ArticlePloS one2010
Relating mutant genotype to phenotype via quantitative behavior of the NADPH redox cycle in human erythrocytes.
Article in PloS one, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed.
- Glucose-6-Phosphate Dehydrogenase Deficiency and Neonatal Hyperbilirubinemia: Insights on Pathophysiology, Diagnosis, and Gene Variants in Disease Heterogeneity.Frontiers in pediatrics · 2022Review
- Mapping the phenotypic repertoire of the cytoplasmic 2-Cys peroxiredoxin - Thioredoxin system. 1. Understanding commonalities and differences among cell types.Redox biology · 2018Article
- Coupling between Protein Stability and Catalytic Activity Determines Pathogenicity of G6PD Variants.Cell reports · 2017Article
- Strategy revealing phenotypic differences among synthetic oscillator designs.ACS synthetic biology · 2014Article
- Design of the lac gene circuit revisited.Mathematical biosciences · 2011Review
- Biomedical engineering strategies in system design space.Annals of biomedical engineering · 2011Review
- Predicting the Kinetic Properties Associated with Redox Imbalance after Oxidative Crisis in G6PD-Deficient Erythrocytes: A Simulation Study.Advances in hematology · 2011Article
- Elucidating the genotype-phenotype map by automatic enumeration and analysis of the phenotypic repertoire.NPJ systems biology and applicationsArticle
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
backgroundThe NADPH redox cycle plays a key role in antioxidant protection of human erythrocytes. It consists of two enzymes: glucose-6-phosphate dehydrogenase (G6PD) and glutathione reductase. Over 160 G6PD variants have been characterized and associated with several distinct clinical manifestations. However, the mechanistic link between the genotype and the phenotype remains poorly understood. METHODOLOGY/PRINCIPAL
findingsWe address this issue through a novel framework (design space) that integrates information at the genetic, biochemical and clinical levels. Our analysis predicts three qualitatively-distinct phenotypic regions that can be ranked according to fitness. When G6PD variants are analyzed in design space, a correlation is revealed between the phenotypic region and the clinical manifestation: the best region with normal physiology, the second best region with a pathology, and the worst region with a potential lethality. We also show that Plasmodium falciparum, by induction of its own G6PD gene in G6PD-deficient erythrocytes, moves the operation of the cycle to a region of the design space that yields robust performance. CONCLUSIONS/SIGNIFICANCE: In conclusion, the design space for the NADPH redox cycle, which includes relationships among genotype, phenotype and environment, illuminates the function, design and fitness of the cycle, and its phenotypic regions correlate with the organism's clinical status.
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