Stereocilia: the long and the short of it

Trends Mol Med. 2003 Nov;9(11):458-61. doi: 10.1016/j.molmed.2003.09.008.

Abstract

Mutations in whirlin, a putative PDZ scaffold protein, have recently been shown to cause deafness and short cochlear hair cell stereocilia in whirler mice and recessive deafness (DFNB31) in humans. Through its PDZ domains, whirlin might organize a group of proteins into a functional complex required for stereocilia elongation. Identifying these protein partners will advance our understanding of the development of stereocilia and their function as mechanosensory organelles indispensable for normal hearing.

MeSH terms

  • Animals
  • Deafness / genetics*
  • Deafness / metabolism
  • Deafness / pathology
  • Hair Cells, Auditory / metabolism*
  • Hair Cells, Auditory / pathology
  • Humans
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism
  • Mice

Substances

  • Membrane Proteins
  • WHRN protein, human
  • Whrn protein, mouse