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

Neus Font-Porterias, Neus Solé-Morata, Gerard Serra-Vidal, Asmahan Bekada, Karima Fadhlaoui-Zid, Pierre Zalloua, Francesc Calafell, David Comas

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


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.

Original languageBritish English
Pages (from-to)98-104
Number of pages7
JournalAnnals of Human Biology
Issue number1
StatePublished - 2 Jan 2018


  • haplogroups
  • mitochondrial DNA
  • North Africa
  • Population genetics


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