Haplogroup E-P2

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 or Somalia.

Origin

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

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 North Africa, Western Africa, Central Africa, southern Eastern Africa, and Southern Africa and E-M215 being more common in Northern Africa and Horn of 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

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 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

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

α Jobling and Tyler-Smith 2000 and Kaladjieva 2001
β Underhill 2000
γ Hammer 2001
δ Karafet 2001
ε Semino 2000
ζ Su 1999
η Capelli 2001

Phylogenetic trees

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)

Phylogenetic tree of human Y-chromosome DNA haplogroups ^{[χ 1]}^{[χ 2]}

	"Y-chromosomal Adam"
	A00	A0-T ^{[χ 3]}
	A0	A1 ^{[χ 4]}
	A1a	A1b
	A1b1	BT
	B	CT
	DE	CF
	D	E		C	F
	F1	F2	F3	GHIJK
	G	HIJK
	IJK	H
	IJ	K
	I	J		LT ^{[χ 5]}	K2
	L	T ^{[χ 6]}		K2a ^{[χ 7]}	K2b ^{[χ 8]}	K2c	K2d	K2e ^{[χ 9]}
	K2a1		K2b1 ^{[χ 10]}	P ^{[χ 11]}
	NO		S ^{[χ 12]}	M ^{[χ 13]}		P1	P2
	NO1			Q	R
	N	O
Y-DNA by population Famous Y-DNA haplotypes
↑ 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. PMID 24166809. doi:10.1002/humu.22468. ↑ International Society of Genetic Genealogy (ISOGG; 2015), Y-DNA Haplogroup Tree 2015. (Access date: 1 February 2015.) ↑ Haplogroup A0-T is also known as A0'1'2'3'4. ↑ Haplogroup A1 is also known as A1'2'3'4. ↑ Haplogroup LT (L298/P326) is also known as Haplogroup K1. ↑ Between 2002 and 2008, Haplogroup T (M184) was known as "Haplogroup K2" – that name has since been re-assigned to K-M526, the sibling of Haplogroup LT. ↑ Haplogroup K2a (M2308) and the new subclade K2a1 (M2313) were separated from Haplogroup NO (F549) in 2016. (This followed the publication of: Poznik GD, Xue Y, Mendez FL, et al. (2016). "Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences". Nature Genetics. 48 (6): 593–9. PMC 4884158 . PMID 27111036. doi:10.1038/ng.3559. In the past, other haplogroups, including NO1 (M214) and K2e had also been identified with the name "K2a". ↑ Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS. ↑ Haplogroup K2e (K-M147) was previously known as "Haplogroup X" and "K2a" (but is a sibling subclade of the present K2a). ↑ Haplogroup K2b1 (P397/P399) is also known as Haplogroup MS, but has a broader and more complex internal structure. ↑ Haplogroup P (P295) is also klnown as K2b2. ↑ Haplogroup S, as of 2017, is also known as K2b1a. (Previously the name Haplogroup S was assigned to K2b1a4.) ↑ Haplogroup M, as of 2017, is also known as K2b1b. (Previously the name Haplogroup M was assigned to K2b1d.)

References

Additional sources

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, PMC 447595 , PMID 11910562, doi:10.1086/340257
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, PMC 1181964 , PMID 15042509, doi:10.1086/386294
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, PMC 2336805 , PMID 18385274, doi:10.1101/gr.7172008
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, PMID 15503146, doi:10.1007/s00439-004-1202-y
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, PMC 384897 , PMID 11719903, doi:10.1086/338306
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, PMC 1181965 , PMID 15069642, doi:10.1086/386295
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, PMC 2776971 , PMID 19946364, doi:10.1371/journal.pone.0007842
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, PMC 3017091 , PMID 21253605, doi:10.1371/journal.pone.0016073
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, PMID 11062480, doi:10.1038/81685
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, PMID 15856073, doi:10.1038/sj.ejhg.5201408

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