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Cystin, a novel cilia-associated protein, is disrupted in the cpk mouse model of polycystic kidney disease
Xiaoying Hou, … , David R. Beier, Lisa M. Guay-Woodford
Xiaoying Hou, … , David R. Beier, Lisa M. Guay-Woodford
Published February 15, 2002
Citation Information: J Clin Invest. 2002;109(4):533-540. https://doi.org/10.1172/JCI14099.
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Article Genetics

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

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Abstract

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.

Authors

Xiaoying Hou, Michal Mrug, Bradley K. Yoder, Elliot J. Lefkowitz, Gabriel Kremmidiotis, Peter D’Eustachio, David R. Beier, Lisa M. Guay-Woodford

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Figure 1

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Integrated genetic and physical map of the cpk candidate interval. Recom...
Integrated genetic and physical map of the cpk candidate interval. Recombination analyses refined the cpk locus to an approximately 100-kb interval, centered on D12Mit12 and delimited by 221A10SP6 and Rrm2 (indicated in bold italics; a). These data positioned cpk on a single BAC, 221A10, within our yeast and bacterial artificial cromosome (YAC/BAC)-based physical map (b). Computational analyses identified six putative transcriptional units within the cpk interval, and each predicted gene corresponded, at least in part, to a mouse UniGene cluster (c).

Copyright © 2022 American Society for Clinical Investigation
ISSN: 0021-9738 (print), 1558-8238 (online)

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