The Counteracting effects of demography on functional genomic variation : The Roma Paradigm

Autor: Neus Font-Porterias, Lluis Quintana-Murci, Marie Lopez, Francesc Calafell, Aaron Giménez, Marcel Lucas-Sánchez, Annabel Carballo-Mesa, David Comas, Rocio Caro-Consuegra, Elena Bosch
Přispěvatelé: Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Ministerio de Economía y Competitividad (España), Universitat Pompeu Fabra [Barcelona] (UPF), Génétique Evolutive Humaine - Human Evolutionary Genetics, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Universitat Autònoma de Barcelona (UAB), Universitat de Barcelona (UB), Centro de Investigación Biomédica en Red Salud Mental [Madrid] (CIBER-SAM), Chaire Génomique humaine et évolution, Collège de France (CdF (institution)), This study was supported by the Spanish Ministry of Science, Innovation and Universities (MCIU) and the Agencia Estatal de Investigación (AEI) (grant numbers CGL2016-75389-P, PID2019-106485GB-I00/AEI/10.13039/501100011033) and 'Unidad de Excelencia María de Maeztu' (AEI, CEX2018-000792-M). N.F.-P. was supported by a FPU17/03501 fellowship., Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Collège de France - Chaire Génomique humaine et évolution
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Molecular Biology and Evolution
Digital.CSIC. Repositorio Institucional del CSIC
instname
Molecular Biology and Evolution, Oxford University Press (OUP), 2021, pp.msab070. ⟨10.1093/molbev/msab070⟩
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Molecular Biology and Evolution, 2021, pp.msab070. ⟨10.1093/molbev/msab070⟩
ISSN: 0737-4038
1537-1719
DOI: 10.1093/molbev/msab070⟩
Popis: 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.
This study was supported by the Spanish Ministry of Science, Innovation and Universities (MCIU) and the Agencia Estatal de Investigación (AEI) (grant numbers CGL2016-75389-P, PID2019-106485GB-I00/AEI/10.13039/501100011033) and “Unidad de Excelencia María de Maeztu” (AEI, CEX2018-000792-M). N.F.-P. was supported by a FPU17/03501 fellowship.
With funding from the Spanish government through the "Severo Ochoa Centre of Excellence" accreditation (CEX2018-000792-M).
Databáze: OpenAIRE
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