ArticleHuman molecular genetics2016
Candidate genetic modifiers of retinitis pigmentosa identified by exploiting natural variation in Drosophila.
Article in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 1 of them a synthesis that pooled it.
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Who cites it
61 citing papers in PubMed, 1 synthesis or guideline pooled it, 97 citations in OpenAlex.
- Efficacy and safety of mesenchymal stem cell therapies in retinitis pigmentosa: a systematic review and meta-analysis.International ophthalmology · 2025Pooled it
- A drug repurposing screen reveals dopamine signaling as a candidate therapeutic pathway for PIGA-CDG.PLoS genetics · 2026Article
- A recombinantbioRxiv : the preprint server for biology · 2026Article
- A drug repurposing screen reveals dopamine signaling as a candidate therapeutic pathway for PIGA-CDG.bioRxiv : the preprint server for biology · 2026Article
- Genetic basis of maneb-induced dopaminergic neurodegeneration in Drosophila.G3 (Bethesda, Md.) · 2025Article
- Natural SEL1L variants rescue a model of NGLY1 deficiency and modify ERAD function and proteasome sensitivity.PLoS genetics · 2025Article
- Identification of CNTN2 as a genetic modifier of PIGA-CDG in a family with incomplete penetrance and in Drosophila.American journal of human genetics · 2025Article
- Sensory quiescence induces a cell-non-autonomous integrated stress response curbed by condensate formation of the ATF4 and XRP1 effectors.Nature communications · 2025Article
- Progressive mitochondrial dysfunction impairs visual signal transduction and induces retinal degeneration inFrontiers in insect science · 2025Article
- A drug repurposing screen reveals dopamine signaling as a critical pathway underlying potential therapeutics for the rare disease DPAGT1-CDG.PLoS genetics · 2024Article
- Evolutionary rate covariation is pervasive between glycosylation pathways and points to potential disease modifiers.PLoS genetics · 2024Article
- The ZnDevelopmental cell · 2024Article
- Preclinical dose response study shows NR2E3 can attenuate retinal degeneration in the retinitis pigmentosa mouse model RhoGene therapy · 2024Article
- A Drosophila screen identifies a role for histone methylation in ER stress preconditioning.G3 (Bethesda, Md.) · 2024Article
- Phylogenomics of the Ecdysteroid Kinase-like (EcKL) Gene Family in Insects Highlights Roles in Both Steroid Hormone Metabolism and Detoxification.Genome biology and evolution · 2024Article
- Larval density can be used to predict genetic modifiers of glucagon signaling in Drosophila melanogaster.PloS one · 2024Article
- Species-wide survey of the expressivity and complexity spectrum of traits in yeast.PLoS genetics · 2024Article
- An Unusual Presentation of Novel Missense Variant inCurrent issues in molecular biology · 2023Article
- Visual impairment cell non-autonomously dysregulates brain-wide proteostasis.bioRxiv : the preprint server for biology · 2023Article
- Using Drosophila to identify naturally occurring genetic modifiers of amyloid beta 42- and tau-induced toxicity.G3 (Bethesda, Md.) · 2023Article
1 more citing papers are in PubMed but not listed here.
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Individuals carrying the same pathogenic mutation can present with a broad range of disease outcomes. While some of this variation arises from environmental factors, it is increasingly recognized that the background genetic variation of each individual can have a profound effect on the expressivity of a pathogenic mutation. In order to understand this background effect on disease-causing mutations, studies need to be performed across a wide range of backgrounds. Recent advancements in model organism biology allow us to test mutations across genetically diverse backgrounds and identify the genes that influence the expressivity of a mutation. In this study, we used the Drosophila Genetic Reference Panel, a collection of ∼200 wild-derived strains, to test the variability of the retinal phenotype of the Rh1(G69D) Drosophila model of retinitis pigmentosa (RP). We found that the Rh1(G69D) retinal phenotype is quite a variable quantitative phenotype. To identify the genes driving this extensive phenotypic variation, we performed a genome-wide association study. We identified 106 candidate genes, including 14 high-priority candidates. Functional testing by RNAi indicates that 10/13 top candidates tested influence the expressivity of Rh1(G69D). The human orthologs of the candidate genes have not previously been implicated as RP modifiers and their functions are diverse, including roles in endoplasmic reticulum stress, apoptosis and retinal degeneration and development. This study demonstrates the utility of studying a pathogenic mutation across a wide range of genetic backgrounds. These candidate modifiers provide new avenues of inquiry that may reveal new RP disease mechanisms and therapies.
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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.