Whole Y-chromosome sequences reveal an extremely recent origin of the most common North African paternal lineage E-M183 (M81)

• Published in: Scientific reports Vol. 7; no. 1; pp. 15941 - 11
• Main Authors: Solé-Morata, Neus, García-Fernández, Carla, Urasin, Vadim, Bekada, Asmahan, Fadhlaoui-Zid, Karima, Zalloua, Pierre, Comas, David, Calafell, Francesc
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 21.11.2017; Nature Publishing Group
• Subjects: 45; 45/23; 45/29; 45/77; 631/181/2474; 631/208/457; Chromosomes; Cromosoma Y; Deoxyribonucleic acid; DNA; Genètica de poblacions humanes; Haplotypes; Heterozygosity; Humanities and Social Sciences; multidisciplinary; Population structure; Science; Science (multidisciplinary); Short tandem repeats; Single-nucleotide polymorphism; Y chromosomes; Àfrica del Nord; North Africa
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/s41598-017-16271-y

E-M183 (E-M81) is the most frequent paternal lineage in North Africa and thus it must be considered to explore past historical and demographical processes. Here, by using whole Y chromosome sequences from 32 North African individuals, we have identified five new branches within E-M183. The validation of these variants in more than 200 North African samples, from which we also have information of 13 Y-STRs, has revealed a strong resemblance among E-M183 Y-STR haplotypes that pointed to a rapid expansion of this haplogroup. Moreover, for the first time, by using both SNP and STR data, we have provided updated estimates of the times-to-the-most-recent-common-ancestor (TMRCA) for E-M183, which evidenced an extremely recent origin of this haplogroup (2,000–3,000 ya). Our results also showed a lack of population structure within the E-M183 branch, which could be explained by the recent and rapid expansion of this haplogroup. In spite of a reduction in STR heterozygosity towards the West, which would point to an origin in the Near East, ancient DNA evidence together with our TMRCA estimates point to a local origin of E-M183 in NW Africa.