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Cystin, a novel cilia-associated protein, is disrupted in the cpk mouse model of polycystic kidney disease.

Authors: Hou, X  Mrug, M  Yoder, BK  Lefkowitz, EJ  Kremmidiotis, G  D'Eustachio, P  Beier, DR  Guay-Woodford, LM 
Citation: Hou X, etal., J Clin Invest. 2002 Feb;109(4):533-40.
Pubmed: (View Article at PubMed) PMID:11854326
DOI: Full-text: DOI:10.1172/JCI14099

The congenital polycystic kidney (cpk) mutation is the most extensively characterized mouse model of polycystic kidney disease (PKD). The renal cystic disease is fully expressed in homozygotes and is strikingly similar to human autosomal recessive PKD (ARPKD), whereas genetic background modulates the penetrance of the corresponding defect in the developing biliary tree. We now describe the positional cloning, mutation analysis, and expression of a novel gene that is disrupted in cpk mice. The cpk gene is expressed primarily in the kidney and liver and encodes a hydrophilic, 145-amino acid protein, which we term cystin. When expressed exogenously in polarized renal epithelial cells, cystin is detected in cilia, and its expression overlaps with polaris, another PKD-related protein. We therefore propose that the single epithelial cilium is important in the functional differentiation of polarized epithelia and that ciliary dysfunction underlies the PKD phenotype in cpk mice.


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CRRD Object Information
CRRD ID: 7175541
Created: 2012-12-07
Species: All species
Last Modified: 2012-12-07
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.