Haplogroup E-M215 (Y-DNA)

From Wikipedia, the free encyclopedia
Haplogroup E-M215
Possible time of origin47,500 - 22,400 years BP[1][2][3]
Possible place of originNorth Africa or the northern Horn of Africa[1][2]
AncestorE-P2
DescendantsE-M35, E-M281
Defining mutationsM215

E-M215, also known as E1b1b and formerly E3b, is a major human Y-chromosome DNA haplogroup. It is a division of the macro-haplogroup E-M96, which is defined by the single-nucleotide polymorphism (SNP) mutation M215.[4][5][6] In other words, it is one of the major patrilineages of humanity, linking from father-to-son back to a common male-line ancestor ("Y-chromosomal Adam"). It is a subject of discussion and study in genetics as well as genetic genealogy, archaeology, and historical linguistics.

The E-M215 haplogroup has two ancient branches that contain all the known modern E-M215, E-M35 and E-M281 subclades. Of the latter two E-M215 subhaplogroups, the only branch that has been confirmed in a native population outside of Ethiopia is E-M35. E-M35 in turn has two known branches, E-V68 and E-Z827, which contain by far the majority of all modern E-M215 subclade bearers. The E-V257 and E-V68 subclades each respectively their highest frequencies in North Africa and the Horn of Africa, and also at lower percentages in parts of the Middle East and Europe, and in isolated populations of Southern Africa.

Origins[]

E1b1b1 origins map

The origins of E-M215 were dated by Cruciani in 2007 to about 22,400 years ago in the Horn of Africa.[3][Note 1] E-M35 was dated by Batini in 2015 to between 15,400 and 20,500 years ago.[7] In June 2015, Trombetta et al. reported a previously unappreciated large difference in the age between haplogroup E-M215 (38.6 kya; 95% CI 31.4–45.9 kya) and its sub-haplogroup E-M35 (25.0 kya; 95% CI 20.0–30.0 kya) and estimated its origin to be in Northeast Africa, where the node separating the E-V38 and E-M215 branches occurs about 47,500 years ago (95% CI: 41.3–56.8 ka).[1]

The ancient dispersals of the major E-M35 lineages. The map shows the supposed earliest movements of E-M215 lineages as described in the most recent articles.[8][3][9][10]

All major sub-branches of E-M35 are thought to have originated in the same general area as the parent clade: in North Africa, the Horn of Africa, or nearby areas of the Near East. Some branches of E-M35 are assumed to have left Africa thousands of years ago, whereas others may have arrived from the Near East. For example, Underhill (2002) associates the spread of the haplogroup with the Neolithic Revolution, believing that the structure and regional pattern of E-M35 subclades potentially give "reagents with which to infer specific episodes of population histories associated with the Neolithic agricultural expansion". Battaglia et al. (2007) also estimate that E-M78 (called E1b1b1a1 in that paper) has been in Europe longer than 10,000 years. Accordingly, human remains excavated in a Spanish funeral cave dating from approximately 7,000 years ago were shown to be in this haplogroup.[11] Two more E-M78 have been found in the Neolithic Sopot and Lengyel cultures too.[12]

Concerning E-M35 in Europe within this scheme, Underhill & Kivisild (2007) have remarked that E-M215 seems to represent a late-Pleistocene migration from North Africa to Europe over the Sinai Peninsula in Egypt.[Note 2] While this proposal remains uncontested, it has more recently been proposed by Trombetta et al. (2011) that there is also evidence for additional migration of E-M215 carrying men directly from North Africa to southwestern Europe, via a maritime route (see below.)

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.[13] Fossils at the Iberomaurusian site of Ifri n'Amr or 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.[14] 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%).[15]

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*).[16]

Distribution[]

In Africa, E-M215 is distributed in highest frequencies in the Horn of Africa and North Africa, 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).[8][17][18][19]

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

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.[20][21][22] Amongst populations with an Afro-Asiatic speaking history, a significant proportion of Jewish male lineages are E-M35.[23] Haplogroup E-M35, which accounts for approximately 18%[17] to 20%[24][25] of Ashkenazi and 8.6%[26] to 30%[17] of Sephardi Y-chromosomes, appears to be one of the major founding lineages of the Jewish population.[27][Note 3]

The following table only includes sample populations with more than 1% E-M215 men with all known subclades as of June 2015. It contains the E-V1515 clade defined by Trombetta et al. 2015, and all the E1b1b subclades distributed below the Sahara (E-V42, E-M293, E-V92, E-V6), which were identified as E-M35 basal clades in a former phylogeny.[1]

Population N Region Language Total E-M215 E-V2009 E-M78* E-V1477 E-V1083* E-V13 E-V22 E-V12* E-V32 E-V259 E-V65 E-V257* E-M81 E-M123* E-M34 E-V1515* E-V1486* E-V2881* E-V1792 E-V92 E-M293* E-V3065 E-V42 E-V1785* E-V6 E-V16
Northern Africa
Moroccan Arabs 55 Morocco AA/Semitic 15.9 0.0 0.0 0.0 0.0 0.0 7.3 0.0 0.0 0.0 32.7 0.0 30.9 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Asni Berbers 54 Morocco AA/Berber 85.2 0.0 0.0 0.0 0.0 0.0 3.7 0.0 0.0 0.0 0.0 1.9 79.6 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Bouhria Berbers 67 Morocco AA/Berber 79.1 0.0 0.0 0.0 0.0 1.5 0.0 0.0 0.0 0.0 0.0 0.0 77.6 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Middle Atlas Berbers 69 Morocco AA/Berber 81.2 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 10.1 0.0 71.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Marrakech Berbers 27 Morocco AA/Berber 92.6 0.0 0.0 0.0 0.0 0.0 3.7 3.7 0.0 0.0 0.0 3.7 77.8 0.0 3.7 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Souss Berbers 34 Morocco AA/Berber 79.4 2.9 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 76.5 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Ouarzazate Berbers 31 Morocco AA/Berber 54.8 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 54.8 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Mozabite Berbers 67 Algeria AA/Berber 89.6 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.5 0.0 86.6 0.0 1.5 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Tunisian Jews 10 Tunisia AA/Semitic 20.0 0.0 0.0 10.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 10.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Libyan Arabs 10 Libya AA/Semitic 20.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 20.0 0.0 30.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Libyan Jews 23 Libya AA/Semitic 26.1 0.0 0.0 0.0 0.0 4.3 0.0 0.0 0.0 0.0 4.3 0.0 0.0 0.0 17.4 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Northern Egyptians 49 Egypt AA/Semitic 20.9 0.0 0.0 0.0 0.0 2.0 16.3 4.1 2.0 0.0 0.0 0.0 4.1 4.1 10.2 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Egyptian Berbers from Siwa 93 Egypt AA/Semitic 18.3 0.0 0.0 0.0 0.0 0.0 0.0 2.2 0.0 0.0 4.3 2.2 1.1 0.0 2.2 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 6.5 0.0
Egyptians from Baharia 41 Egypt AA/Semitic 56.1 0.0 0.0 0.0 0.0 2.4 22.0 14.6 0.0 0.0 2.4 7.3 4.9 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 2.4 0.0
Egyptians from Gurna Oasis 34 Egypt AA/Semitic 17.6 0.0 5.9 0.0 0.0 0.0 0.0 8.8 2.9 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Southern Egyptians 47 Egypt AA/Semitic 30.7 0.0 0.0 0.0 0.0 0.0 0.0 74.5 0.0 0.0 0.0 0.0 0.0 2.1 2.1 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Western/Central Africa
Mandenka 16 Senegal NC/Mande 6.3 0.0 0.0 0.0 0.0 0.0 0.0 6.3 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Tuareg 22 Niger AA/Berber 13.6 0.0 0.0 0.0 0.0 0.0 0.0 4.5 0.0 0.0 0.0 0.0 9.1 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Daba 29 Cameroon (North) AA/Chadic 3.4 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 3.4 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Guidar 9 Cameroon (North) AA/Chadic 11.1 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 11.1 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Mandara 82 Cameroon (North) AA/Chadic 2.4 0.0 0.0 0.0 0.0 0.0 0.0 1.2 0.0 0.0 0.0 1.2 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Shuwa Arabs 5 Cameroon (North) AA/Semitic 20.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 20.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Fulbe from Cameroon 76 Cameroon (North) NC/Atlantic 1.3 1.3 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Moundang 21 Cameroon (North) NC/Adamawa 4.8 0.0 0.0 0.0 0.0 0.0 0.0 0.0 4.8 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Eastern Africa
Tigre 5 Eritrea AA/Semitic 100.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 60.0 0.0 0.0 0.0 0.0 0.0 0.0 20.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 20.0 0.0
Nara 15 Eritrea NS/Sudanic 60.0 0.0 0.0 0.0 0.0 0.0 6.7 0.0 13.3 0.0 0.0 0.0 0.0 0.0 0.0 13.3 6.7 0.0 0.0 0.0 0.0 0.0 13.3 0.0 6.7 0.0
Cunama 20 Eritrea NS/Cunama 65.0 0.0 0.0 0.0 0.0 0.0 5.0 0.0 20.0 0.0 0.0 0.0 0.0 0.0 5.0 0.0 0.0 5.0 0.0 0.0 0.0 0.0 15.0 10.0 5.0 0.0
Saho 94 Eritrea AA/Cushitic 98.9 0.0 0.0 0.0 1.1 0.0 88.3 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.1 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 8.5 0.0
Tigrai 32 Eritrea/Ethiopia AA/Semitic 71.9 0.0 0.0 0.0 0.0 0.0 3.1 3.1 21.9 0.0 0.0 0.0 0.0 0.0 0.0 0.0 3.1 3.1 0.0 0.0 0.0 0.0 0.0 31.3 6.3 0.0
Afar 25 Djibouti AA/Cushitic 60.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 4.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 56.0 0.0
Somali 40 Djibouti AA/Cushitic 25.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 25.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Ethiopian Jews 22 Ethiopia AA/Cushitic 31.8 0.0 0.0 0.0 0.0 0.0 0.0 0.0 9.1 0.0 0.0 0.0 0.0 0.0 13.6 0.0 0.0 0.0 0.0 0.0 0.0 0.0 9.1 0.0 0.0 0.0
Amhara 82 Ethiopia AA/Semitic 45.1 0.0 0.0 0.0 0.0 0.0 2.4 0.0 11.0 0.0 0.0 0.0 0.0 0.0 13.4 0.0 0.0 2.4 0.0 1.2 0.0 0.0 1.2 0.0 8.5 4.9
Oromo 62 Ethiopia AA/Cushitic 53.2 0.0 0.0 0.0 0.0 0.0 0.0 0.0 22.6 0.0 0.0 0.0 0.0 0.0 4.8 0.0 0.0 17.7 0.0 0.0 1.6 0.0 3.2 0.0 1.6 1.6
Wolayta 12 Ethiopia AA/Omotic 58.3 0.0 0.0 0.0 0.0 0.0 8.3 0.0 8.3 0.0 0.0 0.0 0.0 0.0 8.3 0.0 0.0 8.3 0.0 0.0 8.3 0.0 0.0 0.0 16.7 0.0
Somali 12 Ethiopia AA/Cushitic 50.0 0.0 0.0 0.0 0.0 0.0 8.3 0.0 25.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 16.7 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Gurage 7 Ethiopia AA/Semitic 42.9 0.0 0.0 0.0 0.0 0.0 28.6 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 14.3 0.0
Somali 5 Somalia AA/Cushitic 100.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 80.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 20.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Turkana 6 Kenya NS/Sudanic 50.0 0.0 0.0 0.0 0.0 0.0 33.3 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 16.7 0.0 0.0 0.0 0.0 0.0
Borana 9 Kenya AA/Cushitic 77.8 0.0 0.0 0.0 0.0 0.0 0.0 0.0 66.7 0.0 0.0 11.1 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Somali 6 Kenya AA/Cushitic 100.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 66.7 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 16.7 0.0 0.0 0.0 0.0 0.0 0.0 16.7 0.0
Nilotic Western Kenya 11 Kenya NS/Sudanic 45.5 0.0 0.0 0.0 0.0 0.0 9.1 9.1 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 18.2 0.0 0.0 0.0 9.1 0.0
Luhya 51 Kenya NC/Bantu 9.8 0.0 0.0 0.0 0.0 0.0 0.0 0.0 5.9 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 3.9 0.0 0.0 0.0 0.0 0.0
Other Bantu 17 Kenya NC/Bantu 11.8 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 11.8 0.0 0.0 0.0 0.0 0.0
Kikuyu 9 Kenya NC/Bantu 11.1 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 11.1 0.0 0.0 0.0 0.0 0.0
Maasai 45 Kenya NS/Sudanic 37.8 0.0 0.0 0.0 0.0 0.0 6.7 0.0 6.7 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 24.4 0.0 0.0 0.0 0.0 0.0
Tutsi 9 Burundi NC/Bantu 22.2 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 22.2 0.0 0.0 0.0 0.0 0.0
Southern Africa
!Kung 64 Angola KS 10.9 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 9.4 1.6 0.0 0.0 0.0 0.0
Khwe 26 Namibia KS 30.8 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 30.8 0.0 0.0 0.0 0.0 0.0
Bantu 8 South Africa NC/Bantu 12.5 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 12.5 0.0 0.0 0.0 0.0 0.0
Europe
Northern Portuguese 50 Portugal IE 10.0 0.0 0.0 0.0 0.0 4.0 0.0 0.0 0.0 0.0 0.0 0.0 4.0 0.0 0.0 2.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Southern Portuguese 49 Portugal IE 16.3 0.0 0.0 0.0 0.0 4.1 0.0 0.0 0.0 0.0 0.0 0.0 12.2 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Pasiegos from Cantabria 56 Spain IE 42.9 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.8 41.1 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Asturians 90 Spain IE 12.2 0.0 0.0 0.0 0.0 5.6 4.4 0.0 0.0 0.0 0.0 0.0 2.2 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Southern Spaniards 62 Spain IE 6.5 0.0 0.0 0.0 0.0 0.0 3.2 0.0 0.0 0.0 0.0 1.6 1.6 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Spanish Basques 55 Spain Basque 3.6 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 3.6 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
French 85 France IE 8.2 0.0 0.0 0.0 0.0 3.5 0.0 1.2 0.0 0.0 0.0 0.0 3.5 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
French Basques 16 France Basque 6.3 0.0 0.0 0.0 0.0 0.0 0.0 6.3 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Corsicans 140 France IE 6.4 0.0 0.0 0.0 0.0 4.3 0.0 0.0 0.0 0.0 0.0 0.7 0.0 0.0 1.4 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Danish 35 Denmark IE 2.9 0.0 0.0 0.0 0.0 2.9 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Germans 77 Germany IE 3.9 0.0 0.0 0.0 0.0 3.9 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Northern Italians 80 Italy IE 11.3 0.0 0.0 0.0 0.0 6.3 2.5 0.0 0.0 0.0 0.0 0.0 1.3 0.0 1.3 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Central Italians 356 Italy IE 12.9 0.0 0.0 0.0 0.0 5.3 2.0 0.3 0.0 0.0 0.3 0.3 0.8 0.0 3.9 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Southern Italians 141 Italy IE 15.6 0.7 0.0 0.0 0.0 8.5 1.4 0.7 0.0 0.0 0.0 0.0 1.4 0.0 2.8 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Sicilians 153 Italy IE 20.3 0.0 0.0 0.0 0.0 7.2 4.6 0.7 0.0 0.0 0.7 0.0 0.7 0.0 6.5 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Sardinians 374 Italy IE 8.3 0.8 0.0 0.0 0.3 1.1 0.8 0.3 0.0 0.0 1.1 0.3 0.3 0.0 3.5 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Polish 40 Poland IE 2.5 0.0 0.0 0.0 0.0 2.5 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Slovenians 104 Slovenia IE 2.9 0.0 0.0 0.0 0.0 2.9 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Estonians 74 Estonia U 5.4 0.0 0.0 0.0 0.0 4.1 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Hungarians 106 Hungary U 10.4 0.0 0.0 0.0 0.0 9.4 0.0 0.0 0.0 0.0 0.0 0.0 0.9 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Romanians 30 Romania IE 26.7 0.0 0.0 0.0 0.0 26.7 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Macedonians 99 Macedonia IE 18.2 0.0 0.0 0.0 0.0 18.2 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Continental Greeks 32 Greece IE 28.1 0.0 0.0 0.0 0.0 25.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 3.1 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Bulgarians 112 Bulgaria IE 22.3 0.0 0.0 0.0 0.0 21.4 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.9 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Sephardic Bulgarians 20 Bulgaria IE 5.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 5.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Albanians 21 Albania IE 33.3 0.0 0.0 0.0 0.0 33.3 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Near East
Sephardic Turkish 19 Turkey A 10.5 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 5.3 0.0 5.3 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Istanbul Turkish 35 Turkey A 17.1 0.0 0.0 0.0 0.0 2.9 5.7 0.0 0.0 0.0 0.0 0.0 5.7 0.0 2.9 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Southwestern Turkish 40 Turkey A 7.5 0.0 0.0 0.0 0.0 2.5 0.0 0.0 0.0 0.0 0.0 0.0 2.5 0.0 2.5 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Northeastern Turkish 41 Turkey A 2.4 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 2.4 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Central Anatolian 61 Turkey A 9.8 0.0 0.0 0.0 0.0 4.9 0.0 1.6 0.0 0.0 0.0 0.0 0.0 0.0 3.3 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Southeastern Turkish 24 Turkey A 8.3 0.0 0.0 0.0 0.0 4.2 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 4.2 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Erzurum Turkish 25 Turkey A 12.0 0.0 0.0 0.0 0.0 0.0 0.0 4.0 0.0 0.0 0.0 0.0 0.0 0.0 8.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Turkish Cypriots 46 Turkey A 23.9 0.0 0.0 0.0 0.0 10.9 2.2 0.0 0.0 0.0 0.0 0.0 8.7 0.0 2.2 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Bedouins 28 Israel AA/Semitic 14.3 0.0 0.0 0.0 0.0 0.0 3.6 0.0 0.0 0.0 0.0 0.0 3.6 0.0 7.1 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Druze Arabs 28 Israel AA/Semitic 14.3 0.0 0.0 0.0 0.0 10.7 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 3.6 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Palestinians 29 Israel AA/Semitic 13.8 0.0 0.0 0.0 0.0 3.4 6.9 0.0 0.0 0.0 0.0 0.0 0.0 0.0 3.4 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Arabs 41 United Arab Emirate AA/Semitic 7.3 0.0 0.0 0.0 0.0 0.0 2.4 0.0 0.0 0.0 0.0 0.0 0.0 0.0 4.9 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Omanite 13 Oman AA/Semitic 15.4 0.0 0.0 0.0 0.0 0.0 7.7 0.0 0.0 0.0 0.0 0.0 0.0 0.0 7.7 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
Yemenites 94 Yemen AA/Semitic 14.9 0.0 0.0 0.0 0.0 0.0 0.0 2.1 3.2 0.0 0.0 0.0 1.1 0.0 7.4 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 1.1

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,[28] whereas the haplogroups E*, E3*, K*(xP),[28] and J*(xJ2) were significantly more frequent among the elite endurance athletes.[28]

Subclades of E-M215[]

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)

Family tree[]

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)[29][5][6]

  • 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)[30]
        • E-V257/L19 (L19, V257) – E1b1b1b1[30]
          • 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[30]
          • 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.

Exceptional cases of men who are M215 positive but M35 negative ("E-M215*") have been discovered so far in two Amharas of Ethiopia and one Yemeni.[8][31] At least some of these men, perhaps all, are known since early 2011 to be in a rare sibling clade to E-M35, known as E-V16 or E-M281.[32] The discovery of M281 was announced by Semino et al. 2002, who found it in two Ethiopian Oromo. Trombetta et al. 2011 found 5 more Ethiopian individuals and an equivalent SNP to M281, V16. It was in the 2011 paper that the family tree position (M215+/M35-) was discovered as described above. The E-M215 derivative, E-M35 is defined by the M35 SNP. 1 Turkmen individual from Jawzjan with a subclade defining mutation is referred to as E-M35*.[33] As of June 2015, there is an increasingly complex tree structure which divides most men in E-M35 into two branches: E-V68 and E-Z827.

The most frequently described subclades are E-M78, a part of E-V68, and E-M81, which is a branch of E-Z827. These two subclades represent the largest proportion of the modern E-M215 population. E-M78 is found over most of the range where E-M215 is found excluding Southern Africa. E-M81 is found mainly in North Africa. E-M123 is less common but widely scattered, with significant populations in specific parts of the Horn of Africa, the Levant, Arabia, Iberia, and Anatolia. A new clade (E-V1515) was defined by Trombetta et al. 2015, which originated about 12 kya (95% CI 8.6–16.4) in eastern Africa where it is currently mainly distributed. This clade includes the E-V42, E-M293, E-V92 and E-V6 subclades, which were identified as E-M35 basal clades in a previous phylogeny.[1]

Within E-M35, there are striking parallels between two haplogroups, E-V68 and E-V257. Both contain a lineage which has been frequently observed in Africa (E-M78 and E-M81, respectively) and a group of undifferentiated chromosomes that are mostly found in southern Europe. An expansion of E-M35 carriers, possibly from the Middle East as proposed by other authors, and split into two branches separated by the geographic barrier of the Mediterranean Sea, would explain this geographic pattern. However, the absence of E-V68* and E-V257* in the Middle East makes a maritime spread between northern Africa and southern Europe a more plausible hypothesis.

TMRCA of the major nodes in E-M215[]

TMRCA (kya) Trombetta 2015 YFull
E-M215 39 35,4
*E-M35 25 23,9
**E-V68 20 20
***E-M78 15 13
**E-Z827 ? 23,6
***E-V257/L19 ? 13,9
****E-M81 ? 2,7
***E-Z830 20 19
****E-M34 ? 15
****E-V1515 19 ?

E-V68 (E1b1b1a)[]

E-V68, is dominated by its longer-known subclade E-M78. Three "E-V68*" individuals who are in E-V68 but not E-M78 have been reported in Sardinia, by Trombetta et al. 2011, when announcing the discovery of V68. The authors noted that because E-V68* was not found in the Middle Eastern samples, this appears to be evidence of maritime migration from Africa to southwestern Europe. E-M78 is a commonly occurring subclade, widely distributed in North Africa, the Horn of Africa, West Asia, (the Middle East and Near East) "up to Southern Asia",[3] and all of Europe.[34] The European distribution has a frequency peak centered in parts of the Balkans (up to almost 50% in some areas)[17][35] and Sicily, and declining frequencies evident toward western, central, and northeastern Europe.

Based on genetic STR variance data, Cruciani et al. 2007 suggests that E-M78 originated in the region of Egypt and Libya.[Note 4] about 18,600 years ago (17,300 – 20,000 years ago).[Note 5] Battaglia et al. 2008 describe Egypt as "a hub for the distribution of the various geographically localized M78-related subclades" and, based on archaeological data, they propose that the point of origin of E-M78 (as opposed to later dispersal from Egypt) may have been in a refugium which "existed on the border of present-day Sudan and Egypt, near Lake Nubia, until the onset of a humid phase around 8500 BC. The northward-moving rainfall belts during this period could have also spurred a rapid migration of Mesolithic foragers northwards in Africa, the Levant and ultimately onward to Asia Minor and Europe, where they each eventually differentiated into their regionally distinctive branches". Towards the south, Hassan et al. 2008 also explain evidence that some subclades of E-M78, specifically E-V12 and E-V22, "might have been brought to Sudan from North Africa after the progressive desertification of the Sahara around 6,000–8,000 years ago". And similarly, Cruciani et al. 2007 propose that E-M78 in Ethiopia, Somalia and surrounding areas, back-migrated to this region from the direction of Egypt after acquiring the E-M78 mutation.

Recently, E-M78 was dated by Trombetta et al. 2015. between 20,300 and 14,800 years ago.[1]

Subclades of E-M78[]

Listed here are the main subclades of M78 as of June 2015. Within the E-M78 subclade, Trombetta et al. 2015 allocated most of the former E-M78* chromosomes to three new distinct branches: E-V1083*, E-V1477 and E-V259. The first is a paragroup sister to clades E-V22 and E-V13. The mutation V1477 defines a new basal branch that has been observed only in one northern African sample. Finally, a sister clade of E-V12 defined by V264 includes E-V65 and V259, a new lineage distributed in central Africa.[1][34]

  • E-M78 (E1b1b1a1) North Africa, Horn of Africa, West Asia, Europe (formerly "E1b1b1a").
    • E-M78* Found in Morocco, southern Portugal, southern Spain and Iran (Tehran and Semnan provinces).
    • E-V1477 Found in Tunisian Jews.
    • E-V1083
      • E-V1083* Found only in Eritrea (1.1%) and Sardinia (0.3%).
      • E-V13 This is the most common subclade of E-M215 found in Europe. It is especially common in the Balkans.
      • E-V22. Concentrated in Northeast Africa and the Near East. Peaks among the Saho.
    • E-V1129
      • E-V12. Found in Egypt, Sudan, and other places. Has an important subclade
        • E-V12* Most common lineage among Southern Egyptians (74.5%).
        • E-V32. Very common among Somalis, Tigre and Oromos.
      • E-V264
        • E-V259 Found in North Cameroon.
        • E-V65 Associated with North Africa, but also found in Sicily and also found in continental Italy.
    • E-M521 Not mentioned by Trombetta et al.2015. Found in two individuals in Greece by Battaglia et al. 2008 and in one individual from the Eastern Alpine region of Italy by Coia et al. (2013)

E-Z827 (E1b1b1b)[]

In human genetics, E-Z827, is the name of a major human Y-chromosome DNA haplogroup abundantly found in North Africa, particularly the Maghreb, and to a lesser extent in Horn of Africa, the Near East and Europe.

E-V257/E-L19 (E1b1b1b1)[]

E-V257* individuals in their samples who were E-V257, but not E-M81. A Borana from Kenya, a Marrakesh Berber, a Corsican, a Sardinian, a southern Spaniard and a Cantabrian. As mentioned above, Trombetta et al. 2011 propose that the absence of E-V257* in the Middle East (Yfull found a young one in Iranian Azerbaijan[36] and a different young one in Armenia[37]) makes a maritime movement from northern Africa to southern Europe the most plausible hypothesis so far to explain its distribution. Yfull lists 24 individuals, all of whom belong to a single branch that is 30% younger than their common ancestor with M81.[38]

E-M81[]

E-M81 is the most common subclade of haplogroup E-L19/V257. It is concentrated in the Maghreb, and is dominated by its E-M183 subclade. E-M183 is believed to have originated in the Northwest Africa and has an estimated age of 4700 ybp.[39]

This haplogroup reaches a mean frequency of 61% in the Maghreb and 51% in North Africa, decreasing in frequency from approximately 80% to 100% in Berber populations,[40][41] including Saharawis, to approximately 29% to the east of this range in Egypt.[42][43][44][45] Because of its young age and prevalence among these groups and also others such as Mozabite, Middle Atlas, Kabyle and other Berber groups, it is sometimes referred to as a genetic "Berber marker". Pereira et al. 2010 report high levels amongst Tuareg in two Saharan populations – 77.8% near Gorom-Gorom, in Burkina Faso, and 81.8% from in Mali. There was a much lower frequency of 11.1% in the vicinity of Tanut in Niger. E-M81 is also quite common among Maghrebi Arabic-speaking groups. It is generally found at frequencies around 45% in coastal cities of Algeria and Tunisia (Jijel, Oran, Tizi Ouzou, Algiers, Tunis, Sousse).[42][46]

In this key area from Egypt to the Atlantic Ocean, Sole-Morata et al. 2017 report a M183-SM001 pattern of decreasing microsatellite haplotype variation (implying greater lineage age in the former areas) from the Reguibat tribe in Oran and they found M183* (not SM001) in Iberia, Libya and Morocco. Arredi et al. 2004 however showed microsatellite variation decrease from East to West, accompanied by a substantial increasing frequency. At the eastern extreme of this core range, Kujanova et al. 2009 found M81 in 28.6% (10 out of 35 men) in in the Libyan Desert in Egypt.

Arredi et al. 2004 believe the pattern of distribution and variance to be consistent with the hypothesis of a "demic diffusion" from the East. There is no autochthonous presence of E-M81 in the Near East (there is one in Lebanon[47]), indicating that M81 most likely emerged from its parent clade M35 either in North Africa, or possibly as far south as the Horn of Africa.[22]

In Europe, E-M81 is widespread but rare, in the Iberian Peninsula shows an average frequency of 4% (45/1140) in the Iberian Peninsula with frequencies reaching 3.5% in Galicia, 4% in Western Andalusia and Northwest Castile. However this study includes 153 individuals from Majorca, Minorca and Ibiza islands as well as 24 individuals from Gascony which are not in the Iberian Peninsula. Without these 177 individuals, average for Iberian Peninsula is 4.1% (40/963),[48] it is found at comparable levels to E-M78, with an average frequency of around 5%. Its frequencies are higher in the western half of the peninsula with frequencies reaching 8% in Extremadura and southern Portugal, 4% to 5% in Galicia, 5% in western Andalusia and 4% in northwest Castile and 9% to 17% in Cantabria.[26][49][50][51][52] The highest frequencies of this clade found so far in Europe were observed in the Valles Pasiegos from Cantabria, ranging from 5.5% (8/45)[52] to 41% (23/56).[8] An average frequency of 8.28% (54/652) has also been reported in the Spanish Canary Islands with frequencies over 10% in the three largest islands of Tenerife (10.68%), Gran Canaria (11.54%) and Fuerteventura (13.33%).[53]

E-M81 is also found in France,[8] 2.70% (15/555) overall with frequencies surpassing 5% in Auvergne (5/89) and Île-de-France (5/91),[54][55] in Sicily (approximately 9% overall, but up to 14% in Piazza Armerina),[56] and in very much lower frequency near Lucera (2.7%), in continental Italy,[51] possibly due to ancient migrations during the Islamic, Roman, and Carthaginian empires. In a 2014 study by Stefania Sarno et al. with 326 samples from Cosenza, Reggio Calabria, Lecce and 5 Siclian provinces, E-M81 shows an average frequency of 6.5%, but the typical Maghrebin core haplotype 13-14-30-24-9-11-13 has been found in only two out of the five E-M81 individuals. These results, along with the negligible contribution from North-African populations revealed by the admixture-like plot analysis, suggest only a marginal impact of trans-Mediterranean gene flows on the current SSI genetic pool.[56][57]

E-M81 was also found in 2013 at 5.8% in a large sample of 1 204 Sardinians.[58]

As a result of its old world distribution, this subclade is found throughout Brasil[59] 5.4% in Brazil (Rio de Janeiro),[Note 6] and among Hispanic men from California and Hawaii 2.4%.[60]

In smaller numbers, E-M81 men can be found in areas in contact with North Africa, both around the Sahara, in places like Sudan, and around the Mediterranean in places like Lebanon, Turkey, and amongst Sephardi Jews.

There are two recognized subclades of E-M81, although one is much more important than the other.[which?]

The E-M81 subclade has been found in ancient Guanche (Bimbapes) fossils excavated in Punta Azul, El Hierro, Canary Islands, which are dated to the 10th century (~44%).[61]

E-M107[]

Underhill 2000 found one example of E-M107 in Mali.

E-M183[]

E-M183 is extremely dominant (more than 99%[62]) within E-M81. Karafet et al. 2008 first described it as a subclade of E-M81. The known subclades of E-M183 include:

E-Z830 (E1b1b1b2)[]

This is a recently discovered subclade which has not yet been included in most haplogroup trees, E-Z830 includes the confirmed subclades of E-M123, E-V1515 (E-M293, E-V42, E-V6, E-V92), and E-Z830*, and is a sibling clade to E-L19. Currently, [63] the E-M35 phylogeny project] recognizes four distinct clusters of Z830* carriers, two of which are exclusively Jewish in origin. The remaining two are significantly smaller, and include scattered individuals in Germany, Spain, Latin America, Egypt, and Ethiopia.[64][65][66][67]

E-M123[]

E-M123 is mostly known for its major subclade E-M34, which dominates this clade.[Note 7]

E-V1515[]

A new clade (E-V1515) was defined by Trombetta et al. 2015, which originated about 12 kya (95% CI 8.6–16.4) in eastern Africa where it is currently mainly distributed. This clade includes all the sub-Saharan haplogroups (E-V42, E-M293, E-V92, E-V6) reported as E-M35 basal clades in a previous phylogeny.[1]

E-M293[]

E-M293 is a subclade of E-V1515. It was first identified by ISOGG as the second clade within E-Z830. It was discovered before E-Z830, being announced in Henn 2008, which associated it with the spread of pastoralism from East Africa into Southern Africa. So far high levels have been found in specific ethnic groups in Tanzania and Southern Africa. Highest were the Datooga (43%), Khwe (Kxoe) (31%), Burunge (28%), and Sandawe peoples (24%). Henn (2008) in their study also found two Bantu-speaking Kenyan males with the M293 mutation.[9]

Other E-M215 subclades are rare in Southern Africa. The authors state "Without information about M293 in the Maasai, Hema, and other populations in Kenya, Sudan, and Ethiopia, we cannot pinpoint the precise geographic source of M293 with greater confidence. However, the available evidence points to present-day Tanzania as an early and important geographic locus of M293 evolution.". They also say that "M293 is only found in sub-Saharan Africa, indicating a separate phylogenetic history for M35.1 * (former) samples further north".

E-P72 appears in Karafet (2008). Trombetta et al. 2011 announced that this is a subclade of E-M293.

E-V42[]

Trombetta et al. 2011 announced the discovery of E-V42 in two Beta Israel persons. It was suggested that it may be restricted to the region around Ethiopia. However, further testing by commercial DNA testing companies confirmed many positive results for this subclade in Saudi Arabia, Kuwait and one person in Portugal who has a root from Arabia.[68]

E-V6[]

The E-V6 subclade of E-V1515 is defined by V6. Cruciani et al. (2004) harvcoltxt error: multiple targets (2×): CITEREFCrucianiLa_FrattaSantolamazzaSellitto2004 (help) identified a significant presence of these lineages in Ethiopia and also some in the neighboring Somalis. Among the Ethiopian and Somali samples, the highest were 14.7% among the Amhara and 16.7% among the Wolayta.

To the south, Tishkoff et al. (2007) identified one V6+ man in a sample of 35 Datooga of Tanzania. And further to the north, Dugoujon et al. (2009) identified another 6 men in a sample of 93 from the Siwa Oasis, which is a Berber population

E-V92[]

Trombetta et al. 2011 announced the discovery of E-V92 in two Amharas. Like E-V6 and E-V42 it possibly only exists in the area of Ethiopia.

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-P29 21 III 3A 13 Eu3 H2 B E* E E E E E E E E E E
E-M33 21 III 3A 13 Eu3 H2 B E1* E1 E1a E1a E1 E1 E1a E1a E1a E1a E1a
21 III 3A 13 Eu3 H2 B E1a E1a E1a1 E1a1 E1a E1a E1a1 E1a1 E1a1 E1a1 E1a1
E-M75 21 III 3A 13 Eu3 H2 B E2a E2 E2 E2 E2 E2 E2 E2 E2 E2 E2
21 III 3A 13 Eu3 H2 B E2b E2b E2b E2b1 - - - - - - -
E-P2 25 III 4 14 Eu3 H2 B E3* E3 E1b E1b1 E3 E3 E1b1 E1b1 E1b1 E1b1 E1b1
E-M2 8 III 5 15 Eu2 H2 B E3a* E3a E1b1 E1b1a E3a E3a E1b1a E1b1a E1b1a E1b1a1 E1b1a1
8 III 5 15 Eu2 H2 B E3a1 E3a1 E1b1a1 E1b1a1 E3a1 E3a1 E1b1a1 E1b1a1 E1b1a1 E1b1a1a1a E1b1a1a1a
8 III 5 15 Eu2 H2 B E3a2 E3a2 E1b1a2 E1b1a2 E3a2 E3a2 E1b1a2 E1b1a2 E1ba12 removed removed
8 III 5 15 Eu2 H2 B E3a3 E3a3 E1b1a3 E1b1a3 E3a3 E3a3 E1b1a3 E1b1a3 E1b1a3 E1b1a1a1c E1b1a1a1c
8 III 5 15 Eu2 H2 B E3a4 E3a4 E1b1a4 E1b1a4 E3a4 E3a4 E1b1a4 E1b1a4 E1b1a4 E1b1a1a1g1c E1b1a1a1g1c
8 III 5 15 Eu2 H2 B E3a5 E3a5 E1b1a5 E1b1a5 E3a5 E3a5 E1b1a5 E1b1a5 E1b1a5 E1b1a1a1d E1b1a1a1d
8 III 5 15 Eu2 H2 B E3a6 E3a6 E1b1a6 E1b1a6 E3a6 E3a6 E1b1a6 E1b1a6 E1b1a6 E1b1a1a1e E1b1a1a1e
E-M35 25 III 4 14 Eu4 H2 B E3b* E3b E1b1b1 E1b1b1 E3b1 E3b1 E1b1b1 E1b1b1 E1b1b1 removed removed
E-M78 25 III 4 14 Eu4 H2 B E3b1* E3b1 E1b1b1a E1b1b1a1 E3b1a E3b1a E1b1b1a E1b1b1a E1b1b1a E1b1b1a1 E1b1b1a1
25 III 4 14 Eu4 H2 B E3b1a E3b1a E1b1b1a3a E1b1b1a1c1 E3b1a3a E3b1a3a E1b1b1a3a E1b1b1a3a E1b1b1a3a E1b1b1a1c1 E1b1b1a1c1
E-M81 25 III 4 14 Eu4 H2 B E3b2* E3b2 E1b1b1b E1b1b1b1 E3b1b E3b1b E1b1b1b E1b1b1b E1b1b1b E1b1b1b1 E1b1b1b1a
25 III 4 14 Eu4 H2 B E3b2a E3b2a E1b1b1b1 E1b1b1b1a E3b1b1 E3b1b1 E1b1b1b1 E1b1b1b1 E1b1b1b1 E1b1b1b1a E1b1b1b1a1
25 III 4 14 Eu4 H2 B E3b2b E3b2b E1b1b1b2 E1b1b1b1b1 E3b1b2 E3b1b2 E1b1b1b2a E1b1b1b2a E1b1b1b2a E1b1b1b2a E1b1b1b1a2a
E-M123 25 III 4 14 Eu4 H2 B E3b3* E3b3 E1b1b1c E1b1b1c E3b1c E3b1c E1b1b1c E1b1b1c E1b1b1c E1b1b1c E1b1b1b2a
25 III 4 14 Eu4 H2 B E3b3a* E3b3a E1b1b1c1 E1b1b1c1 E3b1c1 E3b1c1 E1b1b1c1 E1b1b1c1 E1b1b1c1 E1b1b1c1 E1b1b1b2a1
25 III 4 14 Eu4 H2 B E3ba1 E3b3a1 E1b1b1c1a E1b1b1c1a1 E3b1c1a E3b1c1a E1b1b1c1a1 E1b1b1c1a1 E1b1b1c1a1 E1b1b1c1a1 E1b1b1b2a1a1

Research publications[]

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

  • α Jobling and Tyler-Smith 2000 and Kaladjieva 2001
  • β Underhill 2000
  • γ Hammer 2001
  • δ Karafet 2001
  • ε Semino 2000
  • ζ Su 1999
  • η Capelli 2001

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.[5] 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.[8] 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).[6]

See also[]

Genetics[]

Y-DNA E subclades[]

Y-DNA backbone tree[]

Phylogenetic tree of human Y-chromosome DNA haplogroups [χ 1][χ 2]
"Y-chromosomal Adam"
A00 A0-T [χ 3]
A0 A1 [χ 4]
A1a
BT
B CT
DE CF
D E C F
     GHIJK
G HIJK
IJK H
IJ K
I   J     LT [χ 5]       K2 [χ 6]
L     T    K2a [χ 7]        K2b [χ 8]            [χ 9]  
K-M2313 [χ 10]     K2b1 [χ 11] P [χ 12]
NO   S [χ 13]  M [χ 14]    P1     
N O Q R

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. harvcoltxt error: multiple targets (2×): CITEREFCrucianiLa_FrattaSantolamazzaSellitto2004 (help) 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) harvcoltxt error: multiple targets (2×): CITEREFCrucianiLa_FrattaSantolamazzaSellitto2004 (help), re-calibrating the same data.
  2. ^ "Y chromosome data show a signal for a separate late-Pleistocene migration from Africa to Europe via Sinai as evidenced through the distribution of haplogroup E3b lineages, which is not manifested in mtDNA haplogroup distributions."Underhill & Kivisild (2007:547)
  3. ^ "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)
  4. ^ Cruciani et al. 2007 use the term Northeastern Africa to refer to Egypt and Libya, as shown in Table 1 of the study. Prior to Cruciani et al. 2007, Semino et al. 2004 East Africa as a possible place of origin of E-M78, based upon Ethiopian testing. This was because of the high frequency and diversity of E-M78 lineages in the region of Ethiopia. However, Cruciani et al. 2007 were able to study more data, including populations from North Africa who were not represented in the Semino et al. 2004 study, and found evidence that the E-M78 lineages which make up a significant proportion of some populations in that region, were relatively young branches (see E-V32 below). They therefore concluded that "Northeast Africa" was the likely place of origin of E-M78 based on "the peripheral geographic distribution of the most derived subhaplogroups with respect to northeastern Africa, as well as the results of quantitative analysis of UEP and microsatellite diversity". So according to Cruciani et al. 2007 E-M35, the parent clade of E-M78, originated in East Africa, subsequently spread to Northeast Africa, and then there was a "back migration" of E-M215 chromosomes that had acquired the E-M78 mutation. Cruciani et al. 2007 therefore note this as evidence for "a corridor for bidirectional migrations" between Northeast Africa (Egypt and Libya in their data) on the one hand and East Africa on the other. The authors believe there were "at least 2 episodes between 23.9–17.3 ky and 18.0–5.9 ky ago".
  5. ^ Cruciani et al. 2007 use two calculation methods for estimating the age of E-M78 which give very different results. For the main 18,600 years ago, the is used, while for a second "", used as a check, gives 13.7kya with a standard deviation of 2.3kya, but the difference between the two methods is only large for the age estimation of E-M78, not its subclades. The authors state that the big difference is "attributable to the relevant departure from a star-like structure because of repeated founder effects"
  6. ^ (6 out of 112), "The presence of chromosomes of North African origin (E3b1b-M81; Cruciani et al., 2004) can also be explained by a Portuguese but especially Italian-mediated influx, since this haplogroup reaches a frequency of 4.6% in Portugal and of 4.8% Italy, quite similar to the frequency found in Rio de Janeiro (4.4%) among European contributors." Silva et al. 2006
  7. ^ As of 11 November 2008 for example, the E-M35 phylogeny project[permanent dead link] had records of four E-M123* tests, compared to 93 test results with E-M34.

References[]

  1. ^ Jump up to: a b c d e f g h Trombetta et al. 2015, Phylogeographic refinement and large scale genotyping of human Y chromosome haplogroup E provide new insights into the dispersal of early pastoralists in the African continent
  2. ^ Jump up to: a b 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. ^ Jump up to: a b c d Cruciani et al. (2007)
  4. ^ ISOGG (2011)
  5. ^ Jump up to: a b c Karafet et al. (2008)
  6. ^ Jump up to: a b c Y Chromosome Consortium "YCC" (2002)
  7. ^ Large-scale recent expansion of European patrilineages shown by population resequencing, Chiara Batini et al, nature.com, 2015
  8. ^ Jump up to: a b c d e f g Cruciani et al. (2004) harvcoltxt error: multiple targets (2×): CITEREFCrucianiLa_FrattaSantolamazzaSellitto2004 (help)
  9. ^ Jump up to: a b Henn et al. (2008)
  10. ^ Hassan et al. (2008)
  11. ^ Lacan et al. (2011)
  12. ^ "Molecular genetic investigation of the Neolithic population history in the western Carpathian Basin" (PDF). Archived from the original (PDF) on 2015-07-21.
  13. ^ 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.
  14. ^ 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.
  15. ^ 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.
  16. ^ Loosdrecht et al. (2018), Pleistocene North African genomes link Near Eastern and sub-Saharan African human populations, Science 15 Mar 2018:eaar8380 DOI:10.1126/science.aar8380
  17. ^ Jump up to: a b c d Semino et al. (2004)
  18. ^ Rosser et al. (2000)
  19. ^ Firasat et al. (2006)
  20. ^ Ehret et al. (2004)
  21. ^ Keita & Boyce (2005)
  22. ^ Jump up to: a b Keita 2008
  23. ^ Behar et al. (2003)
  24. ^ Behar et al. (2004)
  25. ^ Shen et al. (2004)
  26. ^ Jump up to: a b Adams et al. (2008)
  27. ^ Nebel et al. (2001)
  28. ^ Jump up to: a b c 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.
  29. ^ ISOGG (2008)
  30. ^ Jump up to: a b c ISOGG 2015
  31. ^ Cadenas et al. 2007
  32. ^ Trombetta et al. 2011
  33. ^ (Figure S.7) J D Cristofaro et al., 2013, "Afghan Hindu Kush: Where Eurasian Sub-Continent Gene Flows Converge", http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0076748
  34. ^ Jump up to: a b Cruciani et al. 2006
  35. ^ Peričic et al. 2005
  36. ^ "E-Y133414 YTree".
  37. ^ "E-FGC18960 YTree".
  38. ^ "E-L19 YTree".
  39. ^ "E-M81 YTree".
  40. ^ Cruciani, Fulvio; La Fratta, Roberta; Santolamazza, Piero; Sellitto, Daniele; Pascone, Roberto; Moral, Pedro; Watson, Elizabeth; Guida, Valentina; Colomb, Eliane Beraud (May 2004). "Phylogeographic Analysis of Haplogroup E3b (E-M215) Y Chromosomes Reveals Multiple Migratory Events Within and Out Of Africa". American Journal of Human Genetics. 74 (5): 1014–1022. doi:10.1086/386294. ISSN 0002-9297. PMC 1181964. PMID 15042509.
  41. ^ Fadhlaoui-Zid, Karima; Martinez-Cruz, Begoña; Khodjet-el-khil, Houssein; Mendizabal, Isabel; Benammar-Elgaaied, Amel; Comas, David (October 2011). "Genetic structure of Tunisian ethnic groups revealed by paternal lineages". American Journal of Physical Anthropology. 146 (2): 271–280. doi:10.1002/ajpa.21581. ISSN 1096-8644. PMID 21915847.
  42. ^ Jump up to: a b Arredi et al. 2004
  43. ^ Alvarez et al. 2009
  44. ^ Bosch et al. 2001
  45. ^ Kujanová, Martina; Pereira, Luísa; Fernandes, Verónica; Pereira, Joana B.; Cerný, Viktor (October 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. ISSN 1096-8644. PMID 19425100.
  46. ^ Robino et al. 2008
  47. ^ "E-A5604 YTree".
  48. ^ see table Archived 2013-07-30 at the Wayback Machine.
  49. ^ Flores et al. 2005
  50. ^ Beleza et al. 2006
  51. ^ Jump up to: a b Capelli et al. 2009
  52. ^ Jump up to: a b MacaMaca-Meyer et al. 2003
  53. ^ Fregel et al. 2009, see table
  54. ^ Ramos-Luisa et al. 2009
  55. ^ Only men with French surname were analysed, in order to try to exclude more recent immigrants.
  56. ^ Jump up to: a b Di Gaetano et al. 2009
  57. ^ Sarno, S; Boattini, A; Carta, M; Ferri, G; Alù, M; Yao, DY; Ciani, G; Pettener, D; Luiselli, D (2014). "An Ancient Mediterranean Melting Pot: Investigating the Uniparental Genetic Structure and Population History of Sicily and Southern Italy". PLOS ONE. 9 (4): e96074. Bibcode:2014PLoSO...996074S. doi:10.1371/journal.pone.0096074. PMC 4005757. PMID 24788788. CC-BY icon.svg This article contains quotations from this source, which is available under a Creative Commons Attribution 4.0 International (CC BY 4.0) license.
  58. ^ Francalacci et al. (2013), Low-Pass DNA Sequencing of 1200 Sardinians Reconstructs European Y-Chromosome Phylogeny
  59. ^ (8 out of 132), Mendizabal et al. 2008
  60. ^ (7 out of 295), Paracchini et al. 2003
  61. ^ Ordóñez, A. C.; Fregel, R.; Trujillo-Mederos, A.; Hervella, M.; de-la-Rúa, C.; Arnay-de-la-Rosa, M. (2017). "Genetic studies on the prehispanic population buried in Punta Azul cave (El Hierro, Canary Islands)". Journal of Archaeological Science. 78: 20–28. doi:10.1016/j.jas.2016.11.004.
  62. ^ "E-M81 YTree".
  63. ^ [1][permanent dead link]
  64. ^ "Archived copy". Archived from the original on 2015-09-24. Retrieved 2012-04-01.CS1 maint: archived copy as title (link)
  65. ^ "Archived copy". Archived from the original on 2015-09-24. Retrieved 2012-04-01.CS1 maint: archived copy as title (link)
  66. ^ "Archived copy". Archived from the original on 2015-09-24. Retrieved 2012-04-01.CS1 maint: archived copy as title (link)
  67. ^ "Archived copy". Archived from the original on 2015-09-24. Retrieved 2012-04-01.CS1 maint: archived copy as title (link)
  68. ^ "Archived copy". Archived from the original on 2015-09-24. Retrieved 2013-01-14.CS1 maint: archived copy as title (link)

Additional sources[]

External links[]

Retrieved from ""