Intra- and interspecies comparison of EYS transcripts highlights its characteristics in the eye

Inherited mutations in the eyes shut homolog (EYS) gene cause retinitis pigmentosa. Although knock out of eys in zebrafish is pathogenic, the molecular function of EYS in vertebrate photoreceptors is poorly understood. Here, we show that the 5′ portion of EYS is eye-specific across vertebrates. We previously determined that a 3′ fragment of EYS with an unknown transcription start site is expressed in human dermal fibroblasts (HDF). To obtain insights into the molecular function of EYS in vertebrate photoreceptors, we extensively analyzed EYS (eys) expression in the human fibroblast cell line HDF-adult (HDF-a), the Y79 retinoblastoma cell line, and in zebrafish eyes using rapid amplification of cDNA end, cap analysis of gene expression, RNA sequencing, and RT-PCR. In HDF-a cells, we identified a novel transcript variant (tv), tv5, transcribed from exon 37. In Y79 cells and zebrafish eyes, EYS (eys) was predominantly transcribed from exon 1 or 2, whereas it was transcribed exclusively from exon 37 in HDF-a ...