Haplogroup E (Y-DNA)

From Wikipedia, the free encyclopedia

Jump to: navigation, search
Haplogroup E
Possible time of origin 50,000 - 55,000 years BP[1]
Possible place of origin East Africa[2][3] [3]
Ancestor DE
Descendants E1, E2
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 is one of the two main branches of the older Haplogroup DE, the other main branch being haplogroup D. The E clade is divided into two subclades: E1 (E-P147) and E2 (E-M75).



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


Haplogroup E (Y-DNA).

Most members of haplogroup E belong to one of its identified subclades, and the E (xE1,xE2) lineage is rare. E1a and E2 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 E1b1a (V38) in East, Central, Southern and West Africa, E1b1b1a (M78) in East Africa and E1b1b1b (M81) in North Africa. E1b1a 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. E1b1b (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. E1b1b 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. E1b1b is far less common in West, Central, and Southern Africa, though it has been observed among some Khoisan speakers[6] and among Niger–Congo speakers in Senegambia,[7] Guinea-Bissau,[8] Burkina Faso,[9] Ghana,[7] Gabon,[10] the Democratic Republic of the Congo,[7] Rwanda,[11] Namibia,[7] and South Africa.[7]



The most basal lineages, paragroup E*, have been found in a single Bantu-speaking male from South Africa,[1] amongst pygmies and Bantus from the Cameroon/Gabon region,[10] and in two individuals from Saudi Arabia.[12]



While there have been no attested exemplars of E1*, its sub-clade, E1a (M33), is found most often in West Africa, and today it is especially common in the region of Mali. One study has found haplogroup E1a-M33 Y-chromosomes in as much as 34% (15/44) of a sample of Malian men. Haplogroup E1a also has been detected among samples obtained from Guinea-Bissau,[8] Moroccan Berbers, Sahrawis, Burkina Faso, northern Cameroon, Senegal, Sudan, Egypt and Portugal (5/553 or approximately 0.9%).[2][11][13]

Haplogroup E1a has been detected in North Africa and Europe independently of the ubiquitous E1b1a. Because E1b1a is known to have expanded recently, this leaves open the possibility of an ancient expansion from West Africa into North Africa and Europe of E1a lineages.[13]


So far there are no attested examples of E1b*. The clade is dominated by its subclade E1b1 (E-P2 or E-PN2), which is by far the most frequent clade within haplogroup E. Another subclade of E1b, E1b2 (P75), is much more unusual.


E1b1, also known as E-P2 or E-PN2, includes the majority of all E lineages existing today. There are no known basal E1b1*.

Today there are two main surviving branches of this haplogroup, E1b1b (E-M215) and E1b1a (E-V38).


E1b1a is the primary subclade of E in West Africans and many populations of Central, Eastern, and Southern Africa. It is observed in lower frequencies in North Africa,the Iberian Peninsula and parts of West Asia. E1b1a has several subclades but many members of E1b1a subclades are either E1b1a1a1f (E-L485) or E1b1a1a1g (E-U175).


E1b1b is a primary subclade of haplogroup E that is especially common amongst Oromos and Somalis in the Horn of Africa, as well as Berbers, Egyptians and Tuareg in North Africa. It is also frequently observed in West Asia, from where it spread into the Balkans and the rest of Europe. E1b1b has at least four common subclades: E1b1b1a (E-V68), E1b1b1b (E-V257), E1b1b1c (E-M123), and E1b1b1e (E-M293), the last of which spreads from Ethiopia to South Africa.


E2 (M75) is present throughout Sub-Saharan Africa, in East Africa, Southern Africa, Central Africa, and West Africa. The highest concentration of haplogroup E2 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,[14] South African Khoisan, Sudan, and Senegal, as well as small frequencies in samples obtained from Qatar, Oman, Ethiopian Oromo, and Somali immigrants to Denmark.


From 2002 to 2008, haplogroups E1b1a and E1b1b were known as haplogroups E3a and E3b.


This phylogenetic tree of haplogroup subclades is based on the YCC 2008 tree[1] and subsequent published research.

    • E (L339, L614, M40/SRY4064/SRY8299, M96, P29, P150, P152, P154, P155, P156, P162, P168, P169, P170, P171, P172, P173, P174, P175, P176)
      • E1 (P147)
        • E1a (M33, M132)
          • E1a1 (M44)
          • E1a2 (P110)
          • E1a3 (L94)
          • E1a4 (L133/PAGES00074)
        • E1b (P177)
          • E1b1 (DYS391p, P2/PN2, P179, P180, P181)
            • E1b1a (L222.1, V38, V100)
              • E1b1a1 (DYS271/M2/SY81, V95, V43, M180/P88, P1/PN1, P46, P182, P189, P211, P293, L88.3)
                • E1b1a1a (M58, PAGES00027)
                • E1b1a1b (M116.2)
                • E1b1a1c (M149)
                • E1b1a1d (M155)
                • E1b1a1e (M10, M66, M156, M195)
                • E1b1a1f (M191/P86, U186, P253/U247)
                  • E1b1a1f1 (P252/U174)
                    • E1b1a1f1a (P9.2)
                    • E1b1a1f1b (P115)
                    • E1b1a1f1c (P116)
                      • E1b1a1f1c1 (P113)
                    • (L372)
                • E1b1a1g (U175)
                  • E1b1a1g1 (U209, P277, P278)
                    • E1b1a1g1a (U290)
                      • E1b1a1g1a1 (U181)
                        • E1b1a1g1a1a (L97)
                    • E1b1a1g1b (P59)
                    • E1b1a1g1c (M154)
                    • E1b1a1g1d (V39)
                • E1b1a1h (P268, P269)
              • E1b1a2 (M329)
            • E1b1b (M215/PAGES00040)
              • E1b1b1 (M35.1, M243, L336)
                • E1b1b1a (V68)
                  • E1b1b1a1 (L18, M78)
                    • E1b1b1a1a (V12)
                      • E1b1b1a1a1 (M224)
                      • E1b1b1a1a2 (V32)
                    • E1b1b1a1b (V13, V36, L142.1)
                      • E1b1b1a1b1 (V27)
                      • E1b1b1a1b2 (P65)
                      • E1b1b1a1b3 (L17)
                      • E1b1b1a1b4 (L143)
                        • (L117/PAGES00015)
                      • E1b1b1a1b5 (M35.2)
                        • (L99)
                      • E1b1b1a1b6 (L241)
                      • E1b1b1a1b7 (L250, L251, L252)
                      • E1b1b1a1b8 (L540)
                    • E1b1b1a1c (V22)
                      • E1b1b1a1c1 (M148)
                      • E1b1b1a1c2 (V19)
                    • E1b1b1a1d (V65, L66, L67)
                    • E1b1b1a1e (M521)
                • E1b1b1b (L19/V257)
                  • E1b1b1b1 (M81)
                    • E1b1b1b1a (M107)
                    • E1b1b1b1b (M183/PAGES00033, M310)
                      • E1b1b1b1b1 (M165)
                      • E1b1b1b1b2 (L335, L337, L351)
                • E1b1b1c (M123)
                  • E1b1b1c1 (M34)
                    • E1b1b1c1a (M84, L29/PAGES00047)
                      • E1b1b1c1a1 (M136)
                    • E1b1b1c1b (M290)
                    • E1b1b1c1c (V23)
                • E1b1b1d (V6)
                • E1b1b1e (M293)
                  • E1b1b1e1 (P72)
                • E1b1b1f (V42)
                • E1b1b1g (V92)
              • E1b1b2 (M281, V16)
          • E1b2 (P75)
      • E2 (M75, P68)
        • E2a (M41)
        • E2b (M54, M90, M98)
          • E2b1 (M85)
            • E2b1a (M200)
              • E2b1a1 (P45)
              • E2b1a2 (P258)


  1. ^ a b c d e 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. //www.ncbi.nlm.nih.gov/pmc/articles/PMC2336805/.
  2. ^ a b 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. //www.ncbi.nlm.nih.gov/pmc/articles/PMC1181965/.
  3. ^ a b 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. //www.ncbi.nlm.nih.gov/pmc/articles/PMC2787129/.
  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. ^ 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.
  6. ^ 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. //www.ncbi.nlm.nih.gov/pmc/articles/PMC1181964/.
  7. ^ 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)
  8. ^ a b 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. //www.ncbi.nlm.nih.gov/pmc/articles/PMC1976131/.
  9. ^ 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. //www.ncbi.nlm.nih.gov/pmc/articles/PMC447595/.
  10. ^ 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.
  11. ^ a b Luis, J; Rowold, D; Regueiro, M; Caeiro, B; Cinnioglu, C; Roseman, C; Underhill, P; Cavallisforza, L et al. (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. //www.ncbi.nlm.nih.gov/pmc/articles/PMC1182266/.. (Also see Errata)
  12. ^ 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. //www.ncbi.nlm.nih.gov/pmc/articles/PMC2759955/.
  13. ^ a b Goncalves, Rita; Freitas, Ana; Branco, Marta; Rosa, Alexandra; Fernandes, Ana T.; Zhivotovsky, Lev A.; Underhill, Peter A.; Kivisild, Toomas et al. (2005). "Y-chromosome Lineages from Portugal, Madeira and Acores Record Elements of Sephardim and Berber Ancestry". Annals of Human Genetics 69 (4): 443–54. doi:10.1111/j.1529-8817.2005.00161.x. PMID 15996172.
  14. ^ Called "Wairak" and misidentified as Bantu in Luis et al. (2004).

Other references

See also

Evolutionary tree of Human Y-chromosome DNA (Y-DNA) haplogroups
MRC Y-ancestor
A0 A1
A1a A1b
A1b1 BT

External links

Phylogenetic tree and Distribution Maps of Y-DNA haplogroup E