Haplogroup E-M215: Difference between revisions

Haplogroup E1b1b or E-M215
Possible time of origin	approx 26,000 years BP
Possible place of origin	Horn of Africa or Near East
Ancestor	E1b1 or E-P2
Descendants	E1b1b1 or M35
Defining mutations	M215, and most often also M35

In human genetics, Haplogroup E1b1b (formerly known as E3b, as well as Haplogroup 21 or Hg21 and Eu4) is a Y-chromosome haplogroup, a subgroup of haplogroup E. It is defined by the single nucleotide polymorphism (SNP) mutation M215. E1b1b is found in various forms in the Horn of Africa, North Africa, the Mediterranean, Europe, and the Middle East.

The terminology E1b1b is recent, having being proposed in 2008 by Karafet et. al. Since the 2002 "Y Chromosome Consortium" it had been widely referred to as E3b, and prior to that it was referred to as HG21 (Haplogroup 21).

Concerning the defining SNP, almost all men with the mutation M215, also have the mutation M35, which is why M35 was sometimes referred to as the defining SNP. It was in Cruciani et. al.'s 2004 article that M215 was shown to be prior to M35, because there are some lineages which have the M215 mutation, but not M35.

However, most E1b1b (M215) lineages are also within E1b1b1 (M35). (As with other haplogroup names, the speed of new discoveries is leading many writers to use simpler names which simply refer to the SNP being considered, for example M215 or M35).

Origins

According to Cruciani et al. (2004 and 2006), E1b1b and E1b1b1 are believed to have first appeared in the Horn of Africa approximately 26,000 years ago amongst populations that already had lineages with the mutations P2 (also referred to as PN2), as well as DYS391p, P179, P180, and P181.

East Africa is thought to be the place of origin for haplogroup E1b1b because it has: 1) the highest number of different E1b1b clades, 2) a high frequency of this haplogroup and a high microsatellite diversity, and 3) the exclusive presence of the undifferentiated E1b1b* paragroup. However, the fact that Haplogroup E1b1b's parent E clade is closely linked with Haplogroup D, which is not found in Africa, leaves open the possibility that E1b1b first arose in the Near or Middle East and was subsequently carried into Africa by a back migration.

While most sub-branches of E1b1b are thought to have originated in Northeast and North Africa, E1b1b1a2 (V13*), the most common sub-clade of E1b1b1a (M78) among Europeans, appears to have been founded in the northern Levant/Anatolia before dispersing from the Balkans around Europe and the Mediterranean area (Cruciani et al. 2007).

Subclades

Nearly all E1b1b lineages are within E1b1b1 (M35). The most current phylogeny of E1b1b1 (M35) includes the ancestral state (E1b1b1*) plus six branches, which are defined by the following SNPs: M78, M81, M123, M281, V6 and P72.

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 (M215). E1b1b1 is by far the most common sub-clade of E1b1b in Europe, and generally outside of Africa. Together, M78 and M81 form a very significant part of all male lineages in Northeast and North Africa.

The third very significant, but still less well-known, sub-clade of E1b1b1 is E1b1b1c (M123).

The fourth major sub-clade of E1b1b1 to be announced is E3b1f-M293 (Henn et. al. 2008), which is defined by a polymorphism that reveals the monophyletic relationship of the majority of haplotypes of the E1b1b1* clade.

Smaller E1b1b1 sub-clades recognized are defined by the SNP mutations M281, V6, and P72.

E1b1b1a (M78); formerly E3b1a

Estimations of age are difficult and vary greatly, but M78's age has been estimated at about 22 thousand years. This means it is not necessarily significantly younger than M215 itself. Like M215 and M35, M78 is thought have occurred in the Horn of Africa (Cruciani et. al. 2004). The most recent estimates are as follows:

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. (Cruciani et. al. 2007)

It should be noted that the migrations to Europe mentioned above are the ones which are basically localized to Iberia and Southern Italy. Concerning the far more important part of M78 in Europe, see below concerning sub-clade V13.

E1b1b1a has been further divided into subclades by Fulvio Cruciani et. al. (2004, 2006, 2007), on the basis of the following SNP mutations, according to Karafet 2008, and ISOGG.

• E1b1b1a1 (V12). The oldest sub-clade, found mainly in Southern Egyptians (arose ca. 15.2 kya). Lineages with this SNP mutation, but without any of the known sub-clade mutations such as V32 (so "V12*"), were formerly included in Cruciani et al's original (2004) "delta cluster" which he had defined using DYS profiles.

• E1b1b1a1a (M224). This clade is apparently rare. It is discussed in Underhill et al. (2000, 2001); Cruciani et al. (2006). Cruciani et. al. found no exemplars in their 2007 study.
• E1b1b1a1b (V32). This is a sub-clade of V12. It is prevalent in the Horn of Africa among Somalis, Ethiopians, and Eritreans. Before the discovery of V32, (Cruciani et. al. 2004) referred to the same lineages as the "gamma cluster" which is estimated to have arisen ca. 8.5 thousand years ago.

• E1b1b1a2 (V13). (All known positive tests are also positive for V36.)

This the the most prevalent clade among Europeans, especially in the Balkans, where the highest concentrations are amongst Albanians. Also Greeks, Bulgarians, Serbians, and Macedonians show high concentrations. The V13 clade is equivalent to Cruciani et al's (2004) "alpha cluster" and phylogenetic analysis strongly suggest that these lineages have spread through Europe, from the Balkans.

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 2007) - with the latter being considered a genetically isolated community, and therefore of particular interest.

V13 are thought to be suggestive that it was brought to the Balkans along with early farming technologies, during the Neolithic expansion. However Cruciani et. al. (2007) suggests that the timing for dispersal of European V13 from the Balkans may be much more recent, indeed no earlier than 5300 years ago, and this might therefore have been associated with immigrations into Europe associated with the Balkan Bronze age.

Approximate distribution of Cardium Pottery.

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.

There are two recognized sub-clades, both of which may be very small:

• E1b1b1a2a. Defined by V27.
• E1b1b1a2b. Defined by P65.

• E1b1b1a3 (V22). Prevalent in Northeast Africa and Egypt, with higher microsatellite variance (0.35 vs. 0.46, respectively) in Egypt. This clade comprises most of those classified in Cruciani et al's earlier (2004) "delta cluster". There are two recognized sub-clades:

• E1b1b1a3a. Defined by M148.
• E1b1b1a3b. Defined by V19.

• E1b1b1a4 (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 Northeast African origin for this lineage.

E1b1b1b (M81); formerly E3b1b, E3b2

E1b1b: The most common Y haplogroup among North African Arabs and Berbers

E1b1b1b (M81). The most common Y chromosome haplogroup in North Africa. Colloquially referred to as the "Berber marker" for its prevalence among Mozabite, Moyen Atlas, Kabyle and other Amazigh groups. Also quite common among North African Arab groups. Reaches frequencies of up to 80% in the Maghreb.

This haplogroup is also found in significant amounts in the Iberia, Southern Italy and France, probably due to ancient migrations during the Islamic, Roman, and Carthaginian empires.

Individuals with the defining marker for this clade, M81, also test positive, in tests so far, for M183.

There are two recognized sub-clades, although at this time it seems that the majority of M81 is "M81*", meaning that they are not in any of the known sub-clades.

• E1b1b1b1 (M107).
• E1b1b1b2 (M165). Also shows M183.

E1b1b1c (M123); formerly E3b1c, E3b3

This clade is mostly known for its major sub-clade E1b1b1c1 (M34). According to Cruciani et al. (2004), M34 is found at very small frequencies in North Africa and southeastern Europe, and has its highest concentration in Ethiopia and the Near East. However, because the diversity is apparently low in Ethiopia, the authors suggest that M34 was likely introduced into Ethiopia from the Near East. This article located one M123* individual in Bulgaria after testing 3401 individuals from five continents, and Underhill et. al. (2000) located one individual in Central Asia.

Two subclades of E1b1b1c1 are recognized:

• E1b1b1c1a. Defined by SNP mutations M84 and M136
• E1b1b1c1b. Defined by SNP mutation M290

E1b1b1d (M281)

This SNP was discussed in Underhill et al. (2000) and Semino et al. (2002), but Cruciani et. al. (2004) found no cases of this SNP.

E1b1b1e (V6)

Cruciani et al (2004) identified a significant presence of these lineages in Ethiopia, but apparently not elsewhere.

E1b1b1f (P72)

Appears in Karafet et. al. (2008).

E3b1f (M293)

This sub-clade is associated by the authors who announced it with the spread of pastoralism into Southern Africa. See Henn et. al. (2008).

See also

• Human Y-chromosome DNA haplogroup
• E haplogroup

References

• Arredi et al. (2004) A Predominantly Neolithic Origin for Y-Chromosomal DNA Variation in North Africa, American Journal of Human Genetics, 75: 338–345.
• Cruciani et al. (2004) Phylogeographic Analysis of Haplogroup E3b (E-M215) Y Chromosomes Reveals Multiple Migratory Events Within and Out Of Africa, American Journal of Human Genetics, 74: 1014-1022.
• Cruciani et al. (2006) Molecular Dissection of the Y Chromosome Haplogroup E-M78 (E3b1a): A Posteriori Evaluation of a Microsatellite-Network-Based Approach Through Six New Biallelic Markers, Human Mutation.
• Cruciani et al. (2007) Tracing Past Human Male Movements in Northern/Eastern Africa and Western Eurasia: New Clues from Y-Chromosomal Haplogroups E-M78 and J-M12, Molecular Biology and Evolution, 24:1300-1311.
• Henn et. al. (2008) Y-chromosomal evidence of a pastoralist migration through Tanzania to southern Africa. See comment on Dienekes blog and public release.
• Karafet et al, (2008) New Binary Polymorphisms Reshape and Increase Resolution of the Human Y-Chromosomal Haplogroup Tree. Abstract. Genome Research, published online April 2, 2008. Supplementary Material.
• Luis et al. (2004) The Levant versus the Horn of Africa: Evidence for Bidirectional Corridors of Human Migrations, American Journal of Human Genetics, 74: 532-544.
• Peričic et al. (2005) High-Resolution Phylogenetic Analysis of Southeastern Europe Traces Major Episodes of Paternal Gene Flow Among Slavic Populations, Molecular Biology and Evolution 2005 22(10):1964-1975
• Rosser et al. (2000) Y-Chromosomal Diversity in Europe Is Clinal and Influenced Primarily by Geography, Rather than by Language, American Journal of Human Genetics, 67: 1526-1543.
• Semino et al. (2004) Origin, Diffusion, and Differentiation of Y-Chromosome Haplogroups E and J: Inferences on the Neolithization of Europe and Later Migratory Events in the Mediterranean Area, American Journal of Human Genetics, 74: 1023–1034.
• Semino O, et. al. (2002) Ethiopians and Khoisan share the deepest clades of the human Y-chromosome phylogeny. Am J Hum Genet 70:265–268
• Underhill PA, et. al. (2000) Y chromosome sequence variation and the history of human populations. Nat Genet 26:358–361.
• Underhill PA, et. al. (2001)The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations. Ann Hum Genet. 65:43–62.
• YCC (2002) A Nomenclature System for the Tree of Human Y-Chromosomal Binary Haplogroups Genome Research, Vol. 12, Issue 2, 339-348, February 2002

External links

• E3b Y-DNA Project at FTDNA
• E3b Y-DNA Project (all labs site)
• E3b Public Forum
• Jewish E3b Project at FTDNA
• Map of E3b1 distribution in Europe