Journal
PROGRESS IN RETINAL AND EYE RESEARCH
Volume 71, Issue -, Pages 26-56Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.preteyeres.2018.12.004
Keywords
Centrosome; Mother and daughter centrioles; Distal and subdistal appendages; Transition zone; Pericentriolar matrix; Microtubules and microtubule organization center; Photoreceptors; Knockout mouse models
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Funding
- NIH [EY08123, EY019298]
- Research to Prevent Blindness (RPB
- New York)
- Retina Research Foundation, Houston
- T32 training grant in 2016
- RPB Nelson Trust Award
- RPB Senior Investigator award
- T32 training grant in 2017
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Photoreceptors are polarized neurons, with very specific subcellular compartmentalization and unique requirements for protein expression and trafficking. Each photoreceptor contains an outer segment, the site of photon capture that initiates vision, an inner segment that houses the biosynthetic machinery and a synaptic terminal for signal transmission to downstream neurons. Outer segments and inner segments are connected by a connecting cilium (CC), the equivalent of a transition zone (TZ) of primary cilia. The connecting cilium is part of the basal body/axoneme backbone that stabilizes the outer segment. This report will update the reader on late developments in photoreceptor ciliogenesis and transition zone formation, specifically in mouse photoreceptors, focusing on early events in photoreceptor ciliogenesis. The connecting cilium, an elongated and narrow structure through which all outer segment proteins and membrane components must traffic, functions as a gate that controls access to the outer segment. Here we will review genes and their protein products essential for basal body maturation and for CC/TZ genesis, sorted by phenotype. Emphasis is given to naturally occurring mouse mutants and gene knockouts that interfere with CC/TZ formation and ciliogenesis.
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