ArticleMolecular biology and evolution2021
The Counteracting Effects of Demography on Functional Genomic Variation: The Roma Paradigm.
Article in Molecular biology and evolution, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 17 citations in OpenAlex.
- Whole-exome analysis in Tunisian Imazighen and Arabs shows the impact of demography in functional variation.Scientific reports · 2021Trial
- A reduction in effective population size has not relaxed purifying selection in the human population of Eivissa (Balearic Islands).Scientific reports · 2025Article
- Biogeographic Perspectives on Human Genetic Diversification.Molecular biology and evolution · 2024Article
- The Impact of Recent Demography on Functional Genetic Variation in North African Human Groups.Molecular biology and evolution · 2024Article
- Population genetic analysis of the microsporidium Ordospora colligata reveals the role of natural selection and phylogeography on its extremely compact and reduced genome.G3 (Bethesda, Md.) · 2023Article
- Genomic Insights into the Population History of the Resande or Swedish Travelers.Genome biology and evolution · 2023Article
- Characterization of Arabian Peninsula whole exomes: Contributing to the catalogue of human diversity.iScience · 2022Article
- Review
- Founder lineages in the Iberian Roma mitogenomes recapitulate the Roma diaspora and show the effects of demographic bottlenecks.Scientific reports · 2022Article
- Computational approaches for predicting variant impact: An overview from resources, principles to applications.Frontiers in genetics · 2022Review
- The genetic scenario of Mercheros: an under-represented group within the Iberian Peninsula.BMC genomics · 2021Article
- Admixture Has Shaped Romani Genetic Diversity in Clinically Relevant Variants.Frontiers in genetics · 2021Article
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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