Haplogroup E-V38

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Haplogroup E-V38 (former E3a / E1b1a)
Possible time of origin41,400 years BP [1]
Coalescence age39,200 years BP [1]
Possible place of origin East Africa [2] [3]
Ancestor E-P2
Descendants E-M2, E-M329
Defining mutationsL222.1, V38, V100

Haplogroup E-V38, also known as E1b1a-V38, is a major human Y-chromosome DNA haplogroup. E-V38 is primarily distributed in Africa. E-V38 has two basal branches, E-M329 and E-M2. [2] [a] [b] E-M329 is a subclade mostly found in East Africa. [2] 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 North Africa, West Asia, and Southern Europe.

Contents

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 Northeast African-affiliated E-M329 with an earlier common ancestor who, like E-P2, may have also originated in East Africa. [2] The downstream SNP E-M180 may have originated in the humid south-central Saharan savanna/grassland of North Africa between 14,000 BP and 10,000 BP. [4] [5] [6] [7] 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 Southeastern Africa, replacing the previous haplogroup frequencies (haplogroups A and B-M60) 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. [8] [9] [10] Shriner et al. (2018) similarly suggests that haplogroup E1b1a-V38 traversed across the Green Sahara from east to west around 19,000 years ago, where E1b1a1-M2 may have subsequently originated in West Africa or Central Africa. Shriner et al. (2018) also traces this movement via sickle cell mutation, which likely originated during the Green Sahara period. [3]

Ancient DNA

Gad et al. (2021) indicates that the ancient Egyptian mummies of Ramesses III and Unknown Man E, possibly Pentawere, carried haplogroup E1b1a. [11]

At Cabeço da Amoreira, in Portugal, an enslaved West African man, who may have been from the Senegambian coastal region of Gambia, Mauritania, or Senegal, and carried haplogroups E1b1a and L3b1a, was buried among shell middens between the 16th century CE and the 18th century CE. [12]

Distribution

E-V38's frequency and diversity are highest in West Africa. 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 Africa. [13]

Subclades

E-M2

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.

E-M329

E1b1a2 is defined by the SNP mutation M329. [c] E-M329 is mostly found in East Africa. [2] E-M329 is also frequent in Southwestern Ethiopia, especially among Omotic-speaking populations. [14] [15]

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-P2 25III414Eu3H2BE3*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 Y-Chromosome Consortium (YCC) 2008 Tree, [16] the ISOGG Y-DNA Haplogroup E Tree, [5] and subsequent published research.

See also

Genetics

Y-DNA E subclades

Y-DNA backbone tree

Notes

  1. ↑ E-M329 is formerly known as E1b1c and E1b1*
  2. ↑ E-M2 is formerly known as E3a and E1b1a
  3. ↑ E-M329 is formerly known as E1b1c.

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References

  1. 1 2 "E-V38 YTree".
  2. 1 2 3 4 5 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. Bibcode:2011PLoSO...616073T. doi: 10.1371/journal.pone.0016073 . PMC   3017091 . PMID   21253605.
  3. 1 2 Shriner, Daniel; Rotimi, Charles (2018). "Whole-Genome-Sequence-Based Haplotypes Reveal Single Origin of the Sickle Allele during the Holocene Wet Phase". American Journal of Human Genetics. 102 (4). Am J Hum Genet: 547–556. doi:10.1016/j.ajhg.2018.02.003. PMC   5985360 . PMID   29526279.
  4. ↑ "E-V43 YTree".
  5. 1 2 International Society of Genetic Genealogy (3 February 2010). "Y-DNA Haplogroup E and its Subclades – 2010" . Retrieved 17 December 2010.
  6. ↑ Adams, Jonathan. "Africa During the Last 150,000 Years". Archived from the original on 1 May 2006. Retrieved 26 January 2011.
  7. ↑ 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. S2CID   9951365.
  8. ↑ 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.
  9. ↑ 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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  10. ↑ 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. S2CID   9441236.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  11. ↑ Gad, Yehia Z; et al. (2021). "Insights from ancient DNA analysis of Egyptian human mummies: clues to disease and kinship". Human Molecular Genetics. 30 (R1): R24–R28. doi: 10.1093/hmg/ddaa223 . ISSN   0964-6906. OCLC   8681412353. PMID   33059357. S2CID   222824170.
  12. ↑ Peyroteo-Stjerna, Rita; et al. (21 February 2022). "Multidisciplinary investigation reveals an individual of West African origin buried in a Portuguese Mesolithic shell midden four centuries ago". Journal of Archaeological Science: Reports. 42: 103370. doi: 10.1016/j.jasrep.2022.103370 . OCLC   1337974923. S2CID   247045502.
  13. ↑ 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.
  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. ↑ 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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