North African populations carry the signature of admixture with neandertals

• Published in: PloS one
• Main Authors: Sánchez Quinto, Federico A, 1985, Botigué, Laura R, Civit, Sergi, Arenas, Conxita, Ávila Arcos, María C, Bustamante, Carlos D, Comas, David, 1969, Lalueza Fox, Carles, 1965
• Format: Journal Article
• Language: English
• Published: Public Library of Science (PLoS) 2012
• Subjects: Aspectes genètics; Demografia; Genètica de poblacions humanes; Àfrica del Nord
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0047765

One of the main findings derived from the analysis of the Neandertal genome was the evidence for admixture between Neandertals and non-African modern humans. An alternative scenario is that the ancestral population of non-Africans was closer to Neandertals than to Africans because of ancient population substructure. Thus, the study of North African populations is crucial for testing both hypotheses. We analyzed a total of 780,000 SNPs in 125 individuals representing seven different North African locations and searched for their ancestral/derived state in comparison to different human populations and Neandertals. We found that North African populations have a significant excess of derived alleles shared with Neandertals, when compared to sub-Saharan Africans. This excess is similar to that found in non-African humans, a fact that can be interpreted as a sign of Neandertal admixture. Furthermore, the Neandertal's genetic signal is higher in populations with a local, pre-Neolithic North African ancestry. Therefore, the detected ancient admixture is not due to recent Near Eastern or European migrations. Sub-Saharan populations are the only ones not affected by the admixture event with Neandertals. FS-Q, SC, CA and CL-F are supported by a grant from the Ministerio de Ciencia e Innovación of Spain (BFU2009-06974) and CGL2010-14944/BOS.