Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2013 Nov 27;8(11):e80293.
doi: 10.1371/journal.pone.0080293. eCollection 2013.

Genome-wide and Paternal Diversity Reveal a Recent Origin of Human Populations in North Africa

Free PMC article

Genome-wide and Paternal Diversity Reveal a Recent Origin of Human Populations in North Africa

Karima Fadhlaoui-Zid et al. PLoS One. .
Free PMC article


The geostrategic location of North Africa as a crossroad between three continents and as a stepping-stone outside Africa has evoked anthropological and genetic interest in this region. Numerous studies have described the genetic landscape of the human population in North Africa employing paternal, maternal, and biparental molecular markers. However, information from these markers which have different inheritance patterns has been mostly assessed independently, resulting in an incomplete description of the region. In this study, we analyze uniparental and genome-wide markers examining similarities or contrasts in the results and consequently provide a comprehensive description of the evolutionary history of North Africa populations. Our results show that both males and females in North Africa underwent a similar admixture history with slight differences in the proportions of admixture components. Consequently, genome-wide diversity show similar patterns with admixture tests suggesting North Africans are a mixture of ancestral populations related to current Africans and Eurasians with more affinity towards the out-of-Africa populations than to sub-Saharan Africans. We estimate from the paternal lineages that most North Africans emerged ∼15,000 years ago during the last glacial warming and that population splits started after the desiccation of the Sahara. Although most North Africans share a common admixture history, the Tunisian Berbers show long periods of genetic isolation and appear to have diverged from surrounding populations without subsequent mixture. On the other hand, continuous gene flow from the Middle East made Egyptians genetically closer to Eurasians than to other North Africans. We show that genetic diversity of today's North Africans mostly captures patterns from migrations post Last Glacial Maximum and therefore may be insufficient to inform on the initial population of the region during the Middle Paleolithic period.

Conflict of interest statement

Competing Interests: The authors have declare that no compiting interests exist.


Figure 1
Figure 1. Frequency of the major Y-chromosome haplogroups in North Africa and surrounding regions.
Intensity of the colors reflects the frequency of a haplogroup in the studied populations. A) Location of the analyzed populations. B–F) Frequency distribution of haplogroups E-M81, E-M78, E-M123, J-M267, and J-M172 respectively.
Figure 2
Figure 2. Y-chromosome population structure.
A) Principal component analysis of haplogroups frequencies. B) Multidimensional scaling plot based on RST distances between populations derived from Y-STR data.
Figure 3
Figure 3. BATWING population splitting tree.
Numbers on branches show partition posterior probability.
Figure 4
Figure 4. Genome-wide population structure.
A) Principal component analysis of ∼44,000 SNPs showing the top two components. B) Maximum likelihood tree showing populations relationships.

Similar articles

See all similar articles

Cited by 16 articles

See all "Cited by" articles


    1. Smith TM, Tafforeau P, Reid DJ, Grun R, Eggins S, et al. (2007) From the cover: earliest evidence of modern human life history in North African early Homo sapiens. Proc Natl Acad Sci USA 104: 6128–6133. - PMC - PubMed
    1. Barton RNE, Bouzouggar A, Collcutt SN, Schwenninger J-L, Clark-Balzan L (2009) OSL dating of the Aterian levels at Grotte de Dar es-Soltan I (Rabat, Morocco) and possible implications for the dispersal of modern Homo sapiens. Quaternary Sci Rev 28..
    1. Garcea EAA (2010) The spread of Aterian peoples in North Africa. In: GarceaEAA, editor. South-Eastern Mediterranean Peoples Between 130,000 and 10,000 years ago. Oxford: Oxbow Books.
    1. Debénath A (2000) Le peuplement préhistorique du Maroc: données récentes et problèmes. L'anthropologie 104: 131–145.
    1. Camps G (1974) Les civilisations préhistoriques de l'Afrique du Nord et du Sahara. Paris: Doin.

Publication types

Grant support

This study was supported in parts by Spanish Government MCINN grant CGL2010-14944/BOS and Programa de Cooperación Interuniversitaria e Investigación Científica, Spanish Ministry of Foreign Affairs and Cooperation grants A75180/06, A/8394/07, B/018514/08, A1/040218/11. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.