Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?

Nat Rev Genet. 2005 Dec;6(12):928-40. doi: 10.1038/nrg1727.

Abstract

Cystic kidney diseases are among the most frequent lethal genetic diseases. Positional cloning of novel cystic kidney disease genes revealed that their products (cystoproteins) are expressed in sensory organelles called primary cilia, in basal bodies or in centrosomes. Primary cilia link mechanosensory, visual, osmotic, gustatory and other stimuli to mechanisms of cell-cycle control and epithelial cell polarity. The ciliary expression of cystoproteins explains why many other organs might be also affected in patients with cystic kidney disease. Protein-protein interactions among cystoproteins, and their strong evolutionary conservation, provide a basis for a multidisciplinary approach to unravelling the novel signalling mechanisms that are involved in this disease group.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Centrosome / metabolism*
  • Cilia / metabolism*
  • Evolution, Molecular*
  • Gene Expression*
  • Humans
  • Kidney Diseases, Cystic / genetics*
  • Kidney Diseases, Cystic / metabolism
  • Phenotype*
  • Proteins / genetics
  • Proteins / metabolism*
  • Signal Transduction / genetics*
  • Species Specificity

Substances

  • Proteins