Polyglutamine-expanded ATXN7 alters a specific epigenetic signature underlying photoreceptor identity gene expression in SCA7 mouse retinopathy.
Anna Niewiadomska-CimickaAntoine HacheStéphanie Le GrasCéline KeimeTao YeAurelie EisenmannImen HarichaneMichel J RouxNadia MessaddeqEmmanuelle ClérinThierry LéveillardYvon TrottierPublished in: Journal of biomedical science (2022)
Our study thus provides evidence that distinctive epigenetic configurations underlying high expression of cell-type specific genes are preferentially impaired in SCA7, resulting in a defect in the maintenance of identity features of mature photoreceptors. Our results also suggest that continuous SAGA-driven acetylation plays a role in preserving post-mitotic neuronal identity.