title: Impact of the Usher syndrome on olfaction.
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.
authors.affiliation: Cell Physiology, Faculty for Biology and Biotechnology, Ruhr-University Bochum, 44801 Bochum, Germany and.
authors.forename: Fabian
authors.initials: F
authors.lastname: Jansen
authors.affiliation: Cell Physiology, Faculty for Biology and Biotechnology, Ruhr-University Bochum, 44801 Bochum, Germany and.
authors.forename: Benjamin
authors.initials: B
authors.lastname: Kalbe
authors.affiliation: Cell Physiology, Faculty for Biology and Biotechnology, Ruhr-University Bochum, 44801 Bochum, Germany and.
authors.forename: Paul
authors.initials: P
authors.lastname: Scholz
authors.affiliation: Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg-University, 55099 Mainz, Germany.
authors.forename: Marta
authors.initials: M
authors.lastname: Mikosz
authors.affiliation: Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg-University, 55099 Mainz, Germany.
authors.forename: Kirsten A
authors.initials: KA
authors.lastname: Wunderlich
authors.affiliation: Cell Physiology, Faculty for Biology and Biotechnology, Ruhr-University Bochum, 44801 Bochum, Germany and.
authors.forename: Stefan
authors.initials: S
authors.lastname: Kurtenbach
authors.affiliation: Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg-University, 55099 Mainz, Germany.
authors.forename: Kerstin
authors.initials: K
authors.lastname: Nagel-Wolfrum
authors.affiliation: Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg-University, 55099 Mainz, Germany.
authors.forename: Uwe
authors.initials: U
authors.lastname: Wolfrum
authors.affiliation: Cell Physiology, Faculty for Biology and Biotechnology, Ruhr-University Bochum, 44801 Bochum, Germany and.
authors.forename: Hanns
authors.initials: H
authors.lastname: Hatt
authors.affiliation: Cell Physiology, Faculty for Biology and Biotechnology, Ruhr-University Bochum, 44801 Bochum, Germany and sabrina.baumgart@rub.de.
authors.forename: Sabrina
authors.initials: S
authors.lastname: Osterloh
mesh_terms: D000818:Animals; D015820:Cadherins / Q000235:genetics / Q000378:metabolism; D002352:Carrier Proteins / Q000235:genetics / Q000378:metabolism; D018797:Cell Cycle Proteins; D002460:Cell Line; D002923:Cilia / Q000378:metabolism / Q000473:pathology; D003598:Cytoskeletal Proteins; D004195:Disease Models, Animal; D004847:Epithelial Cells / Q000378:metabolism* / Q000473:pathology; D016326:Extracellular Matrix Proteins / Q000235:genetics / Q000378:metabolism; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation; D006801:Humans; D051379:Mice; D008822:Mice, Transgenic; D009154:Mutation; D000081412:Myosin VIIa; D009218:Myosins / Q000235:genetics / Q000378:metabolism; D009419:Nerve Tissue Proteins / Q000235:genetics / Q000378:metabolism; D009812:Odorants / Q000032:analysis*; D009831:Olfactory Mucosa / Q000378:metabolism* / Q000473:pathology; D015398:Signal Transduction; D012903:Smell / Q000235:genetics*; D052245:Usher Syndromes / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
chemical_list: D015820:Cadherins; D002352:Carrier Proteins; C499091:Cdh23 protein, mouse; D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; D016326:Extracellular Matrix Proteins; C000631455:MYO7A protein, human; C000631456:Myo7a protein, mouse; D000081412:Myosin VIIa; D009419:Nerve Tissue Proteins; C477451:Sans protein, mouse; C492262:Ush1c protein, mouse; C491810:Ush2a protein, mouse; D009218:Myosins