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

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.