Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases.

Expert Opinion on Therapeutic Targets
Manisha Anand, Hemant Khanna

Abstract

Primary cilia are microtubule-based extensions of the plasma membrane in nearly all cell types. In vertebrate photoreceptors, the sensory cilium develops as outer segment (OS) that contains the photopigment rhodopsin and other proteins necessary for phototransduction. The distinct composition of proteins and lipids in the OS membrane is maintained by the selective barrier located at the border between the basal body and the ciliary compartment, called the transition zone (TZ). In this review, we will discuss the identification and function of two ciliary TZ proteins, RPGR (retinitis pigmentosa GTPase regulator) and CEP290. Mutations in these proteins account for a majority of retinopathies due to ciliary dysfunction. We will also discuss the potential of such information in designing therapeutic approaches to treat cilia-dependent photoreceptor degenerative diseases. RPGR and CEP290 perform overlapping yet distinct functions in regulating trafficking of cargo via the TZ of photoreceptors. While RPGR modulates the trafficking by acting as a GEF for the small GTPase RAB8A, CEP290 may be involved in maintaining the polarized distribution of proteins in the OS by modulating intracellular levels of selected proteins involved in inhi...Continue Reading

References

Apr 1, 1977·Journal of Ultrastructure Research·J C Besharse, J G Hollyfield
Mar 1, 1988·Archives of Ophthalmology·G A FishmanD J Derlacki
May 15, 1988·American Journal of Ophthalmology·J R HeckenlivelyJ J Oversier
Sep 1, 1973·The Journal of Cell Biology·M M LaVail
May 1, 1995·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·P J Szczesny
Feb 11, 1999·The Journal of Cell Biology·J L RosenbaumD R Diener
Feb 17, 1999·Proceedings of the National Academy of Sciences of the United States of America·M LinariJ Becker
Mar 22, 2000·Proceedings of the National Academy of Sciences of the United States of America·D H HongT Li
Aug 10, 2000·Nature Genetics·R VervoortA F Wright
Aug 25, 2000·Human Molecular Genetics·J P Boylan, A F Wright
Apr 3, 2001·American Journal of Human Genetics·T P DryjaE L Berson
Feb 28, 2002·Current Biology : CB·Joel Rosenbaum
Jun 28, 2002·Physiological Reviews·U Benjamin Kaupp, Reinhard Seifert
Aug 10, 2002·Molecular & Cellular Proteomics : MCP·Lawrence E OstrowskiRichard C Boucher
Jan 9, 2003·Current Opinion in Cell Biology·Gregory J Pazour, George B Witman
Mar 26, 2003·Proceedings of the National Academy of Sciences of the United States of America·Yun ZhaoTiansen Li
May 27, 2003·Investigative Ophthalmology & Visual Science·Dong-Hyun HongTiansen Li
Oct 1, 2003·American Journal of Ophthalmology·Robert K KoenekoopGuy A Rouleau
Jun 18, 2005·The Journal of Biological Chemistry·Katherine J StrisselVadim Y Arshavsky
Jul 7, 2005·The Journal of Cell Biology·Gregory J PazourGeorge B Witman
Jan 27, 2006·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Katherine J StrisselVadim Y Arshavsky
Jul 25, 2006·Trends in Genetics : TIG·Peter N InglisMichel R Leroux
Aug 5, 2006·Science·Veena Singla, Jeremy F Reiter

❮ Previous
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Citations

May 27, 2014·Progress in Retinal and Eye Research·Susanne RoosingFrans P M Cremers
Jan 29, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Zachry T SoensRui Chen
Aug 28, 2012·Vision Research·Ozge Yildiz, Hemant Khanna
Jan 27, 2019·Biology of the Cell·Jyothi S AkellaMaureen M Barr
Oct 18, 2018·Journal of Medical Genetics·Adel ShalataYigal Dror
Jun 23, 2016·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Cecinio C RonquilloWolfgang Baehr
Apr 11, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Lloyd B WilliamsMargaret M DeAngelis
Sep 18, 2018·Current Medicinal Chemistry·Mahesh ShivannaHemant Khanna
Mar 25, 2019·Human Genetics·Morgane BunelPascale Quignon
Aug 30, 2020·Progress in Retinal and Eye Research·Samantha R De SilvaOmar A Mahroo

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