Haplogroup E-V38

Haplogroup E-V38/ E3a/ E1b1a
Possible time of origin 42,300 years BP[1]
Possible place of origin Horn of Africa [2]
Ancestor E-P2
Descendants E-M2, E-M329
Defining mutations L222.1, V38, V100

Haplogroup E-V38 is a human Y-chromosome DNA haplogroup. It is primarily distributed in Africa. E-V38 has two basal branches, E-M329 (formerly E1b1c or E1b1*) and E-M2 (formerly E1b1a). The E-M329 subclade is today almost exclusively found in Ethiopia. E-M2 is the predominant subclade in Western Africa, Central Africa, Southern Africa and the region of African Great Lakes, and occurs at moderate frequencies in North Africa and Middle East. This is also a Haitian people Haplogroup.

Origins

The discovery of two SNPs (V38 and V100) by Trombetta et al. (2011) significantly redefined the E-V38 phylogenetic tree. This led the authors to suggest that E-V38 may have originated in East Africa. V38 joins the West African-affiliated E-M2 and the northern East African-affiliated E-M329 with an earlier common ancestor who, like E-P2, may have also originated in East Africa.[2] The downstreams SNP E-M180 possibly originated on the moist south-central Saharan savannah/grassland of northern Africa between 14,000-10,000 years BP.[3][4][5][6] According to Wood et al. (2005) and Rosa et al. (2007), such population movements changed the pre-existing population Y chromosomal diversity in Central, Southern and southern East Africa, replacing the previous haplogroups frequencies in these areas with the now dominant E1b1a1 lineages. Traces of earlier inhabitants, however, can be observed today in these regions via the presence of the Y DNA haplogroups A1a, A1b, A2, A3, and B-M60 that are common in certain populations, such as the Mbuti and Khoisan.[7][8][9]

Distribution

This haplogroup's frequency and diversity are highest in the West Africa region. Within Africa, E-V38 displays a west-to-east as well as a south-to-north clinal distribution. In other words, the frequency of the haplogroup decreases as one moves from western and southern Africa toward the eastern and northern parts of the continent.[10]

Subclades

E1b1a1

E1b1a1 is defined by markers DYS271/M2/SY81, M291, P1/PN1, P189, P293, V43, and V95. E-M2 is a diverse haplogroup with many branches.

E1b1a2

E1b1a2 is defined by the SNP mutation M329.[Note 1] The majority of the cases observed have been found in East Africa. It has been found in ancient DNA isolated from a 4,500 year old Ethiopian fossil called Mota.[11][12][13] This haplogroup is frequent in Southwestern Ethiopia, especially among Omotic-speaking populations.[14][15] Semino et al. (2004) found 2 Ethiopian Oromo in a study of >2400 individuals, including 78 Oromo.[16] Cadenas et al. (2007) found 1 case in Qatar, out of 72 people tested there in that study.[17]

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-P2921III3A13Eu3H2BE*EEEEEEEEEE
E-M3321III3A13Eu3H2BE1*E1E1aE1aE1E1E1aE1aE1aE1aE1a
E-M4421III3A13Eu3H2BE1aE1aE1a1E1a1E1aE1aE1a1E1a1E1a1E1a1E1a1
E-M7521III3A13Eu3H2BE2aE2E2E2E2E2E2E2E2E2E2
E-M5421III3A13Eu3H2BE2bE2bE2bE2b1-------
E-P225III414Eu3H2BE3*E3E1bE1b1E3E3E1b1E1b1E1b1E1b1E1b1
E-M28III515Eu2H2BE3a*E3aE1b1E1b1aE3aE3aE1b1aE1b1aE1b1aE1b1a1E1b1a1
E-M588III515Eu2H2BE3a1E3a1E1b1a1E1b1a1E3a1E3a1E1b1a1E1b1a1E1b1a1E1b1a1a1aE1b1a1a1a
E-M116.28III515Eu2H2BE3a2E3a2E1b1a2E1b1a2E3a2E3a2E1b1a2E1b1a2E1ba12removedremoved
E-M1498III515Eu2H2BE3a3E3a3E1b1a3E1b1a3E3a3E3a3E1b1a3E1b1a3E1b1a3E1b1a1a1cE1b1a1a1c
E-M1548III515Eu2H2BE3a4E3a4E1b1a4E1b1a4E3a4E3a4E1b1a4E1b1a4E1b1a4E1b1a1a1g1cE1b1a1a1g1c
E-M1558III515Eu2H2BE3a5E3a5E1b1a5E1b1a5E3a5E3a5E1b1a5E1b1a5E1b1a5E1b1a1a1dE1b1a1a1d
E-M108III515Eu2H2BE3a6E3a6E1b1a6E1b1a6E3a6E3a6E1b1a6E1b1a6E1b1a6E1b1a1a1eE1b1a1a1e
E-M3525III414Eu4H2BE3b*E3bE1b1b1E1b1b1E3b1E3b1E1b1b1E1b1b1E1b1b1removedremoved
E-M7825III414Eu4H2BE3b1*E3b1E1b1b1aE1b1b1a1E3b1aE3b1aE1b1b1aE1b1b1aE1b1b1aE1b1b1a1E1b1b1a1
E-M14825III414Eu4H2BE3b1aE3b1aE1b1b1a3aE1b1b1a1c1E3b1a3aE3b1a3aE1b1b1a3aE1b1b1a3aE1b1b1a3aE1b1b1a1c1E1b1b1a1c1
E-M8125III414Eu4H2BE3b2*E3b2E1b1b1bE1b1b1b1E3b1bE3b1bE1b1b1bE1b1b1bE1b1b1bE1b1b1b1E1b1b1b1a
E-M10725III414Eu4H2BE3b2aE3b2aE1b1b1b1E1b1b1b1aE3b1b1E3b1b1E1b1b1b1E1b1b1b1E1b1b1b1E1b1b1b1aE1b1b1b1a1
E-M16525III414Eu4H2BE3b2bE3b2bE1b1b1b2E1b1b1b1b1E3b1b2E3b1b2E1b1b1b2aE1b1b1b2aE1b1b1b2aE1b1b1b2aE1b1b1b1a2a
E-M12325III414Eu4H2BE3b3*E3b3E1b1b1cE1b1b1cE3b1cE3b1cE1b1b1cE1b1b1cE1b1b1cE1b1b1cE1b1b1b2a
E-M3425III414Eu4H2BE3b3a*E3b3aE1b1b1c1E1b1b1c1E3b1c1E3b1c1E1b1b1c1E1b1b1c1E1b1b1c1E1b1b1c1E1b1b1b2a1
E-M13625III414Eu4H2BE3ba1E3b3a1E1b1b1c1aE1b1b1c1a1E3b1c1aE3b1c1aE1b1b1c1a1E1b1b1c1a1E1b1b1c1a1E1b1b1c1a1E1b1b1b2a1a1

Research publications

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

Tree

This phylogenetic tree of haplogroup subclades is based on the Y-Chromosome Consortium (YCC) 2008 Tree,[18] the ISOGG Y-DNA Haplogroup E Tree,[4] and subsequent published research.

  • E1b1a (L222.1, V38, V100)
    • E1b1a1 (DYS271/M2/SY81, M291, P1/PN1, P189, P293, V43, V95, Z1101, Z1107, Z1116, Z1120, Z1122, Z1123, Z1124, Z1125, Z1127, Z1130, Z1133)
    • E1b1a2 (M329)
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 [χ 6]
L     T    K2a [χ 7]        K2b [χ 8]     K2c     K2d K2e [χ 9]  
K-M2313 [χ 10]     K2b1 [χ 11] P [χ 12]
NO   S [χ 13]  M [χ 14]    P1     P2
N O Q R

See also

Genetics

Y-DNA E subclades

Notes

  1. ↑ It was formerly known as E1b1c.

References

  1. ↑ https://www.yfull.com/tree/E-V38/
  2. 1 2 Trombetta, Beniamino; Fulvio Cruciani; Daniele Sellitto; Rosaria Scozzari (6 January 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. Retrieved 7 January 2010.
  3. ↑ https://www.yfull.com/tree/E-V43/
  4. 1 2 International Society of Genetic Genealogy (3 February 2010). "Y-DNA Haplogroup E and its Subclades - 2010". Retrieved 17 December 2010.
  5. ↑ Adams, Jonathan. "Africa During the Last 150,000 Years". Archived from the original on 1 May 2006. Retrieved 26 January 2011.
  6. ↑ Montano, Valeria; Gianmarco Ferri; Veronica Marcari; Chiara Batini; Okorie Anyaele; Giovanni Destro-Bisol; David Comas (1 July 2011). "The Bantu expansion revisited a new analysis of Y chromosome variation in Central Western Africa". Molecular Ecology. 20 (13): 2693–2708. doi:10.1111/j.1365-294X.2011.05130.x. PMID 21627702.
  7. ↑ Rosa, Alexandra; Carolina Ornelas; Mark A Jobling; António Brehm; Richard Villems (27 July 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.
  8. ↑ Wood, Elizabeth T; Daryn A Stover, Christopher Ehret, Giovanni Destro-Bisol, Gabriella Spedini, Howard McLeod, Leslie Louie, Mike Bamshad, Beverly I Strassmann, Himla Soodyall and Michael F Hammer (27 Apr 2005). "Contrasting patterns of Y chromosome and mtDNA variation in Africa: evidence for sex-biased demographic processes". European Journal of Human Genetics. 13 (7): 867–876. doi:10.1038/sj.ejhg.5201408. PMID 15856073. Retrieved 2010-10-20.
  9. ↑ Underhill, P.A; Passarino G, Lin AA, Shen P, Mirazón Lahr M, Foley RA, Oefner PJ, Cavalli-Sforza LL. (Jan 2001). "The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations". Annals of Human Genetics. 65 (1): 43–62. doi:10.1046/j.1469-1809.2001.6510043.x. PMID 11415522.
  10. ↑ Luis, J.R.; D.J.Rowold (March 2004). "The Levant versus the Horn of Africa: Evidence for Bidirectional Corridors of Human Migrations". The American Journal of Human Genetics. 74 (3): 532–544. doi:10.1086/382286. PMC 1182266. PMID 14973781. Retrieved 2010-09-20.
  11. ↑ http://science.sciencemag.org/content/suppl/2015/10/07/science.aad2879.DC1
  12. ↑ Llorente, M. Gallego; Jones, E. R.; Eriksson, A.; Siska, V.; Arthur, K. W.; Arthur, J. W.; Curtis, M. C.; Stock, J. T.; Coltorti, M. (2015-11-13). "Ancient Ethiopian genome reveals extensive Eurasian admixture in Eastern Africa". Science. 350 (6262): 820–822. doi:10.1126/science.aad2879. ISSN 0036-8075. PMID 26449472.
  13. ↑ https://www.yfull.com/tree/E-M329/
  14. ↑ Plaster et al. Y-DNA E subclades
  15. ↑ C.A., Plaster, (2011-09-28). "Variation in Y chromosome, mitochondrial DNA and labels of identity on Ethiopia". discovery.ucl.ac.uk. Retrieved 2018-06-27.
  16. ↑ Semino, Ornella; Magri, C; Benuzzi, G; Lin, AA; Al-Zahery, N; Battaglia, V; MacCioni, L; Triantaphyllidis, C; 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". American Journal of Human Genetics. 74 (5): 1023–1034. doi:10.1086/386295. PMC 1181965. PMID 15069642
  17. ↑ Cadenas, Alicia M.; Lev A Zhivotovsky, Luca L Cavalli-Sforza, Peter A Underhill and Rene J Herrera (10 October 2007). "Y-chromosome diversity characterizes the Gulf of Oman". European Journal of Human Genetics. 16 (3): 374–386. doi:10.1038/sj.ejhg.5201934. PMID 17928816.
  18. ↑ Karafet, Tatiana M.; Fernando L. Mendez; Monica B. Meilerman; Peter A. Underhill; Stephen L. Zegura; Michael F. Hammer (May 2008). "New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree". Genome Research. 18 (5): 830–838. doi:10.1101/gr.7172008. PMC 2336805. PMID 18385274.
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