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Nat Commun. 2013;4:1764. doi: 10.1038/ncomms2656.

Neolithic mitochondrial haplogroup H genomes and the genetic origins of Europeans.

Author information

1
The Australian Centre for Ancient DNA, University of Adelaide, Adelaide, South Australia 5005, Australia.
2
Archaeogenetics Research Group, School of Applied Sciences, University of Huddersfield, Queensgate, Huddersfield HD1 3DH, UK.
3
Institute of Anthropology, Colonel-Kleinmann Weg 2, Johannes Gutenberg University, Mainz, D-55128 Mainz, Germany.
4
State Office for Heritage Management and Archaeology Saxony-Anhalt / State Museum for Prehistory Halle, Richard-Wagner-Straße 9, D-06114 Halle/Saale, Germany.
5
Department of Forensic Molecular Biology, Erasmus MC, University Medical Centre, Rotterdam, 3000 CA Rotterdam, The Netherlands.
6
SA Pathology, Adelaide, South Australia 5000, Australia.
7
Pacific Biosciences, USA.
8
School of Biological Sciences, The University of Sydney, New South Wales 2006, Australia.
9
Institut Pasteur, Paris, France.
10
Rambam Medical Centre, 31096 Haifa, Israel.
#
Contributed equally

Abstract

Haplogroup H dominates present-day Western European mitochondrial DNA variability (>40%), yet was less common (~19%) among Early Neolithic farmers (~5450 BC) and virtually absent in Mesolithic hunter-gatherers. Here we investigate this major component of the maternal population history of modern Europeans and sequence 39 complete haplogroup H mitochondrial genomes from ancient human remains. We then compare this 'real-time' genetic data with cultural changes taking place between the Early Neolithic (~5450 BC) and Bronze Age (~2200 BC) in Central Europe. Our results reveal that the current diversity and distribution of haplogroup H were largely established by the Mid Neolithic (~4000 BC), but with substantial genetic contributions from subsequent pan-European cultures such as the Bell Beakers expanding out of Iberia in the Late Neolithic (~2800 BC). Dated haplogroup H genomes allow us to reconstruct the recent evolutionary history of haplogroup H and reveal a mutation rate 45% higher than current estimates for human mitochondria.

PMID:
23612305
PMCID:
PMC3978205
DOI:
10.1038/ncomms2656
[Indexed for MEDLINE]
Free PMC Article

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