Timing and deciphering mitochondrial DNA macro-haplogroup R0 variability in Central Europe and Middle East

Timing and deciphering mitochondrial DNA macro-haplogroup R0 variability in Central Europe and Middle East

Anita Brandstätter1,2 , Bettina Zimmermann1 , Janine Wagner1,3 , Tanja Göbel1,4 , Alexander W Röck5 , Antonio Salas6 , Angel Carracedo6  and Walther Parson1

BMC Evolutionary Biology 2008, Published: 4 July 2008

Background
Nearly 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.

Results
Our 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.

Conclusion
Given 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.

Just one for the records.

One response to “Timing and deciphering mitochondrial DNA macro-haplogroup R0 variability in Central Europe and Middle East

  1. After some headaches, I think that I finally understood why the apparent contradiction between the age estimate for H of some 18,000 y.o. and that of the subclade H15 of some 20-25,000 years). When they say “H” they must mean the para-haplogroup H*, not H as such. It’s the only thing that makes some sense.

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