UNLABELLED: Ureteropelvic junction obstruction (UPJO) is the most common congenital anomaly of the urinary tract. Evidence has shown that BMP4 and Id2 play crucial roles in nephrogenesis, alterations of which may cause ureteral developmental anomalies. Here, we directly sequenced the coding sequences in BMP4 and Id2 genes of 108 unrelated Chinese patients with ureteropelvic junction stenosis. One missense mutation c.485G> A (p.R162Q) in BMP4 and two synonymous mutations (c.1167T> C in BMP4 and c.108A> G in Id2) were detected in three cases. None of these variations were present in the 150 normal controls. Comparative amino acid sequence alignments of BMP4 in humans and other vertebrate orthologs show that p.R162 located to a highly conserved amino acid residue. Moreover, computational analysis predicted that R162Q probably infect the function of BMP4 protein. CONCLUSION: The mutation c.485G> A in BMP4 might be one of the causes of human UPJO. Further functional studies are required to validate the association between this variation and UPJO. Otherwise, Id2 mutations do not seem to be involved in this disease.
UNLABELLED: Ureteropelvic junction obstruction (UPJO) is the most common congenital anomaly of the urinary tract. Evidence has shown that BMP4 and Id2 play crucial roles in nephrogenesis, alterations of which may cause ureteral developmental anomalies. Here, we directly sequenced the coding sequences in BMP4 and Id2 genes of 108 unrelated Chinese patients with ureteropelvic junction stenosis. One missense mutation c.485G> A (p.R162Q) in BMP4 and two synonymous mutations (c.1167T> C in BMP4 and c.108A> G in Id2) were detected in three cases. None of these variations were present in the 150 normal controls. Comparative amino acid sequence alignments of BMP4 in humans and other vertebrate orthologs show that p.R162 located to a highly conserved amino acid residue. Moreover, computational analysis predicted that R162Q probably infect the function of BMP4 protein. CONCLUSION: The mutation c.485G> A in BMP4 might be one of the causes of human UPJO. Further functional studies are required to validate the association between this variation and UPJO. Otherwise, Id2 mutations do not seem to be involved in this disease.
Authors: A Kinoshita; T Saito; H Tomita; Y Makita; K Yoshida; M Ghadami; K Yamada; S Kondo; S Ikegawa; G Nishimura; Y Fukushima; T Nakagomi; H Saito; T Sugimoto; M Kamegaya; K Hisa; J C Murray; N Taniguchi; N Niikawa; K Yoshiura Journal: Nat Genet Date: 2000-09 Impact factor: 38.330
Authors: Preeti Bakrania; Maria Efthymiou; Johannes C Klein; Alison Salt; David J Bunyan; Alex Wyatt; Chris P Ponting; Angela Martin; Steven Williams; Victoria Lindley; Joanne Gilmore; Marie Restori; Anthony G Robson; Magella M Neveu; Graham E Holder; J Richard O Collin; David O Robinson; Peter Farndon; Heidi Johansen-Berg; Dianne Gerrelli; Nicola K Ragge Journal: Am J Hum Genet Date: 2008-01-31 Impact factor: 11.025
Authors: Richard N Wang; Jordan Green; Zhongliang Wang; Youlin Deng; Min Qiao; Michael Peabody; Qian Zhang; Jixing Ye; Zhengjian Yan; Sahitya Denduluri; Olumuyiwa Idowu; Melissa Li; Christine Shen; Alan Hu; Rex C Haydon; Richard Kang; James Mok; Michael J Lee; Hue L Luu; Lewis L Shi Journal: Genes Dis Date: 2014-09