RNA Splicing Factor Retinitis Pigmentosa/Transcriptome Analyses

To study impacts of RNA splicing on the Retinitis Pigmentosa(RP) , we have developed knock-out mouse model of PRPF31. Total RNA was extracted from retinal pigment epithelium (RPE), retina, brain, muscle and kidneys of 5 Prpf31+/- and 4 wild-type littermate male mice (C57BL/6J genetic background). Samples were multiplexed across five different flow cells and were consecutively sequenced. RNA-sequencing (RNA-Seq) of paired-end (PE) reads for 101 cycles was carried out on Illumina's HiSeq 2500 Sequencer at the Ocular Genomic Institute (OGI), Boston, MA (USA). A suite of synthetic RNA isoforms, termed "sequins" representing full-length spliced mRNA isoforms, were also added for controls.