Haplogroup E-P2

Haplogroup E-P2
Haplogroup E-P2
Possible time of origin	41,400–49,800 years BP
Coalescence age	39,200–41,400 years BP
Possible place of origin	East Africa
Ancestor	E-P177
Descendants	E-V38, E-M215
Defining mutations	DYS391p, L337, L339, L342, L487, L492, L613, P2/PN2, P179, P180, P181

Last updated September 03, 2023

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 East Africa and 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.

Origins

Semino et al. (2004) suggested an origin in East Africa: "Both phylogeography and microsatellite variance suggest that E-P2 and its derivative, E-M35, probably originated in eastern Africa."^[2] Trombetta et al. (2011) 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

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 haplogroups E1b1 and L3x2a.^[5]^[6]

Distribution

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 low 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. 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.^[7]

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.^[8]

Stefflova et al. (2009) reported one individual out of a sample of 199 African American men from Philadelphia with E-P2 (xM35, xM2).^[9]

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.^[10]

Semino et al. (2002) found E-P2 (xM35, xM2) in 18.2% of 88 Ethiopians.^[11]^[12]

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).^[13]

Subclades

E-V38

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

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 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 tree of Karafet (2008)^[14] and subsequent published research.

E1b1 (P2)

E1b1a (V38)

	E1b1a1 (M2)

	E1b1a2 (M329)

E1b1b (M215)

E1b1b1 (M35)

	E1b1b1a (V68)

	E1b1b1b (Z827)

E1b1b2 (M281)

Related Research Articles

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E-M215, also known as E1b1b-M215, is a human Y-chromosome DNA haplogroup. E-M215 has two basal branches, E-M35 and E-M281. E-M35 is primarily distributed in North Africa and the Horn of Africa, and occurs at lower frequencies in the Middle East, Europe, and Southern Africa. E-M281 occurs at a low frequency in Ethiopia.

Haplogroup A is a human Y-chromosome DNA haplogroup, which includes all living human Y chromosomes. Bearers of extant sub-clades of haplogroup A are almost exclusively found in Africa, in contrast with haplogroup BT, bearers of which participated in the Out of Africa migration of anatomically modern humans. The known branches of haplogroup A are A00, A0, A1a, and A1b1; these branches are only very distantly related, and are not more closely related to each other than they are to haplogroup BT.

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Haplogroup E-V38, also known as E1b1a-V38, is a human Y-chromosome DNA haplogroup. E-V38 is primarily distributed in sub-Saharan Africa. E-V38 has two basal branches, E-M329 and E-M2. E-M329 is a subclade mostly found in East Africa. E-M2 is the predominant subclade in West Africa, Central Africa, Southern Africa, and the region of African Great Lakes; it also occurs at moderate frequencies in some parts of North Africa, West Asia, and Southern Europe.

In human genetics, a human Y-chromosome DNA haplogroup is a haplogroup defined by mutations in the non-recombining portions of DNA from the male-specific Y chromosome. Many people within a haplogroup share similar numbers of short tandem repeats (STRs) and types of mutations called single-nucleotide polymorphisms (SNPs).

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E-M35, also known as E1b1b1-M35, is a human Y-chromosome DNA haplogroup. E-M35 has two basal branches, E-V68 and E-Z827. E-V68 and E-Z827 are primarily distributed in North Africa and the Horn of Africa, and occur at lower frequencies in the Middle East, Europe, and Southern Africa.

Haplogroup E-P147 is a human Y-chromosome DNA haplogroup. Haplogroup E-P147, along with the less common haplogroup E-M75, is one of the two main branches of the older haplogroup E-M96. The E-P147 clade is commonly observed throughout Africa and is divided into two subclades: the less common, haplogroup E-M132, and the more common, haplogroup E-P177.

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Haplogroup E-M75 is a human Y-chromosome DNA haplogroup. Along with haplogroup E-P147, it is one of the two main branches of the older haplogroup E-M96.

Haplogroup E-V68, also known as E1b1b1a, is a major human Y-chromosome DNA haplogroup found in North Africa, the Horn of Africa, Western Asia and Europe. It is a subclade of the larger and older haplogroup, known as E1b1b or E-M215. The E1b1b1a lineage is identified by the presence of a single nucleotide polymorphism (SNP) mutation on the Y chromosome, which is known as V68. It is a subject of discussion and study in genetics as well as genetic genealogy, archaeology, and historical linguistics.

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E-Z827, also known as E1b1b1b, is a major human Y-chromosome DNA haplogroup. It is the parent lineage to the E-Z830 and E-V257 subclades, and defines their common phylogeny. The former is predominantly found in the Middle East; the latter is most frequently observed in the Middle East and North Africa. E-Z827 is also found at lower frequencies in Europe, and in isolated parts of Southeast Africa.

In human genetics, Y Haplogroup E-M123 is a Y-chromosome haplogroup, and defined by the single nucleotide polymorphism (SNP) mutation M123. Like its closest relatives within the larger E-M215 haplogroup, E-M123 is found in Asia, Europe and Africa.

Haplogroup A-L1085, also known as haplogroup A0-T is a human Y-DNA haplogroup. It is part of the paternal lineage of almost all humans alive today. The SNP L1085 has played two roles in population genetics: firstly, most Y-DNA haplogroups have diverged from it and; secondly, it defines the undiverged basal clade A-L1085*.

Haplogroup E-M329, also known as E1b1a2, is a human Y-chromosome DNA haplogroup. E-M329 is mostly found in East Africa.

Haplogroup E-M2, also known as E1b1a1-M2, is a human Y-chromosome DNA haplogroup. E-M2 is primarily distributed within sub-Saharan Africa. More specifically, E-M2 is the predominant subclade in West Africa, Central Africa, Southern Africa, and the region of the African Great Lakes; it also occurs at low to moderate frequencies in North Africa, and at low frequencies in the Middle East. E-M2 has several subclades, but many of these subhaplogroups are included in either E-L485 or E-U175. E-M2 is especially common among indigenous Africans who speak Niger-Congo languages, and was spread to Southern Africa and East Africa through the Bantu expansion.

References

1 2 3 4 "E-P177 YTree".
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.
1 2 3 Trombetta et al. (2011)
↑ 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.
↑ 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.
↑ 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.
↑ Semino et al. (2004)
↑ Wood et al. (2005)
↑ Stefflova et al. (2009)
↑ Cruciani et al. (2002)
↑ Semino et al. (2002)
↑ Underhill et al. (2000)
↑ Moran et al. (2004)
↑ Karafet et al. (2008)

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Sources for conversion tables

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[vanOven2014-15] 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. S2CID 23291764.

[ISOGG2015-16] International Society of Genetic Genealogy (ISOGG; 2015), Y-DNA Haplogroup Tree 2015. (Access date: 1 February 2015.)

[A0-T-17] Haplogroup A0-T is also known as A-L1085 (and previously as A0'1'2'3'4).

[A1-18] Haplogroup A1 is also known as A1'2'3'4.

[LT-19] Haplogroup LT (L298/P326) is also known as Haplogroup K1.

[K2-20] 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.

[K2a-21] Haplogroup K2a (M2308) and its primary subclade K-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. doi:10.1038/ng.3559. PMC 4884158 . PMID 27111036. In the past, other haplogroups, including NO (M214) and K2e had also been identified with the name "K2a".

[K2b-22] Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS.

[K2e-23] Haplogroup K2e (K-M147) was previously known as "Haplogroup X" and "K2a" (but is a sibling subclade of the present K2a).

[K-M2313-24] K-M2313*, which as yet has no phylogenetic name, has been documented in two living individuals, who have ethnic ties to India and South East Asia. In addition, K-Y28299, which appears to be a primary branch of K-M2313, has been found in three living individuals from India. See: Poznik op. cit.; YFull YTree v5.08, 2017, "K-M2335", and; PhyloTree, 2017, "Details of the Y-SNP markers included in the minimal Y tree" (Access date of these pages: 9 December 2017)

[K2b1-25] Haplogroup K2b1 (P397/P399) is also known as Haplogroup MS, but has a broader and more complex internal structure.

[P-26] Haplogroup P (P295) is also klnown as K2b2.

[S-27] Haplogroup S, as of 2017, is also known as K2b1a. (Previously the name Haplogroup S was assigned to K2b1a4.)

[M-28] Haplogroup M, as of 2017, is also known as K2b1b. (Previously the name Haplogroup M was assigned to K2b1d.)

[YFull-1] 1 2 3 4 "E-P177 YTree".

[Semino-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.

[Trombetta2011-3] 1 2 3 Trombetta et al. (2011)

[Martiniano-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.

[Semino2004-7] Semino et al. (2004)

[Wood2005-8] Wood et al. (2005)

[Stefflova2009-9] Stefflova et al. (2009)

[Cruciani2002-10] Cruciani et al. (2002)

[Semino2002-11] Semino et al. (2002)

[Underhill2000-12] Underhill et al. (2000)

[Moran2004-13] Moran et al. (2004)

[Karafet2008-14] Karafet et al. (2008)

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