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nine-repeat allele at A7.1 (we found only 3 such alleles out of 800 E[xE3b1] chromosomes analyzed [present study; R.S., unpublished data]), often associated with the uncommon DYS413 24/23 pattern and its one-step neighbors.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 The relatively high frequency of DYS413 24/23 haplogroup E chromosomes in Greece (A.N., unpublished data) suggests that cluster a of the E-M78 haplogroup is common in the Aegean area, too.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.
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. 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.
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.
The data of Cruciani et al. (2007) can be summarized in a table format...
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").
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
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?
- 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?
- 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.
- ↑ 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))