Haplogroup E-M215 (Y-DNA)

In human genetics, Y Haplogroup E-M215, also referred to in the literature by other names such as E1b1b and E3b (see further discussion below), is a major Y-chromosome 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 paternal lines of humanity, linking from father-to-son back to a common male-line ancestor. It is a subject of discussion and study in genetics as well as genetic genealogy, archaeology, and historical linguistics.

E-M215 has two ancient branches that contain all known modern E-M215 men, E-M35 and E-M281. Of these two, the only branch that has been confirmed in a native population outside of Ethiopia is E-M35, which in turn has four known branches, E-V68, E-Z827, E-V6 and E-V92. The first two, E-V68 and E-Z827 contain by far the majority of all modern E-M215 men. E-V68 and E-V257 have been found in highest numbers in North Africa and the Horn of Africa; but also in lower numbers in parts of the Middle East and Europe, and in isolated populations of Southern Africa. The remaining two branches, E-V6 and E-V92 have mostly been observed in Ethiopia.

Origins

The modern population of E-M215 and E-M35 lineages are almost identical, and therefore by definition age estimates based on these two populations are also identical. E-M215 and its dominant subclade E-M35 —formerly Haplogroup 21 ^[7]- are believed to have first appeared in Horn of Africa about 22,400 years ago.^{[1][Note 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.^[1][2][3][4]

All major sub-branches of E-M35 are thought to have originated in the same general area as the parent clade: in North Africa, Horn of Africa, or nearby areas of the Near East. Some branches of E-M35 left Africa many thousands of years ago. For example Battaglia et al. (2007) estimated that E-M78 (called E1b1b1a1 in that paper) has been in Europe longer than 10,000 years. More recently, human remains excavated in a Spanish funeral cave dating from approximately 7,000 years ago were shown to be in this haplogroup.^[8] Nevertheless, E-M35 likely represents more recent movements of people out of Africa than haplogroup CT, which otherwise dominates human populations outside Africa. Underhill (2002), for example, believes 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".

Concerning European E-M35 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 Africa to southwestern Europe, via a maritime route. (See below.)

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 West Asia and Europe(especially the Mediterranean and the Balkans).^{[2][3][9][10]}

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.^[2]

E-M215 and E-M35 are quite common among Afro-Asiatic speakers. The linguistic group and carriers of E-M35 lineage have a high probability to have arisen and dispersed together from the region of origin of this language family.^[11][12][13] Amongst populations with an Afro-Asiatic speaking history, a significant proportion of Jewish male lineages are E-M35.^[14] Haplogroup E-M35, which accounts for approximately 18%^[3] to 20%^[15][16] of Ashkenazi and 8.6%^[17] to 30%^[3] of Sephardi Y-chromosomes, appears to be one of the major founding lineages of the Jewish population.^{[18][Note 3]}

The following table only includes sample populations with more than 50% E-M215 men. Some of the most common variants of E-M215 are also shown. Cells marked "NT" indicate SNPs that were not tested for in the relevant publication. Grey numbers in italic are cases that are inferred from the other results shown, not test results.

Subclades of E-M215

Exceptional cases of men who are M215 positive but M35 negative ("E-M215*") have been discovered so far in two Amharic Ethiopians and 1 Yemeni.^[2][25] 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.^[20] 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. Individuals with no known subclade defining mutations are referred to as E-M35*. As of 2012, there is an increasingly complex tree structure which divides most men in E-M35 into two major branches: E-V68 and E-Z827, although other branches still exist in the Horn of Africa and surrounding regions, most notably E-V6. The most frequently described subclades are E-M78, a part of E-V68, and E-M81, which is a branch of E-V827. 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. E-M293 is a fourth major subclade that has been found in parts of Eastern and Southern Africa, includes the majority of unique E-M35 lineages in sub-Saharan Africa (those that lack M78, M81, or M123 mutations).^[26] Many smaller subclades, such as those defined by mutations V6, V42 and V92, have been found only in the Horn of Africa and nearby regions.

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.

—Trombetta et al. 2011

E-V68

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",^[1] and all of Europe.^[27] The European distribution has a frequency peak centered in parts of the Balkans (up to almost 50% in some areas)^[3][28] 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.

Subclades of E-M78

There are four recognized subclades, which were mostly defined by Cruciani et al. 2006.

• E-V12 Found in Egypt, Sudan, and other places. Has an important subclade E-V32 which is very common among Ethiopian Oromo, Borana Oromo from Kenya and Somalis.
• E-V13 This is the most common type of E-M215 found in Europe and is especially common in the Balkans.
• E-V22 Found in Egypt, the Middle East and other places.
• E-V65 Associated with North Africa, but also found in Italy and Spain.
• E-M521 Found in two individuals in Greece by Battaglia et al. 2008

E-Z827

In human genetics, E-Z827, is the name of a major Y chromosome haplogroup abundantly found in North Africa (especially Maghreb) and to a lesser extent in the Near East, Sub-Saharan Africa and Europe.

E-V257/E-L19

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 makes a maritime movement from northern Africa to southern Europe the most plausible hypothesis so far to explain its distribution.

E-M81

E-M81 is the most common Y-chromosome haplogroup in North Africa, dominated by its subclade E-M183. It is thought to have originated in the area of North Africa 5,600 years ago.^[2][29] This haplogroup reaches a mean frequency of 42% in North Africa, decreasing in frequency from approximately 80% or more in some Moroccan Berber populations, including Saharawis, to approximately 10% to the east of this range in Egypt.^[29][30][31] Because of its 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 Gosi in Mali. There was a much lower frequency of 11.1% in the vicinity of Tanut in the Republic of Niger. E-M81 is also quite common among North African Arabic-speaking groups. It is generally found at frequencies around 45% in coastal cities of North Africa (Oran, Tunis, Tizi Ouzou, Algiers).^[29][32]

Distribution of E-M81 in select areas of Africa, Asia and Europe

In this key area from Egypt to the Atlantic Ocean, Arredi et al. 2004 report a pattern of decreasing STR haplotype variation (implying greater lineage age in those areas) 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 El-Hayez in the Western desert in Egypt. Arredi et al. 2004 believe the pattern of distribution and variance to be consistent with the hypothesis of a post Paleolithic "demic diffusion" from the East. The ancestral lineage of E-M81 in their hypothesis could have been linked with the spread of Neolithic food-producing technologies from the Fertile Crescent via the Nile, although pastoralism rather than agriculture. E-M81 may also have been carried into its currently most common region together with a form of proto-Afroasiatic. On the basis of these possible links, the men who brought E-M81 into northwestern Africa may therefore have come from Asia, or they may represent a "local contribution to the North African Neolithic transition". But there is no autochthonous presence of E-M81 in the Near East, 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.^[13] In Europe, E-M81 is widespread but rare, except in the Iberian Peninsula Spain, where unlike in the rest of Europe^{[Note 6]} it is found at comparable levels to E-M78, with an average frequency of around 5%, and in some regions it is more common. Its frequencies are higher in the western half of the peninsula with frequencies reaching 8% in Extremadura and South Portugal, 9% in Galicia, 14% in Western Andalusia and 10% in Northwest Castile and 9% to 17% in Cantabria.^{[17][33][34][35][36]} The highest frequencies of this clade found so far in Europe were observed in the Pasiegos from Cantabria, ranging from 18% (8/45)^[36] to 41% (23/56).^[2] 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%).^[37] E-M81 is also found in France,^[2] 2.70% (15/555) overall with frequencies surpassing 5% in Auvergne (5/89) and Île-de-France (5/91),^[38][39] in Sicily (approximately 2% overall, but up to 5% in Piazza Armerina),^[40] and in very much lower frequencies in continental Italy (especially near Lucera)^[35] possibly due to ancient migrations during the Islamic, Roman, and Carthaginian empires. As a result of its old world distribution, this subclade is found throughout Latin America, for example 6.1% in Cuba,^[41] 5.4% in Brazil (Rio de Janeiro), ^{[Note 7]} and among Hispanic men from California and Hawaii 2.4%.^[42] 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 Sephardic Jews. There are two recognized subclades of E-M81, although one is much more important than the other.

E-M107

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

E-M183

E-M183 is extremely dominant within E-M81. Karafet et al. 2008 first described it as a subclade of E-M81. The known subclades of E-M183 include:

• E-M165 Underhill et al. 2000 found one example in Middle East.
• E-L351 Found in two related participants in The E-M35 Phylogeny Project.

E-Z830

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-M293, E-V42, and E-Z830*, and is a sibling clade to E-L19. Currently, 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.^{[43][44][45][46]}

E-M123

E-M123 is mostly known for its major subclade E-M34, which dominates this clade.^{[Note 8]}

E-M293

E-M293 is a subclade of E-M35. It is 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 Eastern Africa into Southern Africa. So far high levels have been found in specific isolated ethnic groups in Tanzania and Southern Africa. Highest were the Datog (43%), Khwe (Kxoe) (31%), Burunge (28%), and Sandawe (24%). Henn (2008) in their study also found two Bantu-speaking Kenyan males with the M293 mutation.^[26] 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 Ethiopian Jews. Like E-V6 and E-V92 it was suggested that it may be restricted to the region around Ethiopia. This is the third known subclade of E-Z830. Further testing done by commercial DNA testing companies showed positive results for this subclade from the Arabian Peninsula and Portugal.^[47]

E-V92

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

E-V6

The E-V6 subclade of E-M35 is defined by V6. Cruciani et al. (2004) identified a significant presence of these lineages in Ethiopia, and also some in the neighboring Somali population. Among the Ethiopian and Somali samples, the highest were 14.7% among the Ethiopian Amhara, and 16.7% among the Ethiopian Wolayta.

To the south, Tishkoff et al. (2007) identified one V6+ man in a sample of 35 Datog people 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.

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.

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.^[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.^[2] 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

Wikiquote has a collection of quotations related to: Haplogroup E-M215 (Y-DNA)

Genetics

Y-DNA E Subclades

Y-DNA backbone tree

Notes

References

Additional sources

External links

• E-M35 Phylogeny Project Wiki
• E-M35 Phylogeny Project (all labs site)
• E-M35 Phylogeny Project Public Forum
• Jewish E3b Project at FTDNA
• Map of E-M35 distribution in Europe
• Haplogroup E3B1 (E1b1b1) Facebook Group (M35 community)
• E1b1b1b*-A Project
• E1b1.org – International Y-DNA project of Haplogroup E1b1 and its Subclades