Haplogroup E-M215

E-M215, also known as E1b1b-M215, is a human Y-chromosome DNA haplogroup. E-M215 has two basal branches, E-M35 and E-M281. E-M35 is primarily distributed in North Africa and the Horn of Africa, and occurs at lower frequencies in the Middle East, Europe, and Southern Africa. E-M281 occurs at a low frequency in Ethiopia.

Haplogroup E-M215 (former E3b / E1b1b)
Possible time of origin47,500 - 22,400 BP[1][2][3]
Coalescence age34,800 BP[4]
Possible place of originEast Africa[5][1]
AncestorE-P2
DescendantsE-M35, E-M281
Defining mutationsM215

Origins

E1b1b1 origins map
E1b1b1 origins map

The origins of E-M215 were dated by Cruciani in 2007 to about 22,400 years ago in East Africa.[3][Note 1]

Ancient DNA

According to Lazaridis et al. (2016), Natufian skeletal remains from the ancient Levant predominantly carried the Y-DNA haplogroup E1b1b. Of the five Natufian specimens analysed for paternal lineages, three belonged to the E1b1b1b2(xE1b1b1b2a,E1b1b1b2b), E1b1(xE1b1a1,E1b1b1b1) and E1b1b1b2(xE1b1b1b2a,E1b1b1b2b) subclades (60%). Haplogroup E1b1b was also found at moderate frequencies among fossils from the ensuing Pre-Pottery Neolithic B culture, with the E1b1b1 and E1b1b1b2(xE1b1b1b2a,E1b1b1b2b) subclades observed in two of seven PPNB specimens (~29%). The scientists suggest that the Levantine early farmers may have spread southward into East Africa, bringing along Western Eurasian and Basal Eurasian ancestral components separate from that which would arrive later in North Africa.

Additionally, haplogroup E1b1b1 has been found in an ancient Egyptian mummy excavated at the Abusir el-Meleq archaeological site in Middle Egypt, which dates from a period between the late New Kingdom and the Roman era.[6] Fossils at the Iberomaurusian site of Ifri N'Amr Ou Moussa in Morocco, which have been dated to around 5,000 BCE, also carried haplotypes related to the E1b1b1b1a (E-M81) subclade. These ancient individuals bore an autochthonous Maghrebi genomic component that peaks among modern North Africans, indicating that they were ancestral to populations in the area.[7] The E1b1b haplogroup has likewise been observed in ancient Guanche fossils excavated in Gran Canaria and Tenerife on the Canary Islands, which have been radiocarbon-dated to between the 7th and 11th centuries CE. The clade-bearing individuals that were analysed for paternal DNA were inhumed at the Tenerife site, with all of these specimens found to belong to the E1b1b1b1a1 or E-M183 subclade (3/3; 100%).[8]

Loosdrecht et al. (2018) analysed genome-wide data from seven ancient Iberomaurusian individuals from the Grotte des Pigeons near Taforalt in eastern Morocco. The fossils were directly dated to between 15,100 and 13,900 calibrated years before present. The scientists found that five male specimens with sufficient nuclear DNA preservation belonged to the E1b1b1a1 (M78) subclade, with one skeleton bearing the E1b1b1a1b1 parent lineage to E-V13, another male specimen belonged to E1b1b (M215*).[9]

Distribution

In Africa, E-M215 is distributed in highest frequencies in the Horn of Africa and North Africa, specifically in the countries Somalia and Morocco, whence it has in recent millennia expanded as far south as South Africa, and northwards into Western Asia and Europe (especially the Mediterranean and the Balkans).[10][11][12][13] E-M281 has been found in Ethiopia.[11]

Almost all E-M215 men are also in E-M35. In 2004, M215 was found to be older than M35 when individuals were found who have the M215 mutation, but do not have M35 mutation.[10] In 2013, Di Cristofaro et al. (2013) found one individual in Khorasan, North-East Iran to be positive for M215 but negative for M35.[14]

Geographic distribution of Y-chromosome haplogroups of select African, Middle Eastern and European populations.[15]

E-M215 and E-M35 are quite common among Afroasiatic speakers. The linguistic group and carriers of E-M35 lineage have a high probability to have arisen and dispersed together from the Afroasiatic Urheimat.[16] Amongst populations with an Afro-Asiatic speaking history, a significant proportion of Jewish male lineages are E-M35.[17] Haplogroup E-M35, which accounts for approximately 18%[11] to 20%[18][19] of Ashkenazi and 8.6%[20] to 30%[11] of Sephardi Y-chromosomes, appears to be one of the major founding lineages of the Jewish population.[21][Note 2]

E-M215 association with endurance

Moran et al. (2004) observed that among Y-DNA (paternal) clades borne by elite endurance athletes in Ethiopia, the haplogroup E3b1 was negatively correlated with elite athletic endurance performance,[22] whereas the haplogroups E*, E3*, K*(xP),[22] and J*(xJ2) were significantly more frequent among the elite endurance athletes.[22]

Subclades

E-M35

Haplogroup E-M35 is a subclade of E-M215.

E-M281

Haplogroup E-M281 is a subclade of E-M215.

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.

Discussion

E-M215 and E1b1b1 are the currently accepted names found in the proposals of the Y Chromosome Consortium (YCC), for the clades defined by mutation M215 and M35 respectively, which can also be referred to as E-M215 and E-M35.[23] The nomenclature E3b (E-M215) and E3b1 (E-M35) respectively were the YCC defined names used to designate the same haplogroups in older literature with E-M35 branching as a separate subclade of E-M215 in 2004.[10] Prior to 2002 these haplogroups were not designated in a consistent way, and nor was their relationship to other related clades within haplogroup E and haplogroup DE. But in non-standard or older terminologies, E-M215 is for example approximately the same as "haplotype V", still used in publications such as Gérard et al. (2006).[24]

Phylogenetic trees

Cladogram with the main subclades:

E1b1b (M215) 
E1b1b1 (M35)
E1b1b1a (V68)
E-M78

E-V12

E-V65

E-V13

E-V22

E-V2729

E1b1b1b (Z827)

E-M81

E-M123

E1b1b2 (M281)

The following phylogenetic tree is based on the YCC 2008 tree and subsequent published research as summarized by ISOGG. It includes all known subclades as of June 2015 (Trombetta et al. 2015)[25][23][24]

  • E-M215 (E1b1b)
    • E-M215*. Rare or non-existent.
    • E-M35 (E1b1b1)
      • E-V68 (E1b1b1a)
        • E-V2009. Found in individuals in Sardinia and Morocco.
        • E-M78 (E1b1b1a1). North Africa, Horn of Africa, West Asia, Sicily. (Formerly "E1b1b1a".)
          • E-M78*
          • E-V1477. Found in Tunisian Jews.
          • E-V1083.
            • E-V1083*. Found only in Eritrea (1.1%) and Sardinia (0.3%).
            • E-V13
            • E-V22
          • E-V1129
            • E-V12
              • E-V12*
              • E-V32
            • E-V264
              • E-V259. Found in North Cameroon.
              • E-V65
                • E-CTS194
      • E-Z827 (E1b1b1b)[26]
        • E-V257/L19 (L19, V257) – E1b1b1b1[26]
          • E-PF2431
          • E-M81 (M81)
            • E-PF2546
              • E-PF2546*
              • E-CTS12227
                • E-MZ11
                  • E-MZ12
              • E-A929
                • E-Z5009
                  • E-Z5009*
                  • E-Z5010
                  • E-Z5013
                    • E-Z5013*
                    • E-A1152
                • E-A2227
                  • E-A428
                  • E-MZ16
                • E-PF6794
                  • E-PF6794*
                  • E-PF6789
                    • E-MZ21
                    • E-MZ23
                    • E-MZ80
                • E-A930
                • E-Z2198/E-MZ46
                  • E-A601
                  • E-L351
        • E-Z830 (Z830) – E1b1b1b2[26]
          • E-M123 (M123)
            • E-M34 (M34)
              • E-M84 (M84)
                • E-M136 (M136)
              • E-M290 (M290)
              • E-V23 (V23)
              • E-L791 (L791,L792)
          • E-V1515. E-V1515 and its subclades are mainly restricted to eastern Africa.
            • E-V1515*
            • E-V1486
              • E-V1486*
              • E-V2881
                • E-V2881*
                • E-V1792
                • E-V92
              • E-M293 (M293)
                • E-M293*
                • E-P72 (P72)
                • E-V3065*
            • E-V1700
              • E-V42 (V42)
              • E-V1785
                • E-V1785*
                • E-V6 (V6)
      • E-V16/E-M281 (E1b1b2). Rare. Found in individuals in Ethiopia, Yemen and Saudi Arabia.

See also

Genetics

Y-DNA E subclades

Y-DNA backbone tree

Notes

  1. Cruciani et al. (2004): "Several observations point to eastern Africa as the homeland for haplogroup E3b—that is, it had (1) the highest number of different E3b clades (table 1), (2) a high frequency of this haplogroup and a high microsatellite diversity, and, finally, (3) the exclusive presence of the undifferentiated E3b* paragroup." As mentioned above, "E3b" is the old name for E-M215. Semino et al. (2004): "This inference is further supported by the presence of additional Hg E lineal diversification and by the highest frequency of E-P2* and E-M35* in the same region. The distribution of E-P2* appears limited to eastern African peoples. The E-M35* lineage shows its highest frequency (19.2%) in the Ethiopian Oromo but with a wider distribution range than E-P2*." For E-M215 Cruciani et al. (2007) reduced their estimate to 22,400 from 25,600 in Cruciani et al. (2004), re-calibrating the same data.
  2. "Paragroup E-M35 * and haplogroup J-12f2a* fit the criteria for major AJ founding lineages because they are widespread both in AJ populations and in Near Eastern populations, and occur at much lower frequencies in European non-Jewish populations." Behar et al. (2004)

References

  1. Trombetta 2015.
  2. Haber M, Jones AL, Connel BA, Asan, Arciero E, Huanming Y, Thomas MG, Xue Y, Tyler-Smith C (June 2019). "A Rare Deep-Rooting D0 African Y-chromosomal Haplogroup and its Implications for the Expansion of Modern Humans Out of Africa". Genetics. 212 (4): 1421–1428. doi:10.1534/genetics.119.302368. PMC 6707464. PMID 31196864.
  3. Cruciani et al. (2007)
  4. "E-M215 YTree".
  5. Cruciani et al. (2004).
  6. Schuenemann, Verena J.; et al. (2017). "Ancient Egyptian mummy genomes suggest an increase of Sub-Saharan African ancestry in post-Roman periods". Nature Communications. 8: 15694. Bibcode:2017NatCo...815694S. doi:10.1038/ncomms15694. PMC 5459999. PMID 28556824.
  7. Fregel; et al. (2018). "Ancient genomes from North Africa evidence prehistoric migrations to the Maghreb from both the Levant and Europe". bioRxiv 10.1101/191569.
  8. Rodrı́guez-Varela; et al. (2017). "Genomic Analyses of Pre-European Conquest Human Remains from the Canary Islands Reveal Close Affinity to Modern North Africans". Current Biology. 27 (1–7): 3396–3402.e5. doi:10.1016/j.cub.2017.09.059. PMID 29107554.
  9. Van De Loosdrecht, Marieke; Bouzouggar, Abdeljalil; Humphrey, Louise; Posth, Cosimo; Barton, Nick; Aximu-Petri, Ayinuer; Nickel, Birgit; Nagel, Sarah; Talbi, El Hassan; El Hajraoui, Mohammed Abdeljalil; Amzazi, Saaïd; Hublin, Jean-Jacques; Pääbo, Svante; Schiffels, Stephan; Meyer, Matthias; Haak, Wolfgang; Jeong, Choongwon; Krause, Johannes (4 May 2018). "Pleistocene North African genomes link Near Eastern and sub-Saharan African human populations". Science. 360 (6388): 548–552. Bibcode:2018Sci...360..548V. doi:10.1126/science.aar8380. PMID 29545507. S2CID 206666517.
  10. Cruciani et al. (2004)
  11. Semino et al. (2004)
  12. Rosser et al. (2000)
  13. Firasat et al. (2006)
  14. Di Cristofaro, Julie; et al. (October 18, 2013). "Afghan Hindu Kush: Where Eurasian Sub-Continent Gene Flows Converge". PLOS One. 8 (10): e76748. Bibcode:2013PLoSO...876748D. doi:10.1371/journal.pone.0076748. ISSN 1932-6203. OCLC 5534533323. PMC 3799995. PMID 24204668. S2CID 16455960.
  15. Badro, Danielle A.; Douaihy, Bouchra; Haber, Marc; Youhanna, Sonia C.; Salloum, Angélique; Ghassibe-Sabbagh, Michella; Johnsrud, Brian; Khazen, Georges; Matisoo-Smith, Elizabeth; Soria-Hernanz, David F.; Wells, R. Spencer; Tyler-Smith, Chris; Platt, Daniel E.; Zalloua, Pierre A.; Consortium, The Genographic (2013-01-30). "Y-Chromosome and mtDNA Genetics Reveal Significant Contrasts in Affinities of Modern Middle Eastern Populations with European and African Populations". PLOS ONE. 8 (1): e54616. doi:10.1371/journal.pone.0054616. ISSN 1932-6203. PMC 3559847. PMID 23382925.
  16. Ehret, Keita & Newman (2004); Keita & Boyce (2005); Keita (2008).
  17. Behar et al. (2003)
  18. Behar et al. (2004)
  19. Shen et al. (2004)
  20. Adams et al. (2008)
  21. Nebel et al. (2001)
  22. Moran, Colin N.; et al. (2004). "Y chromosome haplogroups of elite Ethiopian endurance runners". Human Genetics. 115 (6): 492–7. doi:10.1007/s00439-004-1202-y. PMID 15503146. S2CID 13960753. Retrieved 6 February 2017.
  23. Karafet et al. (2008)
  24. Y Chromosome Consortium "YCC" (2002)
  25. ISOGG (2011)
  26. ISOGG 2015

Bibliography

Sources for conversion tables

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