ArticleMolecular biology and evolution2013
Evolutionary dynamics of the human NADPH oxidase genes CYBB, CYBA, NCF2, and NCF4: functional implications.
Article in Molecular biology and evolution, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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19 citing papers in PubMed, 34 citations in OpenAlex.
- Exploring Immune-Related Ferroptosis Genes in Thyroid Cancer: A Comprehensive Analysis.Biomedicines · 2025Article
- Genetic background of behavior traits in lactating sows under heat-stress conditions and their relationship with heat tolerance and maternal performance traits.Frontiers in genetics · 2025Article
- Diagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic Era.Journal of clinical medicine · 2024Review
- Unveiling the Influence of Copy Number Variations on Genetic Diversity and Adaptive Evolution in China's Native Pig Breeds via Whole-Genome Resequencing.International journal of molecular sciences · 2024Article
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- Identification of a diagnostic model and molecular subtypes of major depressive disorder based on endoplasmic reticulum stress-related genes.Frontiers in psychiatry · 2023Article
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- Comprehensive analysis of endoplasmic reticulum stress and immune infiltration in major depressive disorder.Frontiers in psychiatry · 2022Article
- Recent advances in lentiviral vectors for gene therapy.Science China. Life sciences · 2021Review
- Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses.Genome medicine · 2021Article
- NCF1/2/4 Are Prognostic Biomarkers Related to the Immune Infiltration of Kidney Renal Clear Cell Carcinoma.BioMed research international · 2021Article
- NADPH Oxidase Inhibition in Fibrotic Pathologies.Antioxidants & redox signaling · 2020Article
- Perianal Disease and Granulomas: Think Out of the Box….GE Portuguese journal of gastroenterology · 2020Article
- Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients With Crohn's Disease.Gastroenterology · 2018Article
- The three CYBA variants (rs4673, rs1049254 and rs1049255) are benign: new evidence from a patient with CGD.BMC medical genetics · 2017Article
- Selective Landscapes in newt Immune Genes Inferred from Patterns of Nucleotide Variation.Genome biology and evolution · 2016Article
- Heterozygote Advantage of the rs3794624 Polymorphism in CYBA for Resistance to Tuberculosis in Two Chinese Populations.Scientific reports · 2016Article
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Authors and funding
14 authors at 6 institutions in 4 countries.
Funding
Abstract
The phagocyte NADPH oxidase catalyzes the reduction of O2 to reactive oxygen species with microbicidal activity. It is composed of two membrane-spanning subunits, gp91-phox and p22-phox (encoded by CYBB and CYBA, respectively), and three cytoplasmic subunits, p40-phox, p47-phox, and p67-phox (encoded by NCF4, NCF1, and NCF2, respectively). Mutations in any of these genes can result in chronic granulomatous disease, a primary immunodeficiency characterized by recurrent infections. Using evolutionary mapping, we determined that episodes of adaptive natural selection have shaped the extracellular portion of gp91-phox during the evolution of mammals, which suggests that this region may have a function in host-pathogen interactions. On the basis of a resequencing analysis of approximately 35 kb of CYBB, CYBA, NCF2, and NCF4 in 102 ethnically diverse individuals (24 of African ancestry, 31 of European ancestry, 24 of Asian/Oceanians, and 23 US Hispanics), we show that the pattern of CYBA diversity is compatible with balancing natural selection, perhaps mediated by catalase-positive pathogens. NCF2 in Asian populations shows a pattern of diversity characterized by a differentiated haplotype structure. Our study provides insight into the role of pathogen-driven natural selection in an innate immune pathway and sheds light on the role of CYBA in endothelial, nonphagocytic NADPH oxidases, which are relevant in the pathogenesis of cardiovascular and other complex diseases.
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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.