Haplogroup E-M215 Explained

Origin-Place:East Africa
Origin-Date:47,500—22,400 BP[1]
Tmrca:34,800 BP[2]
Ancestor:E-P2
Mutations:M215
Caption:Geographic distribution of the haplogroup E1b1b

E-M215 or E1b1b, formerly known as E3b, is a major 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 moderate frequencies in the Middle East, Europe, and Southern Africa. E-M281 occurs at a low frequency in Ethiopia.

Origins

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

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 analyzed 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.[4] 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.[5] 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%).[6]

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*).[7]

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). E-M281 has been found in Ethiopia.

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.In 2013, Di Cristofaro et al. (2013) found one individual in Khorasan, North-East Iran to be positive for M215 but negative for M35.[8]

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. Amongst populations with an Afro-Asiatic speaking history, a significant proportion of Jewish male lineages are E-M35. Haplogroup E-M35, which accounts for approximately 18% to 20% of Ashkenazi and 8.6% to 30% of Sephardi Y-chromosomes, appears to be one of the major founding lineages of the Jewish population.[9]

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, whereas the haplogroups E*, E3*, K*(xP),[10] and J*(xJ2) were significantly more frequent among the elite endurance athletes.[10]

Subclades

E-M35

See main article: Haplogroup 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

See 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

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. 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. 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 .

Phylogenetic trees

Cladogram with the main subclades:

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)

See also

Y-DNA backbone tree

Bibliography

Sources for conversion tables

Notes and References

  1. Haber M, Jones AL, Connel BA, Asan, Arciero E, Huanming Y, Thomas MG, Xue Y, Tyler-Smith C . A Rare Deep-Rooting D0 African Y-chromosomal Haplogroup and its Implications for the Expansion of Modern Humans Out of Africa . Genetics . 1421–1428 . June 2019 . 31196864 . 10.1534/genetics.119.302368 . free . 6707464 . 212 . 4 .
  2. Web site: E-M215 YTree.
  3. For E-M215 reduced their estimate to 22,400 from 25,600 in, re-calibrating the same data.
  4. Schuenemann, Verena J.. etal. Ancient Egyptian mummy genomes suggest an increase of Sub-Saharan African ancestry in post-Roman periods. Nature Communications. 2017. 8. 15694. 28556824. 10.1038/ncomms15694. 5459999. 2017NatCo...815694S.
  5. Fregel. etal. 2018. Ancient genomes from North Africa evidence prehistoric migrations to the Maghreb from both the Levant and Europe. 10.1101/191569.
  6. Rodrı́guez-Varela. etal. Genomic Analyses of Pre-European Conquest Human Remains from the Canary Islands Reveal Close Affinity to Modern North Africans. Current Biology. 2017. 27. 1–7. 3396–3402.e5. 10.1016/j.cub.2017.09.059. 29107554. free. 2017CBio...27E3396R . 2164/13526. free.
  7. 10.1126/science.aar8380 . Pleistocene North African genomes link Near Eastern and sub-Saharan African human populations . Science . 4 May 2018 . 360 . 6388 . 548–552 . 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 . 29545507 . 2018Sci...360..548V . 206666517 . free .
  8. Di Cristofaro . Julie . etal . Afghan Hindu Kush: Where Eurasian Sub-Continent Gene Flows Converge . PLOS ONE . October 18, 2013 . 8 . 10 . e76748 . 10.1371/journal.pone.0076748 . 24204668 . 1932-6203 . 3799995 . 5534533323 . 2013PLoSO...876748D . 16455960 . free .
  9. "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."
  10. Moran, Colin N.. etal. Y chromosome haplogroups of elite Ethiopian endurance runners. Human Genetics. 2004. 115. 6. 492–7. 6 February 2017. 10.1007/s00439-004-1202-y. 15503146. 13960753.
  11. ISOGG 2015

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