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Open Access Highly Accessed Research article

Divorcing the Late Upper Palaeolithic demographic histories of mtDNA haplogroups M1 and U6 in Africa

Erwan Pennarun1*, Toomas Kivisild12, Ene Metspalu1, Mait Metspalu1, Tuuli Reisberg1, Jean-Paul Moisan3, Doron M Behar13, Sacha C Jones4 and Richard Villems15

Author Affiliations

1 Estonian Biocentre and Department of Evolutionary Biology, University of Tartu, Tartu, Estonia

2 Division of Biological Anthropology, University of Cambridge, Cambridge, United Kingdom

3 Molecular Medicine Laboratory, Rambam Health Care Campus, Haifa, Israel

4 McDonald Institute for Archaeological Research, University of Cambridge, Cambridge, United Kingdom

5 Estonian Academy of Sciences, Tallinn, Estonia

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BMC Evolutionary Biology 2012, 12:234  doi:10.1186/1471-2148-12-234

Published: 3 December 2012

Abstract

Background

A Southwest Asian origin and dispersal to North Africa in the Early Upper Palaeolithic era has been inferred in previous studies for mtDNA haplogroups M1 and U6. Both haplogroups have been proposed to show similar geographic patterns and shared demographic histories.

Results

We report here 24 M1 and 33 U6 new complete mtDNA sequences that allow us to refine the existing phylogeny of these haplogroups. The resulting phylogenetic information was used to genotype a further 131 M1 and 91 U6 samples to determine the geographic spread of their sub-clades. No southwest Asian specific clades for M1 or U6 were discovered. U6 and M1 frequencies in North Africa, the Middle East and Europe do not follow similar patterns, and their sub-clade divisions do not appear to be compatible with their shared history reaching back to the Early Upper Palaeolithic. The Bayesian Skyline Plots testify to non-overlapping phases of expansion, and the haplogroups’ phylogenies suggest that there are U6 sub-clades that expanded earlier than those in M1. Some M1 and U6 sub-clades could be linked with certain events. For example, U6a1 and M1b, with their coalescent ages of ~20,000–22,000 years ago and earliest inferred expansion in northwest Africa, could coincide with the flourishing of the Iberomaurusian industry, whilst U6b and M1b1 appeared at the time of the Capsian culture.

Conclusions

Our high-resolution phylogenetic dissection of both haplogroups and coalescent time assessments suggest that the extant main branching pattern of both haplogroups arose and diversified in the mid-later Upper Palaeolithic, with some sub-clades concomitantly with the expansion of the Iberomaurusian industry. Carriers of these maternal lineages have been later absorbed into and diversified further during the spread of Afro-Asiatic languages in North and East Africa.

Keywords:
mtDNA haplogroups M1 and U6; Afro-Asiatic languages; North Africa