Analysis of TSHZ2 and TSHZ3 genes in congenital pelvi-ureteric junction obstruction
Yükleniyor...
Tarih
2010
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Oxford Univ Press
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
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.
Açıklama
Tasic, Velibor/0000-0002-3377-1245; Woolf, Adrian/0000-0001-5541-1358; Matevska-Geshkovska, Nadica/0000-0001-6222-8973; Lye, Claire/0000-0001-9759-3700
Anahtar Kelimeler
pelvi-ureteric junction obstruction, Teashirt genes
Kaynak
Nephrology Dialysis Transplantation
WoS Q Değeri
Q1
Scopus Q Değeri
Q1
Cilt
25
Sayı
1
Künye
Dagan Jenkins, Xavier Caubit, Aleksandar Dimovski, Nadica Matevska, Claire M. Lye, Feryal Cabuk, Zoran Gucev, Velibor Tasic, Laurent Fasano, Adrian S. Woolf, (2010),Analysis of TSHZ2 and TSHZ3 genes in congenital pelvi-ureteric junction obstruction , Nephrology Dialysis Transplantation, 25(1), 54–60.
