E-M78 is a Y chromosome haplogroup defined by the mutation M78. It is a sub-clade of E-V68. It's phylogenetic name according to the E haplogroup page on ISOGG's website is E1b1b1a. The name will need updating to E1b1b1a1, with the discovery of V68 in Trombetta et al. (2011).
E1b1b1a (E-M78) is the most common and widely distributed of the major identified sub-clades of E-M35.
The core area of its distribution is in a curve from the Maghreb to the Horn of Africa. It is also common in parts of the Balkans, Italy, and the Middle East. In small but significant amounts it is found dispersed as far east as India, and as far north as Scotland and Denmark.
The European distribution has a frequency peak centered in the Balkans and some parts of Italy.
In different studies, particularly high frequencies have been observed in Kosovar Albanians (45.6% in Peričic et al. (2005)), Albanian speakers of the Former Yugoslavian Republic of Macedonia (34.4% in Battaglia et al. (2008)), and Peloponnesian Greeks (47% in Semino et al. (2004)).
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)).
Based on genetic data, this subclade is thought to have originated in the area of Egypt roughly 10,000 - 20,000 years ago.
Cruciani et al. (2007) use the term "Northeastern Africa" for the likely place of origin of this clade, and in their data this refers to Libya and Egypt for example. This is shown in their Table 1, which shows no data for Sudan. The authors used two calculation methods for estimating the age of E-M78 which give very different results, 17.3-20kya or else 13.7kya with a standard deviation of 2.3kya. The big difference in results, which was not seen in other clades in that paper, is "attributable to the relevant departure from a star-like structure because of repeated founder effects".
Battaglia et al. (2008) also describe Egypt as "a hub for the distribution of the various geographically localized M78-related sub-clades" and they propose that the point of origin of E-M78 (as opposed to this 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 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".
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 amongst Somalis are dominated by a relatively recent branching of the E-V32 sub-clade of E-V12, an ancient sub-clade of E-M78 which appears to have originated in Egypt or Libya. They note this as evidence for "a corridor for bidirectional migrations" (conceivably the Nile River Valley) between Egypt and Libya on the one hand and the Horn of 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 (around Egypt and Libya) 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, via the Balkans.
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 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.
The ISOGG phylogeny, in February 2009, was as follows (phylogenetic clade name given first, and then defining UEP)...
- E1b1b1a M78, V68 (E-M78)
- E1b1b1a* (refers to lineages which have not yet been defined by SNP) (E-M78*)
- E1b1b1a1 V12 (E-V12)
- E1b1b1a2 V13, V36 (E-V13)
- E1b1b1a2* (refers to lineages which have not yet been defined by SNP)
- E1b1b1a2a V27
- E1b1b1a2b P65
- E1b1b1a2c L17 (apparently a private SNP, discovered by FT DNA working with members of the E-M35 phylogeny project)
- E1b1b1a3 V22 (E-V22)
- E1b1b1a3* (refers to lineages which have not yet been defined by SNP)
- E1b1b1a3a M148
- E1b1b1a3b V19
- E1b1b1a4 V65 (E-V65)
- E1b1b1a5 M521 (E-M521, found in Greece and announced in Battaglia et al. (2008))
Many databases available, including our own E-M35 Phylogeny database, have a European bias, which means that they give modal results close to E-V13, the dominant type of E-M78 in Europe. The best collection of STR so far for avoiding this is that of Cruciani et al (2007). However the disadvantage of this list is the small number of markers used, and the fact that these are not comparable to many other databases. Look especially to the "modal of modals" which is a less biased estimate of the ancestral haplotype than any European database:-
|Cruciani E-M78 modals (compare to E-V13)||21||19||24||23||13||10||13||12||9||10||13|
|Cruciani modal of below sub-group modals||21||19||23||22||13||10||13||12||11||9||13|
|Cruciani E-M78* modals||21||19||25||21||13||10||13||12||10||11||12|
|Cruciani all E-V12 modals||22||19||22||22||14||10||13||11||11||9||13|
|Cruciani E-V12* modals||22||19||22||22||14||11||12||11||11||9||13|
|Cruciani E-V32 modals||21||19||23||22||11||10||13||12||10||10||13|
|Cruciani E-V13 modals||21||19||24||23||13||10||13||12||9||10||13|
|Cruiciani Druze E-V13 modals||21||19||23||23||13||10||13||13||11||9||13|
|Cruciani E-V22 modals||22||19||23||22||14||10||13||12||11||10||12|
|Cruciani E-V65 modals||21||19||23||21||13||10||13||10||10||11||13|
This shows that also the Cruciani data is dominated by E-V13. We can use the same modal of sub-clade modals method for the E-M35 Phylogeny Project database which however shows that the Cruciani team seem to have selected markers which show differences between E-M78 clades. For example the most obvious differences between E-M78 overall and E-V13, using the FT DNA 67 marker set, appear to be on DYS413 (22-23 instead of 23-24) and YCAII (19-22 instead of 19-21).