Genetic population structure across Brittany and the downstream Loire basin provides new insights on the demographic history of Western Europe
Isabel Alves
(1)
,
Joanna Giemza
(2)
,
Michael Blum
(3)
,
Carolina Bernhardsson
(4)
,
Stéphanie Chatel
(2)
,
Matilde Karakachoff
(5, 6, 2)
,
Aude Saint Pierre
(7)
,
Anthony Herzig
(7)
,
Robert Olaso
(8, 9)
,
Martial Monteil
(10)
,
Véronique Gallien
(11, 12)
,
Elodie Cabot
(13)
,
Emma Svensson
(14)
,
Delphine Bacq-Daian
(8, 15)
,
Estelle Baron
(2)
,
Charlotte Berthellier
(2)
,
Céline Besse
(8)
,
Hélène Blanché
(16, 17)
,
Ozvan Bocher
(7, 18)
,
Anne Boland
(8)
,
Stéphanie Bonnaud
(19)
,
Eric Charpentier
(19)
,
Claire Dandine-Roulland
(8, 15)
,
Claude Férec
(7)
,
Christine Fruchet
(2)
,
Simon Lecointe
(2)
,
Edith Le Floch
(8)
,
Thomas Ludwig
(7)
,
Gaëlle Marenne
(7)
,
Vincent Meyer
(20)
,
Elisabeth Quellery
(2)
,
Fernando Racimo
(21)
,
Karen Rouault
(22, 7)
,
Florian Sandron
(8)
,
Jean-Jacques Schott
(2)
,
Lourdes Velo Suarez
(7)
,
Jade Violleau
(2)
,
Eske Willerslev
(23, 24)
,
Yves Coativy
(25)
,
Mael Jézéquel
(25)
,
Daniel Le-Bris
(25)
,
Clément Nicolas
(26)
,
Yvan Pailler
(27)
,
Marcel Goldberg
(28)
,
Marie Zins
(28)
,
Hervé Le-Marec
(2)
,
Mattias Jakobsson
(4)
,
Pierre Darlu
(29)
,
Emmanuelle Génin
(7)
,
Jean-François Deleuze
(8, 17)
,
Richard Redon
(2)
,
Christian Dina
(2)
1
CBMN -
Chimie et Biologie des Membranes et des Nanoobjets
2 ITX-lab - ITX-lab unité de recherche de l'institut du thorax UMR1087 UMR6291
3 Owkin France
4 Uppsala University
5 CIC 0004 - Nantes - Centre d'investigation clinique (CIC) de Nantes -CIC Plurithématique
6 Institut du Thorax [Nantes]
7 GGB - Génétique, génomique fonctionnelle et biotechnologies (UMR 1078)
8 CNRGH - Centre National de Recherche en Génomique Humaine
9 Medical Genomics - Laboratory of Excellence GENMED [Paris]
10 CReAAH - Centre de Recherche en Archéologie, Archéosciences, Histoire
11 Inrap - Institut national de recherches archéologiques préventives
12 CEPAM - Culture et Environnements, Préhistoire, Antiquité, Moyen-Age
13 Inrap, Cesson-Sévigné - Institut national de recherches archéologiques préventives - Centre de recherches archéologiques de Cesson-Sévigné
14 Uppsala Universitet [Uppsala]
15 JACOB - Institut de Biologie François JACOB
16 CEPH - Centre d'Etude du Polymorphisme Humain
17 Fondation Jean Dausset CEPH
18 HMGU - Helmholtz Zentrum München = German Research Center for Environmental Health
19 Nantes Univ - SFR François Bonamy - Structure fédérative de recherche François Bonamy
20 Métis Lab EM Normandie
21 Globe Institute
22 CHRU Brest - Centre Hospitalier Régional Universitaire de Brest
23 UCPH - University of Copenhagen = Københavns Universitet
24 CAM - University of Cambridge [UK]
25 CRBC Brest - Centre de recherche bretonne et celtique
26 Trajectoires - UMR 8215
27 LETG - Littoral, Environnement, Télédétection, Géomatique UMR 6554
28 CONSTANCES - Cohortes épidémiologiques en population
29 EA - Éco-Anthropologie
2 ITX-lab - ITX-lab unité de recherche de l'institut du thorax UMR1087 UMR6291
3 Owkin France
4 Uppsala University
5 CIC 0004 - Nantes - Centre d'investigation clinique (CIC) de Nantes -CIC Plurithématique
6 Institut du Thorax [Nantes]
7 GGB - Génétique, génomique fonctionnelle et biotechnologies (UMR 1078)
8 CNRGH - Centre National de Recherche en Génomique Humaine
9 Medical Genomics - Laboratory of Excellence GENMED [Paris]
10 CReAAH - Centre de Recherche en Archéologie, Archéosciences, Histoire
11 Inrap - Institut national de recherches archéologiques préventives
12 CEPAM - Culture et Environnements, Préhistoire, Antiquité, Moyen-Age
13 Inrap, Cesson-Sévigné - Institut national de recherches archéologiques préventives - Centre de recherches archéologiques de Cesson-Sévigné
14 Uppsala Universitet [Uppsala]
15 JACOB - Institut de Biologie François JACOB
16 CEPH - Centre d'Etude du Polymorphisme Humain
17 Fondation Jean Dausset CEPH
18 HMGU - Helmholtz Zentrum München = German Research Center for Environmental Health
19 Nantes Univ - SFR François Bonamy - Structure fédérative de recherche François Bonamy
20 Métis Lab EM Normandie
21 Globe Institute
22 CHRU Brest - Centre Hospitalier Régional Universitaire de Brest
23 UCPH - University of Copenhagen = Københavns Universitet
24 CAM - University of Cambridge [UK]
25 CRBC Brest - Centre de recherche bretonne et celtique
26 Trajectoires - UMR 8215
27 LETG - Littoral, Environnement, Télédétection, Géomatique UMR 6554
28 CONSTANCES - Cohortes épidémiologiques en population
29 EA - Éco-Anthropologie
Anthony Herzig
- Function : Author
- PersonId : 1143904
- ORCID : 0000-0001-9392-9924
- IdRef : 254067239
Martial Monteil
- Function : Author
- PersonId : 182072
- IdHAL : martial-monteil
- ORCID : 0000-0002-9455-1078
- IdRef : 031790135
Claude Férec
- Function : Author
- PersonId : 1028449
- ORCID : 0000-0002-2325-0710
Thomas Ludwig
- Function : Author
- PersonId : 754585
- IdHAL : thomas-e-ludwig
- ORCID : 0000-0002-9996-1084
- IdRef : 132042843
Gaëlle Marenne
- Function : Author
- PersonId : 752532
- IdHAL : gaelle-marenne
- ORCID : 0000-0002-4363-7170
- IdRef : 182041603
Karen Rouault
- Function : Author
- PersonId : 1211478
- ORCID : 0000-0001-7586-3212
Yvan Pailler
- Function : Author
- PersonId : 6359
- IdHAL : yvan-pailler
- ORCID : 0000-0002-4782-1389
- IdRef : 123951755
Emmanuelle Génin
- Function : Author
- PersonId : 181372
- IdHAL : emmanuelle-genin
- ORCID : 0000-0003-4117-2813
- IdRef : 114211302
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.