Neolithic mitochondrial haplogroup H genomes and the genetic origins of Europeans

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

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Demography
  • European Continental Ancestry Group / genetics*
  • Evolution, Molecular
  • Genetics, Population
  • Genome, Human / genetics*
  • Genome, Mitochondrial / genetics*
  • Haplotypes / genetics*
  • Humans
  • Molecular Sequence Data
  • Phylogeny*
  • Principal Component Analysis
  • Sequence Analysis, DNA
  • Time Factors

Associated data

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