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Curr Opin Nephrol Hypertens. 1996 May;5(3):282-7.

Genetics of kidney development.

Author information

  • Department of Animal Physiology, Uppsala University, Sweden.

Abstract

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.

PMID:
8737865
[PubMed - indexed for MEDLINE]
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