SANS (USH1G) expression in developing and mature mammalian retina

Publikationstyp:
Zeitschriftenaufsatz
Metadaten:
Autoren
  • Nora Overlack
  • Tina Maerker
  • Martin Latz
  • Kerstin Nagel-Wolfrurn
  • Uwe Wolfrum
Autoren-URL
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=fis-test-1&SrcAuth=WosAPI&KeyUT=WOS:000253832000012&DestLinkType=FullRecord&DestApp=WOS_CPL
DOI
10.1016/j.visres.2007.08.021
Externe Identifier
  • Clarivate Analytics Document Solution ID: 272BG
  • PubMed Identifier: 17923142
ISSN
0042-6989
Ausgabe der Veröffentlichung
3
Zeitschrift
VISION RESEARCH
Schlüsselwörter
  • Usher syndrome
  • photoreceptor cells
  • connecting cilium
  • synapse
  • ciliogenesis
  • retinal development
Paginierung
400 - 412
Datum der Veröffentlichung
2008
Status
Published
Titel
SANS (USH1G) expression in developing and mature mammalian retina
Sub types
  • Article
Ausgabe der Zeitschrift
48

Datenquelle: Web of Science (Lite)

Andere Metadatenquellen:
Autoren
  • Nora Overlack
  • Tina Maerker
  • Martin Latz
  • Kerstin Nagel-Wolfrum
  • Uwe Wolfrum
DOI
10.1016/j.visres.2007.08.021
ISSN
0042-6989
Ausgabe der Veröffentlichung
3
Zeitschrift
Vision Research
Sprache
en
Paginierung
400 - 412
Datum der Veröffentlichung
2008
Status
Published
Herausgeber
Elsevier BV
Herausgeber URL
http://dx.doi.org/10.1016/j.visres.2007.08.021
Datum der Datenerfassung
2023
Titel
SANS (USH1G) expression in developing and mature mammalian retina
Ausgabe der Zeitschrift
48

Datenquelle: Crossref

Abstract
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 prepubertal-onset of retinitis pigmentosa. Five corresponding genes of the six USH1 genes have been cloned so far. The USH1G gene encodes the SANS (scaffold protein containing ankyrin repeats and SAM domain) protein which consists of protein motifs known to mediate protein-protein interactions. Recent studies indicated SANS function as a scaffold protein in the protein interactome related to USH. Here, we generated specific antibodies for SANS protein expression analyses. Our study revealed SANS protein expression in NIH3T3 fibroblasts, murine tissues containing ciliated cells and in mature and developing mammalian retinas. In mature retinas, SANS was localized in inner and outer plexiform retinal layers, and in the photoreceptor cell layer. Subcellular fractionations, tangential cryosections and immunocytochemistry revealed SANS in synaptic terminals, cell-cell adhesions of the outer limiting membrane and ciliary apparati of photoreceptor cells. Analyses of postnatal developmental stages of murine retinas demonstrated SANS localization in differentiating ciliary apparati and in fully developed cilia, synapses, and cell-cell adhesions of photoreceptor cells. Present data provide evidence that SANS functions as a scaffold protein in USH protein networks during ciliogenesis, at the mature ciliary apparatus, the ribbon synapse and the cell-cell adhesion of mammalian photoreceptor cells. Defects of SANS may cause dysfunction of the entire network leading to retinal degeneration, the ocular symptom characteristic for USH patients.
Addresses
  • Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg-University of Mainz, Germany.
Autoren
  • Nora Overlack
  • Tina Maerker
  • Martin Latz
  • Kerstin Nagel-Wolfrum
  • Uwe Wolfrum
DOI
10.1016/j.visres.2007.08.021
eISSN
1878-5646
Externe Identifier
  • PubMed Identifier: 17923142
Open access
false
ISSN
0042-6989
Ausgabe der Veröffentlichung
3
Zeitschrift
Vision research
Schlüsselwörter
  • Synapses
  • Retina
  • Ciliary Body
  • Cilia
  • Centrosome
  • Synaptosomes
  • Fibroblasts
  • Animals
  • Mice, Inbred C57BL
  • Rats, Inbred WKY
  • Xenopus laevis
  • Mice
  • Rats
  • Eye Proteins
  • Nerve Tissue Proteins
  • Immune Sera
  • Blotting, Western
  • Antibody Specificity
  • Usher Syndromes
  • Photoreceptor Cells, Vertebrate
Sprache
eng
Medium
Print-Electronic
Online publication date
2007
Paginierung
400 - 412
Datum der Veröffentlichung
2008
Status
Published
Datum der Datenerfassung
2007
Titel
SANS (USH1G) expression in developing and mature mammalian retina.
Sub types
  • Research Support, Non-U.S. Gov't
  • Journal Article
Ausgabe der Zeitschrift
48

Datenquelle: Europe PubMed Central

Abstract
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 prepubertal-onset of retinitis pigmentosa. Five corresponding genes of the six USH1 genes have been cloned so far. The USH1G gene encodes the SANS (scaffold protein containing ankyrin repeats and SAM domain) protein which consists of protein motifs known to mediate protein-protein interactions. Recent studies indicated SANS function as a scaffold protein in the protein interactome related to USH. Here, we generated specific antibodies for SANS protein expression analyses. Our study revealed SANS protein expression in NIH3T3 fibroblasts, murine tissues containing ciliated cells and in mature and developing mammalian retinas. In mature retinas, SANS was localized in inner and outer plexiform retinal layers, and in the photoreceptor cell layer. Subcellular fractionations, tangential cryosections and immunocytochemistry revealed SANS in synaptic terminals, cell-cell adhesions of the outer limiting membrane and ciliary apparati of photoreceptor cells. Analyses of postnatal developmental stages of murine retinas demonstrated SANS localization in differentiating ciliary apparati and in fully developed cilia, synapses, and cell-cell adhesions of photoreceptor cells. Present data provide evidence that SANS functions as a scaffold protein in USH protein networks during ciliogenesis, at the mature ciliary apparatus, the ribbon synapse and the cell-cell adhesion of mammalian photoreceptor cells. Defects of SANS may cause dysfunction of the entire network leading to retinal degeneration, the ocular symptom characteristic for USH patients.
Date of acceptance
2007
Autoren
  • Nora Overlack
  • Tina Maerker
  • Martin Latz
  • Kerstin Nagel-Wolfrum
  • Uwe Wolfrum
Autoren-URL
https://www.ncbi.nlm.nih.gov/pubmed/17923142
DOI
10.1016/j.visres.2007.08.021
ISSN
0042-6989
Ausgabe der Veröffentlichung
3
Zeitschrift
Vision Res
Schlüsselwörter
  • Animals
  • Antibody Specificity
  • Blotting, Western
  • Centrosome
  • Cilia
  • Ciliary Body
  • Eye Proteins
  • Fibroblasts
  • Immune Sera
  • Mice
  • Mice, Inbred C57BL
  • Nerve Tissue Proteins
  • Photoreceptor Cells, Vertebrate
  • Rats
  • Rats, Inbred WKY
  • Retina
  • Synapses
  • Synaptosomes
  • Usher Syndromes
  • Xenopus laevis
Sprache
eng
Country
England
Paginierung
400 - 412
PII
S0042-6989(07)00362-8
Datum der Veröffentlichung
2008
Status
Published
Datum, an dem der Datensatz öffentlich gemacht wurde
2008
Titel
SANS (USH1G) expression in developing and mature mammalian retina.
Sub types
  • Journal Article
  • Research Support, Non-U.S. Gov't
Ausgabe der Zeitschrift
48

Datenquelle: PubMed

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