Biology:Haplogroup E-V38

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Short description: Human Y-chromosome DNA haplogroup
Haplogroup E-V38 (former E3a / E1b1a)
Possible time of origin41,400 years BP[1]
Coalescence age39,200 years BP[1]
Possible place of originEast Africa[2][3]
AncestorE-P2
DescendantsE-M2, E-M329
Defining mutationsL222.1, V38, V100

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.[2][lower-alpha 1][lower-alpha 2] 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 some parts of North Africa, West Asia, and Southern Europe.

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 migrated 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 migration 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

Main page: Biology:Haplogroup 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

Main page: Biology:Haplogroup E-M329

E1b1a2 is defined by the SNP mutation M329.[lower-alpha 3] 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

Main page: Biology:Conversion table for Y chromosome haplogroups

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.


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.

  • 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)

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.

References

  1. ↑ 1.0 1.1 "E-V38 YTree". https://www.yfull.com/tree/E-V38/. 
  2. ↑ 2.0 2.1 2.2 2.3 2.4 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. PMID 21253605. Bibcode: 2011PLoSO...616073T. 
  3. ↑ 3.0 3.1 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 (Am J Hum Genet) 102 (4): 547–556. doi:10.1016/j.ajhg.2018.02.003. PMID 29526279. 
  4. ↑ "E-V43 YTree". https://www.yfull.com/tree/E-V43/. 
  5. ↑ 5.0 5.1 International Society of Genetic Genealogy (3 February 2010). "Y-DNA Haplogroup E and its Subclades – 2010". http://www.isogg.org/tree/ISOGG_HapgrpE.html. 
  6. ↑ Adams, Jonathan. "Africa During the Last 150,000 Years". http://www.esd.ornl.gov/projects/qen/nercAFRICA.html. 
  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. 
  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. 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. 
  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. 
  11. ↑ Gad, Yehia Z (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. 
  12. ↑ Peyroteo-Stjerna, Rita (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. 
  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. 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". http://discovery.ucl.ac.uk/1331901/. 
  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. PMID 18385274. PMC 2336805. http://genome.cshlp.org/content/early/2008/04/02/gr.7172008.short. 

Sources for conversion tables

External links



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