Cell and Tissue Research

, Volume 323, Issue 1, pp 147–155

Differential tissue distribution of the Invs gene product inversin

  • Jens Nürnberger
  • Rosmaria Kavapurackal
  • Shi-Jun Zhang
  • Anabelle Opazo Saez
  • Gerd Heusch
  • Thomas Philipp
  • Frank Pietruck
  • Andreas Kribben
Regular Article

Abstract

Nephronophthisis is a common genetic cause of end-stage renal disease in childhood. Recently, Invs was identified as the gene mutated in the infantile form of nephronophthisis. Humans with nephronophthisis develop a large number of extrarenal manifestations, including situs variations, anomalies of the hepatobiliary system, retinal degeneration and cerebellar ataxia. Mice homozygous for a mutation in the Invs gene (inv mouse) die during the first week after birth as a result of renal and liver failure. Although organ anomalies have been characterized in human nephronophthisis and the inv mouse, little is known about the tissue expression of the Invs gene product, inversin. We have used laser confocal microscopy of paraffin-embedded murine tissue sections to provide the first detailed characterization of the distribution of inversin in various organs. Our results show that inversin is localized to distal tubules in the kidney, hepatic bile ducts, acinar and ductal pancreatic cells, epithelial intestinal cells, splenic germinal centres, bronchiolar epithelial cells, dendrites of cerebellar Purkinje cells, retinal neural cells and spermatocytes and spermatids in the testis. The localization of inversin in distal tubules in the kidney and in extrarenal tissues suggests that the expression of this protein has an important function in a variety of organs. Further studies are required to understand the way in which mutations in the Invs gene lead to the multi-organ pathology of inv mouse and human nephronophthisis.

Keywords

Inversin Invs Nephronophthisis Polycystic kidney disease Human Mouse 

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Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • Jens Nürnberger
    • 1
  • Rosmaria Kavapurackal
    • 1
  • Shi-Jun Zhang
    • 2
  • Anabelle Opazo Saez
    • 1
  • Gerd Heusch
    • 3
  • Thomas Philipp
    • 1
  • Frank Pietruck
    • 1
  • Andreas Kribben
    • 1
  1. 1.Department of Nephrology and HypertensionUniversity Hospital of EssenEssenGermany
  2. 2.Department of Traditional Chinese Medicine, First Affiliated HospitalSun Yat-Sen UniversityGuangzhouPeople's Republic of China
  3. 3.Department of PathophysiologyUniversity Hospital of EssenEssenGermany

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