Y chromosome and MT-COX2 variation in some Afro-Asiatic and Nilo-Saharan language families groups in Ethiopia

Abstract The patterns of Y chromosome and MT-COX2 Variations were studied in five ethnic groups from Afro-Asiatic and Nilo-Saharan language families of Ethiopia. The Y chromosome macro-haplogroups (A, B, E and F) were genotyped in 120 unrelated adult males. The result shows haplogroup A-M13, B-M60, E-M78 and F-M89 were present with percentages of 44.04, 39.28, 86.11 and 21.42% respectively, showing higher Y chromosome diversity than elsewhere in Africa. The ancient haplogroups A-M13 and B-M60 and the most widespread haplogroup E-M78 was present at high frequencies in Nilo-Saharan than Afro-Asiatic speaking groups. Intersetingly, haplogroup E-M78 subclade E1b1b1a1 was remarkably high. Based on MT-COX2 sequence ( Genbank acc. no. MK955250-MK955274 ), 15 substitutions (SNPs) were observed, of which the majority (80%) were Transitions. Haplotype variations analysis revealed a total of 13 haplotypes with 138 polymorphic sites. Evidence for the sign of past demographic expansion and high genetic diversity was noted. Phylogenetic analyses indicated that East Africans in general and Western Ethiopia in particular are at the root of the human evolutionary tree as a more ancestral lineages and the most probable location from which dissemination of human out of Africa has taken place, and suggest for further detailed studies on Ethiopian and African populations to contribute in filling the existing gaps in the MT-COX2 database.