ArticleHuman mutation2011
A worldwide analysis of beta-defensin copy number variation suggests recent selection of a high-expressing DEFB103 gene copy in East Asia.
Article in Human mutation, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed, 75 citations in OpenAlex.
- Likelihood-based optimization enables accurate copy number estimation for paralogous genes using exome data.Bioinformatics (Oxford, England) · 2026Article
- Maternal copy number variations detected by noninvasive prenatal testing in Japanese women.Journal of human genetics · 2026Article
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- Human-specific gene expansions contribute to brain evolution.bioRxiv : the preprint server for biology · 2025Article
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- Copy Number Variation in Asthma: An Integrative Review.Clinical reviews in allergy & immunology · 2025Review
- CONGA: Copy number variation genotyping in ancient genomes and low-coverage sequencing data.PLoS computational biology · 2022Article
- Generation of Marker-FreeGenes · 2020Article
- The Dichotomous Responses Driven by β-Defensins.Frontiers in immunology · 2020Review
- Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes.Science (New York, N.Y.) · 2019Article
- Human Genetic Variation and HIV/AIDS in Papua New Guinea: Time to Connect the Dots.Current HIV/AIDS reports · 2018Review
- Characterization of the β-defensin genes in giant panda.Scientific reports · 2018Article
- A genome-wide characterization of copy number variations in native populations of Peninsular Malaysia.European journal of human genetics : EJHG · 2018Article
- Human beta defensin (HBD) gene copy number affects HBD2 protein levels: impact on cervical bactericidal immunity in pregnancy.European journal of human genetics : EJHG · 2018Article
- β-Defensins: Farming the Microbiome for Homeostasis and Health.Frontiers in immunology · 2018Review
- Population genetics of immune-related multilocus copy number variation in Native Americans.Journal of the Royal Society, Interface · 2017Article
- Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region.Genome research · 2016Article
- Polymorphisms in α-Defensin-Encoding DEFA1A3 Associate with Urinary Tract Infection Risk in Children with Vesicoureteral Reflux.Journal of the American Society of Nephrology : JASN · 2016Article
- SRBreak: A Read-Depth and Split-Read Framework to Identify Breakpoints of Different Events Inside Simple Copy-Number Variable Regions.Frontiers in genetics · 2016Article
- Determining multiallelic complex copy number and sequence variation from high coverage exome sequencing data.BMC genomics · 2015Article
Corrections and comments
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Authors and funding
13 authors at 7 institutions in 5 countries.
Funding
Abstract
Beta-defensins are a family of multifunctional genes with roles in defense against pathogens, reproduction, and pigmentation. In humans, six beta-defensin genes are clustered in a repeated region which is copy-number variable (CNV) as a block, with a diploid copy number between 1 and 12. The role in host defense makes the evolutionary history of this CNV particularly interesting, because morbidity due to infectious disease is likely to have been an important selective force in human evolution, and to have varied between geographical locations. Here, we show CNV of the beta-defensin region in chimpanzees, and identify a beta-defensin block in the human lineage that contains rapidly evolving noncoding regulatory sequences. We also show that variation at one of these rapidly evolving sequences affects expression levels and cytokine responsiveness of DEFB103, a key inhibitor of influenza virus fusion at the cell surface. A worldwide analysis of beta-defensin CNV in 67 populations shows an unusually high frequency of high-DEFB103-expressing copies in East Asia, the geographical origin of historical and modern influenza epidemics, possibly as a result of selection for increased resistance to influenza in this region.
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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.