Stereocilia: the long and the short of it.
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.
Belyantseva
Inna A
IA
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA.
Labay
Valentina
V
Boger
Erich T
ET
Griffith
Andrew J
AJ
Friedman
Thomas B
TB
D000818:Animals; D003638:Deafness / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006198:Hair Cells, Auditory / Q000378:metabolism* / Q000473:pathology; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D051379:Mice
D008565:Membrane Proteins; C477219:WHRN protein, human; C477218:Whrn protein, mouse