Deregulation of Pax-2 expression in transgenic mice generates severe kidney abnormalities

Nature. 1993 Mar 4;362(6415):65-7. doi: 10.1038/362065a0.


The Pax genes comprise a family of transcription factors active in specific tissues during embryonic development and are associated with at least three developmental mutations in mouse and man. In the developing kidney, Pax-2 is expressed in the induced mesenchyme, in the ureter epithelium, and in early epithelial structures derived from the mesenchyme. Pax-2 expression is repressed upon terminal differentiation of the renal tubule epithelium, but persists in the undifferentiated epithelium of human Wilms' tumours. We have produced a dominant gain-of-function mutation in transgenic mice by deregulating the expression of the mouse Pax-2 gene. The data obtained with four independently derived transgenic embryos and with one transgenic line demonstrate that deregulated Pax-2 expression results in histologically abnormal and dysfunctional renal epithelium with properties similar to congenital nephrotic syndrome. Thus, repression of Pax-2 is required for normal kidney development and persistent expression of Pax-2 may restrict the differentiation potential of renal epithelial cells.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Blood Urea Nitrogen
  • Cadherins / analysis
  • Cytomegalovirus / genetics
  • DNA-Binding Proteins / analysis
  • DNA-Binding Proteins / genetics*
  • Female
  • Gene Expression Regulation*
  • Genes, Viral
  • Humans
  • Immunohistochemistry
  • Kidney / abnormalities*
  • Kidney / cytology
  • Kidney / pathology
  • Male
  • Mice
  • Mice, Transgenic
  • PAX2 Transcription Factor
  • Potassium / blood
  • Promoter Regions, Genetic
  • Reference Values
  • Transcription Factors / analysis
  • Transcription Factors / genetics*


  • Cadherins
  • DNA-Binding Proteins
  • PAX2 Transcription Factor
  • PAX2 protein, human
  • Pax2 protein, mouse
  • Transcription Factors
  • Potassium