Photoreceptor Sensory Cilium: Traversing the Ciliary Gate

Cilia are antenna-like extensions of the plasma membrane found in nearly all cell types. In the retina of the eye, photoreceptors develop unique sensory cilia. Not much was known about the mechanisms underlying the formation and function of photoreceptor cilia, largely because of technical limitations and the specific structural and functional modifications that cannot be modeled in vitro. With recent advances in microscopy techniques and molecular and biochemical approaches, we are now beginning to understand the molecular basis of photoreceptor ciliary architecture, ciliary function and its involvement in human diseases. Here, I will discuss the studies that have revealed new knowledge of how photoreceptor cilia regulate their identity and function while coping with high metabolic and trafficking demands associated with processing light signal.

• Publication year

  2015

• Venue

  Cells

• Publication date

  2015-10-15

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.3390/cells4040674PMID 26501325PMCID 4695852
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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• Role of small GTPases in polarized vesicle transport to primary cilium

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• Light regulates the ciliary protein transport and outer segment disc renewal of mammalian photoreceptors.

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• Heterotrimeric Kinesin-2 (KIF3) Mediates Transition Zone and Axoneme Formation of Mouse Photoreceptors*

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• An Unconventional Secretory Pathway Mediates the Cilia Targeting of Peripherin/rds

  2014cited by this paper
• Molecular complexes that direct rhodopsin transport to primary cilia.

  2014cited by this paper
• Distinct functions for IFT140 and IFT20 in opsin transport

  2014cited by this paper
• Evolution of phototransduction, vertebrate photoreceptors and retina.

  2013cited by this paper
• Molecular connections between nuclear and ciliary import processes

  2013cited by this paper
• Chemically inducible diffusion trap at cilia reveals molecular sieve–like barrier

  2013cited by this paper
• Insulin Receptor Signaling in Cones*

  2013cited by this paper
• Defective trafficking of rhodopsin and its role in retinal degenerations.

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• Transport and localization of signaling proteins in ciliated cells.

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• The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization

  2012cited by this paper
• Ciliary signaling cascades in photoreceptors.

  2012cited by this paper
• Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases

  2012cited by this paper
• Accumulation of the Raf-1 Kinase Inhibitory Protein (Rkip) Is Associated with Cep290-mediated Photoreceptor Degeneration in Ciliopathies*

  2011cited by this paper
• A Transition Zone Complex Regulates Mammalian Ciliogenesis and Ciliary Membrane Composition

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• Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.

  2011influential reference
• Transition zone proteins and cilia dynamics

  2011cited by this paper
• Ciliopathies.

  2011cited by this paper
• A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain

  2011cited by this paper
• Intraflagellar transport proteins in ciliogenesis of photoreceptor cells

  2011cited by this paper
• The retina and its disorders

  2011cited by this paper
• Nephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargos

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• MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis

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• Differences in RDS trafficking, assembly and function in cones versus rods: insights from studies of C150S-RDS.

  2010cited by this paper
• Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas

  2010cited by this paper
• The vertebrate primary cilium in development, homeostasis, and disease.

  2009cited by this paper
• Ciliary targeting motif VxPx directs assembly of a trafficking module through Arf4

  2009cited by this paper
• The primary cilium as a complex signaling center.

  2009cited by this paper
• Centriole evolution.

  2009cited by this paper
• Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse.

  2009cited by this paper
• Immunoelectron microscopy of vesicle transport to the primary cilium of photoreceptor cells.

  2009cited by this paper
• Photoreceptor IFT Complexes Containing Chaperones, Guanylyl Cyclase 1 and Rhodopsin

  2009cited by this paper
• Ankyrin-G Promotes Cyclic Nucleotide–Gated Channel Transport to Rod Photoreceptor Sensory Cilia

  2009cited by this paper
• The BBSome.

  2009cited by this paper
• When cilia go bad: cilia defects and ciliopathies

  2008cited by this paper
• The outer segment serves as a default destination for the trafficking of membrane proteins in photoreceptors

  2008cited by this paper
• Assembly of primary cilia

  2008cited by this paper
• Mechanism of light‐induced translocation of arrestin and transducin in photoreceptors: Interaction‐restricted diffusion

  2007cited by this paper
• Protein networks and complexes in photoreceptor cilia.

  2007cited by this paper
• The Proteome of the Mouse Photoreceptor Sensory Cilium Complex*S

  2007cited by this paper
• Cilia and developmental signaling.

  2007cited by this paper
• Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons

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• The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

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• Light-driven translocation of signaling proteins in vertebrate photoreceptors.

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• Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.

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  2004cited by this paper
• The vertebrate primary cilium is a sensory organelle.

  2003cited by this paper
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  2002cited by this paper
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  2001cited by this paper
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  2000cited by this paper
• Distribution of membrane proteins in mechanically dissociated retinal rods.

  1988cited by this paper
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  1986cited by this paper
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  1983cited by this paper
• Some Observations on the Ultrastructure and Morphogenesis of Photoreceptors

  1960cited by this paper
• The Fine Structure of the Retina Studied with the Electron Microscope

  1959cited by this paper
• MORPHOGENESIS OF THE RETINAL RODS

  1956cited by this paper
• The ultrastructure of the innersegments of the retinal rods of the guinea pig eye as revealed by electron microscopy.

  1953cited by this paper
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  1953cited by this paper

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  2022cites this paper
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• Proteostasis and Disease: From Basic Mechanisms to Clinics

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• By the Tips of Your Cilia: Ciliogenesis in the Retina and the Ubiquitin-Proteasome System.

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• Hydrogel-based milliwell arrays for standardized and scalable retinal organoid cultures

  2020cites this paper
• Calcium flares and compartmentalization in rod photoreceptors

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• Tissue- and isoform-specific protein complex analysis with natively processed bait proteins.

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• RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP)

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  2020cites this paper
• Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision

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  2018cites this paper
• The role of intraflagellar transport in cilia maintenance

  2017cites this paper
• Photoreceptor Cilia and Retinal Ciliopathies.

  2017influential citation
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  2017influential citation
• Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.

  2016cites this paper
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  2016influential citation
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