Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse.
ABSTRACT Nephrocystin mutations account for the vast majority of juvenile nephronophthisis, the most common inherited cause of renal failure in children. Nephrocystin has been localized to the ciliary transition zone of epithelial cells or its analogous structure, connecting cilium of retinal photoreceptors. Thus, the retinal degeneration associated with nephronophthisis may be explained by a functional ciliary defect. However, the function of nephrocystin in cilium assembly and maintenance of common epithelial cells and photoreceptors is still obscure. Here, we used Nphp1-targeted mutant mice and transgenic mice expressing EmGFP-tagged nephrocystin to demonstrate that nephrocystin located at connecting cilium axoneme can affect the sorting mechanism and transportation efficiency of the traffic machinery between inner and outer segments of photoreceptors. This traffic machinery is now recognized as intraflagellar transport (IFT); a microtubule-based transport system consisting of motors, IFT particles and associated cargo molecules. Nephrocystin seems to control some of the IFT particle components moving along the connecting cilia so as to regulate this inter-segmental traffic. Our novel findings provide a clue to unraveling the regulatory mechanism of nephrocystin in IFT machinery.
- SourceAvailable from: Rustem E Uzbekov[Show abstract] [Hide abstract]
ABSTRACT: The book describes the history of the centrosome study and presents the current state of knowledge about this cell organelle in the morphological, biochemical and functional aspects. In addition to the classical function of the centrosome as a center of nucleation, anchoring and organization of MT, the ideas of centrosome as a cellular regulatory center and as a structural part of the mechanism controlling the dynamic morphology of the cells are discussed in the book. Key words: centrosome, centriole, basal body, primary cilium, microtubules. Now the book being translated into English. We are looking for funding and Publisher for the publication of this book in English.edited by Prof. E.S. Nadezhdina, 09/2013; Moscow: Moscow University Press, 2013. – 320 pages.., ISBN: 978-5-211-06550-5
- 06/2014: pages 178-190; , ISBN: 978-5-9903422-5-5
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ABSTRACT: The normal development and function of photoreceptors is essential for eye health and visual acuity in vertebrates. Mutations in genes encoding proteins involved in photoreceptor development and function are associated with a suite of inherited retinal dystrophies, often as part of complex multi-organ syndromic conditions. In this review, we focus on the role of the photoreceptor outer segment, a highly modified and specialized primary cilium, in retinal health and disease. We discuss the many defects in the structure and function of the photoreceptor primary cilium that can cause a class of inherited conditions known as ciliopathies, often characterized by retinal dystrophy and degeneration, and highlight the recent insights into disease mechanisms.Organogenesis 10/2013; 10(1). · 2.28 Impact Factor