Mitochondrial DNA haplogroup H structure in North Africa

Abstract

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.

Using mitochondrial DNA to test the hypothesis of a European post-glacial human recolonization from the Franco-Cantabrian refuge

“…On the basis of their high frequency for the North-African Y-chromosome E-M81 haplogroup and a relative abundance of other Y-chromosome and mtDNA haplogroups, of typical northern European ascription, dual gene-flow influences were assumed to affect this isolate (Maca-Meyer et al, 2003). In this study, again, the high frequency of H4 and the absence of H3 resembles the haplogroup H profile found for Moroccan Berbers (Ennafaa et al, 2009). On the other hand, the high frequency of H1a may be better explained by northcentral European influence (Loogvali et al, 2004).…”

“…To confirm this HVS-based haplogroup classification, all individuals assigned to a specific haplogroup were additionally tested by restriction analysis of the diagnostic coding-region mutations (Supplementary Table S1), proposed to unambiguously classify sequences into haplogroups (Richards et al, 2000). In addition, 236 individuals belonging to the H haplogroup were further assorted into 1 of 19 different H subgroups (Supplementary Table S2), using diagnostic restriction fragment length polymorphisms (Ennafaa et al, 2009). We compiled 5436 sequences from the literature for total haplogroup statistical analysis (Supplementary Table S3), 1369 for H subgroup general comparisons (Supplementary Table S4), 1628 for the specific subgroups H1 and H3 analysis (Supplementary Table S5) and 724, 408, 189, 292 and 134, belonging to haplogroups K, T2b, W, V and HV0, respectively, for diversity analysis (Supplementary Tables S6 and S7).…”

Linking the sub-Saharan and West Eurasian gene pools: maternal and paternal heritage of the Tuareg nomads from the African Sahel

“…A major proportion (94%) could be allocated to haplogroups H1, H3 and V, West Eurasian lineages of Iberian origin that spread to Europe 7,10,17,26,29,36 and most probably North Africa 30,31 with the improvement of the climatic conditions after the retreat of the ice sheets 15 000-13 000 years ago. Both H1 and H3 commonly display rather low diversity in the D-loop region, but the Tuareg haplotypes belonging to haplogroup V have a specific diagnostic mutation -the transition at position 16 234.…”

“…However, according to historical reports, the origin of the Beja is more likely to be traceable to the Arabian Peninsula 52 and the West Eurasian mtDNA lineages seen in the Tuareg have a rather Iberian affiliation in the post-LGM, and probably expanded to North Africa first. 30,31 The weak Eastern African influence in Tuareg is further supported by the M1 haplotypes belonging to the lineages characteristic of the later Mediterranean expansion (M1b and M1a2a) and the presence of very few matches for sub-Saharan L haplotypes with East Africa. The main post-LGM Eurasian and M1a2a lineages found in the Tuareg favour North African origin with migration to its southern location in the Sahel between B9000 and B3000 years ago.…”

“…The geographic location used is the centre of the distribution area, from where the individual samples of each population were collected. Comparative data for H1 and H3 were taken from Finnila et al, 27 Herrnstadt et al, 28 Pereira et al, 29 Cherni et al 30 and Ennafaa et al; 31 and those for haplogroup V from Torroni et al, 10 Pereira et al, 32 Behar et al 33 and Cherni et al 30 …”