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Haplogroup E-V38

From Wikipedia, the free encyclopedia
(Redirected fromHaplogroup E-V38 (Y-DNA))
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 asE1b1a-V38, is a majorhuman Y-chromosome DNA haplogroup. E-V38 is primarily distributed inAfrica. E-V38 has two basal branches,E-M329 andE-M2.[2][a][b] E-M329 is a subclade mostly found inEast Africa.[2] E-M2 is the predominant subclade inWest Africa,Central Africa,Southern Africa, and the region ofAfrican Great Lakes; it also occurs at moderate frequencies inNorth Africa,West Asia, andSouthern Europe.

Origins

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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 theWest African-affiliated E-M2 and theNortheast African-affiliated E-M329 with an earlier common ancestor who, like E-P2, may have also originated inEast Africa.[2] The downstream SNP E-M180 may have originated in thehumid south-centralSaharan savanna/grassland ofNorth 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 inCentral,Southern, andSoutheasternAfrica, replacing the previoushaplogroup frequencies (haplogroupsA andB-M60) in these areas with the now dominantE1b1a1 lineages. Traces of earlier inhabitants, however, can be observed today in these regions via the presence of the Y DNA haplogroupsA1a, A1b, A2, A3, andB-M60 that are common in certain populations, such as theMbuti andKhoisan.[8][9][10] Shriner et al. (2018) similarly suggests that haplogroup E1b1a-V38 traversed across theGreen Sahara fromeast to west around 19,000 years ago, where E1b1a1-M2 may have subsequently originated inWest Africa orCentral Africa. Shriner et al. (2018) also traces this movement viasickle cell mutation, which likely originated during the Green Sahara period.[3]

Ancient DNA

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Gad et al. (2021) indicates that theancient Egyptian mummies ofRamesses III and Unknown Man E, possiblyPentawere, carried haplogroup E1b1a,[11] which appears at its highest frequency rates inCentral Africa at ~60% and inWest Africa at ~80%.[12]

During the18th Dynasty ofAncient Egypt, somemummies from theAmarna Period carried haplogroups E1b1a andL.[12][13]

At Cabeço da Amoreira, inPortugal, anenslavedWest African man, who may have been from theSenegambian coastal region ofGambia,Mauritania, orSenegal, and carried haplogroups E1b1a andL3b1a, was buried amongshell middens between the 16th century CE and the 18th century CE.[14]

Distribution

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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.[15]

Subclades

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E-M2

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Main article: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

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Main article:Haplogroup E-M329

E1b1a2 is defined by theSNP mutation M329.[c] E-M329 is mostly found inEast Africa.[2] E-M329 is also frequent inSouthwestern Ethiopia, especially amongOmotic-speaking populations.[16][17]

Phylogenetics

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Phylogenetic history

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Main article: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 2006ISOGG 2007ISOGG 2008ISOGG 2009ISOGG 2010ISOGG 2011ISOGG 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

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

Phylogenetic trees

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This phylogenetic tree of haplogroup subclades is based on the Y-Chromosome Consortium (YCC) 2008 Tree,[18] 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

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Wikiquote has quotations related toHaplogroup E-V38.

Genetics

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Y-DNA E subclades

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Y-DNA backbone tree

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This article needs to beupdated. Please help update this article to reflect recent events or newly available information.(February 2021)
Footnotes
  1. ^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.
  2. ^International Society of Genetic Genealogy (ISOGG; 2015),Y-DNA Haplogroup Tree 2015. (Access date: 1 February 2015.)
  3. ^Haplogroup A0-T is also known as A-L1085 (and previously as A0'1'2'3'4).
  4. ^Haplogroup A1 is also known as A1'2'3'4.
  5. ^ F-Y27277, sometimes known as F2'4, is both the parent clade of F2 and F4 and a child of F-M89.
  6. ^Haplogroup LT (L298/P326) is also known as Haplogroup K1.
  7. ^Between 2002 and 2008,Haplogroup T-M184 was known as "Haplogroup K2". That name has since been re-assigned toK-M526, the sibling of Haplogroup LT.
  8. ^ Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS.
  9. ^ Haplogroup K2b1 (P397/P399) is also known as Haplogroup MS, but has a broader and more complex internal structure.
  10. ^ Haplogroup P (P295) is also klnown as K2b2.
  11. ^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: Poznikop. 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)
  12. ^ Haplogroup M, as of 2017, is also known as K2b1b. (Previously the name Haplogroup M was assigned to K2b1d.)
  13. ^ Haplogroup S, as of 2017, is also known as K2b1a. (Previously the name Haplogroup S was assigned to K2b1a4.)

Notes

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  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

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  1. ^ab"E-V38 YTree".
  2. ^abcdeTrombetta, 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.Haplogroup E1b1 now contains two basal branches, E-V38 (E1b1a) and E-M215 (E1b1b), with V38/V100 joining the two previously separated lineages E-M2 (former E1b1a) and E-M329 (former E1b1c). Each of these two lineages has a peculiar geographic distribution. E-M2 is the most common haplogroup in sub-Saharan Africa, with frequency peaks in western (about 80%) and central Africa (about 60%). The same haplogroup is also present in North Africa, although at a lower frequency (usually below 10%) [9]–[11]. Haplogroup E-M329, on the other hand, was observed almost exclusively in eastern Africa [10], [12 and R.S. unpublished data], where E-M2 is virtually absent. The second basal branch of E1b1, E-M215, has a broad geographic distribution from southern Europe to northern and eastern Africa where it has been proposed to have originated [8]. The new topology here reported has important implications as to the origins of the haplogroup E1b1. Using the principle of the phylogeographic parsimony, the resolution of the E1b1b trifurcation in favor of a common ancestor of E-M2 and E-M329 strongly supports the hypothesis that haplogroup E1b1 originated in eastern Africa, as previously suggested [10], and that chromosomes E-M2, so frequently observed in sub-Saharan Africa, trace their descent to a common ancestor present in eastern Africa.
  3. ^abShriner, 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. ^abInternational Society of Genetic Genealogy (3 February 2010)."Y-DNA Haplogroup E and its Subclades – 2010". Retrieved17 December 2010.
  6. ^Adams, Jonathan."Africa During the Last 150,000 Years". Archived fromthe original on 1 May 2006. Retrieved26 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. ^abGad, Yehia Z.; et al. (February 2020)."Maternal and paternal lineages in King Tutankhamun's family"(PDF).Guardian of Ancient Egypt: Essays in Honor of Zahi Hawass. Czech Institute of Egyptology. pp. 9,12–13.ISBN 978-80-7308-978-8.OCLC 1246489934.
  13. ^Ehret, Christopher; et al. (June 9, 2025)."Afrasian Archaeolinguistics".The Oxford Handbook of Archaeology and Language. OUP Oxford. p. 567.ISBN 978-0-19-269455-3.OCLC 10932815162.
  14. ^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.
  15. ^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.
  16. ^Plaster et al. Y-DNA E subclades
  17. ^C.A., Plaster (2011-09-28)."Variation in Y chromosome, mitochondrial DNA and labels of identity on Ethiopia".discovery.ucl.ac.uk. Retrieved2018-06-27.
  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.

Sources for conversion tables

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External links

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