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Prog Retin Eye Res. 2016 Nov;55:52-81. doi: 10.1016/j.preteyeres.2016.05.003. Epub 2016 Jun 1.

Molecular basis for photoreceptor outer segment architecture.

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Eye Research Institute, Oakland University, 417 Dodge Hall, Rochester, MI, 48309, USA. Electronic address:
Department of Ophthalmology & Visual Sciences, University of British Columbia, Vancouver, BC, Canada.
Department of Ophthalmology and Jules Stein Eye Institute, Department of Neurobiology, David Geffen School of Medicine at UCLA, University of California, Los Angeles, CA, USA.


To serve vision, vertebrate rod and cone photoreceptors must detect photons, convert the light stimuli into cellular signals, and then convey the encoded information to downstream neurons. Rods and cones are sensory neurons that each rely on specialized ciliary organelles to detect light. These organelles, called outer segments, possess elaborate architectures that include many hundreds of light-sensitive membranous disks arrayed one atop another in precise register. These stacked disks capture light and initiate the chain of molecular and cellular events that underlie normal vision. Outer segment organization is challenged by an inherently dynamic nature; these organelles are subject to a renewal process that replaces a significant fraction of their disks (up to ∼10%) on a daily basis. In addition, a broad range of environmental and genetic insults can disrupt outer segment morphology to impair photoreceptor function and viability. In this chapter, we survey the major progress that has been made for understanding the molecular basis of outer segment architecture. We also discuss key aspects of organelle lipid and protein composition, and highlight distributions, interactions, and potential structural functions of key OS-resident molecules, including: kinesin-2, actin, RP1, prominin-1, protocadherin 21, peripherin-2/rds, rom-1, glutamic acid-rich proteins, and rhodopsin. Finally, we identify key knowledge gaps and challenges that remain for understanding how normal outer segment architecture is established and maintained.


Cilia; Membrane curvature; Outer segment; Photoreceptor; Retinal degeneration; Tetraspanin

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