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.^[3][4][5] It is one of the major genetically distinguished paternal lines of the human race, linking from father-to-son back to a common male ancestor.

In nearly all discussion, E1b1b is equivalent to its very dominant sub-clade, E1b1b1 (E-M35), which contains nearly all of E1b1b. Cruciani et al. (2004) announced the discovery that M215 was older than M35, because that survey found that some lineages which have the M215 mutation, do not have 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^[6], North Africa^[6], parts of Eastern and Southern Africa^[1], West Asia^[1], and Europe^[7] (especially the Mediterranean and the Balkans^[1][6][8]).

E1b1b and E1b1b1 are quite common amongst populations speaking an Afro-Asiatic language. According to at least some theories on the origins of this linguistic group, such as those advanced by Christopher Ehret, Afro-Asiatic and E1b1b1 may have dispersed amongst the same populations from the same point of origin (Ehret et al. (2004)). However, this hypothesis is intensely debated.^[9]

Amongst populations with an Afro-Asiatic speaking history, a significant proportion of all Jewish male lines are made up of a wide variety of E1b1b1 (E-M35) sub-clades. Behar et al. (2003) found only haplogroup J lineages in higher numbers amongst Ashkenazim.^[10] The authors also found E1b1b to be, along with haplogroup J, one of the major founding lineages among Ashkenazi Jews.^[11] E1b1b is observed in over 22.8% of Ashkenazis^[12] and 30% of Sephardim.^[6] 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.^[13]

[edit] Other Names, and history of the classification

The current phylogenetic terminology "E1b1b" and "E1b1b1" was proposed in 2008 by Karafet et. al.^[4]. This 2008 paper was intended to be an update of the 2002 "Y Chromosome Consortium"(YCC)^[5]. The YCC first formalized the original phylogenetic nomenclature - "E3b" (E-M215) and "E3b1" (E-M35) - 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 Cruciani et al. (2004), 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^[14].

They were also within Underhill et al. (2001)'s "Group III" ^[15].

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

[edit] Origins

The ancient migrations of the major E1b1b1 (E-M35) lineages. The map seeks to show the standard theory based upon the most recent articles: Cruciani et al. (2004), Cruciani et al. (2007), Henn et al. (2008) and Hassan et al. (2008).

Concerning the origins of the E1b1b lineage, Bosch et al. (2001), Semino et al. (2004)^[16], Cruciani et al. (2004)^[17], (2006)^[18], and (2007)^[19], point to evidence that not only E1b1b (E-M215), but also both its 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.^[4] 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^[20] or E-M35.^[21]

Citing Cruciani et al. (2004), Coffman-Levy (2005) wrote that E1b1b1 (E-M35) "arose in East Africa". However, she added that this haplogroup is "often incorrectly described as “African,” leaving a misimpression regarding the origin and complex history of this haplogroup", and that such misinformation about this haplogroup also continued to pervade the public and media at least until the time of writing in 2005.^[22]

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.^[3][23]

All major sub-branches of E1b1b1 are thought to have originated in the same general area as the parent clade: in North Africa, the Horn of Africa, or the Near East. Underhill (2002) believes that the structure and regional pattern of E-M35 sub-clades potentially give "reagents with which to infer specific episodes of population histories associated with the Neolithic agricultural expansion".

[edit] Subclades of E1b1b1 (E-M35)

As mentioned above, nearly all E1b1b lineages are within E1b1b1 (defined by M35). Cruciani et al. (2004) found 2 out of 34 Ethiopian Amhara tested, to be M215 positive but M35 negative, and therefore in the paragroup "E-M215*". More recently, Cadenas et al. (2007) found one more E-M215* individual in Yemen, just across the Red Sea from the Amhara, out of 62 people tested there.

Turning to E-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* or E-M35*) 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 sub-clade of E1b1b1 is E1b1b1c (defined by M123)^[3]. It is found both in and out of Africa, but probably had a Near Eastern origin. (See below.)

The 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 who announced it 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. The first two at least appear to be unique to the Horn of Africa area.

[edit] E1b1b1a (E-M78); formerly E3b1a

The Nile River and its main tributaries: a probable corridor of ancient human migrations, including those involving the male lineages E-M35, E-M78, E-V12, and E-V22.

E1b1b1a (E-M78) is a commonly occurring subclade, widely distributed in North Africa (especially Egypt and Libya), the Horn of Africa, West Asia "up to Southern Asia"^[24], and all of Europe,^[25] The European distribution has a frequency peak centered in south Europe and southeastern Europe (13%–16% in southern Italians and 17%–27% in the Balkans) and declining frequencies evident toward western (10% in northern and central Italians), central, and eastern Europe.^[26]

This subclade is thought to have originated in North Africa (around Egypt and Libya) about 18,600 years ago (17,300 - 20,000 years ago).^[27] Battaglia et al. (2008) describe Egypt as "a hub for the distribution of the various geographically localized M78-related sub-clades".

Prior to Cruciani et al. (2007), Semino et al. (2004) had proposed the Horn of Africa as a possible place of origin of E-M78. This was because of the high frequency and diversity of E-M78 lineages in the region. For example, Sanchez et al. (2005) found that 77.6% of 201 male Somalis tested in Denmark carried the clade. 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 in the Horn of Africa were relatively recent branches (see E1b1b1a1b (E-V32) below). They note this as evidence for "a corridor for bidirectional migrations" (conceivably the Nile River Valley) between Egypt and Libya on the one hand and the Horn of 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".

Cruciani et al. (2007) also note evidence for "trans-Mediterranean migrations directly from northern Africa to Europe (mainly in the last 13.0 ky)", and flow from North Africa (around Egypt and Libya) to western Asia between 20.0 and 6.8 ky ago. While there were apparently direct migrations from North Africa to Iberia and Southern Italy (E-V12, E-V22, and E-V65), the majority of E-M78 lineages found in Europe belong to the E-V13 sub-clade which appears to have entered Europe from the Near East, where it apparently originated, via the Balkans (see below).

The division of E1b1b1a into sub-clades such as E-V12, E-V13, etc has largely been the work of Fulvio Cruciani et al. (2004, 2006, 2007), on the basis of STR studies, and more recently the discovery of SNP mutations which define most of the branches with great clarity. This is the basis of the updated phylogenies found in Karafet et al. (2008), and ISOGG, which is in turn the basis of the phylogeny given below...

[edit] E1b1b1a1 (E-V12)

This sub-clade of E-M78 is the one which appears to have split from the others first (it arose ca. 13.7-15.2 kya^[19]). According to Cruciani et al. (2007), E-V12 likely originated in North Africa, in the area of Libya and Egypt.

Undifferentiated E-V12* lineages (not E-V32 or E-M224, so therefore named "E-V12*") are found at especially high levels (44.3%) in Southern Egyptians, but also scattered widely in small amounts in both Northern Africa and Europe, but with very little sign in Western Asia, apart from Turkey^[19]. These E-V12* lineages were formerly included (along with many E-V22* lineages^[28]) 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, including 5/6 Nubians, and 5/5 Copts. E-V12* made up approximately 20% of the Sudanese E-M78. 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.^[29] The E-V12* paragroup is also observed in Europe (e.g. amongst French Basques) and Eastern Anatolia (e.g. Erzurum Turks).^[19]

Sub Clades of E1b1b1a1 (E-V12):

• E1b1b1a1a (E-M224). It has been found in Israel among Yemeni population (5%) and appears to be a minor subclade. Its discovery was announced in Underhill et al. (2001) and Cruciani et al. (2004) found 1 Yemeni exemplar. Cruciani et al. (2006) called M224 "rare and rather uninformative". Cruciani et al. also found no exemplars in their 2007 study.
• 

  

  Somali man in traditional white fez. A large majority of Somali paternal ancestry is in the E1b1b1a1b (E-V32) lineage, which originated in North Africa, around Egypt and Libya.
  E1b1b1a1b (E-V32). Cruciani et al. (2007) suggest that this sub-clade of E-V12 originated in North Africa (around Egypt and Libya), and then subsequently expanded further south into the Horn of Africa, where it is now prevalent.^[19] Before the discovery of V32, Cruciani et al. (2004) referred to the same lineages as the "gamma cluster", which was 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". Sanchez et al. (2005) found it extremely prominent in Somali men and stated that "the male Somali population is a branch of the East African population – closely related to the Oromos in Ethiopia and North Kenya (Boranas)" and that their gamma cluster lineages "probably were introduced into the Somali population 4000–5000 years ago". 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. The Beja, like Somalis and Oromos, speak an Afro-Asiatic language and live along the "corridor" from Egypt to the Horn of Africa. On the other hand, the Masalit and Fur live in Darfur and speak a Nilo-Saharan language. The authors observed in their study that "the Masalit possesses by far the highest frequency of the E-M78 and of the E-V32 haplogroup", which they believe suggests "either a recent bottleneck in the population or a proximity to the origin of the haplogroup."

[edit] E1b1b1a2 (E-V13)

The E-V13 clade is equivalent to the "alpha cluster" of E-M78 reported in Cruciani et al. (2004), and was first defined by the SNP V13 in Cruciani et al. (2006). Another SNP is known for this clade, V36, reported in Cruciani et al. (2007). All known positive tests for V13 are also positive for V36. So E-V13 is currently considered "phylogenetically equivalent" to E-V36.

Haplogroup E-V13 is the only lineage that reaches the highest frequencies out of Africa. In fact, it represents about 85% of the European E-M78 chromosomes with a clinal pattern of frequency distribution from the southern Balkan peninsula (19.6%) to western Europe (2.5%). The same haplogroup is also present at lower frequencies in Anatolia (3.8%), the Near East (2.0%), and the Caucasus (1.8%). In Africa, haplogroup E-V13 is rare, being observed only in northern Africa at a low frequency (0.9%).

– Cruciani et al. (2007)

Within Europe, E-V13 is especially common in the Balkans where high concentrations are reported amongst Albanians, ethnic Macedonians, Greeks, Bulgarians, Romanians, and Serbs.^{[1][8][26][30]} In different studies, particularly high frequencies have been observed in Kosovar Albanians (45.6%) (Peričic et al. (2005)) and Peloponnesian Greeks (47%) (Semino et al. (2004)).

Phylogenetic analysis strongly suggest that these lineages have spread through Europe, from the Balkans in a "rapid demographic expansion"^[19]. Before then, the SNP mutation, 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^[19]. The Druze are considered a genetically isolated community^[31], and are therefore of particular interest. Their STR DNA signature was actually originally classified in the delta cluster in Cruciani et al. (2004). This means that Druze E-V13 clustered together with most E-V12 and E-V22, and not with European E-V13, which was mostly in the alpha cluster.

E-V13 is also found in scattered and small amounts in Libya (in the Jewish community) and Egypt, but this is considered most likely to be a result of migration from Europe or the Near East.^[19]

Albanian man. Many Albanians are in the E1b1b1a2 (E-V13) lineage most commonly found in Europe, especially the Balkans.

E-V13 and Ancient Migrations The apparent movement of E-V13 lineages from the Near East to Europe, and their subsequent rapid expansion, make E-V13 particularly interesting subject for speculation about ancient human migrations.

Early Migration from the Middle East to 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^[32].

Cruciani et al. (2007) says there were at least four major demographic events which have been envisioned for this geographic area:

• The "post-Last Glacial Maximum expansion (about 20 kya)"
• The "Younger Dryas-Holocene reexpansion (about 12 kya)"
• The "population growth associated with the introduction of agricultural practices (about 8 kya)"
• The "development of Bronze technology (about 5kya)"

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^[6]. However, Cruciani et al. (2007) more recently 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. The authors therefore suggest that this might 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. In the next step, "the dispersion of the E-V13 and J-M12 haplogroups seems to have mainly followed the river waterways connecting the southern Balkans to north-central Europe"^[19][26].

On the other hand, Battaglia et al. (2008) and King et al. (2008) use age calculation which favor E-V13 dispersal scenarios even older than the Neolithic, in the Mesolithic. Battaglia et al. associate this migration also with the Y haplogroup I-M423.

Greek Soldiers in Pakistan: Both E-V13 and J-M12 have also been used in studies seeking to find evidence of a remaining Greek presence in Afghanistan and Pakistan, going back to the time of Alexander the Great.

An extensive analysis of Y diversity within Greeks and three Pakistani populations – the Burusho, Kalash and Pathan – who claim descent from Greek soldiers allowed us to compare Y lineages within these populations and re-evaluate their suggested Greek origins. This study as a whole seems to exclude a large Greek contribution to any Pakistani population, confirming previous observations. However, it provides strong evidence in support of the Greek origins for a small proportion of Pathans, as demonstrated by the clade E network and the low pairwise genetic distances between these two populations.

– Firasat et al. (2006)

Roman soldiers in Britain: Significant frequencies of E-V13 have also been observed in towns in Wales, England and Scotland. The old trading town of Abergele on the northern coast of Wales in particular showed 7 out of 18 local people tested were in this lineage (approximately 40%), as reported in Weale et al. (2002). Bird (2007) attributes the overall presence of E-V13 in Great Britain, especially in areas of high frequency, to settlement during the 1st through 4th centuries CE by Roman soldiers from the Balkan peninsula. Bird proposes a connection to the modern region encompassing Kosovo, southern Serbia, northern Macedonia and extreme northwestern Bulgaria (a region corresponding to the Roman province of Moesia Superior), which was identified by Peričic et al. (2005) as harboring the highest frequency worldwide of this sub-clade^[33].

However, according to data published so far^[34], E-V13 appears to be notably absent in Central England, a fact which Bird (2007) suggests reflects a genuine population replacement of Romano-British people with Anglo-Saxons:

The "E3b hole" suggests that either (a) a massive displacement of the native Romano-British population by invasion or, (b) the substantial genetic replacement of Romano-British Y-DNA through an elite dominance ("apartheid") model (Thomas, 2006), has occurred in Central England. Regardless of the mechanism, the Central England region of Britain, with its lack of E3b haplotypes, is the area having the most "striking similarity in the distribution of Y-chromosomes" with Friesland Thomas et al. (2006).

– Bird (2007)

Phoenician Traders in the Mediterranean: Zalloua et al. (2008) have also suggested E1b1b haplotypes (amongst others) to be a sign of Phoenician influence around the Mediterranean^[35].

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. These are one of two cases where Karafet et al. (2008) remarked that at the time of that article, it was not certain that the two clades were truly separate ("the positions of these mutations have not been resolved because of a lack of a DNA sample containing the derived state at V27").

• E1b1b1a2a. Defined by V27. Cruciani et al. (2007) found one case in Sicily.
• E1b1b1a2b. Defined by P65.

[edit] E1b1b1a3 (E-V22)

This clade comprises most of those classified in the "delta cluster" of Cruciani et al. (2004). Cruciani et al. (2006) later noted that "E-V22 and E-V12* chromosomes are intermingled and not clearly differentiated by their microsatellite haplotypes".

This sub-clade of E-M78 is "relatively common"^[19] in the Horn of Africa and Egypt, with higher microsatellite variance (0.35 vs. 0.46, respectively) in Egypt. In the article announcing this first information, Cruciani et al. (2007) described it as uncommon in Western Asia and they proposed Northeast Africa as this sub-clade's likely place of origin. Hassan et al. (2008) also reported a significant presence in neighboring Sudan, making up about 30% of the diverse range of the country's E-M78 lineages in their study, including 8 out of 26 Fulani (about 31%), a widely-dispersed pastoral people^[36]. E-V22 was also present in much smaller frequencies amongst the Shilluk (2 of 15 samples, 13%) and Dinka (3 of 26, 8%) Nilotes of Southern Sudan. Hassan et al. suggest that E-V22, like E-V12, might have entered Sudan from North Africa "after the progressive desertification of the Sahara around 6,000–8,000 years ago". They add that the gene flow to Sudan "is not only recent (Holocene onward) but also largely of focal nature", and that "most speakers of Nilo-Saharan languages, the major linguistic family spoken in the country, show very little evidence of gene flow and demonstrate low migration rate, with exception of the Nubians, who appear to have sustained considerable gene flow from Asia and Europe together with the Beja."

Other frequencies reported by Cruciani et al. (2007) include Asturians (4.44% out of 90 people), Sicilians (4.58% out of 153 people), Moroccan Arabs (7.27%, 55 people) and Moroccan Jews (8%, 50 people), Istanbul Turkish (5.71% out of 35 people), and Palestinians (6.9% out of 29 people). Cadenas et al. (2007) found a 6.7% presence in the UAE.

Sub Clades of E1b1b1a3 (E-V22): There are two recognized sub-clades, which are apparently separate, although Karafet (2008) remarked that at the time of that article, "the positions of these mutations have not been resolved because of a lack of a DNA sample containing the derived state at [...] V19".

• E1b1b1a3a. Defined by M148. Underhill et al. (2000) found 1 example in the Indian subcontinent. Cruciani et al. (2006) calls M148 "rare and rather uninformative".
• E1b1b1a3b. Defined by V19. Cruciani et al. (2007) found 2 exemplars in Sardinia.

[edit] 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. In Europe, only a few individuals were found in Italy and Greece.

[edit] E1b1b1a5 (E-VM521)

This sub-clade's discovery was announced in Battaglia et al. (2008) They found 2 out of 92 Greeks to have this mutation.

[edit] E1b1b1b (E-M81); formerly E3b1b, E3b2

Berber man. E1b1b1b (E-M81) is the most common Y haplogroup among North African Arabs and Berbers

E1b1b1b (E-M81) is the most common Y chromosome haplogroup in North Africa, dominated by its sub-clade E-M183. It is thought to have originated in North Africa 5,600 years ago.^[37][1] 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 includes the Saharawish for whose men Bosch et al. (2001) reports that approximately 76% are M81+.

This haplogroup is also found in significant amounts in the Iberian Peninsula ^[38], Italy and France^[1], probably due to ancient migrations during the Islamic, Roman, and Carthaginian empires, as well as the influence of Sephardic Jews.^[39] In Iberia generally it is more common than E1b1b1a (E-M78)^[40], unlike in the rest of Europe, and as a result this E-M81 is found throughout Latin America^[41] and among Hispanic men in USA^[42]. As an exceptional case in Europe, this sub-clade of E1b1b1 has also been observed at 40% the Pasiegos from Cantabria.^[1]

In smaller numbers, E-M81 men can be found in Sudan, Lebanon, Turkey, and amongst Sephardic Jews.

There are two recognized sub-clades, although one is much more important than the other.

Sub Clades of E1b1b1b (E-M81):

• E1b1b1b1 (E-M107). Underhill et al. (2000) found one example in Mali.
• E1b1b1b2 (E-M183). Individuals with the defining marker for this clade, M81, also test positive, in tests so far, for M183. As of 23rd October 2008, the SNP M165 is currently considered to define a subclade, "E1b1b1b2a"^[3].

[edit] E1b1b1c (E-M123); formerly E3b1c, E3b3

Jewish man seated. The E1b1b1c (E-M123) accounts for over 10% of all Jewish male lines.

This sub-clade of E1b1b1 (E-M35) is mostly known for its major sub-clade E1b1b1c1 (E-M34), which dominates this clade^[43]. However, earlier studies did not test for E-M34.

Concerning E-M123* (tested and definitely without E-M34) Cruciani et al. (2004) located one individual in Bulgaria after testing 3401 individuals from five continents, and Underhill et al. (2000) located one individual in Central Asia. In a 568 person study in Iberia, Flores et al. (2004) found 2 E-M123* individuals, both in Northern Portugal out of 109 people tested there. In a 553 person study of Portugal, Gonçalves et al. (2005) also found 2 E-M123* individuals in Northern Portugal, out of 101 people, as well as 2 in Madeira out of 129 people tested there. Flores et al. (2005) found one individual out of 146 Jordanians. Cadenas et al (2007) found none amongst the significant presence of E-M34 they found in their study of the UAE, Yemen and Qatar.

Concerning E-M123 without checking for the M-34 SNP, Bosch et al. (2006) found E-M123 examples in Greece, the Republic of Macedonia, and Roumania. Beleza et al. (2006) also found examples in Portugal, and Sanchez et al. (2005) found one sample in Somalia. Semino et al. (2004) reports relatively high levels of 13% in the Albanian community of Cosenza, in Calabria. A notably high regional frequency for E-M123 was in Oman, where it is apparently the dominant clade of E-M35. Luis et al. (2004) found 12 men out of 121 there were E-M123 positive, while in Egypt there were 7 out of 147. But in that study the Omani E-M123 diversity implied a younger age than the E-M123 found in Egypt. (Cruciani (2004) tested for E-M34 in Oman and found 7.7% to be E-M34+, with no E-M123*.) Shen et al. (2004) found 4 out of 20 tested Israeli Jews of Libyan ancestry to be M123+.

Concerning E1b1b1c1 (E-M34), according to Cruciani (2004), E-M34 is found at small frequencies in North Africa and Southern Europe (6.6% in Sicily for example), and has its highest concentration in Ethiopia and the Near East (with highest levels in Oman and Turkey). However, because the diversity is apparently low in Ethiopia, the authors suggest that E-M34 was likely introduced into Ethiopia from the Near East. In Turkey, Cinnioğlu et al. (2004) found slightly more E-M34 (29) than E-M78 (26) out of 523 individuals tested (a far different E1b1b population than found in the nearby Balkans). In Flores et al. (2004) E-M34 was found in several parts of Iberia, but most strikingly about 10% in Galicia. Gonçalves et al. (2005) found about the same levels of E-M34 in Portugal as E-M123*, but E-M34 mainly in Central Portugal (4 people out of 102 tested there) with one more person found in the Açores. Strikingly, Flores et al. (2005) found 14 out of 45 men tested in the Dead Sea area of Jordan to be M34 positive (31.1%), while in the capital Amman there were only 4 out of 101. Cadenas et al. (2007) found 8.1% of 62 men tested in Yemen were positive for M34, compared to much lower levels in Qatar (1.4%) and the UAE (3.1%).

E-M123 in Jews. Looking beyond simple regional concentrations, E1b1b1c (E-M123) is also quite common among both Ashkenazi and Sephardic Jews, accounting for over 10% of all male lines.^[44] 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 E1b1b1c1 (E-M34):

• E1b1b1c1a. Defined by SNP mutation M84, with M136 defining a sub-clade, E1b1b1c1a1 as of October 2008^[3].
• E1b1b1c1b. Defined by SNP mutation M290. Shen et al. (2004) found 1 Palestinian exemplar.

[edit] E1b1b1d (E-M281)

The discovery of the SNP mutation which defines this sub-clade of E-M35, M281, was announced Semino et al. (2002), who found it in two Ethiopian Oromo, but Cruciani et al. (2004) found no examples.

[edit] E1b1b1e (E-V6)

This sub-clade of E-M35 is defined by V6. Cruciani et al. (2004) (Table 1) identified a significant presence of these lineages in Ethiopia, and also some in the neighboring Somali population. Amongst the Ethiopian and Somali samples, the highest were 14.7% amongst the Ethiopian Amhara, and 16.7% amongst the Ethiopian Wolayta. One man in Kenya was also observed with the V6 mutation.

[edit] 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.

[edit] E1b1b1g (E-M293)

This sub-clade of E-M35 was announced in Henn et al. (2008), which associated it with the spread of pastoralism from Eastern Africa into Southern Africa. So far high levels have been found in specific ethnic groups in Tanzania and Southern Africa. Highest were the Datog (43%), Khwe (Kxoe) (31%), Burunge (28%), and Sandawe (24%). Henn et al. (2008) in their study also found two Bantu-speaking Kenyan males with the M293 mutation.^[45]

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 Henn et al. 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 had become the new YCC and ISOGG name for former 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 phylogenetic clade name came to be E1b1b1g in late October 2008^[46].

[edit] Famous E1b1b members

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[edit] William Harvey

William Harvey - E1b1b1c1a (E-M84), a sub-clade of E-M34

William Harvey was an English physician and Enlightenment scientist, born at Folkestone 1 April, 1578, and died without issue in 1657.

He is most noted as the discoverer of the systemic circulation of blood, at least in the Western world

Although he died without issue, William Harvey's great great grandfather Humphrey had three sons. A descendant of Humphrey Harvey's third son (Turner Harvey b 1485) has been SNP tested as E1b1b1c1a (M84+), which is relatively unusual. His haplotype can be seen on Ysearch and he is a member of the Harvey Y-DNA Genetic Project. According to him...

Extensive research on the above line was done by Oscar Jewell Harvey in the latter part of the 19th century capped with his "Harvey Book" published in the US in 1899. He was a lawyer from MA and spent considerable time in England tracing his Harvey roots back to a Humphrey Harvey b. 1459 - Kent, England. Oscar J Harvey's research carried forward his line of descent for two brothers who arrived in Dorchester, Mass in 1636. William Harvey was b. 1614 and Thomas Harvey was b. 1617. Oscar J Harvey [...] carried older brother William Harvey's line forward to the birth, marriage, progeny and death of Zachariah Harvey b. 1711-d. 1801.

Several branches of descendants of Zachariah have been confirmed as having the same E1b1b male line.

Their above-mentioned ancestor Turner Harvey, b. 1485, son of Humphrey Harvey b. 1459, in Kent, was a highly regarded English soldier under Henry VIII. The family is thought to have come to England from Brittany with the Norman invaders of 1066.

Orville Wright - E1b1b1a2 (V13)

[edit] The Wright Brothers

The Wright Brothers were two Americans who are generally credited^[47][48][49] with inventing and building the world's first successful airplane and making the first controlled, powered and sustained heavier-than-air human flight on 17 December 1903.

They belonged to Y-DNA haplogroup E1b1b1a2 E-V13, and are descended from Robert Wright of Brook Hall^[50].

The family participates in the Wright surname DNA Project.

[edit] John C Calhoun and the old line of the Clan Colquhoun

Vice President John C Calhoun, descended from a Scottish clan, was in haplogroup E-V13.

John Caldwell Calhoun (March 18, 1782 – March 31, 1850) was a South Carolina politician and one of the most famous Vice Presidents of US history. He was one of the best known defenders of strong States' rights and limited government, versus Federalism, before, during and after the Nullification Crisis. He is also remembered as an apologist for American slavery, which he claimed was a better way of life than being in the working class in Europe. His arguments are seen as forerunners to the eventual outbreak of the American Civil War, which started some ten years after his death.

Calhoun's South Carolina family are a branch of a large and well-studied Scots-Irish clan, with many well known American members. The surname Calhoun is a recognized variant of Colquhoun, and John C Calhoun's family has been traced back via Northern Ireland to the old main line of that Scottish family^[51], descending back to Humphrey of Kilpatrick, who first took up the surname in the 13th century. The clear majority of Colquhoun-related surnames tested so far in their DNA Project are E-V13, including male lines stemming from the same line as John C Calhoun. (The modern Colquhoun chiefs are actually in a newer male line founded after the chiefdom was passed down to a son-in-law via a daughter.)

[edit] The Hatfield Family

The Hatfield clan in 1897.

The Hatfield's are famous in American folk history and culture for their feud with the McCoys, the Hatfield-McCoy feud. Their male line traces back to Ephraim Hatfield.

Ysearch user 3AC8Z is a descendant, and the family participates in the Hatfield DNA surname project. (Kit number 79827 is decended from Ephraim Hatfield.)

[edit] The Savard Hockey Dynasty in Quebec

According to information posted to the E-M35 Phylogeny Project by Denis Savard, administrator of the Savard DNA Project and moderator of the E-M35 project, the Canadian hockey players Denis Savard and Serge Savard have a common ancestor with three Savard DNA testees. The three Savard testees, members of the Savard DNA Project, descend from three different sons of Joseph-Simon Savard.

[edit] See also

• Y-DNA haplogroups by ethnic groups
• Human Y-chromosome DNA haplogroup
• Haplogroup E (Y-DNA)
• Haplogroup D (Y-DNA)
• Haplogroup DE (Y-DNA)
• * (haplogroup)
• molecular phylogeny
• genetic genealogy

[edit] Notes