Document Detail

Functional characterization of the C. elegans nephrocystins NPHP-1 and NPHP-4 and their role in cilia and male sensory behaviors.
MedLine Citation:
PMID:  15817158     Owner:  NLM     Status:  MEDLINE    
Autosomal dominant polycystic kidney disease (ADPKD) and nephronophthisis (NPH) share two common features: cystic kidneys and ciliary localized gene products. Mutation in either the PKD1 or PKD2 gene accounts for 95% of all ADPKD cases. Mutation in one of four genes (NPHP1-4) results in nephronophthisis. The NPHP1, NPHP2, PKD1, and PKD2 protein products (nephrocystin-1, nephrocystin-2 or inversin, polycystin-1, and polycystin-2, respectively) localize to primary cilia of renal epithelia. However, the relationship between the nephrocystins and polycystins, if any, is unknown. In the nematode Caenorhabditis elegans, the LOV-1 and PKD-2 polycystins localize to male-specific sensory cilia and are required for male mating behaviors. To test the hypothesis that ADPKD and NPH cysts arise from a common defect in cilia, we characterized the C. elegans homologs of NPHP1 and NPHP4. C. elegans nphp-1 and nphp-4 are expressed in a subset of sensory neurons. GFP-tagged NPHP-1 and NPHP-4 proteins localize to ciliated sensory endings of dendrites and colocalize with PKD-2 in male-specific sensory cilia. The cilia of nphp-1(ok500) and nphp-4(tm925) mutants are intact. nphp-1; nphp-4 double, but not single, mutant males are response defective. We propose that NPHP-1 and NPHP-4 proteins play important and redundant roles in facilitating ciliary sensory signal transduction.
Andrew R Jauregui; Maureen M Barr
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Experimental cell research     Volume:  305     ISSN:  0014-4827     ISO Abbreviation:  Exp. Cell Res.     Publication Date:  2005 May 
Date Detail:
Created Date:  2005-04-08     Completed Date:  2005-06-16     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0373226     Medline TA:  Exp Cell Res     Country:  United States    
Other Details:
Languages:  eng     Pagination:  333-42     Citation Subset:  IM    
Laboratory of Genetics, University of Wisconsin, School of Pharmacy, 777 Highland Avenue, Madison, WI 53705, USA.
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MeSH Terms
Caenorhabditis elegans / physiology*
Caenorhabditis elegans Proteins / analysis,  genetics,  physiology*
Cilia / chemistry,  physiology*
Green Fluorescent Proteins / analysis,  genetics
Membrane Proteins / analysis,  metabolism
Neurons, Afferent / chemistry,  metabolism*
Sequence Deletion / genetics
Signal Transduction
TRPP Cation Channels
Grant Support
Reg. No./Substance:
0/Caenorhabditis elegans Proteins; 0/Membrane Proteins; 0/TRPP Cation Channels; 0/enhanced green fluorescent protein; 0/nephrocystin 1, C elegans; 0/nephrocystin 4, C elegans; 0/polycystic kidney disease 2 protein; 147336-22-9/Green Fluorescent Proteins

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