Functional analysis of BMP4 mutations identified in pediatric CAKUT patients

Pediatric Nephrology

Volumn 24, Issue 12, 2009, Pages 2361-2368

  Tabatabaeifar, Mansoureh ^a   Schlingmann, Karl Peter ^b   Litwin, M ^h   Emre, S ^h   Bakkaloglu, A ^h   Mehls, O ^h   Antignac, C ^h   Schaefer, F ^h   Weber, Stefanie ^a,g   Anarat, A ^h   Ozaltin, F ^h   Peco Antic, A ^h   Querfeld, U ^h   Gellermann, J ^h   Sallay, P ^h   Drozdz, D ^h   Bonzel, K E ^h   Wingen, A M ^h   Zurowska, A ^h   Balasz, I ^h   Perfumo, F ^h   Canepa, A ^h   Muller Wiefel D E ^h   Zepf, K ^h   Offner, G ^h   Enke, B ^h   Wuhl E ^h   Hadtstein, C ^h   Berg, U ^h   Celsi, G ^h   Sirin, A ^h   Bilge, I ^h   Caliskan S ^h   Mir, S ^h   Serdaroglu, E ^h   Greiner, C ^h   Eichstadt H ^h   Wygoda, S ^h   Hohbach Hohenfellner, K ^h   Jeck, N ^h   Klaus, G ^h   Appiani, A ^h   Ardissino, G ^h   Testa, S ^h   Montini, G ^h   Niaudet, P ^h   Charbit, M ^h   Dusek, J ^h   Caldas Afonso, A ^h   Teixeira, A ^h   Picca, S ^h   Matteucci, C ^h   Wigger, M ^h   Fischbach, M ^h   Terzic, J ^h   Fydryk, J ^h   Urasinski, T ^h   Coppo, R ^h   Peruzzi, L ^h   Jankauskiene, A ^h   Abuauba, M ^h   Grenda, R ^h   Arbeiter, K ^h   Neuhaus, T J ^h   more..

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b UNIVERSITY HOSPITAL MARBURG   (Germany)

^c CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^d ISTANBUL UNIVERSITY   (Turkey)

^e HACETTEPE UNIVERSITY   (Turkey)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

^g UNIVERSITY HOSPITAL ESSEN   (Germany)

^h NONE

Author keywords

Abnormal protein complex; Bone morphogenetic protein 4; CAKUT; Kidney development; Subcellular localization

Indexed keywords

BONE MORPHOGENETIC PROTEIN 4; MESSENGER RNA;

ANIMAL CELL; ARTICLE; CHRONIC KIDNEY FAILURE; CLINICAL ARTICLE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOCATION; HUMAN; KIDNEY AGENESIS; KIDNEY DUPLICATION; KIDNEY HYPOPLASIA; KIDNEY MALFORMATION; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONHUMAN; PRIORITY JOURNAL; PROTEIN DEGRADATION;

EID: 70350692080     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-009-1287-6     Document Type: Article

References (31)

1. Woolf AS (2000) A molecular and genetic view of human renal and urinary tract malformations. Kidney Int 58:500-512
2. Weber S, Taylor JC, Winyard P, Baker KF, Sullivan-Brown J, Schild R, Knüppel T, Zurowska AM, Caldas-Alfonso A, Litwin M, Emre S, Ghiggeri GM, Bakkaloglu A, Mehls O, Antignac C, Network E, Schaefer F, Burdine RD (2008) SIX2 and BMP4 mutations associate with anomalous kidney development. J Am Soc Nephrol 19:891-903
3. Miyazaki Y, Oshima K, Fogo A, Hogan BL, Ichikawa I (2000) Bone morphogenetic protein 4 regulates the budding site and elongation of the mouse ureter. J Clin Invest 105:863-873
4. Hoshino T, Shimizu R, Ohmori S, Nagano M, Pan X, Ohneda O, Khandekar M, Yamamoto M, Lim KC, Engel JD (2008) Reduced BMP4 abundance in Gata2 hypomorphic mutant mice result in uropathies resembling human CAKUT. Genes Cells 13:159-170
5. Hogan BL (1996) Bone morphogenetic proteins: Multifunctional regulators of vertebrate development. Genes Dev 10:1580-1594
6. Hogan BL (1996) Bone morphogenetic proteins in development. Curr Opin Genet Dev 6:432-438
7. Ducy P, Karsenty G (2000) The family of bone morphogenetic proteins. Kidney Int 57:2207-2214
8. Dale L, Jones M (1999) BMP signaling in early Xenopus development. BioEssays 21:751-760
9. Shum L, Nuckolls G (2002) The life cycle of chondrocytes in the developing skeleton. Arthritis Res 4:94-106
10. von Bubnoff A, Cho KW (2001) Intracellular BMP signaling regulation in vertebrates: Pathway or network? Dev Biol 239:1-14
11. Piscione TD, Rosenblum ND (2002) The molecular control of renal branching morphogenesis: Current knowledge and emerging insights. Differentiation 70:227-246
12. Cui Y, Hackenmiller R, Berg L, Jean F, Nakayama T, Thomas G, Christian JL (2001) The activity and signaling range of mature BMP-4 is regulated by sequential cleavage at two sites within the prodomain of the precursor. Genes Dev 15:2797-2802
13. Degnin C, Jean F, Thomas G, Christian JL (2004) Cleavage within the prodomain direct intracellular trafficking and degradation of mature bone morphogenetic protein-4. Mol Biol Cell 15:5012-5020
14. Annes AP, Munger JS, Rifkin DB (2003) Making sense of latent TGFβ activation. J Cell Sci 116:217-224
15. Sunyaev S, Ramensky V, Koch I, Lathe W 3rd, Kondrashov AS, Bork P (2001) Prediction of deleterious human alleles. Hum Mol Genet 10:591-597
16. Ramensky V, Bork P, Sunyaev S (2002) Human non-synonymous SNPs: Server and survey. Nucleic Acids Res 30:3894-3900
17. Ng PC, Henikoff S (2003) SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 31:3812-3814
18. Pereira RC, Rydziel S, Canalis E (2000) Bone morphogenetic protein-4 regulates its own expression in cultured osteoblast. J Cell Physiol 182:239-246
19. Feng JQ, Chen D, Cooney AJ, Tsai MJ, Harris MA, Tsai SY, Feng M, Mundy GR, Harris SE (1995) The mouse bone morphogenetic protein-4 gene. J Biol Chem 270:28364-28373
20. Ebera S, Kawasaki S, Nakamura I, Tsutsumimoto T, Nakayama K, Nikaido T, Takaoka K (1997) Transcriptional regulation of the mBMP-4 gene through an E-box in the 5′-flanking promotor region involving USF. Biochem Biophys Res Commun 240:136-141
21. Shore EM, Xu M-Q, Shah PB, Janoff HB, Hahn GV, Deardorff MA, Sovinsky L, Apinner NB, Zasloff MA, Wozney JM, Kaplan FS (1998) The human bone morphogenetic protein 4 (BMP-4) gene: Molecular structure and transcriptional regulation. Calcif Tissue Int 63:221-229
22. Greenberg ME, Belasco JG (1993) Control of decay of labile protooncogene and cytokine mRNAs. In: Belasco J, Brawerman G (eds) Control of messenger RNA stability. Academic Press, New York, pp 199-215
23. Delany AM, Canalis E (1998) Basic fibroblast growth factor destabilizes osteonectin mRNA in osteoblasts. Am J Physiol 274:C734-740
24. Di Pasquale E, Beck-Peccoz P, Persani L (2004) Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (Bmp15) gene. Am J Hum Genet 75:106-111
25. Haigh NG, Johnson AE (2002) Protein sorting at the membrane of the endoplasmic reticulum. In: Dalbey RE, von Heijine G (eds) Protein targeting, transport and translocation. Academic Press, London, pp 74-106
26. Ellgaard L, Molinari M, Helenius A (1999) Setting the standards: Quality control in the secretory pathway. Science 286:1882-1888
27. Kostova Z, Wolf DH (2003) From whom the bell tolls: Protein quality control of the endoplasmic reticulum and the ubiquitin-proteasome connection. EMBO J 22:2309-2317
28. Trombetta ES, Parodi AJ (2003) Quality control and protein folding in the secretory pathway. Annu Rev Cell Dev Biol 19:649-676
29. Buscà R, Martinez M, Vilella E, Pognonec P, Deeb S, Auwerx J, Reina M, Vilaro S (1996) The mutation Gly142Glu in human lipoprotein lipase produces a missorted protein that is diverted to lysosomes. J Biol Chem 271:2139-2146
30. Suzuki S, Marazita ML, Cooper ME, Miwa N, Hing A, Jugessur A, Natsume N, Shimozato K, Ohbayashi N, Suzuki Y, Niimi T, Minami K, Yamamoto M, Altannamar TJ, Erkhembaatar T, Furukawa H, Daack-Hirsch S, L'heureux J, Brandon CA, Weinberg SM, Neiswanger K, Deleyiannis FW, de Salamanca JE, Vieira AR, Lidral AC, Martin JF, Murray JC (2009) Mutation in BMP4 are associated with subepithelial, microform and overt cleft lip. Am J Hum Genet 84:406-411
31. Bakrania P, Efthymiou M, Klein JC, Salt A, Bunyan DJ, Wyatt A, Ponting CP, Martin A, Williams S, Lindley V, Gilmore J, Restori J, Robson AG, Neveu MM, Holder GE, Collin JR, Robinson DO, Farndon P, Johansen-Berg H, Gerrelli D, Ragge NK (2008) Mutation in BMP4 cause eye, brain and digit developmental anomalies: Overlap between the BMP4 and hedgehog signaling pathways. Am J Hum Genet 82:304-3192