Mutations in Uroplakin IIIA Are a Rare Cause of Renal Hypodysplasia in Humans

American Journal of Kidney Diseases

Volumn 47, Issue 6, 2006, Pages 1004-1012

  Schönfelder, Eva Maria ^a,b,c,d,e,f   Knüppel, Tanja ^a,b,c,d,e,f   Tasic, Velibor ^a,b,c,d,e,f   Miljkovic, Predrag ^a,b,c,d,e,f   Konrad, Martin ^a,b,c,d,e,f   Wühl, Elke ^a,b,c,d,e,f   Antignac, Corinne ^a,b,c,d,e,f   Bakkaloglu, Aysin ^a,b,c,d,e,f   Schaefer, Franz ^a,b,c,d,e,f   Weber, Stefanie ^a,b,c,d,e,f  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b UNIVERSITY CHILDREN S HOSPITAL   (Macedonia)

^c Inselspital ^*  (Yugoslavia)

^d UNIVERSITY OF BERN   (Switzerland)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f HACETTEPE UNIVERSITY   (Turkey)

Author keywords

de novo mutation; dysplasia; Kidney hypoplasia; mutation analysis; UPIIIA; uroplakin IIIa; vesicoureteral reflux

Indexed keywords

UROPLAKIN;

AMINO ACID SEQUENCE; ARTICLE; CHILD; CONTROLLED STUDY; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; KIDNEY DEVELOPMENT; KIDNEY DYSPLASIA; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIATRICS; PEDIGREE; PROTEIN SECONDARY STRUCTURE; ULTRASOUND; VESICOURETERAL REFLUX;

ADOLESCENT; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; HUMANS; KIDNEY; KIDNEY FAILURE, CHRONIC; MALE; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MULTICYSTIC DYSPLASTIC KIDNEY; MUTATION, MISSENSE; PEDIGREE; UROGENITAL ABNORMALITIES;

EID: 33646791894     PISSN: 02726386     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.ajkd.2006.02.177     Document Type: Article

References (28)

1. Woolf A.S., Price K.L., Scambler P.J., and Winyard P.J. Evolving concepts in human renal dysplasia. J Am Soc Nephrol 15 (2004) 998-1007
2. Limwongse C., Clarren S., and Cassidy S.B. Syndromes and malformations of the urinary tract. In: Barratt T.M., Avner E.D., and Harmon W.E. (Eds). Pediatric Nephrology. (ed 4) (1999), Lippincott, Williams & Wilkins, Baltimore, MD 427-452
3. Woolf A.S. A molecular and genetic view of human renal and urinary tract malformations. Kidney Int 58 (2000) 500-512
4. Piscione T.D., and Rosenblum N.D. The molecular control of renal branching morphogenesis. Current knowledge and emerging insights. Differentiation 70 (2002) 227-246
5. Jenkins D., Bitner-Glindzicz M., Malcolm S., et al. De novo uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure. J Am Soc Nephrol 16 (2005) 2141-2149
6. Wu X.R., Manabe J., Yu J., and Sun T.T. Large scale purification and immunolocalization of bovine uroplakins I, II and III. Molecular markers of urothelial differentiation. J Biol Chem 265 (1990) 19170-19179
7. Yu J., Manabe M., Wu X.R., Xu C., Surya B., and Sun T.T. Uroplakin I. A 27-kD protein associated with the asymmetric unit membrane of mammalian urothelium. J Cell Biol 111 (1990) 1207-1216
8. Sun T.T., Liang F.X., and Wu X.R. Uroplakins as markers of urothelial differentiation. Adv Exp Med Biol 462 (1999) 7-18
9. Wu X.R., Lin J.H., Walz T., et al. Mammalian uroplakins. A group of highly conserved urothelial differentiation-related membrane proteins. J Biol Chem 269 (1994) 13716-13724
10. Hu P., Meyers S., Liang F.X., et al. Role of membrane proteins in permeability barrier function. Uroplakin ablation elevates urothelial permeability. Am J Physiol Renal Physiol 283 (2002) F1200-F1207
11. Hu P., Deng F.M., Liang F.X., et al. Ablation of uroplakin III gene results in small urothelial plaques, urothelial leakage, and vesicoureteral reflux. J Cell Biol 151 (2000) 961-971
12. Giltay J.C., van de Meerakker J., van Amstel H.K., and de Jong T.P. No pathogenic mutations in the uroplakin III gene of 25 patients with primary vesicoureteral reflux. J Urol 171 (2004) 931-932
13. Jiang S., Gitlin J., Deng F.M., et al. Lack of major involvement of human uroplakin genes in vesicoureteral reflux. Implications for disease heterogeneity. Kidney Int 66 (2004) 10-19
14. Kelly H., Ennis S., Yoneda A., et al. Uroplakin III is not a major candidate gene for primary vesicoureteral reflux. Eur J Hum Genet 13 (2005) 500-502
15. Sanders R.C., Nussbaum A.R., and Solez K. Renal dysplasia. Sonographic findings. Radiology 167 (1998) 623-626
16. Humphries S.E., Gudnason V., Whittall R., Day I.N., and International Federation of Clinical Chemistry Scientific Division: Committee on Molecular Biology Techniques. Single-strand conformation polymorphism analysis with high throughput modifications, and its use in mutation detection in familial hypercholesterolemia. Clin Chem 43 (1997) 427-435
17. Parker M., Ashcroft R., Wilkie A.O.M., and Kent A. Ethical review of research into rare genetic disorders. BMJ 329 (2004) 288-289
18. Beffagna G., Occhi G., Nava A., et al. Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Cardiovasc Res 1 (2005) 366-373
19. Piri N., Gao Y.Q., Danciger M., Mendoza E., Fishman G.A., and Farber D.B. A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy. Ophthalmology 112 (2005) 159-166
20. Kong X.T., Deng F.M., Hu P., et al. Roles of uroplakins in plaque formation, umbrella cell enlargement, and urinary tract diseases. J Cell Biol 167 (2004) 1195-1204
21. Kyaw M.M., and Koehler P.R. Congenital multicystic kidney. Perspect Nephrol Hypertens 4 (1976) 115-123
22. Uhlenhuth E., Amin M., Harty J.I., and Howerton L.W. Infundibulopelvic dysgenesis. A spectrum of obstructive renal disease. Urology 35 (1990) 334-337
23. Fletcher J., Hu M., Berman Y., et al. Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2. J Am Soc Nephrol 16 (2005) 2754-2761
24. Tu L., Sun T.T., and Kreibich G. Specific heterodimer formation is a prerequisite for uroplakins to exit from the endoplasmic reticulum. Mol Biol Cell 13 (2002) 4221-4230
25. Hemler M.E. Specific tetraspanin functions. J Cell Biol 155 (2001) 1103-1107
26. Sakakibara K., Sato K., Yoshino K., et al. Molecular identification and characterization of Xenopus egg uroplakin III, an egg raft-associated transmembrane protein that is tyrosine-phosphorylated upon fertilization. J Biol Chem 280 (2005) 15029-15037
27. Wu X.R., and Sun T.T. Molecular cloning of a 47 kDa tissue-specific and differentiation-dependent urothelial cell surface glycoprotein. J Cell Sci 106 (1993) 31-43
28. Hasan A.K., Sato K., Sakakibara K., et al. Uroplakin III, a novel Src substrate in Xenopus egg rafts, is a target for sperm protease essential for fertilization. Dev Biol 15 (2005) 483-492