Expression of Photoreceptor-Specific Nuclear Receptor NR2E3 in Rod Photoreceptors of Fetal Human Retina

• Published in: Investigative ophthalmology & visual science Vol. 45; no. 8; pp. 2807 - 2812
• Main Authors: O'Brien, Keely M. Bumsted, Cheng, Hong, Jiang, Yibin, Schulte, Dorothea, Swaroop, Anand, Hendrickson, Anita E
• Format: Journal Article
• Language: English
• Published: Rockville, MD ARVO 01.08.2004; Association for Research in Vision and Ophtalmology
• Subjects: Basic-Leucine Zipper Transcription Factors; Biological and medical sciences; DNA-Binding Proteins - genetics; DNA-Binding Proteins - metabolism; Epistemology; Excavation and methods; Eye and associated structures. Visual pathways and centers. Vision; Eye Proteins - genetics; Eye Proteins - metabolism; Field method; Fluorescent Antibody Technique, Indirect; Fundamental and applied biological sciences. Psychology; Gene Expression Regulation, Developmental - physiology; Humans; In Situ Hybridization; Methodology and general studies; Microscopy, Confocal; Orphan Nuclear Receptors; Photoreceptor Cells, Vertebrate - metabolism; Prehistory and protohistory; Receptors, Cytoplasmic and Nuclear - genetics; Receptors, Cytoplasmic and Nuclear - metabolism; Retina - embryology; Reverse Transcriptase Polymerase Chain Reaction; Transcription Factors; Vertebrates: nervous system and sense organs; Human; Polymerase chain reaction; Nuclear receptor; Transcription; Analysis; Rod; Photoreceptor; Retina; Functions; Method; Ophthalmology
• ISSN: 0146-0404; 1552-5783; 1552-5783
• DOI: 10.1167/iovs.03-1317

To study the physiological function of NR2E3 and possible molecular mechanisms underlying enhanced short-wavelength cone syndrome (ESCS) pathogenesis in developing human retina, and to compare its expression to that of Neural Retina Leucine zipper (NRL), a transcription factor essential for rod differentiation. Expression of NR2E3, a photoreceptor-specific orphan nuclear receptor, was examined in human retinas between fetal weeks (Fwk) 9 to 22 by reverse transcription-polymerase chain reaction (RT-PCR) and in situ hybridization. Both NR2E3 and NRL expression patterns were followed by immunocytochemistry. The human retina develops in a central to peripheral pattern, in which a protein may take weeks to be expressed throughout the entire retina. This allowed a detailed temporal analysis of NR2E3 and NRL expression. NR2E3 expression was detected shortly after the appearance of NRL in putative immature rods on the foveal edge at Fwk 11.7. Expression of both markers was maintained in rod opsin expressing fetal photoreceptors. NR2E3 expression was not detected in either long/medium- or short-wavelength cones. Its absence from cones was also supported by the position of labeled nuclei deep in the outer nuclear layer, and by the absence of NR2E3 from the fovea. A role for NR2E3 in the rod developmental pathway is suggested. The closely related expression patterns of NRL and NR2E3 supported an interactive function, where both transcription factors determine the rod fate and suppress immature rods from adopting the S-cone fate.