GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.
PMID:12485990
| Citation |
Boëda, B, El-Amraoui, A, Bahloul, A, Goodyear, R, Daviet, L, Blanchard, S, Perfettini, I, Fath, KR, Shorte, S, Reiners, J, Houdusse, A, Legrain, P, Wolfrum, U, Richardson, G and Petit, C (2002) Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle. EMBO J. 21:6689-99 |
|---|---|
| Abstract |
Deaf-blindness in three distinct genetic forms of Usher type I syndrome (USH1) is caused by defects in myosin VIIa, harmonin and cadherin 23. Despite being critical for hearing, the functions of these proteins in the inner ear remain elusive. Here we show that harmonin, a PDZ domain-containing protein, and cadherin 23 are both present in the growing stereocilia and that they bind to each other. Moreover, we demonstrate that harmonin b is an F-actin-bundling protein, which is thus likely to anchor cadherin 23 to the stereocilia microfilaments, thereby identifying a novel anchorage mode of the cadherins to the actin cytoskeleton. Moreover, harmonin b interacts directly with myosin VIIa, and is absent from the disorganized hair bundles of myosin VIIa mutant mice, suggesting that myosin VIIa conveys harmonin b along the actin core of the developing stereocilia. We propose that the shaping of the hair bundle relies on a functional unit composed of myosin VIIa, harmonin b and cadherin 23 that is essential to ensure the cohesion of the stereocilia. |
| Links | |
| Keywords |
Actins/metabolism; Adaptor Proteins, Signal Transducing; Animals; Cadherins/chemistry; Cadherins/physiology; Carrier Proteins/chemistry; Carrier Proteins/physiology; Cell Differentiation; Cell Line; DNA, Complementary/metabolism; Dyneins; Gene Library; Hair Cells, Auditory/metabolism; HeLa Cells; Humans; Mice; Microscopy, Electron; Microscopy, Fluorescence; Myosins/chemistry; Myosins/physiology; Protein Binding; Protein Isoforms; Protein Structure, Tertiary; Rats; Rats, Wistar; Transfection; Two-Hybrid System Techniques |
| edit table |
Significance
Annotations
| Gene product | Qualifier | GO ID | GO term name | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| edit table |
See also
References
See Help:References for how to manage references in GONUTS.
