Document Detail


Assessing PCP in the Cochlea of Mammalian Ciliopathy Models.
MedLine Citation:
PMID:  22218906     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
The increased availability of mouse models of human genetic ciliary diseases has led to advances in our understanding of the diverse cellular roles played by cilia. The family of so-called "ciliopathies" includes Alström Syndrome, Bardet-Biedl Syndrome, Primary Ciliary Dyskinesia, and Polycystic Kidney Disease, among many others. In mouse models of Alström Syndrome and Bardet-Biedl Syndrome, we have shown developmental defects in the mechano-sensory stereociliary bundles on the apical surfaces of "hair" cells in the cochlea, the mammalian hearing organ. Stereocilia are specialized actin-based microvilli, whose characteristic patterning is thought to be dependent on the hair cell's primary cilium ("kinocilium"). Ciliopathy-associated proteins are localized to the ciliary axoneme and/or the ciliary basal body, or to the bundle itself. Ciliopathy-associated genes functionally interact with genes of the noncanonical Wnt pathway, and so implicate PCP in the control of hair cell development.
Authors:
Daniel J Jagger; Andrew Forge
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Methods in molecular biology (Clifton, N.J.)     Volume:  839     ISSN:  1940-6029     ISO Abbreviation:  Methods Mol. Biol.     Publication Date:  2012  
Date Detail:
Created Date:  2012-01-05     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9214969     Medline TA:  Methods Mol Biol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  239-48     Citation Subset:  IM    
Affiliation:
Centre for Auditory Research, UCL Ear Institute, University College London, London, UK, d.jagger@ucl.ac.uk.
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