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• W2156099054 abstract "Mutations in the cone-rod-homeobox protein CRX are typically associated with dominant blinding retinopathies with variable age of onset and severity. Five well-characterized mouse models carrying different Crx mutations show a wide range of disease phenotypes. To determine if the phenotype variability correlates with distinct changes in CRX target gene expression, we perform RNA-seq analyses on three of these models and compare the results with published data.Despite dramatic phenotypic differences between the three models tested, graded expression changes in shared sets of genes are detected. Phenotype severity correlates with the down-regulation of genes encoding key rod and cone phototransduction proteins. Interestingly, in increasingly severe mouse models, the transcription of many rod-enriched genes decreases decrementally, whereas that of cone-enriched genes increases incrementally. Unlike down-regulated genes, which show a high degree of CRX binding and dynamic epigenetic profiles in normal retinas, the up-regulated cone-enriched genes do not correlate with direct activity of CRX, but instead likely reflect a change in rod cell-fate integrity. Furthermore, these analyses describe the impact of minor gene expression changes on the phenotype, as two mutants showed marginally distinguishable expression patterns but huge phenotypic differences, including distinct mechanisms of retinal degeneration.Our results implicate a threshold effect of gene expression level on photoreceptor function and survival, highlight the importance of CRX in photoreceptor subtype development and maintenance, and provide a molecular basis for phenotype variability in CRX-associated retinopathies." @default.
• W2156099054 created "2016-06-24" @default.
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• W2156099054 date "2015-09-01" @default.
• W2156099054 modified "2023-10-02" @default.
• W2156099054 title "Graded gene expression changes determine phenotype severity in mouse models of CRX-associated retinopathies" @default.
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• W2156099054 doi "https://doi.org/10.1186/s13059-015-0732-z" @default.
• W2156099054 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4556057" @default.
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• W2156099054 hasPublicationYear "2015" @default.
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