The genetic landscape of Mediterranean North African populations through complete mtDNA sequences

Abstract

Background: The genetic composition of human North African populations is an amalgam of different ancestral components coming from the Middle East, Europe, south-Saharan Africa and autochthonous to North Africa. This complex genetic pattern is the result of migrations and admixtures in the region since Palaeolithic times.

Aims: The objective of the present study is to refine knowledge of the population history of North African populations through the analysis of complete mitochondrial sequences.

Subjects and methods: This study has sequenced complete mitochondrial DNAs (mtDNAs) in several North African and neighbouring individuals.

Results: The mtDNA haplogroup classification and phylogeny shows a high genetic diversity in the region as a result of continuous admixture. The phylogenetic analysis allowed us to identify a new haplogroup characterised by positions 10 101 C and 146 C (H1v2), a sub-branch of H1v, which is restricted to North Africa and whose origins are estimated as ∼4000 years ago.

Conclusions: The analysis of the complete mtDNA genome has allowed for the identification of a North African sub-lineage that might be ignored by the analysis of partial mtDNA control region sequences, highlighting the phylogeographic relevance of mtDNA complete sequence analysis.

Keywords:

• Population genetics
• North Africa
• mitochondrial DNA
• haplogroups

Acknowledgements

We want to thank the thousands of volunteers who made this work possible.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

Additional information

Funding

Funding was provided by the Agencia Estatal de Investigación and Fondo Europeo de Desarollo Regional (FEDER) (grants CGL2013–44351-P, CGL2016–75389-P) and by Agència de Gestió d’Ajuts Universitaris i de la Recerca (Generalitat de Catalunya) grant 2014 SGR 86.