Neolithic mitochondrial haplogroup H genomes and the genetic origins of Europeans

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 mod...

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Detalles Bibliográficos
Autores: Brotherton, Paul, Cooper, Alan, Genographic Consortium, Bertranpetit, Jaume, 1952-, Comas, David, 1969-, Martínez Cruz, Begoña, Mele, Marta
Tipo de recurso: artículo
Estado:Versión aceptada para publicación
Fecha de publicación:2013
País:España
Institución:Universitat Pompeu Fabra
Repositorio:Repositorio Digital de la UPF
OAI Identifier:oai:repositori.upf.edu:10230/36233
Acceso en línea:http://hdl.handle.net/10230/36233
http://dx.doi.org/10.1038/ncomms2656
Access Level:acceso abierto
Palabra clave:Genoma humà
ADN mitocondrial
Haplotip
Filogènia
Neolític
Europeus
Descripción
Sumario: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.