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

¹Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria

²Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria

³Research Center for Agriculture and Forestry Laimburg, Auer, Italy

⁴Institute of Legal Medicine, University of Cologne, Cologne, Germany

⁵Institute of Mathematics, University of Innsbruck, Innsbruck, Austria

⁶Institute of Legal Medicine, Genomic Medicine Group, CIBERER, University of Santiago de Compostela, Spain

author email corresponding author email

BMC Evolutionary Biology 2008, 8:191doi:10.1186/1471-2148-8-191


Published:	4 July 2008

Abstract

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.