North African populations carry the signature of admixture with Neandertals

• Published in: PloS one Vol. 7; no. 10; p. e47765
• Main Authors: Sánchez-Quinto, Federico, Botigué, Laura R, Civit, Sergi, Arenas, Conxita, Avila-Arcos, María C, Bustamante, Carlos D, Comas, David, Lalueza-Fox, Carles
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 17.10.2012; Public Library of Science (PLoS)
• Subjects: ADN; Africa South of the Sahara; Africa, North; Africa, Northern; Analysis; Animals; Asia; Biology; DNA; Europe; Evolutionary paleobiology; Gene Pool; Genealogy and Heraldry; Genetic aspects; Genetics; Genetics, Population; Genomes; Genomics; Home de Neandertal; Hominids; Homo neanderthalensis; Human populations; Humans; Natural history; Neanderthals; Neanderthals - genetics; Neolithic; North Africans; Paleobiologia; Paleobiologia evolutiva; Paleobiology; Population; Population genetics; Population studies; Populations; Principal Component Analysis; Single-nucleotide polymorphism; Stone Age; Àfrica del Nord; Africa, Northern; Africa South of the Sahara; Asia; Europe; Denmark; North Africa
• 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.