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Active DNA demethylation is upstream of rod photoreceptor fate determination and required for retinal development [Human RNA-Seq]

GSE288097 Homo sapiens Expression profiling by high throughput sequencing 5 samples Submitted 2025/03/01 Platform GPL20301
Summary
The goal of this study is to investigate the role of TET enzyme-mediated DNA demethylation on retinal development and cell fate specification. We utilized an allelic series of TET enzyme retinal conditional mouse mutants using the Chx10-Cre-GFP transgene, removing the TET enzymes from retinal progenitor cells. We observe that inhibition of DNA demethylation results in abnormal retinal development and a loss of visual function. As human retinoblastoma displays reduced TET3 protein expression and a reduction in 5hmC similar to our TET mutant models, we compare the RNA expression changes across human retinoblastoma and TET mutant retinas to identify common pathways that are altered when 5hmC is lost.
Published in
Active DNA demethylation is upstream of rod-photoreceptor fate determination and required for retinal development
Hernández-Núñez I, Urman A, Zhang X et al. · bioRxiv : the preprint server for biology 2025 · PMID 39975078 · doi:10.1101/2025.02.03.636318
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Also filed as BioProject PRJNA1216190 and SRA study SRP560202. Searching any of these in the dataset finder brings you back here.

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