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

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


Erwan Pennarun, Toomas Kivisild, Ene Metspalu, Mait Metspalu, Tuuli Reisberg, Doron M Behar, Sacha C Jones and Richard Villems


BMC Evolutionary Biology 2012, 12:234


Abstract (provisional)



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.



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.



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.

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