PURPOSE: The uroplakin III (UPIII) knockout mouse provides a good model for human primary vesicoureteral reflux (VUR). Since to our knowledge no causative genes in human VUR have been identified to date, we wondered whether the UPIII gene might be involved in human primary VUR. Therefore, the UPIII gene was sequenced to see if any mutations could be detected in patients with primary VUR. MATERIALS AND METHODS: DNA was obtained from 25 patients who were surgically treated for primary VUR. Each patient had a family history positive for VUR. RESULTS: No pathogenic mutations were identified in patient DNA. One missense mutation (Ala154Pro) not reported in the human genome data base was observed. However, because its frequency in the patient and control populations was similar, it was interpreted as a polymorphism. CONCLUSIONS: Although mutations in regulatory elements affecting gene function cannot be excluded, the UPIII gene does not seem to have a major role in primary VUR in humans.
PURPOSE: The uroplakin III (UPIII) knockout mouse provides a good model for human primary vesicoureteral reflux (VUR). Since to our knowledge no causative genes in humanVUR have been identified to date, we wondered whether the UPIII gene might be involved in human primary VUR. Therefore, the UPIII gene was sequenced to see if any mutations could be detected in patients with primary VUR. MATERIALS AND METHODS: DNA was obtained from 25 patients who were surgically treated for primary VUR. Each patient had a family history positive for VUR. RESULTS: No pathogenic mutations were identified in patient DNA. One missense mutation (Ala154Pro) not reported in the human genome data base was observed. However, because its frequency in the patient and control populations was similar, it was interpreted as a polymorphism. CONCLUSIONS: Although mutations in regulatory elements affecting gene function cannot be excluded, the UPIII gene does not seem to have a major role in primary VUR in humans.
Authors: H Kelly; C M Molony; J M Darlow; M E Pirker; A Yoneda; A J Green; P Puri; D E Barton Journal: J Med Genet Date: 2007-07-27 Impact factor: 6.318
Authors: Albertien M van Eerde; Karen Duran; Els van Riel; Carolien G F de Kovel; Bobby P C Koeleman; Nine V A M Knoers; Kirsten Y Renkema; Henricus J R van der Horst; Arend Bökenkamp; Johanna M van Hagen; Leonard H van den Berg; Katja P Wolffenbuttel; Joop van den Hoek; Wouter F Feitz; Tom P V M de Jong; Jacques C Giltay; Cisca Wijmenga Journal: PLoS One Date: 2012-04-27 Impact factor: 3.240
Authors: Simone Sanna-Cherchi; Gianluca Caridi; Patricia L Weng; Francesco Scolari; Francesco Perfumo; Ali G Gharavi; Gian Marco Ghiggeri Journal: Pediatr Nephrol Date: 2007-04-17 Impact factor: 3.714
Authors: Xiang-Tian Kong; Fang-Ming Deng; Ping Hu; Feng-Xia Liang; Ge Zhou; Anna B Auerbach; Nancy Genieser; Peter K Nelson; Edith S Robbins; Ellen Shapiro; Bechara Kachar; Tung-Tien Sun Journal: J Cell Biol Date: 2004-12-20 Impact factor: 10.539
Authors: Shalini Mitra; Stefan Lukianov; Wily G Ruiz; Chiara Cianciolo Cosentino; Subramaniam Sanker; Linton M Traub; Neil A Hukriede; Gerard Apodaca Journal: PLoS One Date: 2012-07-25 Impact factor: 3.240
Authors: Albertien M van Eerde; Bobby P C Koeleman; Jiddeke M van de Kamp; Tom P V M de Jong; Cisca Wijmenga; Jacques C Giltay Journal: Pediatr Nephrol Date: 2007-05-12 Impact factor: 3.714