Cell Biology

Building a Picket Fence

See allHide authors and affiliations

Science  18 Jul 2003:
Vol. 301, Issue 5631, pp. 279
DOI: 10.1126/science.301.5631.279b

At the apical surfaces of hair cells in the mammalian ear, actin-containing stereocilia are arrayed like pickets in a fence, and deflection of them triggers auditory transduction; defects in stereocilia development have been linked to hearing impairment. Studying a mutant mouse called whirler, Mburu et al. find that the reason it is deaf and moves in circles is because of a mutation in a gene (whrn) that encodes an intracellular scaffolding protein containing three PDZ domains. These domains commonly mediate protein-protein interactions. The whirlin protein is present in stereocilia of inner and outer hair cells in the developing mouse cochlea, and may play a pivotal role in coordinating stereocilia development by forming a bridge between the actin cytoskeleton and signal transduction proteins.

In humans, the chromosomal locus DFNB31 has been linked to a rare form of deafness. These authors show that this locus harbors the homolog of whrn, and a mutation that deletes one of the PDZ domains was identified in individuals suffering from DFNB31-related deafness. — LDC

Nature Genet. 10.1038/ng1208 (2003).

Navigate This Article