Genetic population structure across Brittany and the downstream Loire basin provides new insights on the demographic history of Western Europe
Isabel Alves
,
Joanna Giemza
(1)
,
Michael Blum
(2)
,
Carolina Bernhardsson
,
Stéphanie Chatel
,
Matilde Karakachoff
,
Aude Saint Pierre
,
Anthony Herzig
(3)
,
Robert Olaso
(4, 5)
,
Martial Monteil
(6)
,
Véronique Gallien
(7, 8)
,
Elodie Cabot
(9)
,
Emma Svensson
,
Delphine Bacq-Daian
(4, 10)
,
Estelle Baron
(1)
,
Charlotte Berthellier
,
Céline Besse
(4)
,
Hélène Blanché
(11, 12)
,
Ozvan Bocher
(3, 13)
,
Anne Boland
(4)
,
Stéphanie Bonnaud
,
Eric Charpentier
,
Claire Dandine-Roulland
,
Claude Férec
,
Christine Fruchet
,
Simon Lecointe
,
Edith Le Floch
,
Thomas Ludwig
,
Gaëlle Marenne
,
Vincent Meyer
,
Elisabeth Quellery
,
Fernando Racimo
,
Karen Rouault
,
Florian Sandron
,
Jean-Jacques Schott
,
Lourdes Velo Suarez
,
Jade Violleau
,
Eske Willerslev
,
Yves Coativy
,
Mael Jézéquel
,
Daniel Le-Bris
,
Clément Nicolas
,
Yvan Pailler
,
Marcel Goldberg
,
Marie Zins
,
Hervé Le-Marec
,
Mattias Jakobsson
,
Pierre Darlu
,
Emmanuelle Génin
,
Jean-François Deleuze
,
Richard Redon
,
Christian Dina
1
ITX-lab -
ITX-lab unité de recherche de l'institut du thorax UMR1087 UMR6291
2 Owkin France
3 GGB - Génétique, génomique fonctionnelle et biotechnologies (UMR 1078)
4 CNRGH - Centre National de Recherche en Génomique Humaine
5 Medical Genomics - Laboratory of Excellence GENMED [Paris]
6 CReAAH - Centre de Recherche en Archéologie, Archéosciences, Histoire
7 Inrap - Institut national de recherches archéologiques préventives
8 CEPAM - Culture et Environnements, Préhistoire, Antiquité, Moyen-Age
9 Inrap, Cesson-Sévigné - Institut national de recherches archéologiques préventives - Centre de recherches archéologiques de Cesson-Sévigné
10 JACOB - Institut de Biologie François JACOB
11 CEPH - Centre d'Etude du Polymorphisme Humain
12 Fondation Jean Dausset CEPH
13 Helmholtz Zentrum München = German Research Center for Environmental Health
2 Owkin France
3 GGB - Génétique, génomique fonctionnelle et biotechnologies (UMR 1078)
4 CNRGH - Centre National de Recherche en Génomique Humaine
5 Medical Genomics - Laboratory of Excellence GENMED [Paris]
6 CReAAH - Centre de Recherche en Archéologie, Archéosciences, Histoire
7 Inrap - Institut national de recherches archéologiques préventives
8 CEPAM - Culture et Environnements, Préhistoire, Antiquité, Moyen-Age
9 Inrap, Cesson-Sévigné - Institut national de recherches archéologiques préventives - Centre de recherches archéologiques de Cesson-Sévigné
10 JACOB - Institut de Biologie François JACOB
11 CEPH - Centre d'Etude du Polymorphisme Humain
12 Fondation Jean Dausset CEPH
13 Helmholtz Zentrum München = German Research Center for Environmental Health
Isabel Alves
- Function : Author
Carolina Bernhardsson
- Function : Author
Stéphanie Chatel
- Function : Author
Matilde Karakachoff
- Function : Author
Aude Saint Pierre
- Function : Author
Martial Monteil
- Function : Author
- PersonId : 182072
- IdHAL : martial-monteil
- ORCID : 0000-0002-9455-1078
- IdRef : 031790135
Emma Svensson
- Function : Author
Charlotte Berthellier
- Function : Author
Stéphanie Bonnaud
- Function : Author
Eric Charpentier
- Function : Author
Claire Dandine-Roulland
- Function : Author
Claude Férec
- Function : Author
Christine Fruchet
- Function : Author
Simon Lecointe
- Function : Author
Edith Le Floch
- Function : Author
Thomas Ludwig
- Function : Author
Gaëlle Marenne
- Function : Author
Vincent Meyer
- Function : Author
Elisabeth Quellery
- Function : Author
Fernando Racimo
- Function : Author
Karen Rouault
- Function : Author
Florian Sandron
- Function : Author
Jean-Jacques Schott
- Function : Author
Lourdes Velo Suarez
- Function : Author
Jade Violleau
- Function : Author
Eske Willerslev
- Function : Author
Yves Coativy
- Function : Author
Mael Jézéquel
- Function : Author
Daniel Le-Bris
- Function : Author
Clément Nicolas
- Function : Author
Yvan Pailler
- Function : Author
Marcel Goldberg
- Function : Author
Marie Zins
- Function : Author
Hervé Le-Marec
- Function : Author
Mattias Jakobsson
- Function : Author
Pierre Darlu
- Function : Author
Emmanuelle Génin
- Function : Author
Jean-François Deleuze
- Function : Author
Richard Redon
- Function : Author
Christian Dina
- Function : Author
Abstract
European genetic ancestry originates from three main ancestral populations - Western hunter-gatherers, early European farmers and Yamnaya Eurasian herders - whose edges geographically met in present-day France. Despite its central role to our understanding of how the ancestral populations interacted and gave rise to modern population structure, the population history of France has remained largely understudied. Here, we analysed 856 high-coverage whole-genome sequences along with genome-wide genotyping data of 3,234 present-day individuals from the northern half of France and merged them with publicly available present-day and ancient Europe-wide genotype datasets. We also analysed, for the first time, the whole-genome sequences of six medieval individuals (300-1100 CE) from Western France to gain insights into the genetic impact of what is commonly known as the Migration Period in Europe. We found extensive fine-scale population structure across Brittany and the downstream Loire basin, emphasizing the need for investigating local populations to better understand the distribution of rare and putatively deleterious variants across space. Overall, we observed an increased population differentiation between the northern and southern sides of the river Loire, which are characterised by different proportions of steppe vs. Neolithic-related ancestry. Samples from Western Brittany carry the largest levels of steppe ancestry and show high levels of allele sharing with individuals associated with the Bell Beaker complex, levels that are only comparable with those found in populations lying on the northwestern edges of Europe. Together, our results imply that present-day individuals from Western Brittany retain substantial legacy of the genetic changes that occurred in Northwestern Europe following the arrival of the Bell Beaker people c. 2500 BCE. Such genetic legacy may explain the sharing of disease-related alleles with other present-day populations from Western Britain and Ireland.