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Title

Derived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European

AuthorsOlalde, Iñigo ; Sánchez-Quinto, Federico ; Santpere, Gabriel ; Prado-Martinez, Javier ; Rodríguez-Pérez, Juan Antonio ; Quilez, Javier ; Marigorta, Urko M. ; Fernández-Callejo, Marcos; Lalueza-Fox, Carles
Issue Date2014
PublisherNature Publishing Group
CitationNature 507: 225- 228 (2014)
AbstractAncient genomic sequences have started to reveal the origin and the demographic impact of farmers from the Neolithic period spreading into Europe. The adoption of farming, stock breeding and sedentary societies during the Neolithic may have resulted in adaptive changes in genes associated with immunity and diet. However, the limited data available from earlier hunter-gatherers preclude an understanding of the selective processes associated with this crucial transition to agriculture in recent human evolution. Here we sequence an approximately 7,000-year-old Mesolithic skeleton discovered at the La Braña-Arintero site in León, Spain, to retrieve a complete pre-agricultural European human genome. Analysis of this genome in the context of other ancient samples suggests the existence of a common ancient genomic signature across western and central Eurasia from the Upper Paleolithic to the Mesolithic. The La Braña individual carries ancestral alleles in several skin pigmentation genes, suggesting that the light skin of modern Europeans was not yet ubiquitous in Mesolithic times. Moreover, we provide evidence that a significant number of derived, putatively adaptive variants associated with pathogen resistance in modern Europeans were already present in this hunter-gatherer. © 2014 Macmillan Publishers Limited. All rights reserved.
DescriptionThe authors thank L. A. Grau Lobo (Museo de León) for access to the La Braña specimen, M. Rasmussen and H. Schroeder for valid input into the experimental work, and M. Raghavan for early access to Mal'ta genome data. Sequencing was performed at the Danish National High-Throughput DNA-Sequencing Centre, University of Copenhagen. The POPRES data were obtained from dbGaP (accession number 2038).
Olalde, Iñigo et al.
Publisher version (URL)http://dx.doi.org/10.1038/nature12960
URIhttp://hdl.handle.net/10261/109093
DOI10.1038/nature12960
Identifiersdoi: 10.1038/nature12960
issn: 1476-4687
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