Journal
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
Volume 1813, Issue 10, Pages 1883-1892Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.bbamcr.2011.05.015
Keywords
Sensorineuronal degeneration; Photoreceptor cell function; Intracellular transport; Microtubule based transport; Phosphodiesterase 4D interacting protein (PDE4DIP)
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Funding
- Stichting Studiefonds UMC St Radboud
- DFG
- Forschung contra Blindheit - Initative Usher Syndrom
- ProRetina Deutschland
- FAUN-Stiftung, Numberg
- European Community [FP7/2009/241955]
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The human Usher syndrome (USH) is the most frequent cause of combined hereditary deaf-blindness. USH is genetically heterogeneous with at least 11 chromosomal loci assigned to 3 clinical types, USH1-3. We have previously demonstrated that all USH1 and 2 proteins in the eye and the inner ear are organized into protein networks by scaffold proteins. This has contributed essentially to our current understanding of the function of USH proteins and explains why defects in proteins of different families cause very similar phenotypes. We have previously shown that the USH1G protein SANS (scaffold protein containing ankyrin repeats and SAM domain) contributes to the periciliary protein network in retinal photoreceptor cells. This study aimed to further elucidate the role of SANS by identifying novel interaction partners. In yeast two-hybrid screens of retinal cDNA libraries we identified 30 novel putative interacting proteins binding to the central domain of SANS (CENT). We confirmed the direct binding of the phosphodiesterase 4D interacting protein (PDE4DIP), a Golgi associated protein synonymously named myomegalin, to the CENT domain of SANS by independent assays. Correlative immunohistochemical and electron microscopic analyses showed a co-localization of SANS and myomegalin in mammalian photoreceptor cells in close association with microtubules. Based on the present results we propose a role of the SANS-myomegalin complex in microtubule-dependent inner segment cargo transport towards the ciliary base of photoreceptor cells. (C) 2011 Elsevier B.V. All rights reserved.
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