Analysis of TSHZ2 and TSHZ3 genes in congenital pelvi-ureteric junction obstruction
| Autor: | Dagan Jenkins, Zoran Gucev, Xavier Caubit, Laurent Fasano, Nadica Matevska, Claire M. Lye, Feryal Cabuk, Aleksandar Dimovski, Adrian S. Woolf, Velibor Tasic |
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| Přispěvatelé: | Institut de Biologie du Développement de Marseille (IBDM), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Kırıkkale Üniversitesi |
| Rok vydání: | 2009 |
| Předmět: |
Male
Candidate gene Pathology 030232 urology & nephrology Transcription Factors/*genetics/metabolism Mice 0302 clinical medicine Missense mutation pelvi-ureteric junction obstruction ComputingMilieux_MISCELLANEOUS 0303 health sciences Republic of North Macedonia 3. Good health TSHZ3 medicine.anatomical_structure Nephrology Albania Ureteral Obstruction/*congenital/ethnology/*genetics Female Renal pelvis Ureteral Obstruction medicine.medical_specialty Macedonia (Republic) Molecular Sequence Data Mutation Missense Missense/genetics [SDV.BC]Life Sciences [q-bio]/Cellular Biology Biology Vesicoureteral reflux Ureter/embryology/metabolism 03 medical and health sciences Ureter Internal medicine medicine Animals Humans Amino Acid Sequence Polymorphism Hydronephrosis 030304 developmental biology Genetic/genetics Transplantation Teashirt genes Polymorphism Genetic Animal medicine.disease Repressor Proteins Disease Models Animal Endocrinology Case-Control Studies Disease Models Mutation Repressor Proteins/*genetics/metabolism Transcription Factors |
| Zdroj: | Nephrology Dialysis Transplantation Nephrology Dialysis Transplantation, Oxford University Press (OUP), 2010, 25 (1), pp.54-60. ⟨10.1093/ndt/gfp453⟩ Nephrology Dialysis Transplantation, 2010, 25 (1), pp.54-60. ⟨10.1093/ndt/gfp453⟩ |
| ISSN: | 1460-2385 0931-0509 |
| DOI: | 10.1093/ndt/gfp453⟩ |
| Popis: | Background. Congenital pelvi-ureteric junction obstruction (PUJO) affects 0.3% of human births. It may result from aberrant smooth muscle development in the renal pelvis, resulting in hydronephrosis. Mice that are null mutant for the Teashirt3 (Tshz3) gene exhibit congenital PUJO with defective smooth muscle differentiation and absent peristalsis in the proximal ureter. Methods. Given the phenotype of Tshz3 mutant mice, we considered that Teashirt genes, which code for a family of transcription factors, might represent candidate genes for human PUJO. To evaluate this possibility, we used in situ hydridization to analyse the three mammalian Tshz genes in mouse embryonic ureters and determined whether TSHZ3 was expressed in the human embryonic ureter. TSHZ2 and TSHZ3 were sequenced in index cases with non-syndromic PUJO. Results. Tshz2 and Tshz3 genes were detected in mouse ureters and TSHZ3 was expressed in the human embryonic renal pelvis. Direct sequencing of TSHZ2 and TSHZ3 did not identify any mutations in an initial cohort of 48 PUJO index cases, excluding these genes as a major cause of this condition. A polymorphic missense change (E469G) in TSHZ3 was identified at a residue highly conserved throughout evolution in all Teashirt proteins, although subsequently no significant difference between the E469G allele frequency in Albanian and Macedonian PUJO index cases (3.2%) versus 633 control individuals (1.7%) was found (P = 0.18). Conclusions. Mutations in TSHZ2 and TSHZ3 are not a major cause of PUJO, at least in Albanian and Macedonian populations. Expression of these genes in the human fetal ureter emphasizes the importance of analysing these genes in other groups of patients with renal tract malformations. |
| Databáze: | OpenAIRE |
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