title: Neolithic mitochondrial haplogroup H genomes and the genetic origins of Europeans.
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.
authors.affiliation: The Australian Centre for Ancient DNA, University of Adelaide, Adelaide, South Australia 5005, Australia.|Archaeogenetics Research Group, School of Applied Sciences, University of Huddersfield, Queensgate, Huddersfield HD1 3DH, UK.
authors.forename: Paul
authors.initials: P
authors.lastname: Brotherton
authors.affiliation: The Australian Centre for Ancient DNA, University of Adelaide, Adelaide, South Australia 5005, Australia.
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Haak
authors.affiliation: The Australian Centre for Ancient DNA, University of Adelaide, Adelaide, South Australia 5005, Australia.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Templeton
authors.affiliation: Institute of Anthropology, Colonel-Kleinmann Weg 2, Johannes Gutenberg University, Mainz, D-55128 Mainz, Germany.
authors.forename: Guido
authors.initials: G
authors.lastname: Brandt
authors.affiliation: The Australian Centre for Ancient DNA, University of Adelaide, Adelaide, South Australia 5005, Australia.
authors.forename: Julien
authors.initials: J
authors.lastname: Soubrier
authors.affiliation: The Australian Centre for Ancient DNA, University of Adelaide, Adelaide, South Australia 5005, Australia.
authors.forename: Christina
authors.initials: C
authors.lastname: Jane Adler
authors.affiliation: The Australian Centre for Ancient DNA, University of Adelaide, Adelaide, South Australia 5005, Australia.
authors.forename: Stephen M
authors.initials: SM
authors.lastname: Richards
authors.affiliation: The Australian Centre for Ancient DNA, University of Adelaide, Adelaide, South Australia 5005, Australia.
authors.forename: Clio
authors.initials: C
authors.lastname: Der Sarkissian
authors.affiliation: State Office for Heritage Management and Archaeology Saxony-Anhalt / State Museum for Prehistory Halle, Richard-Wagner-Straße 9, D-06114 Halle/Saale, Germany.
authors.forename: Robert
authors.initials: R
authors.lastname: Ganslmeier
authors.affiliation: State Office for Heritage Management and Archaeology Saxony-Anhalt / State Museum for Prehistory Halle, Richard-Wagner-Straße 9, D-06114 Halle/Saale, Germany.
authors.forename: Susanne
authors.initials: S
authors.lastname: Friederich
authors.affiliation: State Office for Heritage Management and Archaeology Saxony-Anhalt / State Museum for Prehistory Halle, Richard-Wagner-Straße 9, D-06114 Halle/Saale, Germany.
authors.forename: Veit
authors.initials: V
authors.lastname: Dresely
authors.affiliation: Department of Forensic Molecular Biology, Erasmus MC, University Medical Centre, Rotterdam, 3000 CA Rotterdam, The Netherlands.
authors.forename: Mannis
authors.initials: M
authors.lastname: van Oven
authors.affiliation: SA Pathology, Adelaide, South Australia 5000, Australia.
authors.forename: Rosalie
authors.initials: R
authors.lastname: Kenyon
authors.affiliation: SA Pathology, Adelaide, South Australia 5000, Australia.
authors.forename: Mark B
authors.initials: MB
authors.lastname: Van der Hoek
authors.affiliation: Pacific Biosciences, USA.
authors.forename: Jonas
authors.initials: J
authors.lastname: Korlach
authors.affiliation: Pacific Biosciences, USA.
authors.forename: Khai
authors.initials: K
authors.lastname: Luong
authors.affiliation: School of Biological Sciences, The University of Sydney, New South Wales 2006, Australia.
authors.forename: Simon Y W
authors.initials: SYW
authors.lastname: Ho
authors.affiliation: Institut Pasteur, Paris, France.
authors.forename: Lluis
authors.initials: L
authors.lastname: Quintana-Murci
authors.affiliation: Rambam Medical Centre, 31096 Haifa, Israel.
authors.forename: Doron M
authors.initials: DM
authors.lastname: Behar
authors.affiliation: State Office for Heritage Management and Archaeology Saxony-Anhalt / State Museum for Prehistory Halle, Richard-Wagner-Straße 9, D-06114 Halle/Saale, Germany.
authors.forename: Harald
authors.initials: H
authors.lastname: Meller
authors.affiliation: Institute of Anthropology, Colonel-Kleinmann Weg 2, Johannes Gutenberg University, Mainz, D-55128 Mainz, Germany.
authors.forename: Kurt W
authors.initials: KW
authors.lastname: Alt
authors.affiliation: Institute of Anthropology, Colonel-Kleinmann Weg 2, Johannes Gutenberg University, Mainz, D-55128 Mainz, Germany.
authors.forename: Alan
authors.initials: A
authors.lastname: Cooper
mesh_terms: D001483:Base Sequence; D003710:Demography; D019143:Evolution, Molecular; D005828:Genetics, Population; D015894:Genome, Human / Q000235:genetics*; D054629:Genome, Mitochondrial / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D010802:Phylogeny; D025341:Principal Component Analysis; D017422:Sequence Analysis, DNA; D013997:Time Factors; D044465:White People / Q000235:genetics*