Haplogroup E-P2

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Haplogroup E-P2
Possible time of origin 30,000 - 38,200 years BP[1]
Possible place of origin East Africa[1][2]
Ancestor E-P177
Descendants E-V38, E-M215
Defining mutations DYS391p, L337, L339, L342, L487, L492, L613, P2/PN2, P179, P180, P181

In human population genetics, haplogroups define the major lineages of direct paternal (male) lines back to a shared common ancestor in Africa. E-P2 is the most dominant Y-Chromosome lineage in Africa and exists at lower frequencies in the Middle East and Europe. The lineage is thought to have originated in or near modern day Ethiopia.

Origin[edit]

E-P2 is likely to have originated in the highlands of East Africa's Ethiopia, as this is the place with the high frequency of ancestral subclades of this haplogroup. E-P2 is the ancestor of the majority of E subclade lineages existing today. It has diverged into two subclades: E-V38 and E-M215 approximately 24-27,000 years ago.[3]

Trombetta et al. 2011, further confirmed the previously suggested place of origin of this haplogroup by stating:

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.[2]

Distribution[edit]

This haplogroup is found mostly in Africa, mainly in the forms of its predominant sub-clades, E-V38 and E-M215, with E-V38 being more common in Western Africa, Central Africa, southern Eastern Africa, and Southern Africa and E-M215 being more common in Northern Africa and northern East Africa as well as being found in lower frequencies also in Southern Africa and Western Eurasia.

The paraclade, referred to as E-P2*, and including cases which are neither in E-V38 or E-M215 are either rare or nonexistent. So far none have been found.[2]

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.[1]

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.[4]

Stefflova et al. (2009) reported one individual out of a sample of 199 African American men from Philadelphia with E-P2 (xM35, xM2).[5]

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.[6]

Semino et al. (2002) found E-P2 (xM35, xM2) in 18.2% of 88 Ethiopians.[7][8]

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).

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 YCC 2008 treeKarafet2008[9] and subsequent published research.

  • E-P2 (DYS391p, L337, L339, L487, L492, L613, P2/PN2, P179, P180, P181)
    • E-V38 (L222.1, V38, V100)
      • E-M2 (DYS271/M2/SY81, P1/PN1, P189, P293, V43, V95)
      • E-M329 (M329)
    • E-M215 (M215/PAGES00040)
      • E-M35 (L336, M35.1, M243)
      • E-M281 (M281, V16)

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. 

References[edit]

Additional sources[edit]

  • 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, 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 
  • 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: 265, 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, 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, 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 
  • 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 

External links[edit]