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Patterns of genetic differentiation and the footprints of historical migrations in the Iberian Peninsula

View ORCID ProfileClare Bycroft, View ORCID ProfileCeres Fernandez-Rozadilla, View ORCID ProfileClara Ruiz-Ponte, Inés Quintela-García, View ORCID ProfileÁngel Carracedo, View ORCID ProfilePeter Donnelly, View ORCID ProfileSimon Myers
doi: https://doi.org/10.1101/250191
Clare Bycroft
Wellcome Centre for Human Genetics, University of Oxford
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Ceres Fernandez-Rozadilla
Fundación Pública Galega de Medicina Xenómica-CIBERER-IDIS, Santiago de Compostela
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  • ORCID record for Ceres Fernandez-Rozadilla
Clara Ruiz-Ponte
Fundación Pública Galega de Medicina Xenómica-CIBERER-IDIS, Santiago de Compostela
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  • ORCID record for Clara Ruiz-Ponte
Inés Quintela-García
Fundación Pública Galega de Medicina Xenómica-CIBERER-IDIS, Santiago de CompostelaGrupo de Medicina Xenómica, Centro Nacional de Genotipado (CEGEN-PRB2-ISCIII). Universidade de Santiago de Compostela
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Ángel Carracedo
Fundación Pública Galega de Medicina Xenómica-CIBERER-IDIS, Santiago de CompostelaGrupo de Medicina Xenómica, Centro Nacional de Genotipado (CEGEN-PRB2-ISCIII). Universidade de Santiago de Compostela
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Peter Donnelly
Wellcome Centre for Human Genetics, University of OxfordDepartment of Statistics, University of Oxford
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Simon Myers
Department of Statistics, University of OxfordWellcome Centre for Human Genetics, University of Oxford
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  • For correspondence: myers@stats.ox.ac.uk
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Abstract

Genetic differences within or between human populations (population structure) has been studied using a variety of approaches over many years. Recently there has been an increasing focus on studying genetic differentiation at fine geographic scales, such as within countries. Identifying such structure allows the study of recent population history, and identifies the potential for confounding in association studies, particularly when testing rare, often recently arisen variants. The Iberian Peninsula is linguistically diverse, has a complex demographic history, and is unique among European regions in having a centuries-long period of Muslim rule. Previous genetic studies of Spain have examined either a small fraction of the genome or only a few Spanish regions. Thus, the overall pattern of fine-scale population structure within Spain remains uncharacterised. Here we analyse genome-wide genotyping array data for 1,413 Spanish individuals sampled from all regions of Spain. We identify extensive fine-scale structure, down to unprecedented scales, smaller than 10 Km in some places. We observe a major axis of genetic differentiation that runs from east to west of the peninsula. In contrast, we observe remarkable genetic similarity in the north-south direction, and evidence of historical north-south population movement. Finally, without making particular prior assumptions about source populations, we show that modern Spanish people have regionally varying fractions of ancestry from a group most similar to modern north Moroccans. The north African ancestry results from an admixture event, which we date to 860 - 1120 CE, corresponding to the early half of Muslim rule. Our results indicate that it is possible to discern clear genetic impacts of the Muslim conquest and population movements associated with the subsequent Reconquista.

Footnotes

  • ↵† These authors jointly directed this work.

  • ↵1 Now part of Thermo Fisher Scientific.

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. All rights reserved. No reuse allowed without permission.
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Posted March 12, 2018.
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Patterns of genetic differentiation and the footprints of historical migrations in the Iberian Peninsula
Clare Bycroft, Ceres Fernandez-Rozadilla, Clara Ruiz-Ponte, Inés Quintela-García, Ángel Carracedo, Peter Donnelly, Simon Myers
bioRxiv 250191; doi: https://doi.org/10.1101/250191
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Patterns of genetic differentiation and the footprints of historical migrations in the Iberian Peninsula
Clare Bycroft, Ceres Fernandez-Rozadilla, Clara Ruiz-Ponte, Inés Quintela-García, Ángel Carracedo, Peter Donnelly, Simon Myers
bioRxiv 250191; doi: https://doi.org/10.1101/250191

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