1Australian Centre for Ancient DNA, University of Adelaide, 2Institut fuer Anthropologie, Johannes-Gutenberg-Universitaet Mainz, 3State Museum for Prehistory Halle, State Office for Heritage Management and Archaeology Saxony-Anhalt, 4Department of Forensic Molecular Biology, University Medical Center Rotterdam, 5SA Pathology, SA Health, 6Pacific Biosciences, Pacific Biosciences, 7School of Biological Sciences, The University of Sydney, 8Institut Pasteur, Institut Pasteur, 9Rambam Medical Center, Rambam Medical Center, 10Archaeogenetics Research Group, University of Huddersfield, 11Institute of Dental Research, The University of Sydney, 12Centre for Geogenetics, Natural History Museum of Denmark, 13The Genographic Project, National Geographic Society
Friday 4:30-4:45, 200ABC
Haplogroup (hg) H dominates present-day Western European mitochondrial (mt) DNA variability (>40%), yet was less prevalent amongst early Neolithic farmers (~19%) and virtually absent in Mesolithic hunter-gatherers. To investigate this haplogroup’s significance in the maternal population history of Europeans we employed novel techniques such as DNA immortalization and hybridization-enrichment to sequence 39 hg H mt genomes from ancient human remains across a transect through time in Neolithic Central Europe.
The results of our population genetic analyses reveal that the current patterns of diversity and distribution of hg H were largely established during the Mid-Neolithic, but with substantial genetic contributions from subsequent pan-European cultures such as the Bell Beakers, which expanded out of Iberia in the Late Neolithic (~2800 BC). Using a strict diachronic approach allowed us to reconcile ‘real-time’ genetic data from the most common European mtDNA hg with cultural changes that took place between the Early Neolithic (~5450 BC) and Bronze Age (~2200 BC) in Central Europe. This revealed the Late Neolithic (2800-2200 BC) as a dynamic period that profoundly shaped the genetic landscape of modern-day Europeans.
Furthermore, linking ancient hg H genome sequences to specific points in time by using radiocarbon dates as tip calibrations allowed us to reconstruct a precise lineage history of hg H and to calculate a mutation rate 45% higher than traditional estimates based on the human/chimp split.
We thank the Australian Research Council (grant LP0882622), the Deutsche Forschungsgemeinschaft (Al 287/7-1 and Me 3245/1-1) and National Geographic’s Genographic Project for funding. M.v.O. was supported in part by the Netherlands Forensic Institute (NFI) and a grant from the Netherlands Genomics Initiative (NGI)/Netherlands Organization for Scientific Research (NWO) within the framework of the Forensic Genomics Consortium Netherlands (FGCN).