ArticlePLoS genetics2018
Genetic compensation triggered by actin mutation prevents the muscle damage caused by loss of actin protein.
Article in PLoS genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 64 citations in OpenAlex.
- Early pre-symptomatic and sex-specific cardiac remodeling precedes heart failure in zebrafish with a human actin variant.Disease models & mechanisms · 2026Article
- Toxicity of the Covalent Organic Framework Material TpPa to Zebrafish.Animals : an open access journal from MDPI · 2026Article
- Homoeolog expression in polyploid wheat mutants shows limited transcriptional compensation.The New phytologist · 2026Article
- Genomic Basis and Climate Change Vulnerability of Migration Timing in Atlantic Salmon (Evolutionary applications · 2025Article
- Current status and challenges of multi-omics research using animal models of atherosclerosis.Journal of molecular and cellular cardiology plus · 2025Review
- Transcriptional adaptation after deletion of Cdc42 in primary T cells.Journal of cell science · 2025Article
- Loss ofJBMR plus · 2025Article
- Loss ofbioRxiv : the preprint server for biology · 2024Article
- CRIMP: a CRISPR/Cas9 insertional mutagenesis protocol and toolkit.Nature communications · 2024Article
- Mechanistic toxicology in light of genetic compensation.Toxicological sciences : an official journal of the Society of Toxicology · 2024Article
- Case report: A novelFrontiers in neurology · 2024Article
- The zebrafish paralog six2b is required for early proximal pronephros morphogenesis.Scientific reports · 2023Article
- Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations.Human molecular genetics · 2023Article
- A defective mechanosensing pathway affects fibroblast-to-myofibroblast transition in the old male mouse heart.iScience · 2023Article
- Article
- NRAP reduction rescues sarcomere defects in nebulin-related nemaline myopathy.Human molecular genetics · 2023Article
- The recent advances and future perspectives of genetic compensation studies in the zebrafish model.Genes & diseases · 2023Review
- The centriolar satellite protein Cfap53 facilitates formation of the zygotic microtubule organizing center in the zebrafish embryo.Development (Cambridge, England) · 2022Article
- Beyond Mendelian Inheritance: Genetic Buffering and Phenotype Variability.Phenomics (Cham, Switzerland) · 2022Review
- Pipeline for generating stable large genomic deletions in zebrafish, from small domains to whole gene excisions.G3 (Bethesda, Md.) · 2021Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The lack of a mutant phenotype in homozygous mutant individuals' due to compensatory gene expression triggered upstream of protein function has been identified as genetic compensation. Whilst this intriguing process has been recognized in zebrafish, the presence of homozygous loss of function mutations in healthy human individuals suggests that compensation may not be restricted to this model. Loss of skeletal α-actin results in nemaline myopathy and we have previously shown that the pathological symptoms of the disease and reduction in muscle performance are recapitulated in a zebrafish antisense morpholino knockdown model. Here we reveal that a genetic actc1b mutant exhibits mild muscle defects and is unaffected by injection of the actc1b targeting morpholino. We further show that the milder phenotype results from a compensatory transcriptional upregulation of an actin paralogue providing a novel approach to be explored for the treatment of actin myopathy. Our findings provide further evidence that genetic compensation may influence the penetrance of disease-causing mutations.
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