ArticleBMC genomics2012
Evolutionary forces shaping genomic islands of population differentiation in humans.
Article in BMC genomics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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28 citing papers in PubMed, 68 citations in OpenAlex.
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- Conserved islands of divergence associated with adaptive variation in sockeye salmon are maintained by multiple mechanisms.Molecular ecology · 2024Article
- Genome-wide relaxation of selection and the evolution of the island syndrome in Orkney voles.Genome research · 2024Article
- Investigating the role of genetic variation inEcology and evolution · 2023Article
- Genomic patterns of divergence in the early and late steps of speciation of the deep-sea vent thermophilic worms of the genus Alvinella.BMC ecology and evolution · 2022Article
- Chromosomal Fusions Facilitate Adaptation to Divergent Environments in Threespine Stickleback.Molecular biology and evolution · 2022Article
- Comparative Genomics and Evolution of Avian Specialized Traits.Current genomics · 2021Review
- How natural selection shapes genetic differentiation in the MHC region: A case study with Native Americans.Human immunology · 2021Article
- Biases in Demographic Modeling Affect Our Understanding of Recent Divergence.Molecular biology and evolution · 2021Article
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- The Genomic Landscape of Divergence Across the Speciation Continuum in Island-Colonising Silvereyes (G3 (Bethesda, Md.) · 2020Article
- Genomic Signatures of Local Adaptation in Clam Shrimp (Eulimnadia texana) from Natural Vernal Pools.Genome biology and evolution · 2020Article
- The contribution of ancient admixture to reproductive isolation between European sea bass lineages.Evolution letters · 2020Article
- The Association Between Schizophrenia Risk Variants and Creativity in Healthy Han Chinese Subjects.Frontiers in psychology · 2019Article
- The Effect of Balancing Selection on Population Differentiation: A Study with HLA Genes.G3 (Bethesda, Md.) · 2018Article
- FineMAV: prioritizing candidate genetic variants driving local adaptations in human populations.Genome biology · 2018Article
- A genomic perspective on HLA evolution.Immunogenetics · 2018Review
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- Population differentiation in allele frequencies of obesity-associated SNPs.BMC genomics · 2017Article
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLevels of differentiation among populations depend both on demographic and selective factors: genetic drift and local adaptation increase population differentiation, which is eroded by gene flow and balancing selection. We describe here the genomic distribution and the properties of genomic regions with unusually high and low levels of population differentiation in humans to assess the influence of selective and neutral processes on human genetic structure.
methodsIndividual SNPs of the Human Genome Diversity Panel (HGDP) showing significantly high or low levels of population differentiation were detected under a hierarchical-island model (HIM). A Hidden Markov Model allowed us to detect genomic regions or islands of high or low population differentiation.
resultsUnder the HIM, only 1.5% of all SNPs are significant at the 1% level, but their genomic spatial distribution is significantly non-random. We find evidence that local adaptation shaped high-differentiation islands, as they are enriched for non-synonymous SNPs and overlap with previously identified candidate regions for positive selection. Moreover there is a negative relationship between the size of islands and recombination rate, which is stronger for islands overlapping with genes. Gene ontology analysis supports the role of diet as a major selective pressure in those highly differentiated islands. Low-differentiation islands are also enriched for non-synonymous SNPs, and contain an overly high proportion of genes belonging to the 'Oncogenesis' biological process.
conclusionsEven though selection seems to be acting in shaping islands of high population differentiation, neutral demographic processes might have promoted the appearance of some genomic islands since i) as much as 20% of islands are in non-genic regions ii) these non-genic islands are on average two times shorter than genic islands, suggesting a more rapid erosion by recombination, and iii) most loci are strongly differentiated between Africans and non-Africans, a result consistent with known human demographic history.
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