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

Iñigo Olalde; Morten Erik Allentoft; Federico Sánchez-Quinto; Gabriel Santpere; Charleston W. K. Chiang; Michael DiGeorgio; Javier Prado-Martínez; Juan Antonio Rodríguez; Simon Rasmussen; Javier Quilez; Oscar Ramírez; Urko M. Marigorta; Marcos Fernández-Callejo; María Encina Prada; Julio Manuel Vidal Encinas; Rasmus Nielsen; Mihai G. Netea; John Novembre; Richard A. Sturm; Pardis Sabeti; Tomàs Marquès-Bonet; Arcadi Navarro; Eske Willerslev; Carles Lalueza-Fox

doi:10.1038/nature12960

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

Iñigo Olalde, Morten Erik Allentoft, Federico Sánchez-Quinto, Gabriel Santpere, Charleston W. K. Chiang, Michael DiGeorgio, Javier Prado-Martínez, Juan Antonio Rodríguez, Simon Rasmussen, Javier Quilez, Oscar Ramírez, Urko M. Marigorta, Marcos Fernández-Callejo, María Encina Prada, Julio Manuel Vidal Encinas, Rasmus Nielsen, Mihai G. Netea, John Novembre, Richard A. Sturm, Pardis SabetiTomàs Marquès-Bonet, Arcadi Navarro, Eske Willerslev, Carles Lalueza-Fox

189 Citations (Scopus)

Abstract

Ancient 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.

Original language	English
Journal	Nature
Volume	507
Issue number	7491
Pages (from-to)	225-228
Number of pages	4
ISSN	0028-0836
DOIs	https://doi.org/10.1038/nature12960
Publication status	Published - 2014

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Olalde, I., Allentoft, M. E., Sánchez-Quinto, F., Santpere, G., Chiang, C. W. K., DiGeorgio, M., Prado-Martínez, J., Rodríguez, J. A., Rasmussen, S., Quilez, J., Ramírez, O., Marigorta, U. M., Fernández-Callejo, M., Prada, M. E., Encinas, J. M. V., Nielsen, R., Netea, M. G., Novembre, J., Sturm, R. A., ... Lalueza-Fox, C. (2014). Derived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European. Nature, 507(7491), 225-228. https://doi.org/10.1038/nature12960

Olalde, I, Allentoft, ME, Sánchez-Quinto, F, Santpere, G, Chiang, CWK, DiGeorgio, M, Prado-Martínez, J, Rodríguez, JA, Rasmussen, S, Quilez, J, Ramírez, O, Marigorta, UM, Fernández-Callejo, M, Prada, ME, Encinas, JMV, Nielsen, R, Netea, MG, Novembre, J, Sturm, RA, Sabeti, P, Marquès-Bonet, T, Navarro, A, Willerslev, E & Lalueza-Fox, C 2014, 'Derived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European', Nature, vol. 507, no. 7491, pp. 225-228. https://doi.org/10.1038/nature12960

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

abstract = "Ancient 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 Bra{\~n}a-Arintero site in Le{\'o}n, 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 Bra{\~n}a 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.",

author = "I{\~n}igo Olalde and Allentoft, {Morten Erik} and Federico S{\'a}nchez-Quinto and Gabriel Santpere and Chiang, {Charleston W. K.} and Michael DiGeorgio and Javier Prado-Mart{\'i}nez and Rodr{\'i}guez, {Juan Antonio} and Simon Rasmussen and Javier Quilez and Oscar Ram{\'i}rez and Marigorta, {Urko M.} and Marcos Fern{\'a}ndez-Callejo and Prada, {Mar{\'i}a Encina} and Encinas, {Julio Manuel Vidal} and Rasmus Nielsen and Netea, {Mihai G.} and John Novembre and Sturm, {Richard A.} and Pardis Sabeti and Tom{\`a}s Marqu{\`e}s-Bonet and Arcadi Navarro and Eske Willerslev and Carles Lalueza-Fox",

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AU - Olalde, Iñigo

AU - Allentoft, Morten Erik

AU - Sánchez-Quinto, Federico

AU - Santpere, Gabriel

AU - Chiang, Charleston W. K.

AU - DiGeorgio, Michael

AU - Prado-Martínez, Javier

AU - Rodríguez, Juan Antonio

AU - Rasmussen, Simon

AU - Quilez, Javier

AU - Ramírez, Oscar

AU - Marigorta, Urko M.

AU - Fernández-Callejo, Marcos

AU - Prada, María Encina

AU - Encinas, Julio Manuel Vidal

AU - Nielsen, Rasmus

AU - Netea, Mihai G.

AU - Novembre, John

AU - Sturm, Richard A.

AU - Sabeti, Pardis

AU - Marquès-Bonet, Tomàs

AU - Navarro, Arcadi

AU - Willerslev, Eske

AU - Lalueza-Fox, Carles

PY - 2014

Y1 - 2014

N2 - Ancient 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.

AB - Ancient 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.

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DO - 10.1038/nature12960

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VL - 507

SP - 225

EP - 228

JO - Nature

JF - Nature

IS - 7491

ER -

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

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