Genetic Rescue of X-Linked Retinoschisis Mouse (Rs1^-/y) Retina Induces Quiescence of the Retinal Microglial Inflammatory State Following AAV8-RS1 Gene Transfer and Identifies Gene Networks Underlying Retinal Recovery.

ABSTRACT: To understand RS1 gene interaction networks in the X-linked retinoschisis (XLRS) mouse retina (Rs1^-/y), we analyzed the transcriptome by RNA sequencing before and after in vivo expression of exogenous retinoschisin (RS1) gene delivered by AAV8. RS1 is a secreted cell adhesion protein that is critical for maintaining structural lamination and synaptic integrity of the neural retina. RS1 loss-of-function mutations cause XLRS disease in young boys and men, with splitting ("schisis") of retinal layers and synaptic dysfunction that cause progressive vision loss with age. Analysis of differential gene expression profiles and pathway enrichment analysis of Rs1-KO (Rs1^-/y) retina identified cell surface receptor signaling and p

SUBMITTER: Vijayasarathy C 

PROVIDER: S-EPMC8312029 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature