Autosomal dominant retinitis pigmentosa rhodopsin mutation Q344X drives specific alterations in gene transcription. Mus musculus

The goal of the study was to identify transcriptional modifications in retinal tissues from mouse model of rhodopsin mutation-associated retinitis pigmentosa (RP), Q344X compared to wild-type (WT). We implemented RNA-sequencing (RNA-seq) at poly(A) selected RNA for transcriptomic profiling. Differentially expressed genes were determined by DESeq2 using the Benjamini & Hochberg p-value adjustment and an absolute log2 fold change cutoff. The results indicate that there is specificity in transcriptional patterns in the retina from Q344x mice relative to WT, including differential expression in the potassium channel gene, Kcnv2, and differential expression in histone genes including the H1 family histone member, H1foo, the H3 histone family 3B, H3f3b, and the histone deacetylase 9, Hdac9. Overall design: Retinal tissue was extracted from 3 week-old Q344X and WT mice and placed in stabilization reagent. The initial design included 3 replicates from each group but due to low quality RNA and outlier detection, the final animal count for statistical analysis is n=2 for Q344x and n=2 for WT. RNA-seq was performed at poly-A selected RNA.