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A. Ikeda, B. A. Johnson, N. Aoyama, S. Ikeda; Microarray Analysis of Gene Expression Changes During Improvement of Schisis in Rs1tmgc1 Mice. Invest. Ophthalmol. Vis. Sci. 2009;50(13):4140.
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X-linked retinoschisis (XLRS) is an inherited form of macular degeneration that is caused by mutations in the retinoschisis 1 (RS1) gene. A major feature of this disease is splitting (schisis) of the retina. Previously, we reported that schisis phenotype in a mouse model of XLRS, the Rs1tmgc1 mouse, becomes milder as the mice age. The purpose of this study is to identify transcriptional changes that occur during the natural recovery of schisis.
RNA samples extracted from the retina of Rs1tmgc1 mice at 5 weeks and 16 weeks of age were used to generate cRNA probes for hybridization to Affymetrix mouse genome arrays. After pre-analysis processing of the data, a t-test was performed to identify differentially expressed genes. We used the DAVID Functional Annotation Tool to identify enriched gene ontology terms.
We found that 103 genes were significantly up-regulated, and 258 genes were significantly down-regulated at 5 weeks old relative to 16 weeks old (>2 fold change). Among differentially expressed genes, the following are of particularly interest. (1) Expression of the collagen type IV alpha3, which may be associated with cell adhesion, is up-regulated at 16 weeks (average fold change 4.65). (2) One of the down-regulated genes is in the minimal genetic region of the Modifier of Rs1 (Mor1) gene, the AKR allele of which rescues the schisis phenotype of Rs1tmgc1 mice.
This study demonstrated that gene expression profile changes occur during improvement of schisis in the retina of Rs1tmgc1 mice. Some of these up- or down-regulated genes may be associated with the function of Rs1. The gene mapped within the Mor1 locus is a good candidate for the Mor1 gene.
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