Open Access Highly Accessed Research article

Mitochondrial DNA haplogroup H structure in North Africa

Hajer Ennafaa1, Vicente M Cabrera2, Khaled K Abu-Amero3, Ana M González2, Mohamed B Amor1, Rym Bouhaha1, Nduna Dzimiri4, Amel B Elgaaïed1 and José M Larruga2*

  • * Corresponding author: José M Larruga

  • † Equal contributors

Author Affiliations

1 Laboratory of Genetics, Immunology and Human Pathology at the Faculty of Sciences of Tunis, Faculty of Sciences of Tunis, University El Manar I, 1060 Tunis, Tunisia

2 Department of Genetics, Faculty of Biology, University of La Laguna, Tenerife 38271, Spain

3 Molecular Genetics Laboratory, College of Medicine, King Saud University, Riyadh, Saudi Arabia

4 Department of Genetics, King Faisal Specialist Hospital, Riyadh, Saudi Arabia

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BMC Genetics 2009, 10:8  doi:10.1186/1471-2156-10-8

Published: 25 February 2009



The Strait of Gibraltar separating the Iberian Peninsula from North Africa is thought to be a stronger barrier to gene flow for male than for female lineages. However, the recent subdivision of the haplogroup H at mitochondrial DNA (mtDNA) level has revealed greater genetic differentiation among geographic regions than previously detected. The dissection of the mtDNA haplogroup H in North Africa, and its comparison with the Iberian Peninsula and Near-East profiles would help clarify the relative affinities among these regions.


Like the Iberian Peninsula, the dominant mtDNA haplogroup H subgroups in North Africa are H1 (42%) and H3 (13%). The similarity between these regions is stronger in the North-West edge affecting mainly Moroccan Arabs, West Saharans and Mauritanians, and decreases eastwards probably due to gene flow from Near East as attested for the higher frequencies of H4, H5, H7, H8 and H11 subgroups. Moroccan Berbers show stronger affinities with Tunisian and Tunisian Berbers than with Moroccan Arabs. Coalescence ages for H1 (11 ± 2 ky) and H3 (11 ± 4 ky) in North Africa point to the possibility of a late Palaeolithic settlement for these lineages similar to those found for other mtDNA haplogroups. Total and partial mtDNA genomic sequencing unveiled stronger mtDNA differentiation among regions than previously found using HVSI mtDNA based analysis.


The subdivision of the mtDNA haplogroup H in North Africa has confirmed that the genetic differentiation found among Western and Eastern populations is mainly due to geographical rather than cultural barriers. It also shows that the historical Arabian role on the region had more a cultural than a demic effect. Whole mtDNA sequencing of identical H haplotypes based on HVSI and RFLP information has unveiled additional mtDNA differences between North African and Iberian Peninsula lineages, pointing to an older mtDNA genetic flow between regions than previously thought. Based on this new information, it seems that the Strait of Gibraltar barrier affected both male and female gene flow in a similar fashion.