RNA-seq analysis of wild-type and AGBL5 mutant ARPE19 cell lines

AGBL5 is a 3kb transcript gene encoding a 97.5 kDa protein. AGBL5 is a candidate gene for retinal degeneration, and the protein is expressed in human retina. Mutations have been reported to be associated with Retinitis Pigmentosa, the most common type of recessively inherited retinal dystrophies, characterised by early-onset of loss of peripheral vision and night blindness. Nevertheless, disease mechanisms associated with AGBL5 variants require further investigations. This project aimed to improve understanding of AGBL5 function in retinal cells, and to identify transcriptomic changes in AGBL5 mutant cell lines compared to wild-type cells using RNA sequencing data and differential gene expression analysis approaches, which may identify targets for therapy.