Mating worms and the cystic kidney: Caenorhabditis elegans as a model for renal disease.
Polycystic kidney disease (PKD) is caused by a group of variably inherited human disorders that are major causes of end-stage renal disease in both children and adults. The genetic culprits responsible for autosomal-dominant PKD (ADPKD), the polycystins, have been identified, yet still little is known about the molecular mechanisms that result in the disease phenotype. Polycystin homologs have been isolated in the model genetic organism Caenorhabditis elegans and, interestingly, play a specific role in C. elegans male mating behavior. Despite the recruitment of the polycystins for divergent functions in worms and humans it appears that the fundamental molecular and genetic interactions of these genes are evolutionarily conserved. In addition, studies in the worm have contributed to an understanding of the emerging role for cilia in the function of the polycystin pathway, expanding a promising frontier in PKD research. C. elegans has also been used to identify a gene family which may have significance for understanding the formation and maintenance of renal tubules.
Lipton
Jonathan
J
Department of Pediatrics, Children's Hospital at Montefiore, 3415 Bainbridge Avenue, New York, NY 10467, USA. jlipton@montefiore.org
D000818:Animals; D017173:Caenorhabditis elegans / Q000235:genetics* / Q000502:physiology; D029742:Caenorhabditis elegans Proteins / Q000235:genetics; D002923:Cilia / Q000235:genetics / Q000502:physiology; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics* / Q000503:physiopathology; D011506:Proteins / Q000235:genetics*; D012726:Sexual Behavior, Animal; D015398:Signal Transduction; D050396:TRPP Cation Channels
D029742:Caenorhabditis elegans Proteins; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; D011506:Proteins; D050396:TRPP Cation Channels; C427364:osm-5 protein, C elegans