Haplogroup E1b1b (Y-DNA)

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"E3b" redirects here. For the Pennsylvania Railroad locomotive, see PRR E3b.

Haplogroup E1b1b (E-M215)
Possible time of origin	approx 22,400 years BP^[1]
Possible place of origin	Eastern Africa^[2]^[3]
Ancestor	E1b1
Descendants	E1b1b1, E1b1b2. Sub-clades of E1b1b1:- 1. E-V68 containing E-M78 2. E-Z827 containing E-M81, E-M123, E-V42 and E-M293 3. E1b1b1d (E-V6) 4. E1b1b1g (E-V92)
Defining 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.^[4]^[5]^[6] 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

Further information: Conversion table for Y chromosome haplogroups

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 M35.1 respectively, which can also be referred to as E-M215 and E-M35.1.^[5] The nomenclature E3b (E-M215) and E3b1 (E-M35.1) respectively were the YCC defined names used to designate the same haplogroups in older literature with E-M35.1 branching as a separate subclade of E-M215 in 2004.^[2] 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 Gérard et al. (2006).^[6]

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) -formerly Haplogroup 21 ^[7]- are believed to have first appeared in East Africa about 22,400 years ago.^[1]^{[Note 1]}

The ancient dispersals of the major E1b1b1 (E-M35) lineages. The map shows the supposed earliest movements of E1b1b lineages as described in the most recent articles.^[2]^[1]^[8]^[9]

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 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.^[10]

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 & 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]}

While this proposal remains uncontested, it has more recently been proposed by Trombetta et al. (2011) that there is also evidence for additional migration of E1b1b carrying men directly from Africa to southwestern Europe, via a maritime route. (See below.)

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]^[11]^[12]

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.^[13]^[14]^[15] Amongst populations with an Afro-Asiatic speaking history, a significant proportion of Jewish male lineages are E1b1b1 (E-M35).^[16] Haplogroup E1b1b1, which accounts for approximately 18%^[3] to 20%^[17]^[18] of Ashkenazi and 8.6%^[19] to 30%^[3] of Sephardi Y-chromosomes, appears to be one of the major founding lineages of the Jewish population.^[20]^{[Note 3]}

Subclades of E1b1b (E-M215)

E-M215

Haplogroup E1b1b1* (E-M215*). Rare or non-existent.

E-M35

E1b1b1b* (E-M35*). By latest definition in Trombetta et al. (2011), now rare outside Horn of Africa.

E-V68

	E1b1b1a* (E-V68*). Found in individuals in Sardinia.

	E1b1b1a1 (E-M78). North Africa, Horn of Africa, West Asia, Europe. Old E1b1b1a.

E-Z827

E1b1b1b* (E-Z827*)

E-V257

	E1b1b1b1* (E-V257/L19). Found in individual Berbers, and in Southwestern Europe, and Kenya.

	E1b1b1b1a (E-M81). Berbers, but also Spain, France, Italy, Turkey, etc. Old E1b1b1b.

E-Z830

E1b1b1b2* (E-Z830*)

E-M123

	E1b1b1b2a* (E-M123). Scattered widely in Europe, North Africa and Middle East. Former E1b1b1c.

	E1b1b1b2a1 (E-M34). Scattered widely, frequent in Semitic speaking populations.

E-M293

	E1b1b1b2b* (E-M293). Southern and Eastern Africa.

	E1b1b1b2b1 (E-P72). Found in southern Africa.

E1b1b1b1c (E-V42). Found in individuals in Ethiopia.

E-V92. Found in individuals in Ethiopia.

E1b1b1d (E-V6). Found mainly in the region of Ethiopia.

Haplogroup E1b1b2 (E-V16/E-M281). Rare. Found in individuals in Ethiopia.

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]^[21] 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.^[22] 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 2012, there is an increasingly complex tree structure which divides most men in E-M35 into two major branches: E-V68 and E-Z827, although other branches still exist in the Horn of Africa, such as E-V6.

The more frequently described sub-clades are E-M78 (referred to with various names in literature including E1b1b1a) and E-M81 (referred to with various names in literature including E1b1b1b). These two sub-clades represent the largest proportion of E1b1b population. E-M78 is found over most of the range where E1b1b is found excluding Southern Africa. E-M81 is found mainly in the Maghreb. E-M123 is less common but widely scattered, with significant populations in specific parts of the Horn of Africa, the Levant, Arabia, Iberia, and Anatolia. E-M293 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] Many smaller sub-clades, such as those 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 et al. (2011)

E-V68

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 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.^[23] The European distribution has a frequency peak centered in parts of the Balkans (up to almost 50% in some areas)^[3]^[24] 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)

E-Z827

Main article: E1b1b1b

In human genetics, E1b1b1b (or E-Z827), is the name of a major Y chromosome haplogroup abundantly found in North Africa (especially Maghreb) and to a lesser extent in the Near East, Sub-Saharan Africa and Europe.

E-V257/E-L19

"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.

Currently, the phylogeny and migratory pattern of L19/V257 is not completely understood. More population samples of this SNP are needed to make any determination on its migratory pattern over the last 5000 years. A project dedicated to researching and understanding the origins of L19/V257 is underway at FamilyTreeDNA.com. The name of the project is E1b1b1b*-A.

This Haplogroup is distinct from E1b1b1b1 in that all particpants have tested negative for E-M81, the dominant subclade of E1b1b1b.

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]^[25] 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.^[25]^[26]^[27] 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).^[25]^[28]

Distribution of E1b1b1b1 in select areas of Africa, Asia and Europe

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 may also have been carried into its currently most common region together with a form of proto-Afroasiatic.

On the basis of these possible links, the men who brought E-M81 into northwestern Africa may therefore have come from Asia, or they may represent a "local contribution to the North African Neolithic transition". But 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.^[15]

In Europe, E-M81 is widespread but rare, except in the Iberian Peninsula Spain, where unlike in the rest of Europe^{[Note 6]} it is found at comparable levels to E-M78, with an average frequency of around 5%, and in some regions it is more common. 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.^[19]^[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.

There are two recognized sub-clades of E-M81, although one is much more important than the other.

E-M107

Currently E1b1b1b1a, Underhill et al. (2000) found one example in Mali.

E-M183

Currently E1b1b1b1b, this clade is extremely dominant within E-M81. Karafet et al. (2008) described it as a sub-clade of E-M81. The known sub-clades of E-M183 (E1b1b1b1b) include:

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.

E-Z830

Currently E1b1b1b2, 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, E-V42, and E-Z830*, 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.^[39]^[40]^[41]^[42]

E-M123

Main article: Haplogroup E1b1b1c (Y-DNA)

Currently E1b1b1b2a, formerly E1b1b1c, E3b1c or E3b3, is mostly known for its major sub-clade E-M34 (formerly E1b1b1c1), which dominates this clade.^{[Note 8]}

E-M293

Formerly E1b1b1e, this sub-clade of E-M35 is identified by ISOGG as the second clade within E-Z830. It was discovered before E-Z830, being 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]}

E-V42

Formerly E1b1b1f, 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. This is the third known sub-clade of E-Z830.

E-V92

Formerly E1b1b1g, 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.

E-V6

Formerly E1b1b1d, 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.

Tree

This phylogenetic tree of haplogroup subclades is based on the YCC 2008 tree ^[5] and subsequent published research as summarized by ISOGG.^[4]

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)

Notes

E-V13

E-V13 is a Y chromosome haplogroup defined by the mutation V13. It is a sub-clade of E-M78. It's phylogenetic name according to the E haplogroup page on ISOGG's website is E1b1b1a2.

The E-V13 clade is equivalent to the "alpha cluster" of E-M78 reported in Cruciani et al. (2004). They described it as follows in 2004...

Cluster α is largely characterized by the otherwise rare nine-repeat allele at A7.1 (we found only 3 such alleles out of 800 E[xE3b1] chromosomes analyzed [present study; R.S., unpublished data]), often associated with the uncommon DYS413 24/23 pattern and its one-step neighbors. When compared with the other clusters in the network, it displays marked starlike features, with three central haplotypes accounting for 26% of the entire cluster. This cluster is very common in the Balkans (with frequencies of 20%–32%), and its frequencies decline toward western (7.0% in continental Italy, 7.4% in Sicily, 1.1% in Sardinia, 4.3% in Corsica, 3.0% in France, and 2.2% in Iberia) and northeastern (2.6%) Europe. In the Near East, this cluster is essentially limited to Turkey (3.4%). The relatively high frequency of DYS413 24/23 haplogroup E chromosomes in Greece (A.N., unpublished data) suggests that cluster a of the E-M78 haplogroup is common in the Aegean area, too.

Note that A7.1 is more commonly referred to as DYS460.

The clade was first defined by the SNP V13 in Cruciani et al. (2006), then further discussed in Cruciani et al. (2007). The 2006 article showed all 98 previously identified alpha cluster haplotypes were in E-V13 when SNP tested. Also positive for V13, were 3 from the delta cluster and 2 that had not been clustered. (The majority of the delta cluster were E-V22, but it also contained a significant number of E-12* samples, which led the authors to state that "cluster δ cannot be regarded as a monophyletic unit".)

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.

Geographical Distribution

Cruciani et al. (2007) remark...

Haplogroup E-V13 is the only lineage [of E-M78] 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%).

For example, E-V13 is 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 perhaps the Near East (Cruciani et al. (2007)).

Within Europe, E-V13 is especially common in the Balkans and some parts of Italy. In different studies, particularly high frequencies have been observed in Kosovar Albanians (45.6%) (Peričic et al. (2005)), and Albanian speakers of the Former Yugoslavian Republic of Macedonia (34.4%) (Battaglia et al. (2008)). Semino et al. (2004) suggest that there might be similarly high levels of E-M78, presumably all in E-V13, in parts the Peloponnese.^[1] King et al. (2008) found around 35% in both their Lerna/Frachthi (Peloponnesian) and Sesklo/Dimini (Thessaly) data sets (but significantly less in Greek Macedonia).

In some of these populations, E-V13 is the most common Y lineage.

More generally, high frequencies have also been found in other areas of Greece, and amongst Bulgarians, Romanians, and Serbs (Cruciani et al. (2004), Rosser et al. (2000), Peričic et al. (2005), King et al. (2008).

Within Italy, frequencies tend to be higher in Southern Italy (Cruciani et al. (2007)), with particularly high results sometimes seen in particular areas, for example Santa Ninfa and Piazza Armerina in Sicily (Di Gaetano et al. (2008)). High frequencies have also been observed in some northern areas, for example around Venice.^[2]

Phylogenetic analysis strongly suggest that these lineages have spread through Europe, from the Balkans in a "rapid demographic expansion" (Cruciani et al. (2007)). 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 (Cruciani et al. (2007)). The Druze are considered a genetically isolated community (Shlush et al. (2008)), 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.

STR haplotypes

The data of Cruciani et al. (2007) can be summarized in a table format...

haplotype	description	YCAIIa	YCAIIb	DYS413a	DYS413b	DYS19	DYS391	DYS393	DYS439	DYS460	DYS461	A10
All E-V13	modal	19	21	23	24	13	10	13	12	9	10	13
Druze V13	1	19	21	23	23	13	10	13	13	11	9	12
Druze V13	2	19	21	23	23	13	10	13	13	11	9	13
All E-V22	modal	19	22	22	23	14	10	13	12	11	10	12
All E-V12*	modal	19	22	22	22	13	10	13	11	11	9	13

Journal articles which have typed for V13

Cruciani et al. (2007) 261 exemplars with 11 STR markers: DYS393, DYS19, DYS391, DYS439, YCAIIa/b, DYS460, DYS413a/b, DYS461, GATAA10. See Cruciani data.
Di Gaetano et al. (2008) 14 exemplars from Sicily with DYS393, DYS390, DYS19, DYS391, DYS385a/b, DYS439, DYS389I, DYS392, DYS389II, DYS460.
Hassan et al. (2008) (No exemplars were found in this study of Sudan.)
Battaglia et al. (2008) 107 exemplars from the Balkans and Turkey, with the following STR markers: DYS393, DYS390, DYS19, DYS391, DYS388, DYS439, DYS389I, DYS392, DYS389II, YCAIIa/b, DYS460.
King et al. (2008). 61 E-V13 haplotypes with DYS393, DYS390, DYS19, DYS391, DYS388, DYS439, DYS389I, DYS392, DYS389II, DYS461(A7.2). (These authors also claim to be able to re-analyze the data of Cinnioglu et al. (2004) and Luis et al. (2004) and see the V13 breakdown? This does not appear to be possible?)
Caratti et al. (2009). Includes the above Di Gaetano data, plus a total of 90 more haplotypes from Piedmonte, some of which were E-M35. STR markers DYS393, DYS390, DYS19, DYS391, DYS385a/b, DYS389I, DYS392, DYS389II.

We can add that the following articles specifically looked for this "alpha cluster" without testing for V13, but instead by using the STR marker DYS461, which is normally 9 in this clade.

Bosch et al. (2006) DYS393, DYS390, DYS19, DYS391, DYS385, DYS388, DYS439, DYS389I, DYS392, DYS389II, DYS437, DYS460, DYS438, DYS461, DYS462, DYS434, DYS435, DYS436
Peričic et al. (2005) DYS393, DYS390, DYS19, DYS391, DYS385a, DYS385b, DYS389I, DYS392, DYS389II
Martinez et al. (2007) A7.1 (DYS460), DYS19, and DYS439. (The main aim is to find examples of E-V65.)
Martinović Klarić et al. (2008) DYS393, DYS390, DYS19, DYS391, DYS385a,b, DYS439, DYS389I, DYS392, DYS389II, DYS458, DYS437, DYS448, GATA H4, DYS456, DYS438, DYS635. This is a study of the Bayash Roma in Croatia.
(Also note above remarks about King et al. (2008) supposedly re-interpreting old data from Cinnioglu et al. (2004) and Luis et al. (2004).)

Identified 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.
E1b1b1a2c. Defined by L17. Discovered by FT DNA and E-M35 Phylogeny Project members in 1 person only so far.

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. See especially Cruciani et al. (2007).

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 are generally thought to be suggestive that it was brought to the Balkans along with early farming technologies, during the Neolithic expansion (Semino et al. (2004)]]). However, Battaglia et al. (2008) believe it arrived in Europe in the Mesolithic and then only later integrated with Neolithic cultures in the Balkans. They suggest the first major dispersal of E-V13 from the Balkans may have been in the direction of the Adriatic Sea with the Neolithic Impressed Ware culture often referred to as Impressa or Cardial. Battaglia et al. associate this migration also with the Y haplogroup I-M423.

Concerning dispersal from the Balkans Cruciani et al. (2007) suggest in contrast to Battaglia et al. that this may have been as recent as 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". Peričic et al. (2005) specifically propose the Vardar-Morava-Danube rivers as a possible route of Neolithic dispersal into central Europe.

Macedonian 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.

Doubts about this line of reasoning have been expressed because (a) new data appearing in King et al. (2008) indicates other high concentrations in Greece and (b) the data in Peričic et al. (2005) show that the area with the highest frequency does not have the highest diversity, implying that V13 arrived there more recently than in Greece.

Bird uses three sources: Weale et al. (2002), Capelli et al. (2003) and Sykes (2006). Neither Capelli nor Weale have data from the area in the English Midlands where Bird suggests that there is a lack of E1b1b. In 2006 Bird mentioned that there were 193 Central English haplotypes in Sykes.

However, according to data published so far, 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. Zalloua et al. (2008) write that...

PCS3+ scores strongly as a Phoenician colonization candidate and is strongly associated with the SNP haplogroup E3b, but it does not show the wide geographic coverage that the other PCS+s demonstrate. It represents the strongest of the lower-coverage STR+s.

However the authors admit that the number of STRs they use does not even distinguish between major haplogroups such as E and J in a clear way. They also admit that they could not design the testing so as to identify the influence of the Jewish diaspora.

Notes

↑ They found 17 out of 36 there, but justified drawing conclusions from this small sample by referring also to Di Giacomo et al. (2003), who tested for haplogroup DE in Patrai.
↑ Scozzari et al. (2001) See clade 25.1. The same data set was later used in Cruciani et al. (2004) and Cruciani et al. (2007)), and Rimini (Pelotti et al. (2007)), both in the northwest of Italy, as well as on the island of Corsica (Francalacci et al. (2003))

Haplogroup E-M215 (Y-DNA)

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"E3b" redirects here. For the Pennsylvania Railroad locomotive, see PRR E3b.

Haplogroup E-M215
Possible time of origin	approx 22,400 years BP^[1]
Possible place of origin	Eastern Africa^[2]^[3]
Ancestor	E1b1
Descendants	E-M243 and E-M281
Defining mutations	M215, most often found in conjunction with M243

In human genetics, Y Haplogroup E-M215, previously known as E3b, is a major Y-chromosome haplogroup, which is a division of the macro haplogroup E-M96, and which is defined by the single nucleotide polymorphism (SNP) mutation M215.^[4]^[5]^[6] 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. E-M215 is especially common among Oromos and Somalis in the Horn of Africa, as well as Berbers, Egyptians and Tuareg in North Africa. It is also frequently observed in West Asia, from where it spread into the Balkans and the rest of Europe. E-M215 has at least four common subclades: E-V68, E-V257, E-M123, E-M293, the last of which spreads from Ethiopia to South Africa.

Current and previous names

Further information: Conversion table for Y chromosome haplogroups

E-M215 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 M35.1 respectively, which can also be referred to as E-M215 and E-M35.1.^[5] The nomenclature E3b (E-M215) and E3b1 (E-M35.1) respectively were the YCC defined names used to designate the same haplogroups in older literature with E-M35.1 branching as a separate subclade of E-M215 in 2004.^[2] 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, E-M215 is for example approximately the same as "haplotype V", still used in publications such as Gérard et al. (2006).^[6]

Origins

The modern population of E-M215 and E-M243 lineages are almost identical, and therefore by definition age estimates based on these two populations are also identical. E-M215 and its dominant subclade E-M243 —formerly Haplogroup 21 ^[7]- are believed to have first appeared in East Africa about 22,400 years ago.^[1]^{[Note 1]}

The ancient dispersals of the major E-M243 lineages. The map shows the supposed earliest movements of E-M215 lineages as described in the most recent articles.^[2]^[1]^[8]^[9]

All major sub-branches of E-M243 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 E-M243 left Africa many thousands of years ago. For example Battaglia et al. (2007) estimated that E-M78 (called 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.^[10] Nevertheless, E-M243 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-M243 subclades potentially give "reagents with which to infer specific episodes of population histories associated with the Neolithic agricultural expansion". Concerning European E-M243 within this scheme, Underhill & Kivisild (2007) have remarked that E-M215 seems to represent a late-Pleistocene migration from North Africa to Europe over the Sinai Peninsula in Egypt.^{[Note 2]} While this proposal remains uncontested, it has more recently been proposed by Trombetta et al. (2011) that there is also evidence for additional migration of E-M215 carrying men directly from Africa to southwestern Europe, via a maritime route. (See below.)

Distribution

E-M215 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] E-M243 is the predominant subclade of E1b1b, representing almost exactly the same population. M215 was found to be older than M243 when individuals were found who have the M215 mutation, but do not have M243 mutation.^[2]

The E-M215 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]^[11]^[12] E-M215 and E-M243 are quite common among Afro-Asiatic speakers. The linguistic group and carriers of E-M243 lineage have a high probability to have arisen and dispersed together from the region of origin of this language family.^[13]^[14]^[15] Amongst populations with an Afro-Asiatic speaking history, a significant proportion of Jewish male lineages are E-M243.^[16] Haplogroup E-M243, which accounts for approximately 18%^[3] to 20%^[17]^[18] of Ashkenazi and 8.6%^[19] to 30%^[3] of Sephardi Y-chromosomes, appears to be one of the major founding lineages of the Jewish population.^[20]^{[Note 3]}

Subclades of E-M215

E-M215

Haplogroup E1b1b1* (E-M215*). Rare or non-existent.

E-M243

E1b1b1b* (E-M243 *). By latest definition in Trombetta et al. 2011, now rare outside Horn of Africa.

E-V68

	E1b1b1a* (E-V68*). Found in individuals in Sardinia.

	E1b1b1a1 (E-M78). North Africa, Horn of Africa, West Asia, Europe. Old E1b1b1a.

E-Z827

E1b1b1b* (E-Z827*)

E-V257

	E1b1b1b1* (E-V257/L19). Found in individual Berbers, and in Southwestern Europe, and Kenya.

	E1b1b1b1a (E-M81). Berbers, but also Spain, France, Italy, Turkey, etc. Old E1b1b1b.

E-Z830

E1b1b1b2* (E-Z830*)

E-M123

	E1b1b1b2a* (E-M123). Scattered widely in Europe, North Africa and Middle East. Former E1b1b1c.

	E1b1b1b2a1 (E-M34). Scattered widely, frequent in Semitic speaking populations.

E-M293

	E1b1b1b2b* (E-M293). Southern and Eastern Africa.

	E1b1b1b2b1 (E-P72). Found in southern Africa.

E1b1b1b1c (E-V42). Found in individuals in Ethiopia.

E-V92. Found in individuals in Ethiopia.

E1b1b1d (E-V6). Found mainly in the region of Ethiopia.

Haplogroup E1b1b2 (E-V16/E-M281). Rare. Found in individuals in Ethiopia.

A large majority of E-M215 lineages are within E-M243. Exceptions discovered so far are M215 positive/M243 negative ("E-M215*") cases found in two Amharic Ethiopians and 1 Yemeni.^[2]^[21] At least some of these men, perhaps all, are known since early 2011 to be in a rare sibling clade to E-M243 , E-V16/E-M281.^[22] 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, E-M243 is defined by the M243 SNP. E-M243 includes individuals with the "ancestral state" (no known subclade forming mutations). These are referred to as E-M243*. As of 2012, there is an increasingly complex tree structure which divides most men in E-M243 into two major branches: E-V68 and E-Z827, although other branches still exist in the Horn of Africa, such as E-V6. The more frequently described subclades are E-M78 (referred to with various names in literature including and E-M81.

These two subclades represent the largest proportion of E-M215 population. E-M78 is found over most of the range where E-M215 is found excluding Southern Africa. E-M81 is found mainly in the Maghreb. E-M123 is less common but widely scattered, with significant populations in specific parts of the Horn of Africa, the Levant, Arabia, Iberia, and Anatolia. E-M293 is a fourth major subclade that has been found in parts of Eastern and Southern Africa, includes the majority of unique E-M243 lineages in sub-Saharan Africa (those that lack M78, M81, or M123 mutations).^[8] Many smaller subclades, such as those defined by mutations V6, V42 and V92, appear to be unique to the Horn of Africa region.

Within E-M243 , 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-M243 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 et al. 2011

E-V68

Main article: Haplogroup E-V68 (Y-DNA)

E-V68, is dominated by its longer-known subclade E-M78. 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. E-M78 is a commonly occurring subclade, 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.^[23]

The European distribution has a frequency peak centered in parts of the Balkans (up to almost 50% in some areas)^[3]^[24] and Sicily, and declining frequencies evident toward western, central, and northeastern Europe. Based on genetic STR variance data, Cruciani et al. 2007 suggests that E-M78 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 subclades" and, based on archaeological data, they propose that the point of origin of E-M78 (as opposed to later dispersal 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 onward 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-V22, "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 E-M78

There are four recognized subclades, which were mostly defined by Cruciani et al. 2006.

E-V12 Found in Egypt, Sudan, and other places. Has an important subclade E-V32 which is very common among Ethiopian Oromo, Borana Oromo from Kenya and Somalis.
E-V13 This is the most common type of E-M215 found in Europe and is especially common in the Balkans.
E-V22 Found in Egypt, the Middle East and other places.
E-V65 Associated with the Maghreb, but also found in Italy and Spain.
E-M521 Found in two individuals in Greece by Battaglia et al. 2008

E-Z827

Main article: Haplogroup E-Z827 (Y-DNA)

In human genetics, E-Z827, is the name of a major Y chromosome haplogroup abundantly found in North Africa (especially Maghreb) and to a lesser extent in the Near East, Sub-Saharan Africa and Europe.

E-V257/E-L19

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. Currently, the phylogeny and migratory pattern of L19/V257 is not completely understood. More population samples of this SNP are needed to make any determination on its migratory pattern over the last 5000 years. A project dedicated to researching and understanding the origins of L19/V257 is underway at FamilyTreeDNA.com. The name of the project is E1b1b1b*-A.

E-M81

E-M81 is the most common Y-chromosome haplogroup in the Maghreb, dominated by its subclade E-M183. It is thought to have originated in the area of North Africa 5,600 years ago.^[2]^[25] 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.^[25]^[26]^[27] 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).^[25]^[28]

Distribution of E-M81 in select areas of Africa, Asia and Europe

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 may also have been carried into its currently most common region together with a form of proto-Afroasiatic. On the basis of these possible links, the men who brought E-M81 into northwestern Africa may therefore have come from Asia, or they may represent a "local contribution to the North African Neolithic transition". But there is no autochthonous presence of E-M81 in the Near East, indicating that M81 most likely emerged from its parent clade M243 either in the Maghreb, or possibly as far south as the Horn of Africa.^[15] In Europe, E-M81 is widespread but rare, except in the Iberian Peninsula Spain, where unlike in the rest of Europe^{[Note 6]} it is found at comparable levels to E-M78, with an average frequency of around 5%, and in some regions it is more common. 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.^[19]^[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 subclade 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. There are two recognized subclades of E-M81, although one is much more important than the other.

E-M107

Underhill 2000 found one example of E-M107 in Mali.

E-M183

E-M183 is extremely dominant within E-M81. Karafet et al. 2008 first described it as a subclade of E-M81. The known subclades of E-M183 include:

E-M165 Underhill et al. 2000 found one example in Middle East.
E-L351 Found in two related participants in The E-M243 Phylogeny Project.

E-Z830

This is a recently discovered subclade which has not yet been included in most haplogroup trees, Q-Z830 includes the confirmed subclades of E-M123, E-M293, E-V42, and E-Z830*, and is a sibling clade to E-L19. Currently, the E-M243 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.^[39]^[40]^[41]^[42]

E-M123

Main article: Haplogroup E-M123 (Y-DNA)

E-M123 is mostly known for its major subclade E-M34, which dominates this clade.^{[Note 8]}

E-M293

E-M293 is a subclade of E-M243. It is identified by ISOGG as the second clade within E-Z830. It was discovered before E-Z830, being announced in Henn 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 (2008) in their study also found two Bantu-speaking Kenyan males with the M293 mutation.^[8] Other E-M215 subclades 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 M243 * (former) samples further north". E-P72 appears in Karafet (2008). Trombetta et al. 2011 announced that this is a subclade of E-M293.

E-V42

Trombetta et al. 2011 announced the discovery of E-V42 in two Ethiopian Jews. Like E-V6 and E-V92 it may be restricted to the region around Ethiopia. This is the third known subclade of E-Z830.

E-V92

Trombetta et al. 2011 announced the discovery of E-V92 in two Ethiopian Amhara. Like E-V6 and E-V42 it possibly only exists in the area of Ethiopia.

E-V6

The E-V6 subclade of E-M243 is defined by V6. (Cruciani 2004) [see Table 1] identified a significant presence of these lineages in Ethiopia, and also some in the neighboring Somali population. Among the Ethiopian and Somali samples, the highest were 14.7% among the Ethiopian Amhara, and 16.7% among the Ethiopian Wolayta. One man in Kenya was also observed with the V6 mutation.

Tree

This phylogenetic tree of haplogroup subclades is based on the YCC 2008 tree ^[5] and subsequent published research as summarized by ISOGG.^[4]

E-M215 (M215/PAGES40)
- E-M243 (M243 .1, M243, L336)
  - E-V68 (V68)
    - E-M78 (L18, M78)
  - E-M310 (L19/V257, L335, M310)
    - E-M81 (M81)
  - E-M123 (M123)
    - E-M34 (M34)
  - E-V6 (V6)
  - E-M293 (M293)
    - E-P72 (P72)
  - E-V4 (V42)
  - E-V92 (V92)
- E-M281 (M281, V16)

Tracing Past Human Male Movements in Northern/Eastern Africa and Western Eurasia: New Clues from Y-Chromosomal Haplogroups E-M78 and J-M12

+ Author Affiliations

^*Dipartimento di Genetica e Biologia Molecolare, Sapienza Università di Roma, Rome, Italy
^†Istituto di Biologia e Patologia Molecolari del Consiglio Nazionale delle Ricerche, Rome, Italy
^‡Laboratoire d'Immunologie, Hôpital de Sainte-Marguerite, Marseille, France
^§Laboratoire d'Anthropobiologie, FRE 2960 Centre National de la Recherche Scientifique (CNRS), Université Paul Sabatier, Toulouse, France
^‖Dipartimento di Biologia Cellulare, Università della Calabria, Rende, Italy
^¶Dipartimento di Scienze Ginecologiche Perinatologia e Puericultura, Sapienza Università di Roma, Rome, Italy
^#Departament de Biologia Animal, Universitat de Barcelona, Barcelona, Spain
^**The Swedish Museum of Natural History, Stockholm, Sweden
^††Department of Medical Genetics and Child Development, University of Pécs, Pécs, Hungary
^‡‡Dipartimento di Biologia, Università di Ferrara, Ferrara, Italy
^§§Dipartimento di Biologia Sperimentale, Università di Cagliari, Cagliari, Italy
^‖‖Laboratory of Medical Genetics, General Hospital Maribor, Maribor, Slovenia
^¶¶Institut für Humangenetik, Universität Ulm, Ulm, Germany
^##Institute for Haematology and Blood Transfusion, Prague, Czech Republic
^***ArctAn C Innovative Laboratory, Moscow, Russia
^†††Research Center for Genetic Engineering and Biotechnology, Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia
^‡‡‡Dipartimento di Biologia Animale e dell'Uomo, Sapienza Università di Roma, Rome, Italy
^§§§Dipartimento di Biologia, Università “Tor Vergata”, Rome, Italy

E-mail: rosaria.scozzari@uniroma1.it.

Accepted March 4, 2007.

Abstract

Detailed population data were obtained on the distribution of novel biallelic markers that finely dissect the human Y-chromosome haplogroup E-M78. Among 6,501 Y chromosomes sampled in 81 human populations worldwide, we found 517 E-M78 chromosomes and assigned them to 10 subhaplogroups. Eleven microsatellite loci were used to further evaluate subhaplogroup internal diversification.

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

A single clade within E-M78 (E-V13) highlights a range expansion in the Bronze Age of southeastern Europe, which is also detected by haplogroup J-M12. Phylogeography pattern of molecular radiation and coalescence estimates for both haplogroups are similar and reveal that the genetic landscape of this region is, to a large extent, the consequence of a recent population growth in situ rather than the result of a mere flow of western Asian migrants in the early Neolithic.

Our results not only provide a refinement of previous evolutionary hypotheses but also well-defined time frames for past human movements both in northern/eastern Africa and western Eurasia.

lunes, 29 de octubre de 2012

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