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• W2788486777 abstract "CHD7, an ATP-dependent chromatin remodeler, is disrupted in CHARGE syndrome, an autosomal dominant disorder characterized by variably penetrant abnormalities in craniofacial, cardiac, and nervous system tissues. The inner ear is uniquely sensitive to CHD7 levels and is the most commonly affected organ in individuals with CHARGE. Interestingly, upregulation or downregulation of retinoic acid (RA) signaling during embryogenesis also leads to developmental defects similar to those in CHARGE syndrome, suggesting that CHD7 and RA may have common target genes or signaling pathways. Here, we tested three separate potential mechanisms for CHD7 and RA interaction: (a) direct binding of CHD7 with RA receptors, (b) regulation of CHD7 levels by RA, and (c) CHD7 binding and regulation of RA-related genes. We show that CHD7 directly regulates expression of Aldh1a3, the gene encoding the RA synthetic enzyme ALDH1A3 and that loss of Aldh1a3 partially rescues Chd7 mutant mouse inner ear defects. Together, these studies indicate that ALDH1A3 acts with CHD7 in a common genetic pathway to regulate inner ear development, providing insights into how CHD7 and RA regulate gene expression and morphogenesis in the developing embryo." @default.
• W2788486777 created "2018-03-06" @default.
• W2788486777 creator A5001201586 @default.
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• W2788486777 date "2018-02-22" @default.
• W2788486777 modified "2023-10-18" @default.
• W2788486777 title "CHD7 represses the retinoic acid synthesis enzyme ALDH1A3 during inner ear development" @default.
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• W2788486777 doi "https://doi.org/10.1172/jci.insight.97440" @default.
• W2788486777 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5916250" @default.
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• W2788486777 hasPublicationYear "2018" @default.
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