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

FASEB J

Visual Functions Section, Department of Rehabilitation for Sensory Functions, Research Institute, National Rehabilitation Center for Persons with Disabilities, Tokorozawa, Japan.

Published: August 2019

Inherited mutations in the eyes shut homolog () gene cause retinitis pigmentosa. Although knock out of in zebrafish is pathogenic, the molecular function of in vertebrate photoreceptors is poorly understood. Here, we show that the 5' portion of is eye-specific across vertebrates. We previously determined that a 3' fragment of with an unknown transcription start site is expressed in human dermal fibroblasts (HDF). To obtain insights into the molecular function of in vertebrate photoreceptors, we extensively analyzed () 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, () was predominantly transcribed from exon 1 or 2, whereas it was transcribed exclusively from exon 37 in HDF-a cells. In the zebrafish eye, there were splice variants that introduced stop codons, resulting in complete loss of the 3' portion of the RNA. These comparative approaches indicate that the 5' portion of the () mRNA appears to be photoreceptor-specific and that the compositions of the deduced EYS proteins in the eye are well-conserved across vertebrates.-Takita, S., Miyamoto-Matsui, K., Seko, Y. Intra- and interspecies comparison of transcripts highlights its characteristics in the eye.

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Source
http://dx.doi.org/10.1096/fj.201900056RRDOI Listing

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