Expression of Fraser syndrome genes in normal and polycystic murine kidneys

Larissa Kerecuk, David A. Long, Zahabia Ali, Corina Anders, Maria Kolatsi-Joannou, Peter J. Scambler, Adrian Woolf

    Research output: Contribution to journalArticlepeer-review


    Background Fraser syndrome (FS) features renal agenesis and cystic kidneys. Mutations of FRAS1 (Fraser syndrome 1) and FREM2 (FRAS1-related extracellular matrix protein 2) cause FS. They code for basement membrane proteins expressed in metanephric epithelia where they mediate epithelial/mesenchymal signalling. Little is known about whether and where these molecules are expressed in more mature kidneys. Methods In healthy and congenital polycystic kidney (cpk) mouse kidneys we sought Frem2 expression using a LacZ reporter gene and quantified Fras family transcripts. Fras1 immunohistochemistry was undertaken in cystic kidneys from cpk mice and PCK (Pkhd1 mutant) rats (models of autosomal recessive polycystic kidney disease) and in wildtype metanephroi rendered cystic by dexamethasone. Results Nascent nephrons transiently expressed Frem2 in both tubule and podocyte epithelia. Maturing and adult collecting ducts also expressed Frem2. Frem2 was expressed in cpk cystic epithelia although Frem2 haploinsufficiency did not significantly modify cystogenesis in vivo. Fras1 transcripts were significantly upregulated, and Frem3 downregulated, in polycystic kidneys versus the non-cystic kidneys of littermates. Fras1 was immunodetected in cpk, PCK and dexamethasone-induced cyst epithelia. Conclusions These descriptive results are consistent with the hypothesis that Fras family molecules play diverse roles in kidney epithelia. In future, this should be tested by conditional deletion of FS genes in nephron segments and collecting ducts. © IPNA 2012.
    Original languageEnglish
    Pages (from-to)991-998
    Number of pages7
    JournalPediatric Nephrology
    Issue number6
    Publication statusPublished - Jun 2012


    • Basement membrane
    • Cyst
    • Development
    • Fras1 . Frem2
    • LacZ
    • Reporter gene


    Dive into the research topics of 'Expression of Fraser syndrome genes in normal and polycystic murine kidneys'. Together they form a unique fingerprint.

    Cite this