title: Differential tissue distribution of the Invs gene product inversin.
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.
authors: Department of Nephrology and Hypertension, University Hospital of Essen, Hufelandstrasse 55, 45122 Essen, Germany. jens.nuernberger@uni-essen.de
authors: Jens
authors: J
authors: Nürnberger
authors: Rosmaria
authors: R
authors: Kavapurackal
authors: Shi-Jun
authors: SJ
authors: Zhang
authors: Anabelle
authors: A
authors: Opazo Saez
authors: Gerd
authors: G
authors: Heusch
authors: Thomas
authors: T
authors: Philipp
authors: Frank
authors: F
authors: Pietruck
authors: Andreas
authors: A
authors: Kribben
mesh_terms: D000199:Actins / Q000378:metabolism; D000818:Animals; D004247:DNA / Q000378:metabolism; D007668:Kidney / Q000378:metabolism*; D051379:Mice; D018613:Microscopy, Confocal; D014018:Tissue Distribution; D014157:Transcription Factors / Q000378:metabolism*
chemical_list: D000199:Actins; C491947:Invs protein, mouse; D014157:Transcription Factors; D004247:DNA