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Haplogroup E1b1b (Y-DNA)

In human genetics, Y Haplogroup E1b1b (E-M215) is a Y-chromosome haplogroup, a sub-group of haplogroup E, which is defined by the single nucleotide polymorphism (SNP) mutation M215.

In nearly all discussion, E1b1b is equivalent to it's sub-clade, E1b1b1 (E-M35), which contains nearly all of E1b1b. It was only in Cruciani et. al.'s 2004 article that M215 was shown to be older than M35, because there are some lineages which have the M215 mutation, but not M35. On that basis this article covers both clades, but is named after the slightly larger one.

As discussed in more detail below, E1b1b is presently found in various forms in the Horn of Africa, North Africa, parts of Eastern and Southern Africa, West Asia, and Europe (especially the Mediterranean and the Balkans).

A significant proportion of all types of Jewish male lines are made up of an interestingly wide variety of E1b1b1 (E-M35) sub-clades. Behar et al. (2003) found only haplogroup J lineages in higher numbers amongst Ashkenazim. The authors also found E1b1b to be, along with haplogroup J, one of the major founding lineages among Ashkenazi Jews. E1b1b is observed in over 22.8% of Ashkenazis and 30% of Sephardim. The variety of sub-clades is felt by many researchers to be a potential lead in seeking a better understanding of Jewish population movements over the centuries.

Other Names, and history of the classification

The current phylogenetic terminology "E1b1b" and "E1b1b1" was proposed in 2008 by Karafet et. al.. This 2008 paper was intended to be an update of the 2002 "Y Chromosome Consortium"(YCC). The YCC first formalized the original phylogenetic nomenclature - "E3b" and "E3b1" - which is still found widely especially in older literature.

It was also the 2002 consortium which proposed guidelines on the mutation nomenclature, "E-M215" and "E-M35". The mutation-based clade names have increasingly been used since then because they avoid the confusion which comes from the increasingly frequent discoveries of new SNP mutations - for example when older and newer literature is being compared.

Prior to 2002, both E1b1b and E1b1b1, not yet distinguished at that time, had been referred to as Hg21 (Haplogroup 21) within Zerjal et al. (1999)'s nomenclature, or as Eu4 according to Semino et al. (2000)'s classification.

They were also within Underhill et al. (2001)'s "Group III" .

Other older names are referred to in the YCC 2002 report in the referenced articles, but are less common in the literature.

Origins

Concerning the origins of the E1b1b lineage, Bosch et al. (2001), Semino et al. (2004), Cruciani et al. (2004, 2006, and 2007), point to evidence that not only E1b1b (E-M215), but also both it's parent lineage E1b1 (E-P2), and its dominant sub-clade E1b1b1 (E-M35) probably all first appeared in East Africa between 20,000 and 47,500 years ago. There are different techniques available for such estimates, and a considerable range of possibilities, but the most recent estimates of Cruciani et al. (2007) are around 24,000 years ago for E-M215 or E-M35.

However, according to Coffman (2005), E1b1b is "often incorrectly described as “African,” leaving a misimpression regarding the origin and complex history of this haplogroup". A lot of misinformation about this haplogroup also continues to pervade the public and media.

According to the International Society of Genetic Genealogy (ISOGG) and National Geographic's Genographic Project, E1b1b1 may have arisen instead in the Near East or the Middle East and then expanded into the Mediterranean with the spread of agriculture.

As E1b1b1 dispersed, most major sub-branches of E1b1b1 are thought to have originated in North Africa, the Horn of Africa, and Western Asia.

Subclades of E1b1b1 (E-M35)

As mentioned above, nearly all E1b1b lineages are within E1b1b1 (defined by M35).

The most current phylogeny of E1b1b1 includes the individuals with no known sub-clade mutations (who are therefore said to be in the "ancestral state" referred to as E1b1b1*) plus seven known "derived" branches, which are defined by the following SNPs: M78, M81, M123, M281, V6, P72, and M293, all of which are discussed below.

The two most written-about sub-clades of E1b1b1 are E1b1b1a (defined by M78) and E1b1b1b (defined by M81), both are associated with the Mediterranean. They are thought to represent the two sub-clades with the largest populations within E1b1b. E1b1b1a is by far the most common sub-clade of E1b1b in Europe and generally outside of Africa. It is also common in the Near East. And together, E1b1b1a (E-M78) and E1b1b1b (E-M81) form a very significant part of all male lineages in Northeast and North Africa.

A third very significant, but still less well-known, sub-clade of E1b1b1 is E1b1b1c (defined by M123).

A fourth major sub-clade of E1b1b1 to be announced (Henn et al. 2008) is defined by M293, an SNP or polymorphism that has been found in parts of Eastern and Southern Africa, and is thought by the authors to include the majority of E-M35 lineages in sub-Saharan Africa which do not have the mutations M78, M81 or M123.

Smaller E1b1b1 sub-clades recognized are defined by the SNP mutations M281, V6, and P72.

E1b1b1a (E-M78); formerly E3b1a

Estimations of age are difficult and vary greatly, but E-M78's age has been estimated at about 18,600 years ago. This clade is thought to have originated in Northeast Africa, around Egypt and Libya (Cruciani et al. 2007). The most recent estimates are as follows:

The geographic and quantitative analyses of haplogroup and microsatellite diversity is strongly suggestive of a northeastern African origin of E-M78, with a corridor for bidirectional migrations between northeastern and eastern Africa (at least 2 episodes between 23.9–17.3 ky and 18.0–5.9 ky ago), trans-Mediterranean migrations directly from northern Africa to Europe (mainly in the last 13.0 ky), and flow from northeastern Africa to western Asia between 20.0 and 6.8 ky ago. (Cruciani et. al. 2007)

It should be noted that the migrations to Europe mentioned above are the ones which are basically localized to Iberia and Southern Italy. Concerning the far more important part of E-M78 in Europe, see below concerning sub-clade E-V13.

E1b1b1a has been further divided into subclades by Fulvio Cruciani et al. (2004, 2006, 2007), on the basis of the following SNP mutations, and this is the basis of the updated phylogenies found in Karafet 2008, and ISOGG, as follows...

E1b1b1a1 (E-V12)

This is the oldest sub-clade of E-M78, found mainly in Southern Egyptians (arose ca. 15.2 kya). According to Cruciani et al. (2007), this lineage likely originated in North Africa. Lineages with this SNP mutation, but without any of the known sub-clade mutations such as V32 (so "V12*"), were formerly included in Cruciani et al.'s original (2004) "delta cluster", which he had defined using DYS profiles. With the discovery of the defining SNP, Cruciani et al. (2007) reported that V-12* was found in its highest concentrations in Egypt, especially Southern Egypt. Hassan et al. (2008) report a significant presence of E-V12* in neighboring Sudan. They propose that the E-V12 and E-V22 sub-clades of E1b1b1a (E-M78) might have been brought to Sudan from their place of origin in North Africa after the progressive desertification of the Sahara around 6,000–8,000 years ago. Sudden climate change might have forced several Neolithic cultures/people to migrate northward to the Mediterranean and southward to the Sahel and the Nile Valley. The E-V12* paragroup is also observed in Europe (e.g. amongst French Basques) and Eastern Anatolia (e.g. Erzurum Turks).

Sub Clades of E1b1b1a1 (E-V12):

*E1b1b1a1a (E-M224). This clade is apparently rare. It is discussed in Underhill et al. (2000, 2001); Cruciani et al. (2006). Cruciani et al. found no exemplars in their 2007 study.

*E1b1b1a1b (E-V32). This is a sub-clade of V12. Cruciani et al. (2007) suggest it originated in North Africa. It is prevalent in the Horn of Africa among Somalis, Ethiopians, and Eritreans. Before the discovery of V32, Cruciani et al. (2004) referred to the same lineages as the "gamma cluster", which is estimated to have arisen about 8,500 years ago. They stated that "the highest frequencies in the three Cushitic-speaking groups: the Borana from Kenya (71.4%), the Oromo from Ethiopia (32.0%), and the Somali (52.2%). Outside of eastern Africa, it was found only in two subjects from Egypt (3.6%) and in one Arab from Morocco". Hassan et al. (2008) in their study observed this to be the most common of the sub-clades of E-M78 found in Sudan, especially among the Beja, Masalit, and Fur.

E1b1b1a2 (E-V13)

(All known positive tests are also positive for V36. So V13 is currently considered "phylogenetically equivalent" to V13.)

E1b1b is common throughout Europe. Its E1b1b1a2 (E-V13) sub-clade is the most prevalent clade of E-M78 among Europeans, especially in the Balkans where high concentrations are reported amongst Albanians, Macedonians, Greeks, Bulgarians, Romanians, and Serbs. Particularly high frequencies have been observed in Kosovar Albanians (45.6%) and Peloponnesian Greeks (47%).

The V13 clade is equivalent to Cruciani et al's (2004) "alpha cluster" and phylogenetic analysis strongly suggest that these lineages have spread through Europe, from the Balkans.

V13 apparently first arose in West Asia around 10 thousand years ago, and although not widespread there, it is for example found in high levels (>10% of the male population) in Turkish Cypriot and Druze Arab lineages - with the latter being considered a genetically isolated community, and therefore of particular interest. It is also found in scattered and small amounts in Libya (in the Jewish community) and Egypt.

The distribution and diversity of V13 were thought to be suggestive that it was brought to the Balkans along with early farming technologies, during the Neolithic expansion. However Cruciani et al. (2007) suggests that the timing for dispersal of European V13 from the Balkans to the rest of Europe may be much more recent, indeed no earlier than 5300 years ago. He suggests that this might therefore have been associated with an in situ population increase in the Balkans associated with the Balkan Bronze age, rather than an actual migratory movement of peoples from western Asia. It then spread to Europe vie trade routes along the rivers of SouthEastern Europe.

The haplogroup J2b (J-M12) is frequently also discussed in connection to V13, as a haplogroup with a seemingly very similar distribution and pre-history. See especially Cruciani et al. (2007).

Sub Clades of E1b1b1a2 (E-V13): Although most E-V13 individuals do not show any downstream SNP mutations, and are therefore categorized as E1b1b1a2* (E-V13*) there are two recognized sub-clades, both of which may be very small:

*E1b1b1a2a. Defined by V27.

*E1b1b1a2b. Defined by P65.

E1b1b1a3 (E-V22)

This sub-clade of E-M78 is prevalent in the Horn of Africa and Egypt, with higher microsatellite variance (0.35 vs. 0.46, respectively) in Egypt. Cruciani et al. (2007) propose Northeast Africa as this sub-clade's likely place of origin. Hassan et al. (2008) also reported a significant presence in neighboring Sudan. This clade comprises most of those classified in Cruciani et al's earlier (2004) "delta cluster".

Sub Clades of E1b1b1a3 (E-V22): There are two recognized sub-clades:

*E1b1b1a3a. Defined by M148.

*E1b1b1a3b. Defined by V19.

E1b1b1a4 (E-V65)

This sub-clade, equivalent to the previously classified "beta cluster", is found in high levels in the Maghreb regions of far northern Africa. Cruciani et al. (2007) report levels of about 20% amongst Libyan Arab lineages, and about 30% amongst Morrocan Arabs. It appears to be less common amongst Berbers, but still present in levels of >10%. The authors suggest a North African origin for this lineage.

E1b1b1b (E-M81); formerly E3b1b, E3b2

E1b1b1b (E-M81) is the most common Y chromosome haplogroup in North Africa. It is thought to have originated in North Africa 5,600 years ago. Colloquially referred to as the "Berber marker" for its prevalence among Mozabite, Moyen Atlas, Kabyle and other Amazigh groups, E-M81 is also quite common among North African Arab groups. It reaches frequencies of up to 80% in the Maghreb.

This haplogroup is also found in significant amounts in the Iberian Peninsula, Italy and France, probably due to ancient migrations during the Islamic, Roman, and Carthaginian empires, as well as the influence of Sephardic Jews. This sub-clade of E1b1b has also been observed in 40% of Europeans in the Pasiegos from Cantabria.

Individuals with the defining marker for this clade, M81, also test positive, in tests so far, for M183.

There are two recognized sub-clades, although at this time it seems that the majority of E-M81 is "E-M81*", meaning that they are not in any of the known sub-clades.

Sub Clades of E1b1b1b (E-M81):

*E1b1b1b1 (E-M107).

*E1b1b1b2 (E-M165).

E1b1b1c (E-M123); formerly E3b1c, E3b3

This sub-clade of E1b1b1 (E-M35) is mostly known for its major sub-clade E1b1b1c1 (E-M34). According to Cruciani et al. (2004), E-M34 is found at very small frequencies in North Africa and southeastern Europe, and has its highest concentration in Ethiopia and the Near East. However, because the diversity is apparently low in Ethiopia, the authors suggest that E-M34 was likely introduced into Ethiopia from the Near East. This article located one E-M123* individual in Bulgaria after testing 3401 individuals from five continents, and Underhill et al. (2000) located one individual in Central Asia. Bosch (2006) found examples in Greece, Macedonia, and Roumania. Beleza (2006) also found examples in Portugal.

E1b1b1c (E-M123) is quite common among both Ashkenazi and Sephardic Jews, accounting for over 10% of all male lines. Coffman-Levy (2005) wrote that:

...the best candidate for possible E3b Israelite ancestry among Jews is E-M123. This sub-clade occurs in almost the same proportions (approximately 10-12%) among both Ashkenazim and Sephardim (Semino et al. 2004). According to Cruciani (2004), E-M123 probably originated in the Middle East, since it is found in a large majority of the populations from that area, and then back migrated to Ethiopia. He further notes that this sub-clade may have been spread to Europe during the Neolithic agricultural expansion out of the Middle East. However, because E-M123 is also found in low percentages (1-3%) in many southern European and Balkan populations, its origin among Jewish groups remains uncertain (Semino et al. 2004). Yet the fact that both Sephardim and Ashkenazim possess this sub-clade in similar high frequency supports an Israelite/Middle Eastern origin.

Sub Clades of E1b1b1c (E-M123):

*E1b1b1c1a. Defined by SNP mutations M84 and M136

*E1b1b1c1b. Defined by SNP mutation M290

E1b1b1d (E-M281)

The SNP mutation which defines this sub-clade of E-M35, M281, was discussed in Underhill et al. (2000) and Semino et al. (2002), but Cruciani et al. (2004) found no examples.

E1b1b1e (E-V6)

This sub-clade of E-M35 is defined by V6. Cruciani et al (2004) identified a significant presence of these lineages in Ethiopia, but apparently not elsewhere.

E1b1b1f (E-P72)

Appears in Karafet et al. (2008). Little has been published about this sub-clade of E-M35. Note also the potential for name confusion with E-M293 below.

E-M293

This sub-clade of E-M35 is associated by Henn et al. (2008) with the spread of pastoralism from Eastern Africa into Southern Africa. Other E1b1b sub-clades 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*(former) samples further north".

The authors referred to this sub-clade with the proposed name E3b1f. However, this name was already out of date by the time the article was published since E1b1b1 is the new name for E3b1, the clade defined by SNP M35. The sub-clade under E1b1b1 with the suffix "f" had also already been proposed in Karafet et al. (2008) for SNP P72 (see above). So the up-to-date phylogenetic clade name is in doubt for the time being.