Haplogroup E-V38

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. 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. 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.

Ancient DNA

Gad et al. (2021) indicates that the ancient Egyptian mummies of Ramesses III and Unknown Man E, possibly Pentawere, carried haplogroup E1b1a, which appears at its highest frequency rates in Central Africa at ~60% and in West Africa at ~80%.

During the 18th Dynasty of Ancient Egypt, some mummies from the Amarna Period carried haplogroups E1b1a and L.

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.

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.

Subclades

E-M2

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

Main article: Haplogroup E-M329

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

Phylogenetics

Phylogenetic history

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.

Research publications

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

• α and
• β
• γ
• δ
• ε
• ζ
• η

Phylogenetic trees

This phylogenetic tree of haplogroup subclades is based on the Y-Chromosome Consortium (YCC) 2008 Tree, the ISOGG Y-DNA Haplogroup E Tree, 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)

Notes

References

Sources for conversion tables

References

1. (2018). "Whole-Genome-Sequence-Based Haplotypes Reveal Single Origin of the Sickle Allele during the Holocene Wet Phase". Am J Hum Genet.
2. "E-V38 YTree".
3. Trombetta, Beniamino. (6 January 2011). "A New Topology of the Human Y Chromosome Haplogroup E1b1 (E-P2) Revealed through the Use of Newly Characterized Binary Polymorphisms". PLOS ONE.
4. Rosa, Alexandra. (27 July 2007). "Y-chromosomal diversity in the population of Guinea-Bissau: a multiethnic perspective". BMC Evolutionary Biology.
5. Wood, Elizabeth T. (27 Apr 2005). "Contrasting patterns of Y chromosome and mtDNA variation in Africa: evidence for sex-biased demographic processes". European Journal of Human Genetics.
6. Underhill, P.A. (Jan 2001). "The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations". Annals of Human Genetics.
7. (2021). "Insights from ancient DNA analysis of Egyptian human mummies: clues to disease and kinship". Human Molecular Genetics.
8. (February 2020). "Guardian of Ancient Egypt: Essays in Honor of Zahi Hawass". Czech Institute of Egyptology.
9. (June 9, 2025). "The Oxford Handbook of Archaeology and Language". OUP Oxford.
10. (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.
11. Luis, J.R.. (March 2004). "The Levant versus the Horn of Africa: Evidence for Bidirectional Corridors of Human Migrations". The American Journal of Human Genetics.
12. [https://docs.google.com/spreadsheets/d/1hHEJ6z1_QPwYRyPAgYLEb_dt5fRBITrKvI0ezByNvTk/edit#gid=671929667 Plaster et al. Y-DNA E subclades]
13. C.A., Plaster. (2011-09-28). "Variation in Y chromosome, mitochondrial DNA and labels of identity on Ethiopia".
14. Karafet, Tatiana M.. (May 2008). "New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree". Genome Research.
15. International Society of Genetic Genealogy. (3 February 2010). "Y-DNA Haplogroup E and its Subclades – 2010".