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- Title
RERE deficiency causes retinal and optic nerve atrophy through degeneration of retinal cells.
- Authors
Kim, Bum Jun; Scott, Daryl A.
- Abstract
Background: The arginine‐glutamic acid dipeptide repeats gene (RERE) encodes a nuclear receptor coregulator that modulates gene expression through its interaction with transcriptional machinery. In humans, RERE deficiency causes neurodevelopmental disorder with or without structural defects of the brain, eye, heart, and kidney (NEDBEH). Ophthalmological defects are seen in approximately one third of individuals with NEDBEH and in RERE‐deficient mice which can serve as a useful animal model. Results: In mice, RERE is expressed in a subset of retinal ganglion cells (RGC), the lens epithelium, and the ciliary body during the embryonic period. RERE expression expands into the outer nuclear layer and the inner nuclear layer during the postnatal period. RERE‐deficient mice have retinal and optic nerve atrophy. We show that RERE deficiency causes progressive loss of retinal cells and apoptosis of retinal cells in the ganglion cell layer as early as E17.5. The number of RGCs is also reduced in RERE‐deficient embryos and mice. Conclusions: We conclude that RERE is required to control the apoptosis of retinal cells in the developing retina, and that RERE deficiency results in the retina atrophy through degeneration of the retinal cells and optic nerve atrophy through the loss of RGCs. Key Findings: Ablation of Rere in mice causes eye defects that are similar to those seen in humans with NEDBEH.RERE is expressed in specific layers/cells of the developing retina, and this pattern changes throughout development.RERE deficiency leads to increased levels of retinal cell apoptosis.RERE deficiency results in the retina and optic nerve atrophy caused by degeneration of the retinal cells.
- Subjects
OPTIC nerve; RETINAL degeneration; CELL death; RETINAL ganglion cells; CILIARY body
- Publication
Developmental Dynamics, 2021, Vol 250, Issue 10, p1398
- ISSN
1058-8388
- Publication type
Article
- DOI
10.1002/dvdy.330