Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells

Publication type:
Journal article
Metadata:
Autoren
  • J Reiners
  • B Reidel
  • A El-Amraoui
  • B Boëda
  • I Huber
  • C Petit
  • U Wolfrum
Autoren-URL
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=fis-test-1&SrcAuth=WosAPI&KeyUT=WOS:000186231800055&DestLinkType=FullRecord&DestApp=WOS_CPL
DOI
10.1167/iovs.03-0483
eISSN
1552-5783
Externe Identifier
  • Clarivate Analytics Document Solution ID: 737LL
  • PubMed Identifier: 14578428
ISSN
0146-0404
Ausgabe der Veröffentlichung
11
Zeitschrift
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Paginierung
5006 - 5015
Datum der Veröffentlichung
2003
Status
Published
Titel
Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells
Sub types
  • Article
Ausgabe der Zeitschrift
44

Data source: Web of Science (Lite)

Other metadata sources:
Autoren
  • Jan Reiners
  • Boris Reidel
  • Aziz El-Amraoui
  • Batiste Boe¨da
  • Irene Huber
  • Christine Petit
  • Uwe Wolfrum
DOI
10.1167/iovs.03-0483
ISSN
1552-5783
Ausgabe der Veröffentlichung
11
Zeitschrift
Investigative Opthalmology & Visual Science
Sprache
en
Paginierung
5006 - 5006
Datum der Veröffentlichung
2003
Status
Published
Herausgeber
Association for Research in Vision and Ophthalmology (ARVO)
Herausgeber URL
http://dx.doi.org/10.1167/iovs.03-0483
Datum der Datenerfassung
2017
Titel
Differential Distribution of Harmonin Isoforms and Their Possible Role in Usher-1 Protein Complexes in Mammalian Photoreceptor Cells
Ausgabe der Zeitschrift
44

Data source: Crossref

Abstract
<h4>Purpose</h4>Human Usher syndrome is the most common form of combined deafness and blindness. Usher type I (USH1), the most severe form, is characterized by profound congenital deafness, constant vestibular dysfunction, and prepubertal onset retinitis pigmentosa. Previous studies have shown that the USH1-proteins myosin VIIa, harmonin, and cadherin 23 interact and form a functional network during hair cell differentiation in the inner ear. The purpose of the present study was to analyze the molecular and cellular functions of these USH1 proteins in the mammalian retina.<h4>Methods</h4>Antibodies to USH1 proteins were generated and used in Western blot analysis of subcellular photoreceptor fractions and immunofluorescence and electron microscopy of the retina.<h4>Results</h4>Splice variants of harmonin were differentially expressed in the photoreceptor cell compartments. Whereas harmonin b isoforms were restricted to the light-sensitive outer segment, the harmonin a and c isoforms were more ubiquitously distributed in the photoreceptors. At the synaptic terminal of photoreceptor cells, harmonin a and c colocalized with myosin VIIa and cadherin 23.<h4>Conclusions</h4>USH1 molecules can assemble to a supramolecular complex at photoreceptor synapses. Such a complex may contribute to the cortical cytoskeletal matrices of the pre- and postsynaptic regions, which are thought to play a fundamental role in the organization of synaptic junctions. Dysfunction of any of the USH1 complex partners may lead to synaptic dysfunction causing retinitis pigmentosa, the clinical phenotype in the retina of patients with USH1. Furthermore, in photoreceptor outer segments, harmonin may also contribute to the clustering of outer segment proteins into supramolecular complexes.
Addresses
  • Institute for Zoology, Johannes Gutenberg-University, Mainz, Germany.
Autoren
  • Jan Reiners
  • Boris Reidel
  • Aziz El-Amraoui
  • Batiste Boëda
  • Irene Huber
  • Christine Petit
  • Uwe Wolfrum
DOI
10.1167/iovs.03-0483
eISSN
1552-5783
Externe Identifier
  • PubMed Identifier: 14578428
Open access
false
ISSN
0146-0404
Ausgabe der Veröffentlichung
11
Zeitschrift
Investigative ophthalmology & visual science
Schlüsselwörter
  • Subcellular Fractions
  • Animals
  • Mice, Inbred C57BL
  • Mice
  • Rats
  • Rats, Wistar
  • Myosins
  • Carrier Proteins
  • Cell Cycle Proteins
  • Cytoskeletal Proteins
  • Cadherins
  • Synaptophysin
  • Protein Isoforms
  • Microscopy, Immunoelectron
  • Microscopy, Fluorescence
  • Fluorescent Antibody Technique, Indirect
  • Blotting, Western
  • Reverse Transcriptase Polymerase Chain Reaction
  • Photoreceptor Cells, Vertebrate
  • Dyneins
  • Myosin VIIa
Sprache
eng
Medium
Print
Paginierung
5006 - 5015
Datum der Veröffentlichung
2003
Status
Published
Datum der Datenerfassung
2003
Titel
Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells.
Sub types
  • Research Support, Non-U.S. Gov't
  • Journal Article
Ausgabe der Zeitschrift
44

Data source: Europe PubMed Central

Abstract
PURPOSE: Human Usher syndrome is the most common form of combined deafness and blindness. Usher type I (USH1), the most severe form, is characterized by profound congenital deafness, constant vestibular dysfunction, and prepubertal onset retinitis pigmentosa. Previous studies have shown that the USH1-proteins myosin VIIa, harmonin, and cadherin 23 interact and form a functional network during hair cell differentiation in the inner ear. The purpose of the present study was to analyze the molecular and cellular functions of these USH1 proteins in the mammalian retina. METHODS: Antibodies to USH1 proteins were generated and used in Western blot analysis of subcellular photoreceptor fractions and immunofluorescence and electron microscopy of the retina. RESULTS: Splice variants of harmonin were differentially expressed in the photoreceptor cell compartments. Whereas harmonin b isoforms were restricted to the light-sensitive outer segment, the harmonin a and c isoforms were more ubiquitously distributed in the photoreceptors. At the synaptic terminal of photoreceptor cells, harmonin a and c colocalized with myosin VIIa and cadherin 23. CONCLUSIONS: USH1 molecules can assemble to a supramolecular complex at photoreceptor synapses. Such a complex may contribute to the cortical cytoskeletal matrices of the pre- and postsynaptic regions, which are thought to play a fundamental role in the organization of synaptic junctions. Dysfunction of any of the USH1 complex partners may lead to synaptic dysfunction causing retinitis pigmentosa, the clinical phenotype in the retina of patients with USH1. Furthermore, in photoreceptor outer segments, harmonin may also contribute to the clustering of outer segment proteins into supramolecular complexes.
Autoren
  • Jan Reiners
  • Boris Reidel
  • Aziz El-Amraoui
  • Batiste Boëda
  • Irene Huber
  • Christine Petit
  • Uwe Wolfrum
Autoren-URL
https://www.ncbi.nlm.nih.gov/pubmed/14578428
DOI
10.1167/iovs.03-0483
ISSN
0146-0404
Ausgabe der Veröffentlichung
11
Zeitschrift
Invest Ophthalmol Vis Sci
Schlüsselwörter
  • Animals
  • Blotting, Western
  • Cadherins
  • Carrier Proteins
  • Cell Cycle Proteins
  • Cytoskeletal Proteins
  • Dyneins
  • Fluorescent Antibody Technique, Indirect
  • Mice
  • Mice, Inbred C57BL
  • Microscopy, Fluorescence
  • Microscopy, Immunoelectron
  • Myosin VIIa
  • Myosins
  • Photoreceptor Cells, Vertebrate
  • Protein Isoforms
  • Rats
  • Rats, Wistar
  • Reverse Transcriptase Polymerase Chain Reaction
  • Subcellular Fractions
  • Synaptophysin
Sprache
eng
Country
United States
Paginierung
5006 - 5015
Datum der Veröffentlichung
2003
Status
Published
Datum, an dem der Datensatz öffentlich gemacht wurde
2003
Titel
Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells.
Sub types
  • Journal Article
  • Research Support, Non-U.S. Gov't
Ausgabe der Zeitschrift
44

Data source: PubMed

Beziehungen:
Property of

Tools