Haplogroup E1b1b (Y-DNA) explained

E1b1b (E-M215)
Origin-Place:Eastern Africa
Origin-Date:approx 22,400 years BP
Ancestor:E1b1
Descendants:E1b1b1 (E-M35), which in turn has sub-clades:-
1. E1b1b1a (E-V68)
2. E1b1b1b (E-V257)
3. E1b1b1c (E-M123)
4. E1b1b1d (E-M281)
5. E1b1b1e (E-V6)
6. E1b1b1e (E-M293)
7. E1b1b1f (E-V42)
8. E1b1b1g (E-V92)
Mutations:M215, most often found in conjunction with M35

In human genetics, Y Haplogroup E1b1b (E-M215), previously known as E3b, is a major Y-chromosome haplogroup, which is a division of the macro haplogroup E, and which is defined by the single nucleotide polymorphism (SNP) mutation M215. 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.

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. 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. 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, E1b1b is for example approximately the same as "haplotype V", still used in publications such as .

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]

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 estimated that E-M78 ("E1b1b1a1" in that paper) has been in Europe longer than 10,000 years. And more recently, human remains excavated in a Spanish funeral cave dating from approximately 7000 years ago were shown to be in this haplogroup.

Nevertheless, E1b1b1 represents a more recent movement of people out of Africa than haplogroup CT, which otherwise dominates human populations outside Africa., 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, have remarked that E1b1b seems to represent a late-Pleistocene migration from North Africa to Europe over the Sinai Peninsula in Egypt.[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. 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.

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).

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. Amongst populations with an Afro-Asiatic speaking history, a significant proportion of Jewish male lineages are E1b1b1 (E-M35). Haplogroup E1b1b1, which accounts for approximately 18% to 20% of Ashkenazi and 8.6% to 30% of Sephardi Y-chromosomes, appears to be one of the major founding lineages of the Jewish population.[3]

RegionPopulationNTotal E-M35E-M35*E-M78*E-V12*E-V13E-V22E-V32E-V65E-M81E-M123Study
EuropeKosovar Albanians11447.401.7543.850.900.90
EuropeSicilians23618.211.275.933.810.422.124.66
EuropeHuelva Andalusians16711.981.201.204.190.600.602.991.20
To be continued...

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. 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). The discovery of M281 was announced by, who found it in two Ethiopian Oromo. 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). Three smaller sub-clades are defined by mutations V6, V42 and V92 appear to be unique to the Horn of Africa region.

E1b1b1a (E-V68)

See main article: E1b1b1a. 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, 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", and all of Europe. The European distribution has a frequency peak centered in parts of the Balkans (up to almost 50% in some areas) and Sicily, and declining frequencies evident toward western, central, and northeastern Europe.

Based on genetic STR variance data, suggests that E1b1b1a1 originated in "Northeastern Africa", which in their study refers specifically to Egypt and Libya.[4] about 18,600 years ago (17,300 - 20,000 years ago).[5] 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, 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 .

E1b1b1b (E-L19/V257)

See main article: E1b1b1b. 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 . 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. 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. 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". 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).

In this key area from Egypt to the Atlantic Ocean, 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, found M81 in 28.6% (10 out of 35 men) in El-Hayez in the Western desert in Egypt.

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.

In Europe, E-M81 is found everywhere but mostly in the Iberian Peninsula Spain, where unlike in the rest of Europe[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. The highest frequencies of this clade found so far in Europe were observed in the Pasiegos from Cantabria, ranging from 18% (8/45) to 41% (23/56). 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%).[7]

E-M81 is also found in France, 2.70 % (15/555) overall with frequencies surpassing 5% in Auvergne (5/89) and Île-de-France (5/91),[8] in Sicily (approximately 2% overall, but up to 5% in Piazza Armerina), and in very much lower frequencies in continental Italy (especially near Lucera) 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,[9] 5.4% in Brazil (Rio de Janeiro), [10] and among Hispanic men from California and Hawaii 2.4%.[11]

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.

Sub Clades of E1b1b1b1b (E-M183)

E1b1b1b2 (E-Z830)

A recently confirmed clade which has not yet been included in most haplogroup trees, Z830 includes the confirmed sub-clades of E-M123, E-M293, and E-V42, 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. [12] [13] [14] [15]

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.[16] However, earlier studies did not test for E-M34.

E-M123* (tested and definitely without E-M34)
E-M123 without checking for the M-34 SNP
E1b1b1c1 (E-M34)

Proposed explanations of the distribution

The distribution pattern of M123 is patchy and this has led to discussion about how this can be explained. As noted above, proposed that although the clade has its roots in northwestern Africa, it has likely come to Ethiopia via Egypt, and then the Middle East., as also noted above, came to the same conclusion by comparing different data sets. Luis et al. propose that this male line may have traveled south from the Fertile Crescent with farming technology.

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.

Region and PopulationNE-M34Study
Jordanians (Dead sea)4531.1Flores et al. 2005
Ethiopian Amhara3423.5Cruciani et al. 2004
Ethiopian Jews2213.6Cruciani et al. 2004
Algerian Kabyles1910.5Arredi et al. 2004
Ethiopian Wolayta128.3Cruciani et al. 2004
Yemen628.1Cadenas et al. 2007
Ethiopian Oromo258Cruciani et al. 2004
Erzurum Turkish258Cruciani et al. 2004
Omanite137.7Cruciani et al. 2004
Bedouins287.1Cruciani et al. 2004
Sicilians1366.6Cruciani et al. 2004
Sephardi Turkish195.3Cruciani et al. 2004
United Arab Emirate414.9Cruciani et al. 2004
Northern Egyptians214.8Cruciani et al. 2004
Southeastern Turkish244.2Cruciani et al. 2004
Armenians4134.1Herrera et al. 2011
Druze Arabs283.6Cruciani et al. 2004
Sardinians3673.5Cruciani et al. 2004
Marrakesh Berbers293.4Cruciani et al. 2004
Palestinians293.4Cruciani et al. 2004
Central Anatolian613.3Cruciani et al. 2004
Istanbul Turkish352.9Cruciani et al. 2004
Southwestern Turkish402.5Cruciani et al. 2004
Southern Italians872.3Cruciani et al. 2004
Turkish Cypriots462.2Cruciani et al. 2004
Azeri972.1Cruciani et al. 2004
Northern Italians671.5Cruciani et al. 2004
Corsicans1401.4Cruciani et al. 2004
Asturians901.1Cruciani et al. 2004
Caucasus19520.4Yunusbayev et al. 2011
Northern Portuguese50Cruciani et al. 2004
Southern Portuguese49Cruciani et al. 2004
Pasiegos from Cantabria56Cruciani et al. 2004
Southern Spaniards62Cruciani et al. 2004
Spanish Basques55Cruciani et al. 2004
French85Cruciani et al. 2004
French Basques16Cruciani et al. 2004
Orkney Islanders7Cruciani et al. 2004
Danish35Cruciani et al. 2004
Central Italians89Cruciani et al. 2004
Polish38Cruciani et al. 2004
Estonians74Cruciani et al. 2004
Russians42Cruciani et al. 2004
Rumanians14Cruciani et al. 2004
Bulgarians116Cruciani et al. 2004
Albanians19Cruciani et al. 2004

Sub Clades of E1b1b1c1 (E-M34)

E1b1b1d (E-V6)

This sub-clade of E-M35 is defined by V6. (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, 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.

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). announced that this is a sub-clade of E-M293. (Both sets of authors in 2008 initially named their discoveries as E3b1f.)[17]

E1b1b1f (E-V42)

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)

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 and subsequent published research as summarized by ISOGG.

See also

Additional Sources

External links

Notes and References

  1. "Several observations point to eastern Africa as the homeland for haplogroup E3b—that is, it had (1) the highest number of different E3b clades (table 1), (2) a high frequency of this haplogroup and a high microsatellite diversity, and, finally, (3) the exclusive presence of the undifferentiated E3b* paragroup." As mentioned above, "E3b" is the old name for E1b1b (E-M215). : "This inference is further supported by the presence of additional Hg E lineal diversification and by the highest frequency of E-P2* and E-M35* in the same region. The distribution of E-P2* appears limited to eastern African peoples. The E-M35* lineage shows its highest frequency (19.2%) in the Ethiopian Oromo but with a wider distribution range than E-P2*." For E1b1b (M-215) reduced their estimate to 22,400 from 25,600 in, re-calibrating the same data.

  2. "Y chromosome data show a signal for a separate late-Pleistocene migration from Africa to Europe via Sinai as evidenced through the distribution of haplogroup E3b lineages, which is not manifested in mtDNA haplogroup distributions."
  3. "Paragroup EM35* and haplogroup J-12f2a* fit the criteria for major AJ founding lineages because they are widespread both in AJ populations and in Near Eastern populations, and occur at much lower frequencies in European non-Jewish populations."
  4. use the term "Northeastern Africa" to refer to Egypt and Libya, as shown in Table 1 of the study. Prior to, 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, found that 77.6% of 201 male Somalis tested in Denmark were members of this clade. However, were able to study more data, including populations from North Africa who were not represented in the study, and found evidence that the E-M78 lineages in the Horn of Africa were relatively recent branches (see E1b1b1a1b (E-V32) below). They concluded that Northeast Africa was the likely place of origin of E-M78 based on "the peripheral geographic distribution of the most derived subhaplogroups with respect to northeastern Africa, as well as the results of quantitative analysis of UEP and microsatellite diversity". E-M215, the parent clade of E-M78, originated in East Africa during the paleolithic and subsequently, E-M215 spread to Northeast Africa. According to, the presence of E-M78 in East Africa, is the result of a back migration of E-M215 chromosomes that had acquired the E-M78 mutation. also note this as evidence for "a corridor for bidirectional migrations" between Northeast Africa (Egypt and Libya in their data) on the one hand and East Africa on the other. The authors believe there were "at least 2 episodes between 23.9–17.3 ky and 18.0–5.9 ky ago".
  5. use two calculation methods for estimating the age of E-M78 which give very different results. For the main 18,600 years ago, the ASD method is used, while for a second "ρ method", used as a check, gives 13.7kya with a standard deviation of 2.3kya, but the difference between the two methods is only large for the age estimation of E-M78, not its sub-clades. The authors state that the big difference is "attributable to the relevant departure from a star-like structure because of repeated founder effects"
  6. , shows an average frequency of 4.3% (49/1140) in the Iberian Peninsula with frequencies reaching 9% in Galicia, 10% in Western Andalusia and Northwest Castile. However this study includes 153 individuals from Majorca, Minorca and Ibiza islands as well as 24 individuals from Gascony which are not in the Iberian Peninsula. Without these 177 individuals, average for Iberian Peninsula is 4.9% (47/963), see table.
  7. , see table
  8. Only men with French surname were analysed, in order to try to exclude more recent immigrants.
  9. (8 out of 132),
  10. (6 out of 112), "The presence of chromosomes of North African origin (E3b1b-M81; Cruciani et al., 2004) can also be explained by a Portuguese-mediated influx, since this haplogroup reaches a frequency of 9.6% in Portugal, quite similar to the frequency found in Rio de Janeiro (5.4%) among European contributors."
  11. (7 out of 295),
  12. http://www.haplozone.net/e3b/project/cluster/3
  13. http://www.haplozone.net/e3b/project/cluster/4
  14. http://www.haplozone.net/e3b/project/cluster/81
  15. http://www.haplozone.net/e3b/project/cluster/72
  16. As of 11 November 2008 for example, the E-M35 phylogeny project had records of four E-M123* tests, compared to 93 test results with E-M34.
  17. 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. For example the company Familytree DNA changed its webpages on or about 22 October and the relevant ISOGG reference page was changed on 23 October