Abstract
BackgroundNearly half of the West Eurasian assemblage of human mitochondrial DNA (mtDNA) is fractioned into numerous sub-lineages of the predominant haplogroup (hg) R0. Several hypotheses have been proposed on the origin and the expansion times of some R0 sub-lineages, which were partially inconsistent with each other. Here we describe the phylogenetic structure and genetic variety of hg R0 in five European populations and one population from the Middle East.ResultsOur analysis of 1,350 mtDNA haplotypes belonging to R0, including entire control region sequences and 45 single nucleotide polymorphisms from the coding region, revealed significant differences in the distribution of different sub-hgs even between geographically closely located regions. Estimates of coalescence times that were derived using diverse algorithmic approaches consistently affirmed that the major expansions of the different R0 hgs occurred in the terminal Pleistocene and early Holocene.ConclusionGiven an estimated coalescence time of the distinct lineages of 10 – 18 kya, the differences in the distributions could hint to either limited maternal gene flow after the Last Glacial Maximum due to the alpine nature of the regions involved or to a stochastic loss of diversity due to environmental events and/or disease episodes occurred at different times and in distinctive regions. Our comparison of two different ways of obtaining the timing of the most recent common ancestor confirms that the time of a sudden expansion can be adequately recovered from control region data with valid confidence intervals. For reliable estimates, both procedures should be applied in order to cross-check the results for validity and soundness.
Highlights
Half of the West Eurasian assemblage of human mitochondrial DNA is fractioned into numerous sub-lineages of the predominant haplogroup R0
In a total of 3,569 samples from five European populations residing in Central and South-East Europe (Austria, Germany, Hungary, Macedonia and Romania) and one Phylogenetic topology of haplogroup R0 R0 delineates from R* by the absence of nucleotide substitutions relative to the rCRS at positions 73 and 11719 and it can further be divided into two major clades: HV* is defined by the absence of transition C14766T, while R0a is defined by a set of variants at positions 64, 2442, 3847, 13188, 16166, and 16362 [20]
Our analysis of 1,350 mitochondrial DNA (mtDNA) haplotypes belonging to R0, the most common hg-cluster in West Eurasia, revealed significant differences in the distribution of different subhgs even between geographically closely located regions
Summary
Half of the West Eurasian assemblage of human mitochondrial DNA (mtDNA) is fractioned into numerous sub-lineages of the predominant haplogroup (hg) R0. In Europe, with the exception of U5 and V, which most likely arose in situ, all mtDNA hgs (H, I, J, K, T, U2e, U3, U4, X, and W) are most likely of Middle Eastern origin and were introduced by either the protocolonization 41–46 kya, by later arrivals in the late Paleolithic or more recent contacts [2,9,10]. More than 20 sub-lineages of hg H, the predominant subclade of R0, which accounts for roughly 40% of West Eurasian mtDNAs, have been described [6,12,13,17] and the variance of their regional distributions has been discussed [4,6,13,17,18]
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