Misplaced Pages

Haplogroup E-M215

Article snapshot taken from Wikipedia with creative commons attribution-sharealike license. Give it a read and then ask your questions in the chat. We can research this topic together.

This is an old revision of this page, as edited by Wapondaponda (talk | contribs) at 22:35, 12 June 2009 (→Origins: social commentary, nothing to do with origins). The present address (URL) is a permanent link to this revision, which may differ significantly from the current revision.

Revision as of 22:35, 12 June 2009 by Wapondaponda (talk | contribs) (→Origins: social commentary, nothing to do with origins)(diff) ← Previous revision | Latest revision (diff) | Newer revision → (diff)
Haplogroup E1b1b or E-M215
Possible time of originapprox 26,000 years BP
Possible place of originEast Africa
AncestorE1b1
DescendantsE1b1b1 or E-M35
Defining mutationsM215, and most often also M35

In human genetics, Y Haplogroup E1b1b (E-M215) is a Y-chromosome haplogroup, a sub-group of haplogroup E, which is defined by the single nucleotide polymorphism (SNP) mutation M215. It is one of the major genetically distinguished paternal lines of the human race, linking from father-to-son back to a common male ancestor. E1b1b probably first came into existence somewhere in the area of the Red Sea, most probably in or near the Horn of Africa, and then expanded both into the Near East and westwards, north and south of the Mediterranean Sea.

In nearly all discussion, E1b1b is equivalent to its very dominant sub-clade, E1b1b1 (E-M35), which contains nearly all of E1b1b. Cruciani et al. (2004) announced the discovery that M215 was older than M35, because that survey found that some lineages which have the M215 mutation, do not have M35. On that basis this article covers both clades, but is named after the slightly larger one.

As discussed in more detail below, E1b1b is presently found in various forms in the Horn of Africa, North Africa, parts of Eastern and Southern Africa, West Asia, and Europe (especially the Mediterranean and the Balkans).

E1b1b and E1b1b1 are quite common amongst populations speaking an Afro-Asiatic language. According to at least some theories on the origins of this linguistic group, such as those advanced by Christopher Ehret, Afro-Asiatic and E1b1b1 may have dispersed amongst the same populations from the same point of origin, making E-M35 a useful tool for speculation into the origins of Afro-Asiatic (Ehret et al. (2004)). However, this hypothesis is disputed by those who suggest a Levantine origin for Afro-Asiatic.

Amongst populations with an Afro-Asiatic speaking history, a significant proportion of all Jewish male lines are made up of a wide variety of E1b1b1 (E-M35) sub-clades. Behar et al. (2003) found only haplogroup J lineages in higher numbers amongst Ashkenazim. The authors also found E1b1b to be, along with haplogroup J, one of the major founding lineages among Ashkenazi Jews. E1b1b is observed in over 22.8% of Ashkenazis and 30% of Sephardim. The variety of sub-clades is felt by many researchers to be a potential lead in seeking a better understanding of Jewish population movements over the centuries.

Other Names, and history of the classification

The current phylogenetic terminology "E1b1b" and "E1b1b1" was proposed by Karafet et al. (2008). This paper was intended to be an update of the "Y Chromosome Consortium"(YCC (2002) harvcoltxt error: no target: CITEREFYCC2002 (help)). The YCC first formalized the original phylogenetic nomenclature - "E3b" (E-M215) and "E3b1" (E-M35) - which is still found widely especially in older literature.

It was also the 2002 consortium which proposed guidelines on the mutation nomenclature, "E-M215" and "E-M35". The mutation-based clade names have increasingly been used since then because they avoid the confusion which comes from the increasingly frequent discoveries of new SNP mutations - for example when older and newer literature is being compared.

Prior to Cruciani et al. (2004), both E1b1b and E1b1b1, not yet distinguished at that time, had been referred to as Hg21 (Haplogroup 21) within Zerjal et al. (1999)'s nomenclature, or as Eu4 according to Semino et al. (2000)'s classification.

They were also within Underhill et al. (2001)'s "Group III", and in terms of "p49/TaqI" tests, E-M35 came within Haplotype V. (It should be generally be kept in mind that some older haplogroup testing methods could not distinguish between related clades in a way perfectly consistent with more recent findings.)

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

Origins

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

Concerning the origins of the E1b1b lineage, Bosch et al. (2001), Semino et al. (2004), Cruciani et al. (2004), (2006), and (2007), point to evidence that not only E1b1b (E-M215), but also both its parent lineage E1b1 (E-P2), and its dominant sub-clade E1b1b1 (E-M35) probably all first appeared in East Africa between 20,000 and 47,500 years ago. There are different techniques available for such estimates, and a considerable range of possibilities, but the most recent estimates of Cruciani et al. (2007) are around 22,400 years ago for E-M215 or E-M35.

All major sub-branches of E1b1b1 are thought to have originated in the same general area as the parent clade: in North Africa, the Horn of Africa, or the Near East. Underhill (2002) believes that the structure and regional pattern of E-M35 sub-clades potentially give "reagents with which to infer specific episodes of population histories associated with the Neolithic agricultural expansion". Concerning European E-M35 within this scheme, Underhill and Kivisild (2007) have remarked that E1b1b seems to represent a late-Pleistocene migration from Africa to Europe over the Sinai Peninsula in Egypt.

Subclades of E1b1b1 (E-M35)

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

Turning to E-M35, the most current phylogeny of E1b1b1 includes the individuals with no known sub-clade mutations (who are therefore said to be in the "ancestral state" referred to as E1b1b1* or E-M35*) plus seven known "derived" branches, which are defined by the following SNPs: M78, M81, M123, M281, V6, P72, and M293, all of which are discussed below.

The two most written-about sub-clades of E1b1b1 are E1b1b1a (defined by M78) and E1b1b1b (defined by M81), both are associated with the Mediterranean. They are thought to represent the two sub-clades with the largest populations within E1b1b. E1b1b1a is by far the most common sub-clade of E1b1b in Europe, the Near East and generally outside of Africa. It is also common in North Africa and the Horn of Africa. E1b1b1b is found mainly in the Maghreb, but it is also found mainly in very low frequencies in neighbouring areas of Africa, Europe and the Near East.

A third very significant sub-clade of E1b1b1 is E1b1b1c (defined by M123). It is found both in and out of Africa, but probably had a Near Eastern origin. (See below.)

The fourth major sub-clade of E1b1b1 to be announced (Henn et al. 2008) is defined by M293, an SNP or polymorphism that has been found in parts of Eastern and Southern Africa, and is thought by the authors who announced it to include the majority of E-M35 lineages in sub-Saharan Africa which do not have the mutations M78, M81 or M123.

Smaller E1b1b1 sub-clades recognized are defined by the SNP mutations M281, V6, and P72. The first two at least appear to be unique to the Horn of Africa area.

E1b1b1a (E-M78); formerly E3b1a

File:Haplogroup E-M78 Cruciani 2007.png
Distribution density of E1b1b1a (E-M78) according to Cruciani et al. (2007).

E1b1b1a (E-M78) is a commonly occurring subclade, widely distributed in North Africa , the Horn of Africa, West Asia "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%) and Italy (see below) and declining frequencies evident toward western, central, and northeastern Europe.

Based on genetic STR variance data, Cruciani et al. (2007) suggests that this subclade originated in "Northeastern Africa", which in the study refers specifically to Egypt and Libya. The E-M78 mutation is thought to have occurred about 18,600 years ago (17,300 - 20,000 years ago), with some possibility that it may have been more recent. 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".

The Nile River and its main tributaries: a probable corridor of ancient human migrations, including those involving the Y DNA lineages E1b1b1 (E-M35), E1b1b1a (E-M78), E1b1b1a1 (E-V12), and E1b1b1a3 (E-V22).

Prior to Cruciani et al. (2007), Semino et al. (2004) had proposed the Horn of Africa as a possible place of origin of E-M78. This was because of the high frequency and diversity of E-M78 lineages in the region. For example, Sanchez et al. (2005) found that 77.6% of 201 male Somalis tested in Denmark were members of this clade. However, Cruciani et al. (2007) were able to study more data, including populations from North Africa who were not represented in the Semino et al. (2004) study, and found evidence that the E-M78 lineages in the Horn of Africa were relatively recent branches (see E1b1b1a1b (E-V32) below). They 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 Cruciani et al. (2007), 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. Cruciani et al. (2007) also note this as evidence for "a corridor for bidirectional migrations" (conceivably the Nile River Valley) 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".

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

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

E1b1b1a1 (E-V12)

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

Undifferentiated E-V12* lineages (not E-V32 or E-M224, so therefore named "E-V12*") are found at especially high levels (44.3%) in Southern Egyptians, but also scattered widely in small amounts in both Northern Africa and Europe, but with very little sign in Western Asia, apart from Turkey. These E-V12* lineages were formerly included (along with many E-V22* lineages) in Cruciani et al.'s original (2004) "delta cluster", which he had defined using DYS profiles. With the discovery of the defining SNP, Cruciani et al. (2007) reported that V-12* was found in its highest concentrations in Egypt, especially Southern Egypt. Hassan et al. (2008) report a significant presence of E-V12* in neighboring Sudan, including 5/33 Copts and 5/39 Nubians. E-V12* made up approximately 20% of the Sudanese E-M78. They propose that the E-V12 and E-V22 sub-clades of E1b1b1a (E-M78) might have been brought to Sudan from their place of origin in North Africa after the progressive desertification of the Sahara around 6,000–8,000 years ago. Sudden climate change might have forced several Neolithic cultures/people to migrate northward to the Mediterranean and southward to the Sahel and the Nile Valley. The E-V12* paragroup is also observed in Europe (e.g. amongst French Basques) and Eastern Anatolia (e.g. Erzurum Turks).

Sub Clades of E1b1b1a1 (E-V12):

E1b1b1a1a (E-M224)

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

E1b1b1a1b (E-V32)

Cruciani et al. (2007) suggest that this sub-clade of E-V12 originated in North Africa , and then subsequently expanded further south into the Horn of Africa, where it is now prevalent. Before the discovery of V32, Cruciani et al. (2004) referred to the same lineages as the "gamma cluster", which was estimated to have arisen about 8,500 years ago. They stated that "the highest frequencies in the three Cushitic-speaking groups: the Borana from Kenya (71.4%), the Oromo from Ethiopia (32.0%), and the Somali (52.2%). Outside of eastern Africa, it was found only in two subjects from Egypt (3.6%) and in one Arab from Morocco". Sanchez et al. (2005) found it extremely prominent in Somali men and stated that "the male Somali population is a branch of the East African population – closely related to the Oromos in Ethiopia and North Kenya (Boranas)" and that their gamma cluster lineages "probably were introduced into the Somali population 4000–5000 years ago". Hassan et al. (2008) in their study observed this to be the most common of the sub-clades of E-M78 found in Sudan, especially among the Beja, Masalit, and Fur. The Beja, like Somalis and Oromos, speak an Afro-Asiatic language and live along the "corridor" from Egypt to the Horn of Africa. Hassan et al. (2008) interpret this as reinforcing the "strong correlation between linguistic and genetic diversity" and signs of contact between the Beja and the peoples of the Horn of Africa such as the Amhara and Oromo. On the other hand, the Masalit and Fur live in Darfur and speak a Nilo-Saharan language. The authors observed in their study that "the Masalit possesses by far the highest frequency of the E-M78 and of the E-V32 haplogroup", which they believe suggests "either a recent bottleneck in the population or a proximity to the origin of the haplogroup."

The STR data from Cruciani et al. (2007) concerning E-V12 can be summarized as follows...

Haplotype description YCAIIa YCAIIb DYS413a DYS413b DYS19 DYS391 DYS393 DYS439 DYS460 DYS461 A10
E-V12* modal 19 22 22 22 13 10 13 11 11 9 13
min 18 21 20 21 11 10 12 11 8 8 11
max 19 22 22 23 15 12 14 13 12 10 14
number 40 40 40 40 40 40 40 40 40 40 40
E-V32 modal 19 21 22 23 11 10 13 12 10 10 13
min 19 19 20 21 11 9 12 11 9 10 11
max 20 22 22 24 11 11 13 13 12 11 14
number 35 35 35 35 35 35 35 35 35 35 35
All E-V12 modal 19 22 22 23 11 10 13 11 11 10 13
min 18 19 20 21 11 9 12 11 8 8 11
max 20 22 22 24 15 12 14 13 12 11 14
number 75 75 75 75 75 75 75 75 75 75 75
E1b1b1a2 (E-V13)

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

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

— Cruciani et al. (2007)

Within Europe, E-V13 is especially common in the Balkans and some parts of Italy. In different studies, particularly high frequencies have been observed in Kosovar Albanians (45.6%) (Peričic et al. (2005)), Albanian speakers of the Former Yugoslavian Republic of Macedonia (34.4%) (Battaglia et al. (2008)), and Peloponnesian Greeks (47%) . More generally, high frequencies have also been found in other areas of Greece, and amongst Bulgarians, Romanians, Macedonians, and Serbs.

Within Italy, frequencies tend to be higher in Southern Italy, with particularly high results sometimes seen in particular areas, for example Santa Ninfa and Piazza Armerina in Sicily. High frequencies have also been observed in some northern areas, for example around Venice, and Rimini, both in the northwest of Italy, as well as on the island of Corsica

Phylogenetic analysis strongly suggest that these lineages have spread through Europe, from the Balkans in a "rapid demographic expansion". 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. The Druze are considered a genetically isolated community, 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. This 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

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

E-V13 and Ancient Migrations

The apparent movement of E-M78 lineages from the Near East to Europe, and their subsequent rapid expansion, make its E-V13 sub-clade a particularly interesting subject for speculation about ancient human migrations.

The distribution of V-13 in Europe
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.

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

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. However, Battaglia et al. (2008) propose that the E-M78* lineage ancestral to all modern E-V13 men moved rapidly out of a Southern Egyptian homeland, in the wetter conditions of the early Holocene; arrived in Europe with only Mesolithic technologies and then only subsequently integrated with Neolithic cultures which arrived later in the Balkans. They then suggest that the E-V13 sub-clade of E-M78 originated in situ in Europe, and propose that 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.

Concerning dispersal from the Balkans Cruciani et al. (2007) suggest in contrast to Battaglia et al. that this may have been more recent than 5300 years ago. The authors 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.

E-V13 is in any case generally described in population genetics as one of the components of the European genetic composition which shows the contribution made by the populations who dispersed Neolithic technology. As such, it also represents a relatively recent genetic movement out of Africa into Eurasia, and has been described "a signal for a separate late-Pleistocene migration from Africa to Europe over Sinai ... which is not manifested in mtDNA haplogroup distributions".

Greek Soldiers in Pakistan

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

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

— Firasat et al. (2006)
Roman soldiers in Britain

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

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.

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").

E1b1b1a3 (E-V22)

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

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

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

Sub Clades of E1b1b1a3 (E-V22): There are two recognized sub-clades, which are apparently separate, although Karafet (2008) harvcoltxt error: no target: CITEREFKarafet2008 (help) remarked that at the time of that article, "the positions of these mutations have not been resolved because of a lack of a DNA sample containing the derived state at V19".
E1b1b1a4 (E-V65)

This sub-clade, equivalent to the previously classified "beta cluster", is found in high levels in the Maghreb regions of far northern Africa. Cruciani et al. (2007) report levels of about 20% amongst Libyan Arab lineages, and about 30% amongst Morrocan Arabs. It appears to be less common amongst Berbers, but still present in levels of >10%. The authors suggest a North African origin for this lineage. In Europe, only a few individuals were found in Italy and Greece. The results from the article can be summarized as follows...

E-V65 YCAIIa YCAIIb DYS413a DYS413b DYS19 DYS391 DYS393 DYS439 DYS460 DYS461 A10
modal 19 21 21 23 13 10 13 10 10 11 13
min 19 20 20 22 11 10 13 10 9 9 12
max 21 21 22 23 14 11 14 11 11 12 13
number 38 38 38 38 38 38 38 38 38 38 38

Capelli et al. (2009) studied the beta cluster in Europe. They found small amounts in Southern Italy, but also traces in Cantabria, Portugal and Galicia, with Cantabria having the highest level in Europe in their study, at 3.1% (out of 161 people).

E1b1b1a5 (E-VM521)

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

E1b1b1b (E-M81); formerly E3b1b, E3b2

File:Robino algeria M81.png
Contour map showing approximate modern E-M81 distribution, from Robino et al. (2008).

E1b1b1b (E-M81) 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. It is colloquially referred to as the "Berber marker" for its prevalence among Mozabite, Moyen Atlas, Kabyle and other Amazigh groups, E-M81 is also quite common among North African Arab groups. It reaches frequencies of up to 80% in the Maghreb. This includes the Saharawish for whose men Bosch et al. (2001) reports that approximately 76% are M81+.

In this key area from Egypt to the Atlantic Ocean, Arredi et al. (2004) report a pattern of decreasing STR haplotype variation from East to West, accompanied by a substantial increasing frequency. On the other hand Kujanova et al. (2009) harvcoltxt error: no target: CITEREFKujanova_et_al.2009 (help) 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 herding 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".

In Europe, E-M81 is found everywhere but mostly in the Iberian Peninsula, where it is more common than E-M78 unlike in the rest of Europe at an average frequency of 4-5.6%, with frequencies reaching 9% in Galicia, 10% in Western Andalusia and Northwest Castile and 13 % in Cantabria. The highest frequency of this clade found so far in Europe has been observed at 40% the Pasiegos from Cantabria.

E-M81 is also found in Sicily, and in slightly lower frequencies in continental Italy (especially near Lucera) and France, possibly due to ancient migrations during the Islamic, Roman, and Carthaginian empires, as well as the influence of Sephardic Jews.

As a result of its old world distribution, this sub-clade is found throughout Latin America, for example 6.1% in Cuba, 5.4% in Brazil (Rio de Janeiro), and among Hispanic men in the United States.

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, although one is much more important than the other.

Sub Clades of E1b1b1b (E-M81):
  • E1b1b1b1 (E-M107). Underhill et al. (2000) found one example in Mali.
  • E1b1b1b2 (E-M183). This clade is extremely dominant within E-M81. In fact, while Karafet et al. (2008) continues to describe this as a sub-clade of E-M81, and ISOGG defers to Karafet et al., all data seems to imply that it should actually be considered phylogenetically equivalent to M81. As of 24th November 2008, several SNPs are considered to define sub-clades of E-M183, although the phylogenetic structure is not yet known with confidence: M165, M243, M340, and L19.

E1b1b1c (E-M123); formerly E3b1c, E3b3

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

Concerning E-M123* (tested and definitely without E-M34) Cruciani et al. (2004) located one individual in Bulgaria after testing 3401 individuals from five continents, and Underhill et al. (2000) located one individual in Central Asia. In a 568 person study in Iberia, Flores et al. (2004) found 2 E-M123* individuals, both in Northern Portugal out of 109 people tested there. In a 553 person study of Portugal, Gonçalves et al. (2005) also found 2 E-M123* individuals in Northern Portugal, out of 101 people, as well as 2 in Madeira out of 129 people tested there. Flores et al. (2005) found one individual out of 146 Jordanians. Cadenas et al. (2007) found none amongst the significant presence of E-M34 they found in their study of the UAE, Yemen and Qatar. Arredi et al. (2004) found 1 Tunisian in their study of 275 men in Northern Africa.

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

Concerning E1b1b1c1 (E-M34) Cruciani (2004) harvcoltxt error: no target: CITEREFCruciani2004 (help) tested for E-M34 in Oman and found 7.7% to be E-M34+, with no E-M123*. According to Cruciani (2004) harvcoltxt error: no target: CITEREFCruciani2004 (help), E-M34 is found at small frequencies in North Africa and Southern Europe (6.6% in Sicily for example), and has its highest concentration in Ethiopia and the Near East (with highest levels in Oman and Turkey). However, because the diversity is apparently low in Ethiopia, the authors suggest that E-M34 was likely introduced into Ethiopia from the Near East. In Turkey, Cinnioğlu et al. (2004) found slightly more E-M34 (29) than E-M78 (26) out of 523 individuals tested (a far different E1b1b population than found in the nearby Balkans). In Flores et al. (2004) E-M34 was found in several parts of Iberia, but most strikingly about 10% in Galicia. Gonçalves et al. (2005) found about the same levels of E-M34 in Portugal as E-M123*, but E-M34 mainly in Central Portugal (4 people out of 102 tested there) with one more person found in the Açores. Strikingly, Flores et al. (2005) found 14 out of 45 men tested in the Dead Sea area of Jordan to be M34 positive (31.1%), while in the capital Amman there were only 4 out of 101. Cadenas et al. (2007) found 8.1% of 62 men tested in Yemen were positive for M34, compared to much lower levels in Qatar (1.4%) and the UAE (3.1%). Arredi et al. (2004) found 2 Tunisians, 2 Algerians, and 7 Egyptians in their study of 275 men in Northern Africa.

E-M123 in Jews. Looking beyond simple regional concentrations, E1b1b1c (E-M123) is also quite common among both Ashkenazi and Sephardic Jews, accounting for over 10% of all male lines. Coffman-Levy (2005) wrote that:

...the best candidate for possible E3b Israelite ancestry among Jews is E-M123. This sub-clade occurs in almost the same proportions (approximately 10-12%) among both Ashkenazim and Sephardim (Semino et al. (2004)). According to Cruciani (2004) harvcoltxt error: no target: CITEREFCruciani2004 (help), E-M123 probably originated in the Middle East, since it is found in a large majority of the populations from that area, and then back-migrated to Ethiopia. He further notes that this sub-clade may have been spread to Europe during the Neolithic agricultural expansion out of the Middle East. However, because E-M123 is also found in low percentages (1-3%) in many southern European and Balkan populations, its origin among Jewish groups remains uncertain (Semino et al. (2004)). Yet the fact that both Sephardim and Ashkenazim possess this sub-clade in similar high frequency supports an Israelite/Middle Eastern origin.

Sub Clades of E1b1b1c1 (E-M34):
  • E1b1b1c1a. Defined by SNP mutation M84, with M136 defining a sub-clade, E1b1b1c1a1 as of October 2008. The E-M35 Phylogeny Project estimates based on testing so far (in January 2009) that E-M84 is dominant in 6 out of the 8 clusters of E-M34 which that project identifies.
  • E1b1b1c1b. Defined by SNP mutation M290. Shen et al. (2004) found 1 Palestinian exemplar.

E1b1b1d (E-M281)

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

E1b1b1e (E-V6)

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

E1b1b1f (E-P72)

Appears in Karafet et al. (2008). Little has been published about this sub-clade of E-M35. Note also the potential for name confusion with E-M293 below.

E1b1b1g (E-M293)

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

Other E1b1b sub-clades are rare in Southern Africa. The authors state...

Without information about M293 in the Maasai, Hema, and other populations in Kenya, Sudan, and Ethiopia, we cannot pinpoint the precise geographic source of M293 with greater confidence. However, the available evidence points to present-day Tanzania as an early and important geographic locus of M293 evolution.

They also say that "M293 is only found in sub-Saharan Africa, indicating a separate phylogenetic history for M35* (former) samples further north".

The authors Henn et al. referred to this sub-clade with the proposed name E3b1f. However, this name was already out of date by the time the article was published since E1b1b1 had become the new YCC and ISOGG name for former E3b1, the clade defined by SNP M35. The sub-clade under E1b1b1 with the suffix "f" had also already been proposed in Karafet et al. (2008) for SNP P72 (see above). So the phylogenetic clade name came to be E1b1b1g in late October 2008.

See also

Phylogenetic tree of human Y-chromosome DNA haplogroups
This article needs to be updated. Please help update this article to reflect recent events or newly available information. (February 2021)
"Y-chromosomal Adam"
A00 A0-T 
A0 A1 
A1a A1b
A1b1 BT
B CT
DE CF
D E C F
F1  F-Y27277   F3  GHIJK
G HIJK
IJK H
IJ K
I   J     LT        K2 
I1   I2  J1   J2  L     T  K2e K2d K2c K2b   K2a
K2b1    P  K-M2313 
S   M     P1   NO1
P1c P1b P1a N O
R Q
Footnotes
  1. Van Oven M, Van Geystelen A, Kayser M, Decorte R, Larmuseau HD (2014). "Seeing the wood for the trees: a minimal reference phylogeny for the human Y chromosome". Human Mutation. 35 (2): 187–91. doi:10.1002/humu.22468. PMID 24166809. S2CID 23291764.
  2. International Society of Genetic Genealogy (ISOGG; 2015), Y-DNA Haplogroup Tree 2015. (Access date: 1 February 2015.)
  3. Haplogroup A0-T is also known as A-L1085 (and previously as A0'1'2'3'4).
  4. Haplogroup A1 is also known as A1'2'3'4.
  5. F-Y27277, sometimes known as F2'4, is both the parent clade of F2 and F4 and a child of F-M89.
  6. Haplogroup LT (L298/P326) is also known as Haplogroup K1.
  7. Between 2002 and 2008, Haplogroup T-M184 was known as "Haplogroup K2". That name has since been re-assigned to K-M526, the sibling of Haplogroup LT.
  8. Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS.
  9. Haplogroup K2b1 (P397/P399) is also known as Haplogroup MS, but has a broader and more complex internal structure.
  10. Haplogroup P (P295) is also klnown as K2b2.
  11. K-M2313*, which as yet has no phylogenetic name, has been documented in two living individuals, who have ethnic ties to India and South East Asia. In addition, K-Y28299, which appears to be a primary branch of K-M2313, has been found in three living individuals from India. See: Poznik op. cit.; YFull YTree v5.08, 2017, "K-M2335", and; PhyloTree, 2017, "Details of the Y-SNP markers included in the minimal Y tree" (Access date of these pages: 9 December 2017)
  12. Haplogroup S, as of 2017, is also known as K2b1a. (Previously the name Haplogroup S was assigned to K2b1a4.)
  13. Haplogroup M, as of 2017, is also known as K2b1b. (Previously the name Haplogroup M was assigned to K2b1d.)

Notes

  1. ^ Cruciani et al. (2004)
  2. ^ ISOGG (2008) Cite error: The named reference "isogg" was defined multiple times with different content (see the help page).
  3. ^ Karafet et al. (2008)
  4. Y Chromosome Consortium "YCC" (2002)
  5. ^ Semino et al. (2004)
  6. Firasat et al. (2006)
  7. Rosser et al. (2000)
  8. Also see Keita and Boyce (2005).
  9. The only major linguist to argue for a Levantine origin of Afro-Asiatic is Alexander Militarev, but some archaeologists who argue for Neolithic "demic diffusion" such as Peter Bellwood argue that there is no significant archaeological evidence to support assuming an African origin, and that the subsequent spread of Semitic languages, in particular, has likely erased much of the original phylogenetic geography of the Afro-Asiatic language family, making it difficult to pinpoint the geographical source of this linguistic phylum (Ehret et al. (2004)).
  10. Behar et al. (2003). See Table 2.
  11. Behar et al. (2003). "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."
  12. Nebel et al. (2001)
  13. Coffman-Levy (2005)
  14. "Both phylogeography and microsatellite variance suggest that E-P2 and its derivative, E-M35, probably originated in eastern Africa. 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*."
  15. "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).
  16. Cruciani et al. (2006)
  17. ^ Cruciani et al. (2007) Cite error: The named reference "Cruciani2007" was defined multiple times with different content (see the help page).
  18. For E1b1b (M-215) Cruciani et al. reduced their 2004 estimates from 25,600 in 2004 to 22,400 in 2007, re-calibrating the same data.
  19. As explained above, 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.
  20. "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."Underhill and Kivisild (2007:547)
  21. Cruciani et al. (2007):E-M78 shows "a wide geographic distribution" and is "relatively common not only in northeastern and eastern Africa but also found in Europe and western Asia, up to Southern Asia".
  22. Cruciani et al. (2006): "The human Y chromosome haplogroup E-M78 (E3b1a) occurs commonly and is distributed in northern and eastern Africa, western Asia, and all of Europe."
  23. Peričic et al. (2005)
  24. Cruciani et al. (2007) use the term "Northeastern Africa" to refer to Egypt and Libya, as shown in Table 1 of the study.
  25. Cruciani et al. (2007) 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 the the big difference is "attributable to the relevant departure from a star-like structure because of repeated founder effects"
  26. Cruciani et al. (2004): "E-V22 and E-V12* chromosomes are intermingled and not clearly differentiated by their microsatellite haplotypes". In Cruciani et al. (2007) the same authors show that a branch of E-V13 found amongst the Druze Arabs is also in the delta cluster. (Contrast the data tables of Cruciani et al. (2007) and Cruciani et al. (2004).)
  27. Hassan et al. (2008)
  28. Cruciani et al. (2004), Rosser et al. (2000), Peričic et al. (2005), King et al. (2008)
  29. Di Gaetano et al. (2008)
  30. 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).
  31. Pelotti et al. (2007)
  32. Francalacci et al. (2003)
  33. Shlush et al. (2008)
  34. See especially Cruciani et al. (2007)
  35. Semino et al. (2000), King and Underhill (2002) Underhill (2002)
  36. Underhill and Kivisild (2007)
  37. 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.
  38. 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.
  39. 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.
  40. Rosa et al. (2007) in a study of Guinea Bissau, showed that the Fulani there are about 10% E-M78. Note that this study did not test specifically for V12 or V22, so the E-M78 may have a different exact breakdown of diversity as well as a lower frequency.
  41. Arredi et al. (2004)
  42. Adams et al. (2008), shows an average frequency of 4% in the Iberian Peninsula with frequencies reaching 9% in Galicia, 10% in WesternAndalusia and Northwest Castile, see table.
  43. Flores et al. (2005), Beleza et al. (2006) harvcoltxt error: no target: CITEREFBeleza_et_al.2006 (help), Adams et al. (2008), Capelli et al. (2009)
  44. Gaetano et al. (2008) harvcoltxt error: no target: CITEREFGaetano_et_al.2008 (help)
  45. Capelli et al. (2009)
  46. Gonçalves et al. (2005)
  47. (8 out of 132), Mendizabal et al. (2008)
  48. (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 5.6% in Portugal (Beleza et al., 2006), quite similar to the frequency found in Rio de Janeiro (5.4%) among European contributors.", Silva et al. (2006)
  49. 2.4% (7 out of 295) among Hispanic men from California and Hawaii, Paracchini et al. (2003)
  50. 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.
  51. Semino et al. (2004)) Table 1
  52. Henn et al. (2008:10695)
  53. 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

References

External links

Categories: