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...
| Autores: | , , , , , , , , , |
|---|---|
| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2021 |
| País: | España |
| Institución: | Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
| Repositorio: | Recercat. Dipósit de la Recerca de Catalunya |
| OAI Identifier: | oai:recercat.cat:10230/48317 |
| Acceso en línea: | http://hdl.handle.net/10230/48317 http://dx.doi.org/10.1093/molbev/msab070 |
| Access Level: | acceso abierto |
| Palabra clave: | Roma Adaptation Admixture Demography Exomes Mutational load |
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The counteracting effects of demography on functional genomic variation: the Roma paradigmFont-Porterias, NeusCaro Consuegra, RocioLucas Sánchez, MarcelLópez, MarieGiménez, AaronCarballo Mesa, AnnabelBosch Fusté, ElenaCalafell i Majó, FrancescQuintana Murci, LluisComas, David, 1969-RomaAdaptationAdmixtureDemographyExomesMutational loadDemographic 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 Press202120212021info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttp://hdl.handle.net/10230/48317http://dx.doi.org/10.1093/molbev/msab070reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésMol Biol Evol. 2021;38(7):2804-17© The Author(s) 2021. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. 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/), 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.comhttp://creativecommons.org/licenses/by-nc/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:10230/483172026-05-29T05:05:01Z |
| dc.title.none.fl_str_mv |
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 |
| spellingShingle |
The counteracting effects of demography on functional genomic variation: the Roma paradigm Font-Porterias, Neus Roma Adaptation Admixture Demography Exomes Mutational load |
| title_short |
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_sort |
The counteracting effects of demography on functional genomic variation: the Roma paradigm |
| dc.creator.none.fl_str_mv |
Font-Porterias, Neus Caro Consuegra, Rocio Lucas Sánchez, Marcel López, Marie Giménez, Aaron Carballo Mesa, Annabel Bosch Fusté, Elena Calafell i Majó, Francesc Quintana Murci, Lluis Comas, David, 1969- |
| author |
Font-Porterias, Neus |
| author_facet |
Font-Porterias, Neus Caro Consuegra, Rocio Lucas Sánchez, Marcel López, Marie Giménez, Aaron Carballo Mesa, Annabel Bosch Fusté, Elena Calafell i Majó, Francesc Quintana Murci, Lluis Comas, David, 1969- |
| author_role |
author |
| author2 |
Caro Consuegra, Rocio Lucas Sánchez, Marcel López, Marie Giménez, Aaron Carballo Mesa, Annabel Bosch Fusté, Elena Calafell i Majó, Francesc Quintana Murci, Lluis Comas, David, 1969- |
| author2_role |
author author author author author author author author author |
| dc.subject.none.fl_str_mv |
Roma Adaptation Admixture Demography Exomes Mutational load |
| topic |
Roma Adaptation Admixture Demography Exomes Mutational load |
| 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. |
| publishDate |
2021 |
| dc.date.none.fl_str_mv |
2021 2021 2021 |
| dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
| format |
article |
| status_str |
publishedVersion |
| dc.identifier.none.fl_str_mv |
http://hdl.handle.net/10230/48317 http://dx.doi.org/10.1093/molbev/msab070 |
| url |
http://hdl.handle.net/10230/48317 http://dx.doi.org/10.1093/molbev/msab070 |
| dc.language.none.fl_str_mv |
Inglés |
| language_invalid_str_mv |
Inglés |
| dc.relation.none.fl_str_mv |
Mol Biol Evol. 2021;38(7):2804-17 |
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http://creativecommons.org/licenses/by-nc/4.0/ info:eu-repo/semantics/openAccess |
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http://creativecommons.org/licenses/by-nc/4.0/ |
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openAccess |
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application/pdf application/pdf |
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Oxford University Press |
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Oxford University Press |
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reponame:Recercat. Dipósit de la Recerca de Catalunya instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
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Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
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Recercat. Dipósit de la Recerca de Catalunya |
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Recercat. Dipósit de la Recerca de Catalunya |
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