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Mitochondrial DNA Haplogroup H Structure in North Africa


Mitochondrial DNA Haplogroup H Structure in North Africa

Hajer Ennafaa et al. BMC Genet.


Background: 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.

Results: 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.

Conclusion: 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.


Figure 1
Figure 1
Graphical relationships among the studied populations. Codes are as in Table 1. MDS plots based on FST haplogroup (a) and haplotypic (b) frequency distances.
Figure 2
Figure 2
Phylogenetic tree of complete (continuous branches) or nearly complete (discontinuous branches) haplogroup H mtDNA sequences. Numbers along links refer to nucleotide transitions. "A" and "T" indicate transversions; "d" deletions and "i" insertions. Recurrent mutations are underlined. The empty box represents a node from which other (not shown) sequences branch. Sequence references are: CRS [64,65]; How 73H, How 78H and How51H [66]; Bra H5 [49]; Her 127 ([10], EF657262); Ach 28 and Ach 39 ([37], AY738967 and AY738978); Mis E6H [62], AY195757); MM H2 and MM H1 ([9], AF382002 and AF381993); Fra 27 and Fra 48 ([67], DQ523627 and GQ523648); Fin 413 ([36], AY339413); Jor 843, Mau 2027, Sah 7045, Sev 1179, Geo 2459, Mor 2047 (present study). Geographic origins are: How 73H, How 78H and How51H: Dutch, Jor 843: Jordan, Bra H5 and Her 127: Europeans, Ach 28 and Ach 39: Italians, Mis E6H: Israeli, Mau 2027 and MM H1: Mauritanians, MM H2 and Sev 1179: Spaniards, Sah 7045: West Saharan, Geo 2459: Georgian, Fra27 and Fra 48: Sardinians, Mor 2047: Moroccan, Fin 413: Finlander.

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