ArticleBMC evolutionary biology2008
Directional and balancing selection in human beta-defensins.
Article in BMC evolutionary biology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 68 citations in OpenAlex.
- Predictors of Protein Evolution in the drosophilid Immune System.Genome biology and evolution · 2026Article
- Natural selection and adaptive traits in the Maniq, a nomadic hunter-gatherer society from Mainland Southeast Asia.Scientific reports · 2025Article
- A single amino acid polymorphism in natural Metchnikowin alleles of Drosophila results in systemic immunity and life history tradeoffs.PLoS genetics · 2024Article
- Balancing selection on the complement system of a wild rodent.BMC ecology and evolution · 2023Article
- Evolutionary history of type II transmembrane serine proteases involved in viral priming.Human genetics · 2022Article
- Article
- Evolving and assembling to pierce through: Evolutionary and structural aspects of antimicrobial peptides.Computational and structural biotechnology journal · 2022Review
- Sex-specific phenotypic effects and evolutionary history of an ancient polymorphic deletion of the human growth hormone receptor.Science advances · 2021Article
- An Evolutionary Perspective on the Impact of Genomic Copy Number Variation on Human Health.Journal of molecular evolution · 2020Review
- Unusual interplay of contrasting selective pressures on β-defensin genes implicated in male fertility of the Buffalo (Bubalus bubalis).BMC evolutionary biology · 2019Article
- Balancing Selection Drives the Maintenance of Genetic Variation in Drosophila Antimicrobial Peptides.Genome biology and evolution · 2019Article
- Fine-Scale Characterization of Genomic Structural Variation in the Human Genome Reveals Adaptive and Biomedically Relevant Hotspots.Genome biology and evolution · 2019Article
- Understanding rare and common diseases in the context of human evolution.Genome biology · 2016Review
- Immune genes and divergent antimicrobial peptides in flies of the subgenus Drosophila.BMC evolutionary biology · 2016Article
- Perspectives on the evolutionary ecology of arthropod antimicrobial peptides.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2016Review
- The potential for adaptive maintenance of diversity in insect antimicrobial peptides.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2016Review
- Detecting Genomic Signatures of Natural Selection with Principal Component Analysis: Application to the 1000 Genomes Data.Molecular biology and evolution · 2016Article
- Convergent Balancing Selection on an Antimicrobial Peptide in Drosophila.Current biology : CB · 2016Article
- Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes.American journal of human genetics · 2016Article
- Trans-Species Polymorphism in Immune Genes: General Pattern or MHC-Restricted Phenomenon?Journal of immunology research · 2015Review
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundIn primates, infection is an important force driving gene evolution, and this is reflected in the importance of infectious disease in human morbidity today. The beta-defensins are key components of the innate immune system, with antimicrobial and cell signalling roles, but also reproductive functions. Here we examine evolution of beta-defensins in catarrhine primates and variation within different human populations.
resultsWe show that five beta-defensin genes that do not show copy number variation in humans show evidence of positive selection in catarrhine primates, and identify specific codons that have been under selective pressure. Direct haplotyping of DEFB127 in humans suggests long-term balancing selection: there are two highly diverged haplotype clades carrying different variants of a codon that, in primates, is positively selected. For DEFB132, we show that extensive diversity, including a four-state amino acid polymorphism (valine, isoleucine, alanine and threonine at position 93), is present in hunter-gatherer populations, both African and non-African, but not found in samples from agricultural populations.
conclusionSome, but not all, beta-defensin genes show positive selection in catarrhine primates. There is suggestive evidence of different selective pressures on these genes in humans, but the nature of the selective pressure remains unclear and is likely to differ between populations.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.