PMID: 8954795Dec 1, 1996Paper

Structure, sequence, and chromosome 19 localization of human USF2 and its rearrangement in a patient with multicystic renal dysplasia

Genomics
P M GroenenW J Van de Ven

Abstract

The precise etiology of hydronephrosis caused by pelvi-ureteric junction obstruction is not yet known but there is convincing evidence for a genetic cause, with linkage analysis predicting a hereditary hydronephrosis locus on chromosome 6p. In previous studies, a patient was described with a de novo autosomal t(6;19)(p21;q13.1) translocation and suffering from bilateral multicystic renal dysplasia (MRD) caused by a bilateral complete pelvi-ureteric junction obstruction. In an effort to elucidate a possible correlation between this translocation and hereditary hydronephrosis, we have carried out an extensive molecular characterization of a chromosome 19 cosmid clone previously identified as spanning the translocation in this unique index case. DNA sequencing across a 9.2-kb BamHI fragment that straddles the translocation indicates the presence of DNA sequences with a high degree of similarity to the USF2 gene that encodes the transcription factor USF2 (upstream stimulator factor 2). The genomic structure of USF2 consists of 10 exons distributed over a DNA region of about 11 kb. The putative promoter region is GC-rich and lacks TATA and CCAAT boxes, suggesting that expression of the USF2 gene may be controlled by a typical housek...Continue Reading

Citations

Jan 17, 2008·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Maria Luisa ConteSilverio Perrotta
Sep 12, 2009·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Dagan JenkinsAdrian S Woolf
Dec 17, 2009·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Shazia AshrafFriedhelm Hildebrandt
Jun 12, 2012·International Journal of Nephrology·Ihor V Yosypiv
Sep 16, 2005·Pigment Cell Research·Sébastien Corre, Marie-Dominique Galibert
Apr 18, 2007·Prenatal Diagnosis·Ivana BabićMiljenko Kapović
Jul 28, 2004·Gene·Shiqing Yan, Bonnie F Sloane
Aug 4, 2005·Human Molecular Genetics·Jussi NaukkarinenLeena Peltonen
Apr 15, 2005·Journal of the American Society of Nephrology : JASN·Simone Sanna-CherchiAli G Gharavi
Nov 21, 2009·Journal of the American Society of Nephrology : JASN·Claire M LyeAdrian S Woolf
Jan 3, 2006·Médecine sciences : M/S·Sébastien Corre, Marie-Dominique Galibert
Aug 13, 2005·Fetal and Pediatric Pathology·Maria M Rodriguez

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