Article
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.
Nature genetics - 1 Aug 2003
Mburu Philomena, Mustapha Mirna, Varela Anabel, Weil Dominique, El-Amraoui Aziz, Holme Ralph H, Rump Andreas, Hardisty Rachel E, Blanchard Stéphane, Coimbra Roney S, Perfettini Isabelle, Parkinson Nick, Mallon Ann-Marie, Glenister Pete, Rogers Mike J, Paige Adam J, Moir Lee, Clay Jo, Rosenthal Andre, Liu Xue Zhong, Blanco Gonzalo, Steel Karen P, Petit Christine, Brown Steve D M
Abstract excerpt
The whirler mouse mutant (wi) does not respond to sound stimuli, and detailed ultrastructural analysis of sensory hair cells in the organ of Corti of the inner ear indicates that the whirler gene encodes a protein involved in the elongation and maintenance of stereocilia in both inner hair cells (IHCs) and outer hair cells (OHCs). BAC-mediated transgene correction of the mouse phenotype and mutation analysis...
Topics
- Amino Acid Sequence
- Animals
- Chromosome Mapping
- Cilia
- DNA Mutational Analysis
- DNA, Complementary
- Deafness
- Gene Expression