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The Counteracting Effects of Demography on Functional Genomic Variation: The Roma Paradigm

Demographic history plays a major role in shaping the distribution of genomic variation. Yet the interaction between different demographic forces and their effects in the genomes is not fully resolved in human populations. Here, we focus on the Roma population, the largest transnational ethnic minor...

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Autores principales: Font-Porterias, Neus, Caro-Consuegra, Rocio, Lucas-Sánchez, Marcel, Lopez, Marie, Giménez, Aaron, Carballo-Mesa, Annabel, Bosch, Elena, Calafell, Francesc, Quintana-Murci, Lluís, Comas, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8233508/
https://www.ncbi.nlm.nih.gov/pubmed/33713133
http://dx.doi.org/10.1093/molbev/msab070
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author Font-Porterias, Neus
Caro-Consuegra, Rocio
Lucas-Sánchez, Marcel
Lopez, Marie
Giménez, Aaron
Carballo-Mesa, Annabel
Bosch, Elena
Calafell, Francesc
Quintana-Murci, Lluís
Comas, David
author_facet Font-Porterias, Neus
Caro-Consuegra, Rocio
Lucas-Sánchez, Marcel
Lopez, Marie
Giménez, Aaron
Carballo-Mesa, Annabel
Bosch, Elena
Calafell, Francesc
Quintana-Murci, Lluís
Comas, David
author_sort Font-Porterias, Neus
collection PubMed
description Demographic history plays a major role in shaping the distribution of genomic variation. Yet the interaction between different demographic forces and their effects in the genomes is not fully resolved in human populations. Here, we focus on the Roma population, the largest transnational ethnic minority in Europe. They have a South Asian origin and their demographic history is characterized by recent dispersals, multiple founder events, and extensive gene flow from non-Roma groups. Through the analyses of new high-coverage whole exome sequences and genome-wide array data for 89 Iberian Roma individuals together with forward simulations, we show that founder effects have reduced their genetic diversity and proportion of rare variants, gene flow has counteracted the increase in mutational load, runs of homozygosity show ancestry-specific patterns of accumulation of deleterious homozygotes, and selection signals primarily derive from preadmixture adaptation in the Roma population sources. The present study shows how two demographic forces, bottlenecks and admixture, act in opposite directions and have long-term balancing effects on the Roma genomes. Understanding how demography and gene flow shape the genome of an admixed population provides an opportunity to elucidate how genomic variation is modeled in human populations.
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spelling pubmed-82335082021-06-28 The Counteracting Effects of Demography on Functional Genomic Variation: The Roma Paradigm Font-Porterias, Neus Caro-Consuegra, Rocio Lucas-Sánchez, Marcel Lopez, Marie Giménez, Aaron Carballo-Mesa, Annabel Bosch, Elena Calafell, Francesc Quintana-Murci, Lluís Comas, David Mol Biol Evol Discoveries Demographic history plays a major role in shaping the distribution of genomic variation. Yet the interaction between different demographic forces and their effects in the genomes is not fully resolved in human populations. Here, we focus on the Roma population, the largest transnational ethnic minority in Europe. They have a South Asian origin and their demographic history is characterized by recent dispersals, multiple founder events, and extensive gene flow from non-Roma groups. Through the analyses of new high-coverage whole exome sequences and genome-wide array data for 89 Iberian Roma individuals together with forward simulations, we show that founder effects have reduced their genetic diversity and proportion of rare variants, gene flow has counteracted the increase in mutational load, runs of homozygosity show ancestry-specific patterns of accumulation of deleterious homozygotes, and selection signals primarily derive from preadmixture adaptation in the Roma population sources. The present study shows how two demographic forces, bottlenecks and admixture, act in opposite directions and have long-term balancing effects on the Roma genomes. Understanding how demography and gene flow shape the genome of an admixed population provides an opportunity to elucidate how genomic variation is modeled in human populations. Oxford University Press 2021-03-13 /pmc/articles/PMC8233508/ /pubmed/33713133 http://dx.doi.org/10.1093/molbev/msab070 Text en © The Author(s) 2021. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) ), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Discoveries
Font-Porterias, Neus
Caro-Consuegra, Rocio
Lucas-Sánchez, Marcel
Lopez, Marie
Giménez, Aaron
Carballo-Mesa, Annabel
Bosch, Elena
Calafell, Francesc
Quintana-Murci, Lluís
Comas, David
The Counteracting Effects of Demography on Functional Genomic Variation: The Roma Paradigm
title The Counteracting Effects of Demography on Functional Genomic Variation: The Roma Paradigm
title_full The Counteracting Effects of Demography on Functional Genomic Variation: The Roma Paradigm
title_fullStr The Counteracting Effects of Demography on Functional Genomic Variation: The Roma Paradigm
title_full_unstemmed The Counteracting Effects of Demography on Functional Genomic Variation: The Roma Paradigm
title_short The Counteracting Effects of Demography on Functional Genomic Variation: The Roma Paradigm
title_sort counteracting effects of demography on functional genomic variation: the roma paradigm
topic Discoveries
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8233508/
https://www.ncbi.nlm.nih.gov/pubmed/33713133
http://dx.doi.org/10.1093/molbev/msab070
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