PMID:15269167

Citation	Sun, Z, Amsterdam, A, Pazour, GJ, Cole, DG, Miller, MS and Hopkins, N (2004) A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney. Development 131:4085-93
Abstract	Polycystic kidney disease (PKD) is a common human genetic illness. It is characterized by the formation of multiple kidney cysts that are thought to result from over-proliferation of epithelial cells. Zebrafish larvae can also develop kidney cysts. In an insertional mutagenesis screen in zebrafish, we identified 12 genes that can cause cysts in the glomerular-tubular region when mutated and we cloned 10 of these genes. Two of these genes, vhnf1 (tcf2) and pkd2, are already associated with human cystic kidney diseases. Recently, defects in primary cilia have been linked to PKD. Strikingly, three out of the 10 genes cloned in this screen are homologues of Chlamydomonas genes that encode components of intraflagellar transport (IFT) particles involved in cilia formation. Mutation in a fourth blocks ciliary assembly by an unknown mechanism. These results provide compelling support for the connection between cilia and cystogenesis. Our results also suggest that lesions in genes involved in cilia formation and function are the predominant cause of cystic kidney disease, and that the genes identified here are excellent candidates for novel human PKD genes.
Links	PubMed Online version:10.1242/dev.01240
Keywords	Animals; Cilia/genetics; Cilia/metabolism; Kidney/cytology; Kidney/embryology; Kidney/metabolism; Molecular Sequence Data; Mutagenesis, Insertional; Mutation; Polycystic Kidney Diseases/embryology; Polycystic Kidney Diseases/genetics; Polycystic Kidney Diseases/metabolism; Zebrafish/genetics; Zebrafish/metabolism
edit table

Annotations

Gene product	Qualifier	GO ID	GO term name	Evidence Code	with/from	Aspect	Notes	Status
edit table

References

See Help:References for how to manage references in GONUTS.