July 7, 2019  |  

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

Authors: Brotherton, Paul and Haak, Wolfgang and Templeton, Jennifer and Brandt, Guido and Soubrier, Julien and Jane Adler, Christina and Richards, Stephen M and Sarkissian, Clio Der and Ganslmeier, Robert and Friederich, Susanne and Dresely, Veit and van Oven, Mannis and Kenyon, Rosalie and Van der Hoek, Mark B and Korlach, Jonas and Luong, Khai and Ho, Simon Y W and Quintana-Murci, Lluis and Behar, Doron M and Meller, Harald and Alt, Kurt W and Cooper, Alan and Adhikarla, Syama and Ganesh Prasad, Arun Kumar and Pitchappan, Ramasamy and Varatharajan Santhakumari, Arun and Balanovska, Elena and Balanovsky, Oleg and Bertranpetit, Jaume and Comas, David and Martínez-Cruz, Begoña and Melé, Marta and Clarke, Andrew C and Matisoo-Smith, Elizabeth A and Dulik, Matthew C and Gaieski, Jill B and Owings, Amanda C and Schurr, Theodore G and Vilar, Miguel G and Hobbs, Angela and Soodyall, Himla and Javed, Asif and Parida, Laxmi and Platt, Daniel E and Royyuru, Ajay K and Jin, Li and Li, Shilin and Kaplan, Matthew E and Merchant, Nirav C and John Mitchell, R and Renfrew, Colin and Lacerda, Daniela R and Santos, Fabrício R and Soria Hernanz, David F and Spencer Wells, R and Swamikrishnan, Pandikumar and Tyler-Smith, Chris and Paulo Vieira, Pedro and Ziegle, Janet S

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.

Journal: Nature communications
DOI: 10.1038/ncomms2656
Year: 2013

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