Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice

Hum Mol Genet. 2007 Dec 15;16(24):3188-96. doi: 10.1093/hmg/ddm299. Epub 2007 Oct 11.

Abstract

Autosomal dominant polycystic kidney disease, caused by mutations in the PKD1 gene, is characterized by progressive deterioration of kidney function due to the formation of thousands of cysts leading to kidney failure in mid-life or later. How cysts develop and grow is currently unknown, although extensive research revealed a plethora of cellular changes in cyst lining cells. We have constructed a tamoxifen-inducible, kidney epithelium-specific Pkd1-deletion mouse model. Upon administration of tamoxifen to these mice, a genomic fragment containing exons 2-11 of the Pkd1-gene is specifically deleted in the kidneys and cysts are formed. Interestingly, the timing of Pkd1-deletion has strong effects on the phenotype. At 1 month upon gene disruption, adult mice develop only a very mild cystic phenotype showing some small cysts and dilated tubules. Young mice, however, show massive cyst formation. In these mice, at the moment of gene disruption, cell proliferation takes place to elongate the nephron. Our data indicate that Pkd1 gene deficiency does not initiate sufficient autonomous cell proliferation leading to cyst formation and that additional stimuli are required. Furthermore, we show that one germ-line mutation of Pkd1 is already associated with increased proliferation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Animals
  • Animals, Newborn
  • Animals, Suckling
  • Cell Proliferation
  • Cysts / genetics
  • Cysts / pathology
  • Gene Deletion
  • Gene Expression Regulation
  • Germ-Line Mutation / physiology
  • Kidney / growth & development*
  • Kidney / metabolism
  • Kidney / pathology
  • Lactation / drug effects
  • Mice
  • Mice, Transgenic
  • Models, Biological
  • Organ Specificity
  • Polycystic Kidney Diseases / chemically induced
  • Polycystic Kidney Diseases / embryology
  • Polycystic Kidney Diseases / genetics*
  • TRPP Cation Channels* / metabolism
  • Tamoxifen / toxicity
  • Time Factors

Substances

  • TRPP Cation Channels
  • polycystic kidney disease 1 protein
  • Tamoxifen