title: Altered cochlear fibrocytes in a mouse model of DFN3 nonsyndromic deafness.
abstract: DFN3, an X chromosome-linked nonsyndromic mixed deafness, is caused by mutations in the BRN-4 gene, which encodes a POU transcription factor. Brn-4-deficient mice were created and found to exhibit profound deafness. No gross morphological changes were observed in the conductive ossicles or cochlea, although there was a dramatic reduction in endocochlear potential. Electron microscopy revealed severe ultrastructural alterations in cochlear spiral ligament fibrocytes. The findings suggest that these fibrocytes, which are mesenchymal in origin and for which a role in potassium ion homeostasis has been postulated, may play a critical role in auditory function.
authors.affiliation: Department of Cell Biology, The Cancer Institute, Japanese Foundation for Cancer Research, 1-37-1 Kami-ikebukuro, Toshima-ku, Tokyo 170-8455, Japan.
authors.forename: O
authors.initials: O
authors.lastname: Minowa
authors.forename: K
authors.initials: K
authors.lastname: Ikeda
authors.forename: Y
authors.initials: Y
authors.lastname: Sugitani
authors.forename: T
authors.initials: T
authors.lastname: Oshima
authors.forename: S
authors.initials: S
authors.lastname: Nakai
authors.forename: Y
authors.initials: Y
authors.lastname: Katori
authors.forename: M
authors.initials: M
authors.lastname: Suzuki
authors.forename: M
authors.initials: M
authors.lastname: Furukawa
authors.forename: T
authors.initials: T
authors.lastname: Kawase
authors.forename: Y
authors.initials: Y
authors.lastname: Zheng
authors.forename: M
authors.initials: M
authors.lastname: Ogura
authors.forename: Y
authors.initials: Y
authors.lastname: Asada
authors.forename: K
authors.initials: K
authors.lastname: Watanabe
authors.forename: H
authors.initials: H
authors.lastname: Yamanaka
authors.forename: S
authors.initials: S
authors.lastname: Gotoh
authors.forename: M
authors.initials: M
authors.lastname: Nishi-Takeshima
authors.forename: T
authors.initials: T
authors.lastname: Sugimoto
authors.forename: T
authors.initials: T
authors.lastname: Kikuchi
authors.forename: T
authors.initials: T
authors.lastname: Takasaka
authors.forename: T
authors.initials: T
authors.lastname: Noda
mesh_terms: D000818:Animals; D003053:Cochlear Duct / Q000378:metabolism* / Q000473:pathology; D004268:DNA-Binding Proteins; D003638:Deafness / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D007758:Ear, Inner / Q000378:metabolism / Q000473:pathology; D004432:Ear, Middle / Q000473:pathology; D004710:Endolymph / Q000378:metabolism; D016057:Evoked Potentials, Auditory, Brain Stem; D005260:Female; D015870:Gene Expression; D018390:Gene Targeting; D008040:Genetic Linkage; D017403:In Situ Hybridization; D017136:Ion Transport; D008297:Male; D008564:Membrane Potentials; D051379:Mice; D008810:Mice, Inbred C57BL; D016296:Mutagenesis; D009419:Nerve Tissue Proteins; D050809:POU Domain Factors; D011188:Potassium / Q000378:metabolism*; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism*; D014960:X Chromosome
chemical_list: D004268:DNA-Binding Proteins; D009419:Nerve Tissue Proteins; D050809:POU Domain Factors; D014157:Transcription Factors; C074067:Pou3f4 protein, mouse; D011188:Potassium