Impact of the Usher syndrome on olfaction

Autoren

Fabian Jansen
Benjamin Kalbe
Paul Scholz
Marta Mikosz
Kirsten A Wunderlich
Stefan Kurtenbach
Kerstin Nagel-Wolfrum
Uwe Wolfrum
Hanns Hatt
Sabrina Osterloh

DOI

10.1093/hmg/ddv490

eISSN

1460-2083

ISSN

0964-6906

Ausgabe der Veröffentlichung

3

Zeitschrift

Human Molecular Genetics

Sprache

en

Online publication date

2015

Paginierung

524 - 533

Datum der Veröffentlichung

2016

Status

Published

Herausgeber

Oxford University Press (OUP)

Herausgeber URL

http://dx.doi.org/10.1093/hmg/ddv490

Datum der Datenerfassung

2020

Titel

Impact of the Usher syndrome on olfaction

Ausgabe der Zeitschrift

25

Datenquelle: Crossref

Abstract

Usher syndrome is a genetically and clinically heterogeneous disease in humans, characterized by sensorineural hearing loss, retinitis pigmentosa and vestibular dysfunction. This disease is caused by mutations in genes encoding proteins that form complex networks in different cellular compartments. Currently, it remains unclear whether the Usher proteins also form networks within the olfactory epithelium (OE). Here, we describe Usher gene expression at the mRNA and protein level in the OE of mice and showed interactions between these proteins and olfactory signaling proteins. Additionally, we analyzed the odor sensitivity of different Usher syndrome mouse models using electro-olfactogram recordings and monitored significant changes in the odor detection capabilities in mice expressing mutant Usher proteins. Furthermore, we observed changes in the expression of signaling proteins that might compensate for the Usher protein deficiency. In summary, this study provides novel insights into the presence and purpose of the Usher proteins in olfactory signal transduction.

Addresses

Cell Physiology, Faculty for Biology and Biotechnology, Ruhr-University Bochum, 44801 Bochum, Germany and.

Autoren

Fabian Jansen
Benjamin Kalbe
Paul Scholz
Marta Mikosz
Kirsten A Wunderlich
Stefan Kurtenbach
Kerstin Nagel-Wolfrum
Uwe Wolfrum
Hanns Hatt
Sabrina Osterloh

DOI

10.1093/hmg/ddv490

eISSN

1460-2083

Externe Identifier

PubMed Identifier: 26620972

Funding acknowledgements

Wilhelm und Guenter Esser-Stiftung:
European Community: FP7/2009/241955
International Max-Planck Research School in Chemical Biology:
Deutsche Forschungsgemeinschaft: SFB642
Foundation Fighting Blindness (FFB):
Ruhr-University Research School:
Studienstiftung des deutschen Volkes:

Open access

false

ISSN

0964-6906

Ausgabe der Veröffentlichung

3

Zeitschrift

Human molecular genetics

Schlüsselwörter

Olfactory Mucosa
Cell Line
Cilia
Epithelial Cells
Animals
Mice, Transgenic
Humans
Mice
Disease Models, Animal
Myosins
Carrier Proteins
Cell Cycle Proteins
Cytoskeletal Proteins
Cadherins
Nerve Tissue Proteins
Extracellular Matrix Proteins
Gene Expression Profiling
Smell
Signal Transduction
Gene Expression Regulation
Mutation
Usher Syndromes
Odorants
Myosin VIIa

Sprache

eng

Medium

Print-Electronic

Online publication date

2015

Paginierung

524 - 533

Datum der Veröffentlichung

2016

Status

Published

Datum der Datenerfassung

2015

Titel

Impact of the Usher syndrome on olfaction.

Sub types

Research Support, Non-U.S. Gov't
Journal Article

Ausgabe der Zeitschrift

25

Datenquelle: Europe PubMed Central

Abstract

Usher syndrome is a genetically and clinically heterogeneous disease in humans, characterized by sensorineural hearing loss, retinitis pigmentosa and vestibular dysfunction. This disease is caused by mutations in genes encoding proteins that form complex networks in different cellular compartments. Currently, it remains unclear whether the Usher proteins also form networks within the olfactory epithelium (OE). Here, we describe Usher gene expression at the mRNA and protein level in the OE of mice and showed interactions between these proteins and olfactory signaling proteins. Additionally, we analyzed the odor sensitivity of different Usher syndrome mouse models using electro-olfactogram recordings and monitored significant changes in the odor detection capabilities in mice expressing mutant Usher proteins. Furthermore, we observed changes in the expression of signaling proteins that might compensate for the Usher protein deficiency. In summary, this study provides novel insights into the presence and purpose of the Usher proteins in olfactory signal transduction.

Date of acceptance

2015

Autoren

Fabian Jansen
Benjamin Kalbe
Paul Scholz
Marta Mikosz
Kirsten A Wunderlich
Stefan Kurtenbach
Kerstin Nagel-Wolfrum
Uwe Wolfrum
Hanns Hatt
Sabrina Osterloh

Autoren-URL

https://www.ncbi.nlm.nih.gov/pubmed/26620972

DOI

10.1093/hmg/ddv490

eISSN

1460-2083

Ausgabe der Veröffentlichung

3

Zeitschrift

Hum Mol Genet

Schlüsselwörter

Animals
Cadherins
Carrier Proteins
Cell Cycle Proteins
Cell Line
Cilia
Cytoskeletal Proteins
Disease Models, Animal
Epithelial Cells
Extracellular Matrix Proteins
Gene Expression Profiling
Gene Expression Regulation
Humans
Mice
Mice, Transgenic
Mutation
Myosin VIIa
Myosins
Nerve Tissue Proteins
Odorants
Olfactory Mucosa
Signal Transduction
Smell
Usher Syndromes

Sprache

eng

Country

England

Paginierung

524 - 533

PII

ddv490

Datum der Veröffentlichung

2016

Status

Published

Datum, an dem der Datensatz öffentlich gemacht wurde

2016

Titel

Impact of the Usher syndrome on olfaction.

Sub types

Journal Article
Research Support, Non-U.S. Gov't

Ausgabe der Zeitschrift

25

Datenquelle: PubMed

Werkzeuge