Origins
E-M78, like its parent clade E-V68, is thought to have an African origin. 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 the region of Egypt and Libya.[5]
Prior to Cruciani et al. (2007), Semino et al. (2004) had proposed a place of origin for E-M78 further south in East Africa. This was because of the high frequency and diversity of E-M78 lineages in the region of Ethiopia. However, Cruciani et al. (2007) were able to study more data, and concluded that the E-M78 lineages in the Horn of Africa were dominated by relatively recent branches (see E-V32 below). They concluded that the region of Egypt 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".
Cruciani et al. (2007) also note this as evidence for "a corridor for bidirectional migrations" between Northeast Africa (Egypt and Libya in their data) on the one hand and East Africa on the other. Because Cruciani et al. (2007) also proposed that E-M35, the parent clade of E-M78, originated in East Africa during the Palaeolithic and subsequently spread to the region of Egypt. E-M78 in East Africa, is therefore the result of a back migration. The authors believe there were "at least 2 episodes between 23.9–17.3 ky and 18.0–5.9 ky ago".
Another probable migration to the south from Egypt was noted by Hassan et al. (2008) based upon their survey of Sudan. 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".
Northwards from Egypt and Libya, E-M78 migrated into the Middle East, but additionally Trombetta et al. (2011) proposed that the earlier E-V68 carrying population may have migrated by sea directly from Africa to southwestern Europe, because they observed cases of E-V68* (without the M78 mutation) only in Sardinia, and not in the Middle Eastern samples. Concerning E-M78, like other forms of E-V68 there is evidence of multiple routes of expansion out of an African homeland.
On the other hand, while there were apparently direct migrations from North Africa to Iberia and Southern Italy (of people carrying E-V68*, E-V12, E-V22, and E-V65), the majority of E-M78 lineages found in Europe belong to the E-V13 subclade which appears to have entered Europe at some time undetermined from the Near East, where it apparently originated, via the Balkans.
Coming to similar conclusions as the Cruciani and Trombetta team, Battaglia et al. (2008), writing prior to the discovery of E-V68, 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".
The division of E-V68 into sub-clades such as E-V12, E-V13, etc. has largely been the work of an Italian team including Fulvio Cruciani, Beniamino Trombetta, Rosario Scozzari and others. They started on the basis of STR studies in 2004, and then in 2006 they announced the discoveries of single nucleotide polymorphism (SNP) mutations which could define most of the main branches with better clarity, which was then discussed further in 2007.[2][6][7] These articles were 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.
Keita (2008) examined a published Y-chromosome dataset on Afro-Asiatic populations and found that a key lineage E-M35/E-M78, sub-clade mutation of haplogroup E, was shared between the populations in the locale of original Egyptian speakers and modern Cushitic speakers from the Horn. These lineages are present in Egyptians, Berbers, Cushitic speakers from the Horn of Africa, and Semitic speakers in the Near-East. He noted that variants are also found in the Aegean and Balkans, but the origin of the M35 subclade was in East Africa, and its clades were dominant in a core portion of Afro-Asiatic speaking populations which included Cushitic, Egyptian and Berber groups, in contrast Semitic speakers showed a decline in frequency going west to east in the Levantine-Syria region. Keita identified high frequencies of M35 (>50%) among Omotic populations, but stated that this derived from a small, published sample of 12. Keita also wrote that the PN2 mutation was shared by M35 and M2 lineages and this defined clade originated from East Africa. He concluded that "the genetic data give population profiles that clearly indicate males of African origin, as opposed to being of Asian or European descent" but acknowledged that the biodiversity does not indicate any specific set of skin colors or facial features as populations were subject to microevolutionary pressures.[8][9]
Loosdrecht et al. (2018) analysed genome-wide data from seven ancient Iberomaurusian individuals from the Grotte des Pigeons near Taforalt in eastern Morocco. The fossils were directly dated to between 15,100 and 13,900 calibrated years before present. The scientists found that all the male specimens with sufficient nuclear DNA preservation belonged to the E1b1b1a1 (M78) subclade, with one skeleton bearing the E1b1b1a1b1 parent lineage to E-V13.[10] Martiniano et al. (2022) later reassigned all the Taforalt samples to haplogroup E-M78 and none to E-L618, the predecessor to EV13.[11]
Age
Battaglia et al. (2008) estimated that E-M78 (called E1b1b1a1 in that paper) has been in Europe longer than 10,000 years. And more recently, Lacan et al. (2011) found that human remains excavated in a Spanish funeral cave dated to approximately 7000 years ago were in the E-V13 branch of E-M78.
In June 2015, the M78 mutation and the consequent beginning of the E-M78 and E-V68 family trees was dated by Trombetta et al. to approximately 20,300-14,800 years ago
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)
According to some authors E-V13 appears to have originated in Greece or the southern Balkans and its presence in the rest of the Mediterranean is likely a consequence of Greek colonization.[25][26][27] 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 Kosovo Albanians (45.6%),[28] Macedonian Albanians (34.4%),[17] Albanians (32.29%),[29] and in some parts of Greece (ca. 35%).[30][31] More generally, high frequencies have also been found in other areas of Greece, and amongst Bulgarians, Romanians, Macedonians and Serbs.[6][16][32][33]
Within Italy, frequencies tend to be higher in Southern Italy,[2] with particularly high results sometimes seen in particular areas; for example, in Santa Ninfa and Piazza Armerina in Sicily.[34] High frequencies appear to exist also in some northern areas[Note 3] for example around Venice,[Note 4] Genoa[35] and Rimini,[36] as well as on the island of Corsica[37] and the region of Provence in south France,[27] and is also found in scattered and small amounts in Libyan Jews and Egypt, but this is most likely a result of migration from Europe or the Near East.[2]
https://en.wikipedia.org/wiki/Haplogroup_E-V68
