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Valentine Ponomarev
Valentine Ponomarev

Ev13 Haplogroup Origin


Haplogroup E-V68, also known as E1b1b1a, is a major human Y-chromosome DNA haplogroup found in North Africa, the Horn of Africa, Western Asia and Europe. It is a subclade of the larger and older haplogroup, known as E1b1b or E-M215 (also roughly equivalent to E-M35). The E1b1b1a lineage is identified by the presence of a single nucleotide polymorphism (SNP) mutation on the Y chromosome, which is known as V68. It is a subject of discussion and study in genetics as well as genetic genealogy, archaeology, and historical linguistics.




ev13 haplogroup origin


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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".


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".


Keita (2008) examined a published Y-chromosome dataset on Afro-Asiatic populations and found that a key lineage E-M35/E-M78, sub-clade 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]


The highest frequencies of all the defined E-M78 sub-clades is primarily found amongst Afroasiatic-speaking populations in the large area stretching from the haplogroup's putative place of origin in Upper Egypt to the Sudan and the Horn of Africa.[6]


Listed here are the main subclades of M78 as of June 2015. Within the E-M78 subclade, Trombetta et al. 2015 allocated most of the former E-M78* chromosomes to three new distinct branches: E-V1083*, E-V1477 and E-V259. The first is a paragroup sister to clades E-V22 and E-V13. The mutation V1477 defines a new basal branch observed only in one northern African sample. Finally, a sister clade of E-V12, defined by V264, includes E-V65 and a new central African lineage defined by V259.[12] The rare M78 subhaplogroup E1b1b1a1-PF2186 has been found at highest frequencies among the Toubou population inhabiting Chad (21%).[20]


This subclade of E-M78 is the one which appears to have split from the others first (it arose c. 13.7-15.2 kya[21]). According to Cruciani et al. (2007), the E-V12 sublineage likely originated in North Africa.


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%).


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]


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.[2] The Druze are considered a genetically isolated community, and are therefore of particular interest.[39] The STR DNA signature of some of the E-V13 men amongst them was actually originally classified in the delta cluster in Cruciani et al. (2004) harvcoltxt error: no target: CITEREFCruciani_et_al.2004 (help). 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 distribution and diversity of V13 are often thought to represent the introduction of early farming technologies, during the Neolithic expansion, into Europe by way of the Balkans.[15] The haplogroup J2b (J-M12) has also frequently been discussed in connection with V13, as a haplogroup with a seemingly very similar distribution and pre-history.[3][6][15] (There is no consensus regarding the circumstances or timing of its evolution.)


The last two seem within the timespan possible for V13 given its STR age of arise putatively in the Middle East. In favor of the agricultural connection, human remains excavated in a Spanish funeral cave dating from approximately 7000 years ago were shown to be in this haplogroup.[40]


E-V13 is in any case often described in population genetics as one of the components of the European genetic composition which shows a relatively recent link of populations from the Middle East, entering Europe and presumably associated with bringing new technologies.[41][42][43] As such, it is also sometimes remarked that it is a relatively recent genetic movement out of Africa into Eurasia, and has been described as "a signal for a separate late-Pleistocene migration from Africa to Europe over the Sinai ... which is not manifested in mtDNA haplogroup distributions".[44]


After its initial entry in Europe, there was then a dispersal from the Balkans into the rest of Europe. Also for this movement, a wide range of possibilities exists. Battaglia et al. (2008) suggest that the E-V13 subclade 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. The above-mentioned find of archaic E-V13 in Spain supports this suggestion.


In contrast, Cruciani et al. (2007) suggest that the movement out of the Balkans may have been more recent than 5300 years ago. The authors suggest that for the most part, modern E-V13 descends from a population which remained in the Balkans until the Balkan Bronze Age. They consider that "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) harvcoltxt error: no target: CITEREFPeričic_et_al.2005 (help) propose the Vardar-Morava-Danube rivers as a possible route of Neolithic dispersal into central Europe. Bird (2007) proposes a still more recent dispersal out of the Balkans, around the time of the Roman empire. 041b061a72


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