Mutations in cadherin 23 affect tip links in zebrafish sensory hair cells

Christian Söllner, Gerd-Jörg Rauch, Jan Siemens, Robert Geisler, Stephan C. Schuster, Ulrich Müller and Teresa Nicolson ()
Additional contact information
Christian Söllner: Max-Planck-Institut für Entwicklungsbiologie
Gerd-Jörg Rauch: Abteilung Genetik, Max-Planck-Institut für Entwicklungsbiologie
Jan Siemens: The Scripps Research Institute
Robert Geisler: Abteilung Genetik, Max-Planck-Institut für Entwicklungsbiologie
Stephan C. Schuster: AG Genomics & Signal transduction, Max-Planck-Institut für Entwicklungsbiologie
Ulrich Müller: The Scripps Research Institute
Teresa Nicolson: Max-Planck-Institut für Entwicklungsbiologie

Nature, 2004, vol. 428, issue 6986, 955-959

Abstract: Abstract Hair cells have highly organized bundles of apical projections, or stereocilia, that are deflected by sound and movement. Displacement of stereocilia stretches linkages at the tips of stereocilia that are thought to gate mechanosensory channels1. To identify the molecular machinery that mediates mechanotransduction in hair cells, zebrafish mutants were identified with defects in balance and hearing2. In sputnik mutants, stereociliary bundles are splayed to various degrees, with individuals displaying reduced or absent mechanotransduction3,4. Here we show that the defects in sputnik mutants are caused by mutations in cadherin 23 (cdh23). Mutations in Cdh23 also cause deafness and vestibular defects in mice and humans5,6,7,8,9, and the protein is present in hair bundles10,11. We show that zebrafish Cdh23 protein is concentrated near the tips of hair bundles, and that tip links are absent in homozygous sputniktc317e larvae. Moreover, tip links are absent in larvae carrying weak alleles of cdh23 that affect mechanotransduction but not hair bundle integrity. We conclude that Cdh23 is an essential tip link component required for hair-cell mechanotransduction.

Date: 2004
References: Add references at CitEc
Citations: View citations in EconPapers (2)

Downloads: (external link)
https://www.nature.com/articles/nature02484 Abstract (text/html)
Access to the full text of the articles in this series is restricted.

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:nature:v:428:y:2004:i:6986:d:10.1038_nature02484

Ordering information: This journal article can be ordered from
https://www.nature.com/

DOI: 10.1038/nature02484

Access Statistics for this article

Nature is currently edited by Magdalena Skipper

More articles in Nature from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().