The origins of E-M215 were dated by Cruciani in 2007 to about 22,400 years ago in East Africa.[3][Note 1]
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.[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]
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]
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.[15] Amongst populations with an Afro-Asiatic speaking history, a significant proportion of Jewish male lineages are E-M35.[16] Haplogroup E-M35, which accounts for approximately 18%[11] to 20%[17][18] of Ashkenazi and 8.6%[19] to 30%[11] of Sephardi Y-chromosomes, appears to be one of the major founding lineages of the Jewish population.[20][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,[21] whereas the haplogroups E*, E3*, K*(xP),[21] and J*(xJ2) were significantly more frequent among the elite endurance athletes.[21]
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.
More information YCC 2002/2008 (Shorthand), (α) ...
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.[22] 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).[23]
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)[24][22][23]
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.
"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)
Fregel; etal. (2018). "Ancient genomes from North Africa evidence prehistoric migrations to the Maghreb from both the Levant and Europe". bioRxiv10.1101/191569.
Adams, Susan M; Bosch, Elena; Balaresque, Patricia L.; Ballereau, Stéphane J.; Lee, Andrew C.; Arroyo, Eduardo; López-Parra, Ana M.; Aler, Mercedes; etal. (2008), "The Genetic Legacy of Religious Diversity and Intolerance: Paternal Lineages of Christians, Jews, and Muslims in the Iberian Peninsula", The American Journal of Human Genetics, 83 (6): 725–36, doi:10.1016/j.ajhg.2008.11.007, PMC2668061, PMID19061982
Alvarez; Santos, Cristina; Montiel, Rafael; Caeiro, Blazquez; Baali, Abdellatif; Dugoujon, Jean-Michel; Aluja, Maria Pilar (2009), "Y-chromosome variation in South Iberia: Insights into the North African contribution", American Journal of Human Biology, 21 (3): 407–409, doi:10.1002/ajhb.20888, PMID19213004, S2CID7041905
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. (2013), "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): e54616, Bibcode:2013PLoSO...854616B, doi:10.1371/journal.pone.0054616, PMC3559847, PMID23382925
Battaglia, Vincenza; Fornarino, Simona; Al-Zahery, Nadia; Olivieri, Anna; Pala, Maria; Myres, Natalie M; King, Roy J; Rootsi, Siiri; etal. (2008), "Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe", European Journal of Human Genetics, 17 (6): 820–830, doi:10.1038/ejhg.2008.249, PMC2947100, PMID19107149
Bosch, Elena; Calafell, Francesc; Comas, David; Oefner, Peter J.; Underhill, Peter A.; Bertranpetit, Jaume (2001), "High-resolution analysis of human Y-chromosome variation shows a sharp discontinuity and limited gene flow between north-western Africa and the Iberian Peninsula", Am J Hum Genet, 68 (4): 1019–1029, doi:10.1086/319521, PMC1275654, PMID11254456
Cadenas; Zhivotovsky, Lev A; Cavalli-Sforza, Luca L; Underhill, Peter A; Herrera, Rene J (2007), "Y-chromosome diversity characterizes the Gulf of Oman", European Journal of Human Genetics, 16 (3): 1–13, doi:10.1038/sj.ejhg.5201934, PMID17928816
Caratti; Gino, S.; Torre, C.; Robino, C. (2009), "Subtyping of Y-chromosomal haplogroup E-M78 (E1b1b1a) by SNP assay and its forensic application", International Journal of Legal Medicine, 123 (4): 357–360, doi:10.1007/s00414-009-0350-y, PMID19430804, S2CID5657112
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Contu, Daniela; Morelli, Daniela; Santoni, Federico; Foster, Jamie W.; Francalacci, Paolo; Cucca, Francesco (2008), "Y-Chromosome Based Evidence for Pre-Neolithic Origin of the Genetically Homogeneous but Diverse Sardinian Population: Inference for Association Scans", PLOS ONE, 3 (1): e1430, Bibcode:2008PLoSO...3.1430C, doi:10.1371/journal.pone.0001430, PMC2174525, PMID18183308
Cruciani, Fulvio; Santolamazza, Piero; Shen, Peidong; MacAulay, Vincent; Moral, Pedro; Olckers, Antonel; Modiano, David; Holmes, Susan (2002), "A Back Migration from Asia to Sub-Saharan Africa Is Supported by High-Resolution Analysis of Human Y-Chromosome Haplotypes", American Journal of Human Genetics, 70 (5): 1197–1214, doi:10.1086/340257, PMC447595, PMID11910562
Cruciani; La Fratta; Torroni; Underhill; Scozzari (2006), "Molecular Dissection of the Y Chromosome Haplogroup E-M78 (E3b1a): A Posteriori Evaluation of a Microsatellite-Network-Based Approach Through Six New Biallelic Markers", Human Mutation, 27 (8): 831–2, doi:10.1002/humu.9445, PMID16835895, S2CID26886757
Di Gaetano; Cerutti, Francesca; Crobu, Carlo; Robino (2009), "Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome", European Journal of Human Genetics, 17 (1): 91–99, doi:10.1038/ejhg.2008.120, PMC2985948, PMID18685561
El-Sibai, Mirvat; Platt, Daniel E.; Haber, Marc; Xue, Yali; Youhanna, Sonia C.; Wells, R. Spencer; Izaabel, Hassan; Sanyoura, May F.; etal. (2009), "Geographical Structure of the Y-chromosomal Genetic Landscape of the Levant: A coastal-inland contrast", Annals of Human Genetics, 73 (6): 568–581, doi:10.1111/j.1469-1809.2009.00538.x, PMC3312577, PMID19686289
Firasat; Khaliq, Shagufta; Mohyuddin, Aisha; Papaioannou, Myrto; Tyler-Smith, Chris; Underhill, Peter A; Ayub, Qasim (2006), "Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan", European Journal of Human Genetics, 15 (1): 121–126, doi:10.1038/sj.ejhg.5201726, PMC2588664, PMID17047675
Flores, Carlos; Maca-Meyer, Nicole; González, Ana M; Oefner, Peter J; Shen, Peidong; Pérez, Jose A; Rojas, Antonio; Larruga, Jose M; Underhill, Peter A (2004), "Reduced genetic structure of the Iberian peninsula revealed by Y-chromosome analysis: implications for population demography", European Journal of Human Genetics, 12 (10): 855–863, doi:10.1038/sj.ejhg.5201225, PMID15280900, S2CID16765118
Flores; Maca-Meyer, Nicole; Larruga, Jose M.; Cabrera, Vicente M.; Karadsheh, Naif; Gonzalez, Ana M. (2005), "Isolates in a corridor of migrations: a high-resolution analysis of Y-chromosome variation in Jordan", J Hum Genet, 50 (9): 435–441, doi:10.1007/s10038-005-0274-4, PMID16142507
Francalacci, P.; Morelli, L.; Underhill, P.A.; Lillie, A.S.; Passarino, G.; Useli, A.; Madeddu, R.; Paoli, G.; etal. (2003), "Peopling of Three Mediterranean Islands (Corsica, Sardinia, and Sicily) Inferred by Y-Chromosome Biallelic Variability", American Journal of Physical Anthropology, 121 (3): 270–279, doi:10.1002/ajpa.10265, PMID12772214
Fregel, Rosa; Gomes, Verónica; Gusmão, Leonor; González, Ana M; Cabrera, Vicente M; Amorim, António; Larruga, Jose M (2009), "Demographic history of Canary Islands male gene-pool: replacement of native lineages by European", BMC Evolutionary Biology, 9 (1): 181, Bibcode:2009BMCEE...9..181F, doi:10.1186/1471-2148-9-181, PMC2728732, PMID19650893
Jobling, M.A.; Tyler-Smith, C. (2000), "New uses for new haplotypes the human Y chromosome, disease and selection", Trends Genet., 16 (8): 356–362, doi:10.1016/S0168-9525(00)02057-6, PMID10904265
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Kujanova; Pereira; Fernandes; Pereira; Cerný (2009), "Near Eastern Neolithic Genetic Input in a Small Oasis of the Egyptian Western Desert", American Journal of Physical Anthropology, 140 (2): 336–346, doi:10.1002/ajpa.21078, PMID19425100
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Martinez, Laisel; Underhill, Peter A; Zhivotovsky, Lev A; Gayden, Tenzin; Moschonas, Nicholas K; Chow, Cheryl-Emiliane T; Conti, Simon; Mamolini, Elisabetta; Cavalli-Sforza, L Luca; Herrera, Rene (April 1, 2007), "Paleolithic Y-haplogroup heritage predominates in a Cretan highland plateau", European Journal of Human Genetics, 15 (4): 485–493, doi:10.1038/sj.ejhg.5201769, ISSN1018-4813, PMID17264870
Mendizabal, Isabel; Sandoval, Karla; Berniell-Lee, Gemma; Calafell, Francesc; Salas, Antonio; Martinez-Fuentes, Antonio; Comas, David (2008), "Genetic origin, admixture, and asymmetry in maternal and paternal human lineages in Cuba", BMC Evol. Biol., 8 (1): 213, Bibcode:2008BMCEE...8..213M, doi:10.1186/1471-2148-8-213, PMC2492877, PMID18644108
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