- 1. Geographic distribution
- 2. Origins & History
- 2.1 Mesolithic South Europeans
- 2.2 Neolithic assimilation
- 2.3 E-M81 in Iberia
- 2.4 Classical Antiquity
- 3. Subclades
- 3.1 E-M78
- 3.2 E-M81
- 3.3 E-M123
- 4. Famous E1b1b individuals
Geographic distribution
Outside Europe, E1b1b is found at high frequencies in Morocco (over 80%), Somalia (80%), Ethiopia (40% to 80%), Tunisia (70%), Algeria (60%), Egypt (40%), Jordan (25%), Palestine (20%), and Lebanon (17.5%). On the European continent it has the highest concentration in Kosovo (over 45%), Albania and Montenegro (both 27%), Bulgaria (23%), Macedonia and Greece (both 21%), Cyprus (20%), Sicily (20%), South Italy (18.5%), Serbia (18%) and Romania (15%).
Distribution of haplogroup E1b1b in Europe, the Near East and North Africa
Origins & History
East African origins
Haplogroup E1b1b (formerly known as E3b) represents the last major direct migration from Africa into Europe. It is believed to have first appeared in the Horn of Africa approximately 26,000 years ago and dispersed to North Africa and the Near East during the late Paleolithic and Mesolithic periods. E1b1b lineages are closely linked to the diffusion of Afroasiatic languages.
The highest genetic diversity of haplogroup E1b1b is observed in Northeast Africa, especially in Ethiopia and Somalia, which also have the monopoly of older and rarer branches like M281, V6 or V92. Ethiopians and Somalians belong mostly to the V22 and V32 (downstream of V12) subclades, but possess also a minority of M81, M123 and V42 subclades. Among the main subclades of E1b1b only V13 and V65 are absent from the Horn of Africa, and probably originated in northern Africa (V65) or the southern Levant (V13).
Late glacial migration of E-M78 to Mediterranean Europe
It is still unclear when haplogroup E first entered Europe. The earliest known prehistoric sample to date is an E-V13 from Catalonia dating from 5000 BCE. So we know for sure that E1b1b was present in southern Europe at least since the Early Neolithic. Nonetheless, the possibility of other migrations of E1b1b to southern Europe during the Mesolithic or Late Palaeolithic cannot be ruled out. It is highly probable that the E-M78 subclade, found at relatively high frequencies in Mediterranean Africa, especially in Egypt (45% of the population) migrated to southern Europe before Neolithic herders from the Cardium Pottery culture arrived.
One might wonder why E1b1b is more common in the southern Balkans (Greece included) and southern Italy than anywhere in the Middle East, except in Egypt. What's more, the dominant form of E1b1b in Southeast Europe is E-V13, a subclade absent from the Horn of Africa and only present at low frequencies in North Africa (peaking in Lybia), the Levant and western Anatolia.
It has usually been assumed among academics that E-V13 and other E1b1b lineages came to the Balkans from the southern Levant via Anatolia during the Neolithic, and that the high frequency of E-V13 was caused by a founder effect among the colonisers. This theory has it that E1b1b people were associated with the development of Neolithic lifestyle and the advent of agriculture in the Fertile Crescent and its earliest diffusion to Southeast Europe (Thessalian Neolithic) and Mediterranean Europe (Cardium Pottery culture). The only concrete evidence for this at the moment is the presence of the E-V13 subclade, commonest in the southern Balkans today, at a 7000-year old Neolithic site in north-east Spain, which was tested by Lacan et al (2011). However, since E1b1b has not been found in any of the various Neolithic sites from the Balkans and Central Europe, it is more likely that the Catalan E-V13 individual was descended from Mediterranean Mesolithic hunter-gatherers.
This alternate hypothesis is that E-V13 migrated directly from North Africa to southern Europe, crossing the Mediterranean from Tunisia to Sicily, then to Italy and to the southern Balkans. This scenario would explain why E-V13 reaches its peak frequency just on the opposite side of the Strait of Otranto from Italy, i.e. in Albania (+ Kosovo) and Thessaly.
During the Ice Age, Malta, Sicily and mainland Italy formed a single land mass and the coast of North Africa was approximately half the distance it was today, making Sicily visible from Tunisia. Considering that Homo sapiens managed to get all the way to Australia by boat between 70,000 and 40,000 years ago, crossing the Strait of Sicily, perhaps via the small island of Pantelleria halfway, would have posed no major problem. In fact, it is almost certain that humans crossed that strait numerous times during the Stone Age.
Other subclades of E-M78 also present in North Africa and Europe today, like V12, V22 and V65, could also have crossed alongside V13. It is perhaps only due to a founder effect that V13 became considerably more common than other subclades in Europe, especially in the Balkans and eastern Europe. The greatest diversity of E-M78 subclades in Europe is actually found in Iberia, Italy and France, and not in the Balkans (where nearly all E1b1b are V13).
The Sahara changed many times from a lush green place to a hot and arid desert in the last 20,000 years. It was as arid as today at the end of the last Ice Age 13,000 years ago, then the warming climate brought tropical monsoons again from 10,000 to 7,000 years before present. The desertification taking place today started around 6,200 years ago. This series of severe transformations of their environment surely had a tremendous effect on the indigenous (E1b1b) people, causing populations booms during the green millennia following the Last Glacial Maximum, then again during the Neolithic period, and prompting migrations to milder climes once the rain had gone. The region most affected by the desertification would have been around modern Libya. The northern Maghreb enjoys the protection of the mountains that stopped the advance of the desert. Egypt had the Nile and its delta. As a result, if desertification did prompt North Africans to cross the Mediterranean at one time or another, they would most probably have crossed to Sicily first.
In such a scenario, North Africans would have belonged primarily to haplogroup E-M78. E-V13 is more common in Lybia today than anywhere in the Near East, which concords with central North Africa as being a potential source for the European E-V13 (and other subclades of M78). In fact, the small presence of E-V13 in the Near East could be better explained by the extremely long Greek presence in the eastern Mediterranean from the time of Alexander the Great until the end of the Byzantine domination over the region during the Middle Ages. It would be unthinkable that over 1,500 years of Hellenisation and Byzantine rule in Anatolia and the Levant didn't leave any genetic trace. In Anatolia, E-V13 is found mostly in the western third of the country, the region that used to belong to ancient Greece. The absence of E-V13 from Central Anatolia does not concord with a diffusion linked to Neolithic agriculture. There is clearly a radiation from the Greece (where E-V13 makes up approximately 30% of the paternal lineages) to the East Mediterranean (where the frequency drops to under 5%).
A strong argument in favour of E1b1b crossing directly from North Africa to southern Italy is that South Italians have more African admixture than people in the Balkans, Greece or Anatolia. This is true of the Northwest African admixture and theEast African (Red sea) admixture. Another argument is that E1b1b has never been found among the dozens of Neolithic Y-DNA samples in the Balkans or Central Europe.
The Neoltihic farmers who migrated from the Levant to the Balkans would have brought mostly Southwest Asian admixture and apparently exclusively Y-haplogroup G2a. Many Neolithic sites yielded an occasional "outsider" to the G2a majority, but these were lineages (C1a2, F, I1, I2) that are thought to belong to assimilated (or enslaved) Mesolithic hunter-gatherers. That was very probably the case with E-V13 in Catalonia too.
The hypothesis of E1b1b settling in Mediterranean Europe since the Late Paleolithic or Mesolithic would also explain:
1)...why South Italians and Iberians are remarkably dolichocephalic (long-headed) like North Africans, while North Italians (who are more of Italo-Celtic descent) are quite brachycephalic (broad-headed) like Central Europeans, Eastern Europeans and West Asians. A direct migration from North Africa to South Italy would have resulted not only in higher African admixture in South Italians, but also in a similar morphology. The Greeks are intermediary because they would have been blended with broad-headed West Asian Neolithic farmers (G2a) and later Bronze Age invaders (Indo-European R1a and R1b, but also Anatolian J2). Further north in the Balkans, the Mediterranean dolicocephalic type were supplanted by the Eastern European, Central Asian and West Asian brachycephalic type over time due to the numerous migrations to the region.
2)...the almost complete absence of other Paleolithic lineage (notably I2) from southern and central Italy, except in Sardinia, which was presumably not settled by Paleolithic North Africans due to its distance from the nearest coast. It would rather have been settled through Corsica from North Italy by Central European hunter-gatherers (I2a1). The modern Sardinian population distinguishes itself by its higher frequency of non-Mediterranean Mesolithic ancestry (such as WHG) but the nearly complete absence of East African admixture. Sardinia is also the only region of Italy which almost doesn't have any E-V13.
In the Balkans, I2a1b lineages only came between the Bronze Age (Thracians, Illyrians) and the Middle Ages (Slavs). If haplogroups C, F and I were the only Paleolithic European lineages, why would indigenous Paleolithic lineages be wiped out from the Balkans and most of Italy with the arrival of Near Eastern farmers, but survive and remain the dominant lineage in Sardinia, which was an important Neolithic centre belonging to the same Cardium Pottery culture as the rest of Italy ? The best explanation is that E1b1b was already the dominant Paleolithic lineage in the Balkans and Italy, apart from Sardinia, and therefore Paleolithic lineages weren't wiped out, but assimilated by Neolithic farmers, which assured their survival.
Assimilation of E-M78 by Neolithic farmers
Even if E1b1b was not one of the original lineage of Near Eastern Neolithic farmers, its presence in southern Europe during the Mesolithic would have brought it into contact very early on with agriculture. It has been confirmed that at least some E-V13 people were assimilated by G2a farmers of the Cardium Pottery culture, which started in Italy and spread to southern France and Iberia. However, out of 27 Neolithic Y-DNA samples derived from the Thessalian Neolithic (Starčevo culture and Linear Pottery culture), no a single one of them belonged to E1b1b. This could either mean that E-V13 was present in the Balkans, but lived as hunter-gatherers in other regions than farmers, or that E-V13 only entered the Balkans later in the Neolithic from Italy, after Italian E-V13 adopted agriculture during the Cardium Pottery period.
Nowadays E1b1b is the only Mediterranean haplogroup consistently found throughout Europe, even in Norway, Sweden, Finland and Baltic countries, which are conspicuous by the absence of other Neolithic haplogroups like G2a (bar the Indo-European G2a3b1), J1 and T (except in Estonia). However, since G2a is the only lineage that was consistently found in all Neolithic sites tested to date in Europe, the absence of Neolithic G2a lineages from Scandinavia and the Baltic implies that no Neolithic lineage survives there, and consequently E1b1b (mostly E-V13) does not date from the Neolithic in the region. It could easily have been brought by the Indo-European invasions during the Bronze Age, as a minority lineage picked up in Southeast Europe by the R1b tribes before they made their way to Central Europe and eventually Scandinavia. At present the most consistent explanation is that E-M78 was indigenous to southern Europe in the Mesolithic, and was assimilated by G2a farmers, then by R1b Indo-Europeans. There is in fact a very low diversity among E-V13 in central and north-east Europe, which is consistent with a relatively recent (Bronze to Iron Age) dispersal from a common source.
North African Neolithic cattle herder hypothesis
E-M81 in Iberia: Neolithic, Phoenician or Moorish ?
Nowadays E-M81 is far more frequent in western Iberia than anywhere else in Europe or the Near East. One could argue that E-M81 came during the Moorish occupation of the peninsula during the Middle Ages. But then E-M81 would be found chiefly in southern Iberia, and certainly not in the north-west, which was never conquered by the Muslims. Actually the highest percentage of M81 is Iberia is found in the northern region of Cantabria, the most sheltered place in the peninsula, which has been inhabited continuously since the Paleolithic. Modern Cantabrians belong overwhelmingly to mtDNA lineages H, HV, V and U5, and of three samples tested from Palaeolithic Cantabria all belong to one of these haplogroups, a sign of genetic continuity hinting that E-M81 could already have been present in the region back then. The main drawback with this hypothesis is that the coalescence age for E-M81 in the Maghreb and Iberia is too young (less than 6000 years).
Two alternative time frames can be envisaged for the entry of E-M81 to Iberia. The first possibility is that E-M81 was assimilated by North African herders during the Neolithic. Cattle were probably domesticated in West Asia around 8,500 BCE by R1b tribes. The southern branch, R1b-V88 propagated from the Fertile Crescent into Egypt and across North Africa. Archeology shows that cattle herders reached Lybia by 5,500 BCE and Algeria by 4,500 BCE. Goats were domesticate around the same time as cattle in West Asia, but probably by carriers of haplogroup J1 and T1a. Various groups would have spread in all directions from the Near East, including to North Africa. Thus, at least two separate groups of Neolithic herders would have arrived in the Maghreb and mixed with local E1b1b populations. This new lifestyle could have been the factor that prompted the sudden expansion of E-M81 lineages. The resulting population increase would have encouraged goat and cattle herders to seek new pastures in Iberia, which they could have done sometime between 4,000 and 3,000 BCE.
The presence of African mtDNA in Late Neolithic Spain (e.g. L1b1 in Andalusia c. 3,700 BCE, L2 in the Basque Country c. 2,650 BCE, and L3 Valencia during the Chalcolithic) supports a migration from Northwest Africa. L1b1 is specific to West Africa and could not have come with Near Eastern farmers. Consequently, male lineages from Northwest Africa must have come to Iberia at latest during the Neolithic.
Cumulatively, some E-M81 lineages could have settled in Iberia when the Phoenicians and the Carthaginians were actively trading between both sides of the West Mediterranean, a period that spans one full millennium (c. 1200-146 BCE). The Phoenicians were known to trade as far north as the British Isles, and may have had trading posts along the coast of Portugal, Galicia, Asturias and Cantabria, which would have brought a mixture of Near Eastern (J1, J2, E-M34, T, G2a) and Berber (E-M84, R1b-V88) lineages to the region, as is observed today.
Phoenician, Greek and Roman diffusions of E1b1b
The ancient Greeks contributed to the rediffusion of more E-V13 around places such as Cyprus, Sicily, southern Italy, Liguria, Provence, eastern Spain, and basically all part of the Classical ancient Greek world. Alexander's conquest of the Middle East would have taken E-V13 much further afield, perhaps as far as Afghanistan and Pakistan, although only at trace frequencies. The Greeks remained in control of the Middle East until the Roman conquest, then regained influence over the region during the Byzantine period. It is likely that most E-V13 in the Middle East is ultimately of Greek origin.
The Etruscans, who may have come from western Anatolia, could have brought E-M34 and more E-V13 to central Italy, which would then have been assimilated by the Romans. Migrations within the Roman Empire probably played a role, although a minor one, in the redistribution of E1b1b in Europe. The biggest genetic impact of the Romans/Italians outside of Italy appears to have been in Gaul (modern France, Belgium, southern Germany and Switzerland), probably because this was the closest region to Italy using the well-developed Roman road network (actually inherited from the Gauls themselves).
Subclades
Five major subclades of E1b1b (V12, V13, V22, M81, M123) originated in Northeast Africa before the Neolithic. Consequently most of them are present virtually in all regions where E1b1b is found. One exception is Norway, Sweden and Finland, where only E-V13 seems to be present.
The frequency of E subclades has varied geographically over time due to founder effects in Neolithic populations, i.e. the migration of a small group of settlers carrying among whom one paternal lineage was much more common than any others. Examples of founder effects include E-V12 in southern Egypt, E-V13 in the Balkans, E-V32 in Somalia, E-V65 on the Mediterranean coast of Africa, and E-M81 in Northwest Africa.
E1b1b1a1 (M78)
E-M78 is the most common variety of haplogroup E among Europeans and Near Easterners. E-M78 is divided into 4 main branches : E1b1b1a1 (E-V12), E1b1b1a2 (E-V13), E1b1b1a3 (E-V22) and E1b1b1a4 (E-V65), each subdivided in further subclades.
E-V13
The E-L17 subclade has been found from Ukraine to Portugal and from Sardinia to England.
The E-L143 subclade has only been found in England.
The E-L241 subclade has been found in the Czech Republic and England.
The E-L540 subclade has been found in Germany, the Czech Republic, Poland, Belarus and Sweden.
Distribution of haplogroup E-V13 in Europe, the Middle East & North Africa
E-V22 is found primarily in western Ethiopia, northern Egypt and in the southern Levant. In Europe it is therefore associated with the Phoenicians and the Jews. The Phoenicians could have disseminated E-V22 to Sicily, Sardinia, southern Spain and the Maghreb, and the Jews to Greece and mainland Italy and Spain. However, V22 might have been found among Mesolithic South Europeans like V13.
E-V12 is the most common subclade of M78 in southern Egypt (over 40% of the population), while its V32 subclade is the dominant paternal lineage in Somalia, southern Ethiopia and northern Kenya. The moderate presence of V12* in the Near East and across Europe (except Nordic countries) indicates that it could have been a minor Mesolithic South European lineage accompanying E-V13. Its V32 subclade has not been found outside Northeast Africa.
E-V65 is found chiefly in North Africa, with a maximum frequency (20-30%) observed in Lybia, Tunisia and northern Morocco. The absence of V65 from the Horn of Africa means that it would have originated in North Africa. V65 has also been found at lower frequencies (0.5% to 5%) in Egypt, Greece, southern Italy, Sicily, and more interestingly among the Sardinians and the Basques, two population isolates with strong affinities with the Neolithic and Mesolithic populations of Europe, but both mostly lacking E-V13. However, V65 has not been found in the Levant, the Balkans or in non-Mediterranean Europe, which disproves a Neolithic dispersal. Its strongly North African distribution and very minor presence in parts of southern Europe with historical links to North Africa would rather suggest that this lineage was brought to southern Europe by immigrants from North Africa. In the case of Italy this could have taken place any time from the Phoenician/Carthaginian period (c. 1000-146 BCE) until the Vandal Kingdom. In Greece, V65 could have come from the ancient colonies of Cyrenaica. In Iberia, V65 could have crossed the Strait of Gibraltar any time since the late Paleolithic.
E1b1b1b1a (M81)
E-M81 probably originated in the Horn of Africa, although its presence is very limited there nowadays (1.5% in Somalia, 5% in Sudan). M81 spread throughout North Africa and the Levant, and became the dominant lineage of the Berbers of Northwest Africa, almost certainly due to a founder effect. M81 is found at an average frequency of 45% in the Maghreb and Lybia, with peaks at over 60% in Tunisia as well as central and southern Morocco. M81 is also found in Portugal (8%), Spain (4%), as well as in France (0-6%) and Italy (0-4%), where strong regional variations are observed. M81 is especially common in western Iberia, notably Extremadura (15.5%), Andalusia (13.5%), southern Portugal (11%), north-west Castille (10%) and Galicia (10%). The highest percentage of E-M81 in Europe is found among the Pasiegos (30%, n=101), an isolated community living in the mountains of Cantabria.
Note the resemblance between the distribution of E-M81 and the African admixture from the Dodecad project.
Distribution of haplogroup E-M81 in Europe, the Middle East & North Africa
E1b1b1b2a (M123)
E-M123 is most commonly found in Ethiopia (5-20%), where it appears to have originated. Its main subclade E-M34probably emerged in the southern Levant, where it reaches its maximum frequency (10-12% among the Palestinians and the Jews, 8% among the Bedouins, 5% in Lebanon), then expanded in every direction across North Africa (3-5%), the Middle East and South Asia, Anatolia (3-6%) and southern Europe, particularly Italy (1 to 8%).
In Europe E-M123 is only observed at frequencies over 2.5% in southern Italy, in the Spanish region Extremadura (4%), and the Balearic islands of Ibiza and Minorca (average 10%). E-M123 could have been brought to the Mediterranean coasts of Europe by the Phoenicians, and to Italy by the Etruscans (from Anatolia). The Romans might have contributed to spreading it around their empire at low frequencies.
E-M34 is the most common form of E1b1b among Jewish people. Based on the few people who tested for tested for deeper subclades, Jewish people can either belong to the M84 or the L791 subclade of M34.
The M293 (aka CTS2297) subclade of M34 has been found among Arabic people from the Arabian peninsula (Kuwait).
Distribution of haplogroup E-M123 in Europe, the Middle East & North Africa
