Haplogroup E1b1b (Y-DNA)

In human genetics, Y Haplogroup E1b1b (E-M215) previously known as E3b (or "haplotype V"^[4]) is one of the major paternal lines of humanity, linking from father-to-son back to a common male ancestor. In other words it is a major Y-chromosome haplogroup, a sub-group of the macro haplogroup E, which is defined by the single nucleotide polymorphism (SNP) mutation M215.^[5][6][7] It is a subject of discussion and study in genetics as well as genetic genealogy, archaeology, and historical linguistics.

Current and previous names

E1b1b 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.^[6] 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][7] 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.^[7]

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. E1b1b (E-M215) and its dominant sub-clade E1b1b1 (E-M35) are believed to have first appeared in East Africa about 22,400 years ago.^{[1][Note 1]}

All major sub-branches of E1b1b1 are thought to have originated in the same general area as the parent clade: in North Africa, East Africa, or nearby areas of the Near East. Some branches of E1b1b1 left Africa many thousands of years ago. For example Battaglia et al. (2007) estimated that uniquely E-M78 ("E1b1b1a1" in that paper) has been alone in Europe longer than 10,000 years.

Nevertheless, E1b1b1 represents a more recent movement 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 sub-clades 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 and Kivisild (2007) have remarked that E1b1b seems to represent a late-Pleistocene migration from North Africa to Europe over the Sinai Peninsula in Egypt.^{[Note 2]}

Distribution

E1b1b is distributed as far south as South Africa, and northwards into North Africa, from where it has in more recent millennia expanded to Europe and Asia.^[2] E1b1b1 (E-M35) is the predominant subclade of E1b1b, representing almost exactly the same population. M215 was found to be older than M35 when individuals were found who have the M215 mutation, but do not have M35 mutation.^[2]

The E1b1b clade is presently found in various forms in the Horn of Africa, North Africa, parts of Eastern, Western, and Southern Africa, West Asia, and Europe (especially the Mediterranean Spain and the Balkans).^{[2][3][10][11]}

E1b1b and E1b1b1 are quite common amongst Afro-Asiatic speakers. The linguistic group and carriers of E1b1b1 lineage have a high probability to have arisen and dispersed together from the region of origin of this language family.^[12][13][14] Amongst populations with an Afro-Asiatic speaking history, a significant proportion of Jewish male lineages are E1b1b1 (E-M35).^[15] Haplogroup E1b1b1, which accounts for approximately 18%^[3] to 20%^[16][17] of Ashkenazi and 8.6%^[18] to 30%^[3] of Sephardi Y-chromosomes, appears to be one of the major founding lineages of the Jewish population.^{[19][Note 3]}

Subclades of E1b1b (E-M215)

A large majority of E1b1b lineages are within E1b1b1 (defined by M35). Exceptions discovered so far are M215 positive/M35 negative ("E-M215*") cases found in two Amharic Ethiopians and 1 Yemeni.^[2][20] At least some of these men, perhaps all, are known since early 2011 to be in a rare sibling clade to E-M35, E-V16/E-M281 (E1b1b2).^[21] 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 was discovered as described above.

The E-M215 derivative, E1b1b1 (E-M35) is defined by the M35 SNP. E-M35 includes individuals with the "ancestral state" (no known sub-clade forming mutations). These are referred to as E1b1b1* or E-M35*. As of 2011, there are seven known branches that have resulted from different mutations on M35: V68, V257, M123, V6, M293, V42 and V92. In order to show what is known of their relationships to E1b1b1 and other related clades, these are also currently referred to as E1b1b1a to E1b1b1g, respectively (see image). The more frequently described sub-clades are E1b1b1a (especially its more well-known sub-clade E-M78) and E1b1b1b (especially it well-known sub-clade E-M81). Both are found in Mediterranean Iberia & West Asian peoples. These two sub-clades represent the largest proportion of E1b1b. E1b1b1a is found over most of the range where E1b1b is found excluding Southern Africa. E1b1b1b is found mainly in the Maghreb. E1b1b1c is less common but widely scattered, with significant populations in specific parts of the Horn of Africa, the Levant, Arabia, Iberia, and Anatolia. E1b1b1e is a fourth major sub-clade that has been found in parts of Eastern and Southern Africa, includes the majority of unique E1b1b1 lineages in sub-Saharan Africa (those that lack M78, M81, or M123 mutations).^[8] Three smaller sub-clades are defined by mutations V6, V42 and V92 appear to be unique to the Horn of Africa region.

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 (2011)

E1b1b1a (E-V68)

E1b1b1a (E-V68), is dominated by its longer-known sub-clade E-M78 (E1b1b1a1). 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 its discovery. 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.

E1b1b1a1 (E-M78) is a commonly occurring sub-clade, 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.^[22] The European distribution has a frequency peak centered in parts of the Balkans (up to almost 50% in some areas)^[3][23] and Sicily, and declining frequencies evident toward western, central, and northeastern Europe.

Based on genetic STR variance data, Cruciani et al. (2007) suggests that E1b1b1a1 originated in "Northeastern Africa", which in their study refers specifically to 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 sub-clades" and, based on archaeological data, they propose that the point of origin of E-M78 (as opposed to later dispersals 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 onwards 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-22, "might have been brought to Sudan from North Africa after the progressive desertification of the Sahara around 6,000-8,000 years ago".

Sub Clades of E1b1b1a1 (E-M78)

There are four recognized sub-clades, which were mostly defined by Cruciani et al. (2006).

• E1b1b1a1a (E-V12). Found in Egypt, Sudan, and other places. Has an important sub-clade E1b1b1a1a2 (E-V32) which is very common amongst Ethiopian Oromo, Borana Oromo from Kenya and Somalis.
• E1b1b1a1b (E-V13). This is the most common type of E1b1b found in Europe and is especially common in the Balkans.
• E1b1b1a1c (E-V22). Found in Egypt, the Middle East and other places.
• E1b1b1a1d (E-V65). Associated with the Maghreb, but also found in Italy and Spain.
• E1b1b1a1e (E-M521). Found in two individuals in Greece by Battaglia et al. (2008)

E1b1b1b (E-L19/V257)

E1b1b1b is dominated by its dominant sub-clade E1b1b1b1 (E-M81) which was discovered first, and has been more discussed in published literature. V257's discovery was announced in Trombetta et al. (2011). The authors felt that it showed a parallel with its sibling clade E-V68 (above) in the way that both clades show signs of having migrated from Africa to southwestern Europe across the Mediterranean sea. They found 6 "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.

E1b1b1b1 (E-M81), formerly E1b1b1b, E3b1b, and E3b2, is the most common Y chromosome haplogroup in the Maghreb, dominated by its sub-clade E-M183. It is thought to have originated in the area of North Africa 5,600 years ago.^[2][24] 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.^[24][25][26] 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 the Maghreb (Oran, Tunis, Tizi Ouzou, Algiers).^[27]

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 and possibly proto-Afroasiatic language may have been carried either all the way from Asia, or they may represent a "local contribution to the North African Neolithic transition". According to Shomarka Keita, a Near Eastern origin of proto-Afroasiatic speakers carrying E-M81, or its ancestral lineage, is inconsistent with the linguistic evidence, which seems to indicate an African origin of Proto-Afro-Asiatic speakers. Keita argues that 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 the Maghreb, or possibly as far south as the Horn of Africa.^[28]

In Europe, E-M81 is found everywhere but mostly in the Iberian Peninsula Spain, where unlike in the rest of Europe^{[Note 6]} it is more common than 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 South Portugal, 9% in Galicia, 14% in Western Andalusia and 10% in Northwest Castile and 9% to 17% in Cantabria.^{[18][29][30][31][32]} The highest frequencies of this clade found so far in Europe were observed in the Pasiegos from Cantabria, ranging from 18% (8/45)^[32] 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%).^[33]

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),^[34][35] in Sicily (approximately 2% overall, but up to 5% in Piazza Armerina),^[36] and in very much lower frequencies in continental Italy (especially near Lucera)^[31] possibly due to ancient migrations during the Islamic, Roman, and Carthaginian empires.

As a result of its old world distribution, this sub-clade is found throughout Latin America, for example 6.1% in Cuba,^[37] 5.4% in Brazil (Rio de Janeiro), ^{[Note 7]} and among Hispanic men from California and Hawaii 2.4%.^[38]

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

Sub Clades of E1b1b1b1 (E-M81)

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

• E1b1b1b1a (E-M107). Underhill et al. (2000) found one example in Mali.
• E1b1b1b1b (E-M183). This clade is extremely dominant within E-M81. In fact, while Karafet et al. (2008) continues to describe this as a sub-clade of E-M81, and ISOGG defers to Karafet et al., all data seems to imply that it should actually be considered phylogenetically equivalent to M81.

Sub Clades of E1b1b1b1b (E-M183)

• E1b1b1b1b1 (E-M165): Underhill et al. (2000) found one example in Middle East.
• E1b1b1b1b2 (E-L351): Found in two related participants in The E-M35 Phylogeny Project.

E1b1b1c (E-M123)

E1b1b1c (E-M123), formerly E3b1c or E3b3, is mostly known for its major sub-clade E1b1b1c1 (E-M34), which dominates this clade.^{[Note 8]} 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. Arredi et al. (2004) found 1 Tunisian in their study of 275 men in Northern Africa. Zalloua et al. (2008) found 26 E-M123 cases in Cyprus, out of 164 men tested; and 27 Palestinians out of 291 tested^[39]

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 reported 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. Shen et al. (2004) found 4 out of 20 tested Israeli Jews of Libyan ancestry to be M123+.

Concerning E1b1b1c1 (E-M34) Cruciani (2004) tested for E-M34 in Oman and found 7.7% to be E-M34+, with no E-M123*. 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%). Arredi et al. (2004) found frequencies of 10.50% in Kabyles from Algeria, 9.5% in Egyptians and 1.50% in Tunisians.

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.^[3]

Sub Clades of E1b1b1c1 (E-M34)

• E1b1b1c1a. Defined by SNP mutation M84, with M136 defining a sub-clade, E1b1b1c1a1 as of October 2008.^[5] The E-M35 Phylogeny Project estimates based on testing so far (in January 2009) that E-M84 is dominant in 6 out of the 8 clusters of E-M34 which that project identifies.
• E1b1b1c1b. Defined by SNP mutation M290. Shen et al. (2004) found 1 Palestinian exemplar.
• E1b1b1c1c. Defined by SNP mutation V23. Trombetta et al. (2011) announced the discovery of this clade. They found it in two African individuals. The authors warned that they had not yet confirmed that this clade was not a sub-clade or parent clade of either M84 or M290, so the phylogenetic position E1b1b1c1c is tentative.

E1b1b1d (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.

E1b1b1e (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.^[8]

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".

E-P72 appears in Karafet et al. (2008). Trombetta et al. (2011) announced that this is a sub-clade of E-M293. (Both sets of authors in 2008 initially named their discoveries as E3b1f.)^{[Note 9]}

E1b1b1f (E-V42)

Trombetta et al. (2011) announced the discovery of this clade in two Ethiopian Jews. So like E-V6 and E-V92 it possibly only exists in the area of Ethiopia.

E1b1b1g (E-V92)

Trombetta et al. (2011) announced the discovery of this clade in two Ethiopian Amhara. So like E-V6 and E-V42 it possibly only exists in the area of Ethiopia.

Tree

This phylogenetic tree of haplogroup subclades is based on the YCC 2008 tree ^[6] and subsequent published research as summarized by ISOGG.^[5]

• E1b1b (M215/PAGES00040)
  • E1b1b1 (M35.1, M243, L336)
    • E1b1b1a (V68)
      • E1b1b1a1 (L18, M78)
        • E1b1b1a1a (V12)
          • E1b1b1a1a1 (M224)
          • E1b1b1a1a2 (V32)
        • E1b1b1a1b (V13, V36, L142.1)
          • E1b1b1a1b1 (V27)
          • E1b1b1a1b2 (P65)
          • E1b1b1a1b3 (L17)
          • E1b1b1a1b4 (L143)
          • E1b1b1a1b5 (M35.2)
          • E1b1b1a1b6 (L241)
          • E1b1b1a1b7 (L250, L251, L252)
          • E1b1b1a1b8 (L540)
        • E1b1b1a1c (V22)
          • E1b1b1a1c1 (M148)
          • E1b1b1a1c2 (V19)
        • E1b1b1a1d (V65)
        • E1b1b1a1e (M521)
    • E1b1b1b (L19/V257, L335, M310)
      • E1b1b1b1 (M81)
        • E1b1b1b1a (M107)
        • E1b1b1b1b (M183/PAGES00033)
          • E1b1b1b1b1 (M165)
    • E1b1b1c (M123)
      • E1b1b1c1 (M34)
        • E1b1b1c1a (M84, L29/PAGES00047)
          • E1b1b1c1a1 (M136)
        • E1b1b1c1b (M290)
        • E1b1b1c1c (V23)
    • E1b1b1d (V6)
    • E1b1b1e (M293)
      • E1b1b1e1 (P72)
    • E1b1b1f (V42)
    • E1b1b1g (V92)
  • E1b1b2 (M281, V16)

See also

• African admixture in Europe
• E1b1b1a
• Y-chromosome haplogroups by populations
• Human Y-chromosome DNA haplogroup
• Haplogroup E (Y-DNA)
• Haplogroup D (Y-DNA)
• Haplogroup DE (Y-DNA)
• * (haplogroup)
• molecular phylogeny
• genetic genealogy

Notes

References

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)