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The mechanisms responsible for outer segment delivery of other transmembrane proteins remain essentially unknown.
A second approach to this question would be to immunostain for Tra-1-85 together with antibodies for outer segment, connecting cilium and presynaptic nerve terminal components.
We show that Cc2d2a localizes to the connecting cilium/transition zone of cilia in photoreceptors and various other cells and is required for outer segment development and normal visual function.
Thus, although it was not possible to deduce from a comparison of just two cargo proteins that the defect induced by Sec13 was truly rhodopsin-specific, it could be concluded that transport was not generally impaired and an important requirement for outer segment biogenesis was in place.
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In this chapter, we survey the major progress that has been made for understanding the molecular basis of outer segment architecture.
RP1 protein is required for correct orientation and higher-order stacking of outer segment disks [ 21] and was shown to be part of the photoreceptor axoneme [ 22].
Thus, the loss of outer segment function induces photoreceptor apoptosis.
The connecting cilium serves as a conduit for bidirectional transport of protein complexes, and is important for the outer segment disc morphogenesis and renewal [ 29].
Based on these data, we conclude that Cc2d2a is required for photoreceptor outer segment development and maintenance, and that its deficiency leads to slow photoreceptor degeneration.
Specifically, the two Pcdh15 orthologs in zebrafish have distinct functions in hearing and vision: Pcdh15a is required for normal auditory and vestibular function, while Pcdh15b is required for normal photoreceptor outer segment organization and retinal function.
RDS is a major organizer for the photoreceptor outer segment (OS) architecture [ 52].
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