Genetics of kidney development

Curr Opin Nephrol Hypertens. 1996 May;5(3):282-7. doi: 10.1097/00041552-199605000-00015.


Genetic approaches have clarified the molecular basis of many different stages of kidney development with considerable clarity. By introducing targeted mutations in mice, a number o transcription growth factors have been shown to be required for early kidney tubulogenesis. Most recently, the transcription factor Pax-2, and bone morphogenetic protein-7, a growth factor, were added to the list of factors required for the early stages of kidney tubulogenesis. Compared with the defects seen in mice lacking Pax-2 or bone morphogenic protein-7, the formation of cysts in tubules is morphologically a very mild defect. Cysts are seen in many transgenic mice with overexpression of a gene in the kidney, and in some 'knockout' mice lacking a gene. Some of these genes might be involved in human cystic diseases. However, it was recently shown that the gene affected in 85% of patients with autosomal dominant polycystic kidney disease encodes a novel protein, called polycystin. This protein is very large and has a sequence suggesting multiple transmembrane domains. It extracellular domains suggest that polycystin is involved in cell-cell and cell-matrix interactions.

Publication types

  • Review

MeSH terms

  • Aging / physiology*
  • Animals
  • Genetic Techniques*
  • Growth Substances / physiology
  • Humans
  • Kidney / embryology*
  • Kidney / growth & development*
  • Polycystic Kidney Diseases / genetics
  • Protein-Tyrosine Kinases / physiology
  • Transcription Factors / physiology


  • Growth Substances
  • Transcription Factors
  • Protein-Tyrosine Kinases