The Counteracting effects of demography on functional genomic variation : The Roma Paradigm
Font-Porterias, Neus (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut)
Caro-Consuegra, Rocio (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut)
Lucas-Sánchez, Marcel (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut)
Lopez, Marie (Institut Pasteur. Human Evolutionary Genetics Unit)
Giménez, Aaron (Universitat Autònoma de Barcelona. Departament de Sociologia)
Carballo-Mesa, Annabel (Universitat de Barcelona. Facultat de Geografia i Història)
Bosch, Elena (Centro de Investigación Biomédica en Red de Salud Mental)
Calafell, Francesc (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut)
Quintana-Murci, Lluís (Collège de France. Human Genomics and Evolution)
Comas, D. (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut)

Date:	2021
Abstract:	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.
Grants:	Agencia Estatal de Investigación PID2019-106485GB-I00 Ministerio de Ciencia, Innovación y Universidades CGL2016-75389-P Agencia Estatal de Investigación CEX2018-000792-M
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Demography ; Admixture ; Adaptation ; Exomes ; Roma ; Mutational load
Published in:	Molecular biology and evolution, Vol. 38 (march 2021) , p. 2804-2817, ISSN 1537-1719

DOI: 10.1093/molbev/msab070
PMID: 33713133

14 p, 657.8 KB

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