Haplogroup E-V12

The human Y-chromosome haplogroup E-V12 is a subclade of E-M78, which in turn is part of the larger haplogroup E1b1b1.[3] According to Cruciani et al. (2007), the E-V12 sublineage likely originated in Northern Africa. It has two main branches: E-V32 which is most common in the Horn of Africa, and E-CTS693 (previously known as E-V12*) which is most common in Upper Egypt and to a lesser extent in Sudan. E-CTS693 is also scattered in low frequencies across the Levant, Anatolia, the Central Sahel, the African Great Lakes region, and Europe.[6][3]

Haplogroup E-V12
Interpolated frequency distribution.[1]
Possible time of originc. 12,300 years BP[2]
Coalescence agec. 10,500 years BP[2]
Possible place of originLower Egypt/Libya[3] or Upper Egypt/Northern Sudan[4]
AncestorE-V68/M78[5]
Defining mutationsV12, Z1216[5]

Ancient DNA

Undifferentiated E-V12* lineages

Undifferentiated E-V12* lineages (not E-V32 or E-M224, so therefore named "E-V12*") peak in frequency among Southern Egyptians (up to 74.5%).[9] The subclades are also scattered widely in small amounts in both Northern Africa and Europe, but with very little sign in Western Asia, apart from Turkey.[3] These E-V12* lineages were formerly included (along with many E-V22* lineages[Note 1]) in Cruciani et al.'s original (2004) "delta cluster", which he had defined using Y-STR profiles. With the discovery of the defining SNP, Cruciani et al. (2007) reported that V12* was found in its highest concentrations in Egypt, especially Southern Egypt.

Hassan et al. (2008) report a significant presence of E-V12* in neighboring Sudan, including 5/33 Copts and 5/39 Nubians. E-V12* made up approximately 20% of the Sudanese E-M78. They propose that the E-V12 and E-V22 sub-clades of E-M78 might have been brought to Sudan from their place of origin in North Africa after the progressive desertification of the Sahara around 6,000–8,000 years ago. Sudden climate change might have forced several Neolithic cultures/people to migrate northward to the Mediterranean and southward to the Sahel and the Nile Valley.[10] The E-V12* paragroup is also observed in Europe (e.g. amongst French Basques) and Eastern Anatolia (e.g. Erzurum Turks).[3]

The non-basal subhaplogroup E1b1b-V12/E3b1a1 has been found at highest frequencies among various Afroasiatic-speaking populations in eastern Africa, including Garreh (74.1%), Gabra (58.6%), Wata (55.6%), Borana (50.0%), Sanye (41.7%), Beja (33.3%) and Rendille (29.0%).[11]

E-V32

Cruciani et al. (2007) suggest that this sub-clade of E-V12, which originated in North Africa, and then subsequently expanded further south into the Horn of Africa, where it is now prevalent,[Note 2] with speakers of Cushitic. Before the discovery of V32, Cruciani et al. (2004) referred to the same lineages as the "gamma cluster", which was estimated to have arisen about 8,500 years ago. They stated that "the highest frequencies in the three Cushitic-speaking groups: the Borana from Kenya (71.4%), the Oromo from Ethiopia (32.0%), and the Somali (80%). Outside of eastern Africa, it was found only in two subjects from Egypt (3.6%) and in one Arab from Morocco". Sanchez et al. (2005) found it extremely prominent in Somali men and stated that "the male Somali population is a branch of the Horn African population – closely related to the Oromos in Ethiopia and North Kenya (Boranas)" and that their gamma cluster lineages "probably were introduced into the Somali population 4000–5000 years ago". More recently, Tillmar et al. (2009) typed 147 males from Somalia for 12 Y-STR loci, and observed that 77% (113/147) had typical E-V32 haplotypes. This is currently the highest frequency of E-V32 found in any single sample population. Similarly, Hassan et al. (2008) in their study observed this to be the most common of the sub-clades of E-M78 found in Sudan, especially among the Beja, Masalit and Fur. The Beja, like Somalis and Oromos, speak an Afro-Asiatic language and live along the "corridor" from the Horn of Africa to Egypt. Hassan et al. (2008) interpret this as reinforcing the "strong correlation between linguistic and genetic diversity" and signs of relatedness between the Beja and the peoples of the Horn of Africa such as the Amhara, Oromo, and Somalis. On the other hand, the Masalit and Fur live in Darfur and speak a Nilo-Saharan language. The authors observed in their study that "the Masalit possesses by far the highest frequency of the E-M78 and of the E-V32 haplogroup", which they believe suggests "either a recent bottleneck in the population or a proximity to the origin of the haplogroup." However, More recently, Tillmar et al. (2009) typed 147 males from Somalia for 12 Y-STR loci, and observed that 77% (113/147) had typical E-V32 haplotypes. This is the highest frequency of E-V32 found in any single sample population.

The STR data from Cruciani et al. (2007) concerning E-V12 can be summarized as follows.

Haplotype description YCAIIa YCAIIb DYS413a DYS413b DYS19 DYS391 DYS393 DYS439 DYS460 DYS461 A10
E-V12*modal192222221310131111913
min18212021111012118811
max1922222315121413121014
number4040404040404040404040
E-V32modal1921222311101312101013
min19192021119121191011
max2022222411111313121114
number3535353535353535353535
All E-V12modal1922222311101311111013
min1819202111912118811
max2022222415121413121114
number7575757575757575757575

Sub-clades

Notes
  1. Cruciani et al. (2004): "E-V22 and E-V12* chromosomes are intermingled and not clearly differentiated by their microsatellite haplotypes". In Cruciani et al. (2007) the same authors show that a branch of E-V13 found amongst the Druze Arabs is also in the delta cluster. (Contrast the data tables of Cruciani et al. (2007) and Cruciani et al. (2004).)
  2. Cruciani et al. (2007): Fig. 2/C

References
  1. D'Atanasio E; Trombetta B; Bonito M; Finocchio A; Di Vito G; Seghizzi M; et al. (2018). "The peopling of the last Green Sahara revealed by high-coverage resequencing of trans-Saharan patrilineages". Genome Biol. 19 (1): 20. doi:10.1186/s13059-018-1393-5. PMC 5809971. PMID 29433568.
  2. "E-V12 YTree".
  3. Cruciani et al. (2007)
  4. Battaglia et al. (2008)
  5. ISOGG, Copyright 2016 by. "ISOGG 2017 Y-DNA Haplogroup E". isogg.org. Retrieved 2019-01-07.
  6. E-CTS693
  7. Ingman, Tara; Eisenmann, Stefanie; Skourtanioti, Eirini; Akar, Murat; Ilgner, Jana; Gnecchi Ruscone, Guido Alberto; le Roux, Petrus; Shafiq, Rula; Neumann, Gunnar U.; Keller, Marcel; Freund, Cäcilia; Marzo, Sara; Lucas, Mary; Krause, Johannes; Roberts, Patrick; Yener, K. Aslıhan; Stockhammer, Philipp W. (2021). "Human mobility at Tell Atchana (Alalakh), Hatay, Turkey during the 2nd millennium BC: Integration of isotopic and genomic evidence". PLoS One. 16 (6). doi:10.1371/journal.pone.0241883. PMID 34191795.
  8. Antonio, Margaret L.; et al. (8 November 2019). "Ancient Rome: A genetic crossroads of Europe and the Mediterranean". Science. American Association for the Advancement of Science. 366 (6466): 708–714. Bibcode:2019Sci...366..708A. doi:10.1126/science.aay6826. PMC 7093155. PMID 31699931.
  9. Beniamino Trombetta (2015). "Phylogeographic refinement and large scale genotyping of human Y chromosome haplogroup E provide new insights into the dispersal of early pastoralists in the African continent". Genome Biology and Evolution. 7 (7): 1940–1950. doi:10.1093/gbe/evv118. PMC 4524485. PMID 26108492.
  10. Hassan et al. (2008)
  11. Hirbo, Jibril Boru. "Complex Genetic History of East African Human Populations" (PDF). University of Maryland, College Park. Retrieved 13 July 2017.

Sources
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