April 2010
Volume 51, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2010
USH1G Protein Sans Interacts With Myomegalin in Mammalian Photoreceptor Cells
N. L. Overlack; D. Kilic; T. Maerker; K. Bauss; E. van Wijk; G. Stern-Schneider; R. Roepman; H. Kremer; U. Wolfrum
Author Affiliations & Notes
  • N. L. Overlack
    Cell & Matrix Biology, University Mainz, Mainz Rheinland-Pfalz, Germany
  • D. Kilic
    Cell & Matrix Biology, University Mainz, Mainz Rheinland-Pfalz, Germany
  • T. Maerker
    Cell & Matrix Biology, University Mainz, Mainz Rheinland-Pfalz, Germany
  • K. Bauss
    Cell & Matrix Biology, University Mainz, Mainz Rheinland-Pfalz, Germany
  • E. van Wijk
    Dept. of Otorhinolaryngology, University Med. Center Nijmegen, Nijmegen, The Netherlands
  • G. Stern-Schneider
    Cell & Matrix Biology, University Mainz, Mainz Rheinland-Pfalz, Germany
  • R. Roepman
    Dept. of Otorhinolaryngology, University Med. Center Nijmegen, Nijmegen, The Netherlands
  • H. Kremer
    Dept. of Otorhinolaryngology, University Med. Center Nijmegen, Nijmegen, The Netherlands
  • U. Wolfrum
    Cell & Matrix Biology, University Mainz, Mainz Rheinland-Pfalz, Germany
  • Footnotes
    Commercial Relationships  N.L. Overlack, None; D. Kilic, None; T. Maerker, None; K. Bauss, None; E. van Wijk, None; G. Stern-Schneider, None; R. Roepman, None; H. Kremer, None; U. Wolfrum, None.
  • Footnotes
    Support  FAUN; FFB; DFG
Investigative Ophthalmology & Visual Science April 2010, Vol.51, 1096. doi:
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      N. L. Overlack, D. Kilic, T. Maerker, K. Bauss, E. van Wijk, G. Stern-Schneider, R. Roepman, H. Kremer, U. Wolfrum; USH1G Protein Sans Interacts With Myomegalin in Mammalian Photoreceptor Cells. Invest. Ophthalmol. Vis. Sci. 2010;51(13):1096.

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Abstract

Purpose: : The human Usher syndrome (USH) is the most common form of combined deaf-blindness. Usher type I (USH1), the most severe form, is characterized by profound congenital deafness, constant vestibular dysfunction and pre-pubertal onset of retinitis pigmentosa. USH1g encodes the SANS (scaffold protein containing ankyrin repeats and SAM domain) protein which contains putative protein-binding motifs. Recent studies revealed SANS scaffolding function in the protein interactome related to USH. The aim of the study was to enlighten SANS cellular functions by identifying novel interaction partners of SANS.

Methods: : Y2H screen of retinal cDNA libraries were performed with the central domain of SANS. Expression analyses were assessed by RT-PCR and Western blots. Protein-protein interactions were validated by GST pull-down. Indirect immunofluorescence assessed co-localization of identified partners in cell culture and mouse, macaque as well as human retinas.

Results: : The phosphodiesterase 4D interacting protein Myomegalin (PDE4DIP) was identified and confirmed as an interaction partner of the USH1G protein SANS. Myomegalin is expressed in a variety of tissues including the murine, macaque and human retina. In retinas Myomegalin is localized in the RPE, photoreceptors, inner nuclear layer and ganglion cell layer. Co-localization of SANS and Myomegalin was found in the ciliary region and the inner segment of photoreceptor cells. Co-localization of both interacting partners at centrosomes and spindle poles of cultured cells confirmed their microtubule association.

Conclusions: : Myomegalin directly interacts with the USH1g protein SANS and integrates Myomegalin in the multifunctional protein interactome related to USH. Localization of both proteins at microtubule enriched compartments suggests a microtubule-associated function. A role of the SANS-Myomegalin complex in microtubule-dependent inner segment cargo transport towards the ciliary apparatus of photoreceptor cells is proposed.

Keywords: photoreceptors • retina • protein structure/function 
© 2010, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2025 Association for Research in Vision and Ophthalmology.
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