Haplogroup E-P2

Last updated
Haplogroup E-P2
Possible time of origin41,400–49,800 years BP [1]
Coalescence age39,200–41,400 years BP [1]
Possible place of origin East Africa [2] [3]
Ancestor E-P177
Descendants E-V38, E-M215
Defining mutationsDYS391p, L337, L339, L342, L487, L492, L613, P2/PN2, P179, P180, P181

Haplogroup E-P2, also known as E1b1, is a human Y-chromosome DNA haplogroup. E-P2 has two basal branches, E-V38 and E-M215. E-P2 had an ancient presence in the Levant; presently, it is primarily distributed in Africa where it may have originated, and occurs at lower frequencies in the Middle East and Europe.

Contents

Origins

Semino et al. (2004) suggested an origin in East Africa stating: "Both phylogeography and microsatellite variance suggest that E-P2 and its derivative, E-M35, probably originated in eastern Africa." [2]

Trombetta et al. (2011) would also suggested an origin in East Africa:

The new topology here reported has important implications as to the origins of the haplogroup E-P2. Using the principle of the phylogeographic parsimony, the resolution of the E-M215 trifurcation in favor of a common ancestor of E-M2 and E-M329 strongly supports the hypothesis that haplogroup E-P2 originated in eastern Africa, as previously suggested, and that chromosomes E-M2, so frequently observed in sub-Saharan Africa, trace their descent to a common ancestor present in eastern Africa. [3]

Ancient DNA

A sample from the Natufian remains were found to have carried haplogroup E1b1 (1/5; 20%). [4]

At Mota Cave, in Ethiopia, the remains of an ancient Ethiopian male, which was dated to 4500 BP, carried paternal haplogroup E1b1 and maternal haplogroup L3x2a. [5] [6]

Distribution

The main subclades of E1b1 (E-P2): E1b1a (E-V38) and E1b1b (E-M215) in given populations. Geographic distribution of Y chromosome haplogroups of African and European.png
The main subclades of E1b1 (E-P2): E1b1a (E-V38) and E1b1b (E-M215) in given populations.

E-P2 is now found mostly in Africa, mainly in the form of its predominant subclades E-M215 and E-V38. E-M215 is more common in Northern Africa and the Horn of Africa, and is also found at lower frequencies in the Middle East, Europe and Southern Africa. E-V38 is more common in West Africa, Central Africa, Southern Africa and the African Great Lakes, and occurs at lower frequencies in North Africa and Middle East.

The paraclade, referred to as E-P2*, and including cases which are neither in E-V38 or E-M215 are either rare or nonexistent, and so far none have been found. [3]

Semino et al. (2004) found E-P2 (xM35,xM2) in 10.4% of 48 Ethiopian Amhara, 12.8% of 78 Ethiopian Oromo, 1.9% of 53 South African Bantu, and 2.9% of 139 Senegalese. [8]

Wood et al. (2005) have reported finding E-P2(xP1, xM35) in 11% (1/9) of a sample of Oromo from Ethiopia, 11% (1/9) of a sample of Iraqw from Tanzania, 10% (2/20) of a mixed sample of speakers of various South Semitic languages from Ethiopia, 6% (1/18) of a sample of Amhara from Ethiopia, 3% (1/30) of a sample of Ewe from Ghana, 3% (1/32) of a sample of Fante from Ghana, and 3% (1/34) of a sample of Wolof from Gambia/Senegal. [9]

Stefflova et al. (2009) reported one individual out of a sample of 199 African American men from Philadelphia with E-P2 (xM35, xM2). [10]

Cruciani et al. (2002) found E-P2 (xM35, xM2) in: 18% of 22 Ethiopian Jews, 2% of 49 Mossi from Burkina Faso, 3% of 37 Rimaibe also from Burkina Faso, and 6% of 17 Fulbe from Cameroon. [11]

Semino et al. (2002) found E-P2 (xM35, xM2) in 18.2% of 88 Ethiopians. [12] [13]

Moran et al. (2004) found E-P2 (xM35, xM2) in Ethiopian athletes and control groups and reported the following results; General control: 4%(4/95), Arsi control: 8%(7/85), 5-10K: 22%(5/23) and Track and Field: 11%(2/11). [14]

Subclades

E-M215

Haplogroup E-M215 is a subclade of haplogroup E-P2. [1]

E-V38

Haplogroup E-V38 is a subclade of haplogroup E-P2. [1]

E-M329

Main article: Haplogroup E-M329

Haplogroup E-M329 is a subclade of haplogroup E-P2. [1]

Phylogenetics

Phylogenetic history

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 2006ISOGG 2007ISOGG 2008ISOGG 2009ISOGG 2010ISOGG 2011ISOGG 2012
E-P29 21III3A13Eu3H2BE*EEEEEEEEEE
E-M33 21III3A13Eu3H2BE1*E1E1aE1aE1E1E1aE1aE1aE1aE1a
E-M44 21III3A13Eu3H2BE1aE1aE1a1E1a1E1aE1aE1a1E1a1E1a1E1a1E1a1
E-M75 21III3A13Eu3H2BE2aE2E2E2E2E2E2E2E2E2E2
E-M54 21III3A13Eu3H2BE2bE2bE2bE2b1-------
E-P225III414Eu3H2BE3*E3E1bE1b1E3E3E1b1E1b1E1b1E1b1E1b1
E-M2 8III515Eu2H2BE3a*E3aE1b1E1b1aE3aE3aE1b1aE1b1aE1b1aE1b1a1E1b1a1
E-M58 8III515Eu2H2BE3a1E3a1E1b1a1E1b1a1E3a1E3a1E1b1a1E1b1a1E1b1a1E1b1a1a1aE1b1a1a1a
E-M116.2 8III515Eu2H2BE3a2E3a2E1b1a2E1b1a2E3a2E3a2E1b1a2E1b1a2E1ba12removedremoved
E-M149 8III515Eu2H2BE3a3E3a3E1b1a3E1b1a3E3a3E3a3E1b1a3E1b1a3E1b1a3E1b1a1a1cE1b1a1a1c
E-M154 8III515Eu2H2BE3a4E3a4E1b1a4E1b1a4E3a4E3a4E1b1a4E1b1a4E1b1a4E1b1a1a1g1cE1b1a1a1g1c
E-M155 8III515Eu2H2BE3a5E3a5E1b1a5E1b1a5E3a5E3a5E1b1a5E1b1a5E1b1a5E1b1a1a1dE1b1a1a1d
E-M10 8III515Eu2H2BE3a6E3a6E1b1a6E1b1a6E3a6E3a6E1b1a6E1b1a6E1b1a6E1b1a1a1eE1b1a1a1e
E-M35 25III414Eu4H2BE3b*E3bE1b1b1E1b1b1E3b1E3b1E1b1b1E1b1b1E1b1b1removedremoved
E-M78 25III414Eu4H2BE3b1*E3b1E1b1b1aE1b1b1a1E3b1aE3b1aE1b1b1aE1b1b1aE1b1b1aE1b1b1a1E1b1b1a1
E-M148 25III414Eu4H2BE3b1aE3b1aE1b1b1a3aE1b1b1a1c1E3b1a3aE3b1a3aE1b1b1a3aE1b1b1a3aE1b1b1a3aE1b1b1a1c1E1b1b1a1c1
E-M81 25III414Eu4H2BE3b2*E3b2E1b1b1bE1b1b1b1E3b1bE3b1bE1b1b1bE1b1b1bE1b1b1bE1b1b1b1E1b1b1b1a
E-M107 25III414Eu4H2BE3b2aE3b2aE1b1b1b1E1b1b1b1aE3b1b1E3b1b1E1b1b1b1E1b1b1b1E1b1b1b1E1b1b1b1aE1b1b1b1a1
E-M165 25III414Eu4H2BE3b2bE3b2bE1b1b1b2E1b1b1b1b1E3b1b2E3b1b2E1b1b1b2aE1b1b1b2aE1b1b1b2aE1b1b1b2aE1b1b1b1a2a
E-M123 25III414Eu4H2BE3b3*E3b3E1b1b1cE1b1b1cE3b1cE3b1cE1b1b1cE1b1b1cE1b1b1cE1b1b1cE1b1b1b2a
E-M34 25III414Eu4H2BE3b3a*E3b3aE1b1b1c1E1b1b1c1E3b1c1E3b1c1E1b1b1c1E1b1b1c1E1b1b1c1E1b1b1c1E1b1b1b2a1
E-M136 25III414Eu4H2BE3ba1E3b3a1E1b1b1c1aE1b1b1c1a1E3b1c1aE3b1c1aE1b1b1c1a1E1b1b1c1a1E1b1b1c1a1E1b1b1c1a1E1b1b1b2a1a1

Research publications

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

Phylogenetic trees

This phylogenetic tree of haplogroup subclades is based on the YCC 2008 tree of Karafet (2008) [15] and subsequent published research.

E1b1 (P2)

See also

Genetics

Y-DNA E subclades

Y-DNA backbone tree

References

  1. 1 2 3 4 5 "E-P177 YTree".
  2. 1 2 Semino, Ornella; et al. (May 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". American Journal of Human Genetics. 74 (5): 1023–1034. doi:10.1086/386295. ISSN   0002-9297. OCLC   4922408279. PMC   1181965 . PMID   15069642. 17859431.
  3. 1 2 3 Trombetta et al. (2011)
  4. Martiniano, Rui; Sanctis, Bianca De; Hallast, Pille; Durbin, Richard (20 December 2020). "Supplementary Material: Placing ancient DNA sequences into reference phylogenies". Molecular Biology and Evolution. 39 (2): 2020.12.19.423614. bioRxiv   10.1101/2020.12.19.423614 . doi:10.1093/molbev/msac017. PMC   8857924 . PMID   35084493. S2CID   229549849.
  5. Llorente, M. Gallego; et al. (13 November 2015). "Ancient Ethiopian genome reveals extensive Eurasian admixture in Eastern Africa". Science. 350 (6262): 820–822. Bibcode:2015Sci...350..820L. doi:10.1126/science.aad2879. hdl: 2318/1661894 . PMID   26449472. S2CID   25743789.
  6. Llorente, M. Gallego; et al. (13 November 2015). "Supplementary Materials: Ancient Ethiopian genome reveals extensive Eurasian admixture in Eastern Africa" (PDF). Science. 350 (6262): 820–822. Bibcode:2015Sci...350..820L. doi:10.1126/science.aad2879. hdl: 2318/1661894 . PMID   26449472. S2CID   25743789.
  7. Badro, Danielle A.; Douaihy, Bouchra; Haber, Marc; Youhanna, Sonia C.; Salloum, Angélique; Ghassibe-Sabbagh, Michella; Johnsrud, Brian; Khazen, Georges; Matisoo-Smith, Elizabeth; Soria-Hernanz, David F.; Wells, R. Spencer; Tyler-Smith, Chris; Platt, Daniel E.; Zalloua, Pierre A.; Consortium, The Genographic (2013-01-30). "Y-Chromosome and mtDNA Genetics Reveal Significant Contrasts in Affinities of Modern Middle Eastern Populations with European and African Populations". PLOS ONE. 8 (1): e54616. Bibcode:2013PLoSO...854616B. doi: 10.1371/journal.pone.0054616 . ISSN   1932-6203. PMC   559847 . PMID   23382925.
  8. Semino et al. (2004)
  9. Wood et al. (2005)
  10. Stefflova et al. (2009)
  11. Cruciani et al. (2002)
  12. Semino et al. (2002)
  13. Underhill et al. (2000)
  14. Moran et al. (2004)
  15. Karafet et al. (2008)

Bibliography

  • Cruciani, Fulvio; Santolamazza, Piero; Shen, Peidong; MacAulay, Vincent; Moral, Pedro; Olckers, Antonel; Modiano, David; Holmes, Susan; Destro-Bisol, Giovanni; Coia, Valentina; Wallace, Douglas C.; Oefner, Peter J.; Torroni, Antonio; Cavalli-Sforza, L. Luca; Scozzari, Rosaria; Underhill, Peter A. (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
  • Cruciani, Fulvio; La Fratta, Roberta; Santolamazza, Piero; Sellitto, Daniele; Pascone, Roberto; Moral, Pedro; Watson, Elizabeth; Guida, Valentina; Colomb, Eliane Beraud; Zaharova, Boriana; Lavinha, João; Vona, Giuseppe; Aman, Rashid; Calì, Francesco; Akar, Nejat; Richards, Martin; Torroni, Antonio; Novelletto, Andrea; Scozzari, Rosaria (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
  • 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
  • Moran, Colin N.; Scott, Robert A.; Adams, Susan M.; Warrington, Samantha J.; Jobling, Mark A.; Wilson, Richard H.; Goodwin, William H.; Georgiades, Evelina; Wolde, Bezabhe; Pitsiladis, Yannis P. (2004), "Y chromosome haplogroups of elite Ethiopian endurance runners", Human Genetics, 115 (6): 492–7, doi:10.1007/s00439-004-1202-y, PMID   15503146, S2CID   13960753
  • Semino, Ornella; Santachiara-Benerecetti, A. Silvana; Falaschi, Francesco; Cavalli-Sforza, L. Luca; Underhill, Peter A. (2002), "Ethiopians and Khoisan Share the Deepest Clades of the Human Y-Chromosome Phylogeny", The American Journal of Human Genetics, 70 (1): 265–268, doi:10.1086/338306, PMC   384897 , PMID   11719903
  • Semino, Ornella; Magri, Chiara; Benuzzi, Giorgia; Lin, Alice A.; Al-Zahery, Nadia; Battaglia, Vincenza; MacCioni, Liliana; Triantaphyllidis, Costas; Shen, Peidong; Oefner, Peter J.; Zhivotovsky, Lev A.; King, Roy; Torroni, Antonio; Cavalli-Sforza, L. Luca; Underhill, Peter A.; Santachiara-Benerecetti, A. Silvana (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
  • Stefflova, Klara; Dulik, Matthew C.; Pai, Athma A.; Walker, Amy H.; Zeigler-Johnson, Charnita M.; Gueye, Serigne M.; Schurr, Theodore G.; Rebbeck, Timothy R. (2009), Relethford, John (ed.), "Evaluation of Group Genetic Ancestry of Populations from Philadelphia and Dakar in the Context of Sex-Biased Admixture in the Americas", PLOS ONE, 4 (11): e7842, Bibcode:2009PLoSO...4.7842S, doi: 10.1371/journal.pone.0007842 , PMC   2776971 , PMID   19946364
  • Trombetta, Beniamino; Cruciani, Fulvio; Sellitto, Daniele; Scozzari, Rosaria (2011), MacAulay, Vincent (ed.), "A New Topology of the Human Y Chromosome Haplogroup E1b1 (E-P2) Revealed through the Use of Newly Characterized Binary Polymorphisms", PLOS ONE, 6 (1): e16073, Bibcode:2011PLoSO...616073T, doi: 10.1371/journal.pone.0016073 , PMC   3017091 , PMID   21253605
  • Underhill, Peter A.; Shen, Peidong; Lin, Alice A.; Jin, Li; Passarino, Giuseppe; Yang, Wei H.; Kauffman, Erin; Bonné-Tamir, Batsheva; Bertranpetit, Jaume; Francalacci, Paolo; Ibrahim, Muntaser; Jenkins, Trefor; Kidd, Judith R.; Mehdi, S. Qasim; Seielstad, Mark T.; Wells, R. Spencer; Piazza, Alberto; Davis, Ronald W.; Feldman, Marcus W.; Cavalli-Sforza, L. Luca; Oefner, Peter. J. (2000), "Y chromosome sequence variation and the history of human populations", Nature Genetics, 26 (3): 358–61, doi:10.1038/81685, PMID   11062480, S2CID   12893406
  • Wood, Elizabeth T; Stover, Daryn A; Ehret, Christopher; Destro-Bisol, Giovanni; Spedini, Gabriella; McLeod, Howard; Louie, Leslie; Bamshad, Mike; Strassmann, Beverly I; Soodyall, Himla; Hammer, Michael F (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

Sources for conversion tables