, P155, P156, P162, P168, P169, P170, P171, P172, P173, P174, P175, P176)
    • E-P147 (P147)
      • E-M33 (M33, M132)
        • E-M44 (M44)
        • E-P110 (P110)
        • E-L94 (L94)
        • E-L133 (L133/PAGES00074)
      • E-P177 (P177)
        • E-P2 (DYS391p, P2/PN2, P179, P180, P181)
        • E-P75 (P75)
    • E-M75 (M75, P68)
      • E-M41 (M41)
      • E-M54 (M54, M90, M98)
        • E-M85 (M85)

Notes[edit]

  1. ^ a b c d Karafet, T. M.; Mendez, F. L.; Meilerman, M. B.; Underhill, P. A.; Zegura, S. L.; Hammer, M. F. (2008). "New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree". Genome Research 18 (5): 830–8. doi:10.1101/gr.7172008. PMC 2336805. PMID 18385274. 
  2. ^ Semino, Ornella; Magri, Chiara; Benuzzi, Giorgia; Lin, Alice A.; Al-Zahery, Nadia; Battaglia, Vincenza; MacCioni, Liliana; Triantaphyllidis, Costas et al. (2004). "Origin, Diffusion, and Differentiation of Y-Chromosome Haplogroups E and J: Inferences on the Neolithization of Europe and Later Migratory Events in the Mediterranean Area". The American Journal of Human Genetics 74 (5): 1023–34. doi:10.1086/386295. PMC 1181965. PMID 15069642. 
  3. ^ Chiaroni, J.; Underhill, P. A.; Cavalli-Sforza, L. L. (2009). "Y chromosome diversity, human expansion, drift, and cultural evolution". Proceedings of the National Academy of Sciences 106 (48): 20174–9. doi:10.1073/pnas.0910803106. PMC 2787129. PMID 19920170. 
  4. ^ Underhill, P. A.; Passarino, G.; Lin, A. A.; Shen, P.; Mirazon Lahr, M.; Foley, R. A.; Oefner, P. J.; Cavalli-Sforza, L. L. (2001). "The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations". Annals of Human Genetics 65 (Pt 1): 43–62. doi:10.1046/j.1469-1809.2001.6510043.x. PMID 11415522. 
  5. ^ Chandrasekar et al.; Saheb, S. Y.; Gangopadyaya, P.; Gangopadyaya, S.; Mukherjee, A.; Basu, D.; Lakshmi, G. R.; Sahani, A. K.; Das, B.; Battacharya, S.; Kumar, S.; Xaviour, D.; Sun, D.; Rao, V. R. (Sep–Oct 2007). "YAP insertion signature in South Asia". Annals of Human Biology 34 (5): 582–6. doi:10.1080/03014460701556262. PMID 17786594. 
  6. ^ Underhill, Peter A.; Kivisild, Toomas (2007). "Use of Y Chromosome and Mitochondrial DNA Population Structure in Tracing Human Migrations". Annual Review of Genetics 41: 539–64. doi:10.1146/annurev.genet.41.110306.130407. PMID 18076332. 
  7. ^ Cruciani, Fulvio; La Fratta, Roberta; Santolamazza, Piero; Sellitto, Daniele; Pascone, Roberto; Moral, Pedro; Watson, Elizabeth; Guida, Valentina et al. (2004). "Phylogeographic Analysis of Haplogroup E3b (E-M215) Y Chromosomes Reveals Multiple Migratory Events Within and Out of Africa". The American Journal of Human Genetics 74 (5): 1014–22. doi:10.1086/386294. PMC 1181964. PMID 15042509. 
  8. ^ a b c d e Wood, Elizabeth T; Stover, Daryn A; Ehret, Christopher; Destro-Bisol, Giovanni; Spedini, Gabriella; McLeod, Howard; Louie, Leslie; Bamshad, Mike et al. (2005). "Contrasting patterns of Y chromosome and mtDNA variation in Africa: Evidence for sex-biased demographic processes". European Journal of Human Genetics 13 (7): 867–76. doi:10.1038/sj.ejhg.5201408. PMID 15856073.  (cf. Appendix A: Y Chromosome Haplotype Frequencies)
  9. ^ Rosa, Alexandra; Ornelas, Carolina; Jobling, Mark A; Brehm, António; Villems, Richard (2007). "Y-chromosomal diversity in the population of Guinea-Bissau: A multiethnic perspective". BMC Evolutionary Biology 7: 124. doi:10.1186/1471-2148-7-124. PMC 1976131. PMID 17662131. 
  10. ^ Cruciani, Fulvio; Santolamazza, Piero; Shen, Peidong; MacAulay, Vincent; Moral, Pedro; Olckers, Antonel; Modiano, David; Holmes, Susan et al. (2002). "A Back Migration from Asia to Sub-Saharan Africa is Supported by High-Resolution Analysis of Human Y-Chromosome Haplotypes". The American Journal of Human Genetics 70 (5): 1197–214. doi:10.1086/340257. PMC 447595. PMID 11910562. 
  11. ^ a b Berniell-Lee, G.; Calafell, F.; Bosch, E.; Heyer, E.; Sica, L.; Mouguiama-Daouda, P.; Van Der Veen, L.; Hombert, J.-M. et al. (2009). "Genetic and Demographic Implications of the Bantu Expansion: Insights from Human Paternal Lineages". Molecular Biology and Evolution 26 (7): 1581–9. doi:10.1093/molbev/msp069. PMID 19369595. 
  12. ^ Luis, J; Rowold, D; Regueiro, M; Caeiro, B; Cinnioglu, C; Roseman, C; Underhill, P; Cavallisforza, L; Herrera, R (2004). "The Levant versus the Horn of Africa: Evidence for Bidirectional Corridors of Human Migrations". The American Journal of Human Genetics 74 (3): 532–44. doi:10.1086/382286. PMC 1182266. PMID 14973781. 
  13. ^ Abu-Amero, Khaled K; Hellani, Ali; González, Ana M; Larruga, Jose M; Cabrera, Vicente M; Underhill, Peter A (2011). "Variation in Y chromosome, mitochondrial DNA and labels of identity on Ethiopia". UCL Discovery 10: 59. doi:10.1186/1471-2156-10-59. PMC 2759955. PMID 19772609. 
  14. ^ Abu-Amero, Khaled K; Hellani, Ali; González, Ana M; Larruga, Jose M; Cabrera, Vicente M; Underhill, Peter A (2009). "Saudi Arabian Y-Chromosome diversity and its relationship with nearby regions". BMC Genetics 10: 59. doi:10.1186/1471-2156-10-59. PMC 2759955. PMID 19772609. 
  15. ^ Called "Wairak" and misidentified as Bantu in Luis (2004).
  16. ^ Krahn, Thomas. "YCC Tree". Houston, Texas: FTDNA. Retrieved 16 May 2011. 
  17. ^ International Society of Genetic Genealogy. "Y-DNA Haplogroup Tree". Retrieved 2012. 

Further reading[edit]

See also[edit]

Genetics[edit]

Y-DNA E subclades[edit]

Y-DNA backbone tree[edit]

Evolutionary tree of human Y-chromosome DNA (Y-DNA) haplogroups
MRC Y-ancestor
A00 A0'1'2'3'4
A0 A1'2'3'4
A1 A2'3'4
A2'3 A4=BCDEF
A2 A3 B CDEF
DE CF
D E C F
GHIJKLT
G HIJKLT
H IJKLT
IJ KLT (K)
I J LT(K1) K (K2)
L T MPS (K2b) X (K2a)
MS P NO
M S QR N O
Q R
  1. ^ van Oven M, Van Geystelen A, Kayser M, Decorte R, Larmuseau HD (2014). "Seeing the wood for the trees: a minimal reference phylogeny for the human Y chromosome". Human Mutation 35 (2): 187–91. doi:10.1002/humu.22468. PMID 24166809. 

External links[edit]

Phylogenetic tree and distribution maps of Y-DNA haplogroup E[edit]

Projects[edit]