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      What PAX Genes Do in the Kidney


      Cardiorenal Medicine

      S. Karger AG

      E-Cadherin, Vimentin, PAX, Kidney development, Wilms’ tumor

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          Of the nine known PAX genes, only two (PAX2 and PAX8) are expressed in the developing kidney. Genetic evidence in mice and humans indicates that PAX2 plays a critical role in normal renal development and may sit atop a molecular cascade which unfolds during the transition from undifferentiated mesenchyme to the early stages of nephrogenesis. Less is known about the role of PAX8 in kidney development; although PAX8 is expressed in the S-shaped body and early proximal tubule, preliminary data suggest that renal morphogenesis is unaffected by its absence. In this review, we discuss the basic aspects of PAX gene structure and function and how mutations of PAX2 might interfere with structure of the developing nephron.

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

          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.

            Author and article information

            Nephron Exp Nephrol
            Cardiorenal Medicine
            S. Karger AG
            February 1998
            04 February 1998
            : 6
            : 1
            : 7-11
            Departments of Pediatrics and Experimental Medicine, McGill University, Montreal, Quebec, Canada
            20498 Exp Nephrol 1998;6:7–11
            © 1998 S. Karger AG, Basel

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            Page count
            Figures: 1, References: 20, Pages: 5
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            Cardiovascular Medicine, Nephrology

            E-Cadherin, Vimentin, Kidney development, Wilms’ tumor, PAX


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