Neolithic mitochondrial haplogroup H genomes and the genetic origins of Europeans

Brotherton, Paul; Cooper, Alan; Genographic Consortium; Bertranpetit, Jaume, 1952-; Comas, David, 1969-; Martínez Cruz, Begoña; Mele, Marta

doi:http://dx.doi.org/10.1038/ncomms2656

Neolithic mitochondrial haplogroup H genomes and the genetic origins of Europeans

Citation

Brotherton P, Haak W, Templeton J, Brandt G, Soubrier J, Jane Adler C et al. 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.