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Published online 3 April 2006. doi:10.1083/jcb.200509036
The Rockefeller University Press, 0021-9525 $8.00
JCB, Volume 173, Number 1, 59-68
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Article

 Retention of function without normal disc morphogenesis occurs in cone but not rod photoreceptors

Rafal Farjo1, Jeff S. Skaggs1, Barbara A. Nagel2,3, Alexander B. Quiambao1, Zack A. Nash1, Steven J. Fliesler2,3, and Muna I. Naash1

1 Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104
2 Department of Ophthalmology and 3 Department of Pharmacological and Physiological Science, Saint Louis University School of Medicine, St. Louis, MO 63104

Correspondence to Muna I. Naash: muna-naash{at}ouhsc.edu

It is commonly assumed that photoreceptor (PR) outer segment (OS) morphogenesis is reliant upon the presence of peripherin/rds, hereafter termed Rds. In this study, we demonstrate a differential requirement of Rds during rod and cone OS morphogenesis. In the absence of this PR-specific protein, rods do not form OSs and enter apoptosis, whereas cone PRs develop atypical OSs and are viable. Such OSs consist of dysmorphic membranous structures devoid of lamellae. These tubular OSs lack any stacked lamellae and have reduced phototransduction efficiency. The loss of Rds only appears to affect the shape of the OS, as the inner segment and connecting cilium remain intact. Furthermore, these structures fail to associate with the specialized extracellular matrix that surrounds cones, suggesting that Rds itself or normal OS formation is required for this interaction. This study provides novel insight into the distinct role of Rds in the OS development of rods and cones.

Abbreviations used in this paper: CMS, cone matrix sheath; ERG, electroretinography; IS, inner segment; OS, outer segment; PNA, peanut agglutinin; PR, photoreceptor; qRT-PCR, quantitative RT-PCR; RPE, retinal pigment epithelium; WT, wild type.


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