ArticleThe Journal of biological chemistry2010
SOX9, through interaction with microphthalmia-associated transcription factor (MITF) and OTX2, regulates BEST1 expression in the retinal pigment epithelium.
Article in The Journal of biological chemistry, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 48 citations in OpenAlex.
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- The Effects of the Coating and Aging of Biodegradable Polylactic Acid Membranes on In Vitro Primary Human Retinal Pigment Epithelium Cells.Biomedicines · 2024Article
- Benefits and Caveats in the Use of Retinal Pigment Epithelium-Specific Cre Mice.International journal of molecular sciences · 2024Review
- A simple, rapid fluorescent reporter-based method for detection of ectopic cre recombinase expression in presumed retinal cell type-targeted mouse lines.Experimental eye research · 2023Article
- SWI/SNF complexes are required for retinal pigmented epithelium differentiation and for the inhibition of cell proliferation and neural differentiation programs.Development (Cambridge, England) · 2023Article
- SIRT6 overexpression in the nucleus protects mouse retinal pigment epithelium from oxidative stress.Life science alliance · 2023Article
- The LHX2-OTX2 transcriptional regulatory module controls retinal pigmented epithelium differentiation and underlies genetic risk for age-related macular degeneration.PLoS biology · 2023Article
- Inducing human retinal pigment epithelium-like cells from somatic tissue.Stem cell reports · 2022Article
- Transcriptome Landscape of Epithelial to Mesenchymal Transition of Human Stem Cell-Derived RPE.Investigative ophthalmology & visual science · 2021Article
- An efficient inducible RPE-Selective cre transgenic mouse line.Experimental eye research · 2021Article
- Disease-causing mutations associated with bestrophinopathies promote apoptosis in retinal pigment epithelium cells.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2020Article
- Transcriptional Regulation ofFrontiers in endocrinology · 2020Article
- Article
- MITF and UV responses in skin: From pigmentation to addiction.Pigment cell & melanoma research · 2019Review
- Disruption of mesoderm formation during cardiac differentiation due to developmental exposure to 13-cis-retinoic acid.Scientific reports · 2018Article
- Otx2-Genetically Modified Retinal Pigment Epithelial Cells Rescue Photoreceptors after Transplantation.Molecular therapy : the journal of the American Society of Gene Therapy · 2018Article
- Setting Eyes on the Retinal Pigment Epithelium.Frontiers in cell and developmental biology · 2018Review
- Article
- Appropriately differentiated ARPE-19 cells regain phenotype and gene expression profiles similar to those of native RPE cells.Molecular vision · 2017Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
BEST1 is highly and preferentially expressed in the retinal pigment epithelium (RPE) and causes Best macular dystrophy when mutated. We previously demonstrated that the human BEST1 upstream region -154 to +38 bp is sufficient to direct expression in the RPE of transgenic mice, and microphthalmia-associated transcription factor (MITF) and OTX2 regulate this BEST1 promoter. However, a number of questions remained. Here, we show that yeast one-hybrid screen with bait corresponding to BEST1 -120 to -88 bp identified the SOX-E factors, SOX8, SOX9, and SOX10. A paired SOX site was found in this bait, and mutation of either of the paired sites significantly decreased BEST1 promoter activity in RPE primary cultures. Among the SOX-E genes, SOX9 is highly and preferentially expressed in the RPE, and chromatin immunoprecipitation with fresh RPE cells revealed binding of SOX9, but not SOX10, to the BEST1 region where the paired SOX site is located. BEST1 promoter activity was increased by SOX9 overexpression and decreased by siRNA-mediated SOX9 knockdown. Importantly, SOX9 physically interacted with MITF and OTX2 and orchestrated synergistic activation of the BEST1 promoter with the paired SOX site playing essential roles. A combination of the expression patterns of SOX9, MITF, and OTX2 yielded tissue distribution remarkably similar to that of BEST1. Lastly, the BEST1 promoter was also active in Sertoli cells of the testis in transgenic mice where SOX9 is highly expressed. These results define SOX9 as a key regulator of BEST1 expression and demonstrate for the first time its functional role in the RPE.
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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.