A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9

Hear Res. 2007 Dec;234(1-2):21-8. doi: 10.1016/j.heares.2007.09.005. Epub 2007 Sep 29.

Abstract

Mutations of the otoferlin gene have been shown to underlie deafness disorders in humans and mice. Analyses of genetically engineered mice lacking otoferlin have demonstrated an essential role for this protein in vesicle exocytosis at the inner hair cell afferent synapse. Here, we report on the molecular and phenotypic characterization of a new ENU-induced missense mutation of the mouse otoferlin gene designated Otof(deaf5Jcs). The mutation is a single T to A base substitution in exon 10 of Otof that causes a non-conservative amino acid change of isoleucine to asparagine in the C2B domain of the protein. Although strong immunoreactivity with an otoferlin-specific antibody was detected in cochlear hair cells of wildtype mice, no expression was detected in mutant mice, indicating that the missense mutation has a severe effect on the stability of the protein and potentially its localization. Auditory brainstem response (ABR) analysis demonstrated that mice homozygous for the missense mutation are profoundly deaf, consistent with an essential role for otoferlin in inner hair cell neurotransmission. Vestibular-evoked potentials (VsEPs) of mutant mice, however, were equivalent to those of wildtype mice, indicating that otoferlin is unnecessary for vestibular function even though it is highly expressed in both vestibular and cochlear hair cells.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Acoustic Stimulation
  • Amino Acid Motifs
  • Amino Acid Sequence
  • Animals
  • Behavior, Animal
  • Conserved Sequence
  • Deafness / genetics*
  • Deafness / metabolism
  • Deafness / physiopathology
  • Disease Models, Animal
  • Ethylnitrosourea
  • Evoked Potentials, Auditory, Brain Stem
  • Genotype
  • Hair Cells, Auditory / metabolism
  • Heterozygote
  • Homozygote
  • Membrane Proteins / chemistry
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism
  • Mice
  • Mice, Inbred BALB C
  • Mice, Inbred C3H
  • Mice, Inbred C57BL
  • Molecular Sequence Data
  • Mutagens
  • Mutation, Missense*
  • Phenotype
  • Protein Denaturation
  • Protein Structure, Tertiary / genetics

Substances

  • Membrane Proteins
  • Mutagens
  • otoferlin protein, mouse
  • Ethylnitrosourea