OCRL1 mutations in dent 2 patients suggest a mechanism for phenotypic variability

Nephron - Physiology

Volumn 112, Issue 2, 2009, Pages

  Shrimpton, Antony E ^a   Hoopes Jr , Richard R ^a   Knohl, Stephen J ^a   Hueber, Paul ^a   Reed, Anita A C ^b   Christie, Paul T ^b   Igarashi, Takashi ^c   Lee, Philip ^d   Lehman, Anna ^e   White, Colin ^e   Milford, David V ^f   Sanchez, Manuel Rivero ^g   Unwin, Robert ^h   Wrong, Oliver M ^h   Thakker, Rajesh V ^b   Scheinman, Steven J ^a  

^a State University of New York Upstate Medical University: College of Medicine   (United States)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c UNIVERSITY OF TOKYO   (Japan)

^d NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^e BC CHILDREN S HOSPITAL   (Canada)

^f BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^g HOSPITAL UNIVERSITARIO PUERTA DEL MAR   (Spain)

^h ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

Cataracts; Dent 2 disease; Mental retardation; Metabolic acidosis; OCRL1; Oculocerebrorenal syndrome of Lowe; Renal proximal tubulopathy

Indexed keywords

ARTICLE; CHILD; CLCN5 GENE; CLINICAL ARTICLE; CLINICAL FEATURE; CODON; CONTROLLED STUDY; DENT 2 DISEASE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; INFANT; KIDNEY TUBULE DISORDER; LOWE SYNDROME; MALE; MISSENSE MUTATION; MUTATOR GENE; NONSENSE MUTATION; OCRL1 GENE; PHENOTYPE; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SLIT LAMP;

CHILD; CHILD, PRESCHOOL; CHLORIDE CHANNELS; CODON, NONSENSE; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; MODELS, GENETIC; MUTATION; MUTATION, MISSENSE; OCULOCEREBRORENAL SYNDROME; PHENOTYPE; PHOSPHORIC MONOESTER HYDROLASES; PROTEIN ISOFORMS; RENAL TUBULAR TRANSPORT, INBORN ERRORS;

EID: 65449126722     PISSN: 16602137     EISSN: None     Source Type: Journal    
DOI: 10.1159/000213506     Document Type: Article

References (47)

1. Hoopes RR Jr, Raja KM, Koich A, Hueber P, Reid R, Knohl SJ, Scheinman SJ: Evidence for genetic heterogeneity in Dent's disease. Kidney Int 2004;65:1615-1620.
2. Yamamoto K, Cox JP, Friedrich T, Christie PT, Bald M, Houtman PN, Lapsley MJ, Patzer L, Tsimaratos M, Van THWG, Yamaoka K, Jentsch TJ, Thakker RV: Characterization of renal chloride channel (clcn5) mutations in Dent's disease. J Am Soc Nephrol 2000;11: 1460-1468.
3. Lloyd SE, Pearce SHS, Fisher SE, Steinmeyer K, Schwappach B, Scheinman SJ, Harding B, Bolino A, Devoto M, Goodyer P, Rigden SPA, Wrong O, Jentsch TJ, Craig IW, Thakker RV: A common molecular basis for three inherited kidney stone diseases. Nature 1996;379: 445-449.
4. Friedrich T, Breiderhoff T, Jentsch TJ: Mutational analysis demonstrates that clc-4 and clc-5 directly mediate plasma membrane currents. J Biol Chem 1999;274:896-902.
5. Wang SS, Devuyst O, Courtoy PJ, Wang XT, Wang H, Wang Y, Thakker RV, Guggino S, Guggino WB: Mice lacking renal chloride channel, clc-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis. Hum Mol Genet 2000;9:2937-2945.
6. --channel disruption impairs endocytosis in a mouse model for Dent's disease. Nature 2000;408:369-373.
7. Dent CE, Friedman M: Hypercaluric rickets associated with renal tubular damage. Arch Dis Childhood 1964;39:240-249.
8. Pook MA, Wrong O, Wooding C, Norden AGW, Feest TG, Thakker RV: Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving dxs255 and maps to xp11.22. Hum Mol Genet 1993;2:2129-2134.
9. Fisher SE, Black GCM, Lloyd SE, Wrong OM, Thakker RV, Craig IW: Isolation and partial characterization of a human chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an hereditary nephrolithiasis). Hum Mol Genet 1994;3: 2053-2059.
10. Ludwig M, Utsch B, Balluch B, Frund S, Kuwertz-Broking E, Bokenkamp A: Hypercalciuria in patients with clcn5 mutations. Pediatr Nephrol 2006;21:1241-1250.
11. Picollo A, Pusch M: Chloride/proton antiporter activity of mammalian clc proteins clc-4 and clc-5. Nature 2005;436:420-423.
12. Olivos-Glander IM, Janne PA, Nussbaum RL: The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex. Am J Hum Genet 1995;57: 817-823.
13. Dressman MA, Olivos-Glander IM, Nussbaum RL, Suchy SF: Ocrl1, a ptdins(4,5)p(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells. J Histochem Cytochem 2000;48:179-190.
14. Ungewickell A, Ward ME, Ungewickell E, Majerus PW: The inositol polyphosphate 5-phosphatase ocrl associates with endosomes that are partially coated with clathrin. Proc Natl Acad Sci USA 2004;101:13501-13506.
15. Choudhury R, Diao A, Zhang F, Eisenberg E, Saint-Pol A, Williams C, Konstantakopoulos A, Lucocq J, Johannes L, Rabouille C, Greene LE, Lowe M: Lowe syndrome protein ocrl1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network. Mol Biol Cell 2005; 16:3467-3479.
16. Suchy SF, Olivos-Glander IM, Nussabaum RL: Lowe syndrome, a deficiency of phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus. Hum Mol Genet 1995;4:2245-2250.
17. Chen Z, Kamath P, Zhang S, Weil MM, Shillitoe EJ: Effectiveness of three ribozymes for cleavage of an RNA transcript from human papillomavirus type 18. Cancer Gene Ther 1995;2:263-271.
18. Raucher D, Stauffer T, Chen W, Shen K, Guo S, York JD, Sheetz MP, Meyer T: Phosphatidylinositol 4,5-bisphosphate functions as a second messenger that regulates cytoskeleton-plasma membrane adhesion. Cell 2000; 100:221-228.
19. Astle MV, Seaton G, Davies EM, Fedele CG, Rahman P, Arsala L, Mitchell CA: Regulation of phosphoinositide signaling by the inositol polyphosphate 5-phosphatases. IUBMB Life 2006;58:451-456.
20. Zhang X, Hartz PA, Philip E, Racusen LC, Majerus PW: Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack ocrl inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate. J Biol Chem 1998;273: 1574-1582.
21. Wenk MR, Lucast L, Di Paolo G, Romanelli AJ, Suchy SF, Nussbaum RL, Cline GW, Shulman GI, McMurray W, De Camilli P: Phosphoinositide profiling in complex lipid mixtures using electrospray ionization mass spectrometry. Nat Biotechnol 2003;21:813-817.
22. Lin T, Orrison BM, Suchy SF, Lewis RA, Nussbaum RL: Mutations are not uniformly distributed throughout the ocrl1 gene in Lowe syndrome patients. Mol Genet Metab 1998;64:58-61.
23. Lin T, Orrison BM, Leahey AM, Suchy SF, Bernard DJ, Lewis RA, Nussbaum RL: Spectrum of mutations in the ocrl1 gene in the Lowe oculocerebrorenal syndrome. Am J Hum Genet 1997;60:1384-1388.
24. Suchy SF, Nussbaum RL: The deficiency of pip2 5-phosphatase in Lowe syndrome affects actin polymerization. Am J Hum Genet 2002;71:1420-1427.
25. Nussbaum RL, Orrison BM, Janne PA, Charnas L, Chinault AC: Physical mapping and genomic structure of the Lowe syndrome gene ocrl1. Hum Genet 1997;99:145-150.
26. Hoopes RR, Jr., Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, Simckes A, Tasic V, Toenshoff B, Suchy SF, Nussbaum RL, Scheinman SJ: Dent disease with mutations in ocrl1. Am J Hum Genet 2005;76:260-267.
27. Kim N, Shin S, Lee S: Ecgene: Genome-based est clustering and gene modeling for alternative splicing. Genome Res 2005;15:566-576.
28. Thierry-Mieg D, Thierry-Mieg J: AceView: A comprehensive cDNA-supported gene and transcripts annotation. Genome Biol 2006; 7(suppl 1):S12.1-S12.14.
29. Stamm S, Riethoven JJ, Le Texier V, Gopala krishnan C, Ku manduri V, Tang Y, Barbosa-Morais NL, Thanaraj TA: ASD: a bioinformatics resource on alternative splicing. Nucleic Acids Res 2006;34:D46-D55.
30. Thanaraj TA, Stamm S, Clark F, Riethoven JJ, Le Texier V, Muilu J: ASD: the alternative splicing database. Nucleic Acids Res 2004; 32:D64-D69.
31. McLean WH, Irvine AD, Hamill KJ, Whittock NV, Coleman-Campbell CM, Mellerio JE, Ashton GS, Dopping-Hepenstal PJ, Eady RA, Jamil T, Phillips RJ, Shabbir SG, Haroon TS, Khurshid K, Moore JE, Page B, Darling J, Atherton DJ, Van Steensel MA, Munro CS, Smith FJ, McGrath JA: An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. Hum Mol Genet 2003;12:2395-2409.
32. Utsch B, Bökenkamp A, Benz MR, Besbas N, Dötsch J, Franke I, Fründ S, Gok F, Hoppe B, Karle S, Kuwertz-Bröking E, Laube G, Neb M, Nuutinen M, Ozaltin F, Rascher W, Ring T, Tasic V, van Wijk JA, Ludwig M: Novel ocrl1 mutations in patients with the phenotype of Dent disease. Am J Kidney Dis 2006; 48:942.e1-942.e14.
33. Sekine T, Nozu K, Iyengar R, Fu XJ, Matsuo M, Tanaka R, Iijima K, Matsui E, Harita Y, Inatomi J, Igarashi T: Ocrl1 mutations in patients with Dent disease phenotype in Japan. Pediatr Nephrol 2007;22:975-980.
34. Cho HY, Lee BH, Choi HJ, Ha IS, Choi Y, Cheong HI: Renal manifestations of dent disease and Lowe syndrome. Pediatr Nephrol 2008;23:243-249.
35. Schmid AC, Wise HM, Mitchell CA, Nussbaum R, Woscholski R: Type II phosphoinositide 5-phosphatases have unique sensitivities towards fatty acid composition and head group phosphorylation. FEBS Lett 2004;576:9-13.
36. McCrea HJ, Paradise S, Tomasini L, Addis M, Melis MA, De Matteis MA, De Camilli P: All known patient mutations in the ashrhogap domains of ocrl affect targeting and appl1 binding. Biochem Biophys Res Commun 2008;369:493-499.
37. Cartegni L, Chew SL, Krainer AR: Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 2002;3:285-298.
38. Shiga N, Takeshima Y, Sakamoto H, Inoue K, Yokota Y, Yokoyama M, Matsuo M: Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for becker muscular dystrophy. J Clin Invest 1997;100: 2204-2210.
39. Ginjaar IB, Kneppers AL, v d Meulen JD, Anderson LV, Bremmer-Bout M, van Deutekom JC, Weegenaar J, den Dunnen JT, Bakker E: Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one bmd family. Eur J Hum Genet 2000;8:793-796.
40. Liu W, Qian C, Francke U: Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome. Nat Genet 1997;16:328-329.
41. Nemoto Y, Arribas M, Haffner C, DeCamilli P: Synaptojanin 2, a novel synaptojanin isoform with a distinct targeting domain and expression pattern. J Biol Chem 1997;272: 30817-30821.
42. Seet LF, Cho S, Hessel A, Dumont DJ: Molecular cloning of multiple isoforms of synaptojanin 2 and assignment of the gene to mouse chromosome 17a2-3.1. Biochem Biophys Res Commun 1998; 247:116-122.
43. Christensen EI, Devuyst O, Dom G, Nielsen R, Van der Smissen P, Verroust P, Leruth M, Guggino WB, Courtoy PJ: Loss of chloride channel clc-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules. Proc Natl Acad Sci USA 2003;100:8472-8477.
44. Randazzo PA, Hirsch DS: Arf gaps: Multifunctional proteins that regulate membrane traffic and actin remodelling. Cell Signal 2004;16:401-413.
45. Apodaca G: Endocytic traffic in polarized epithelial cells: role of the actin and microtubule cytoskeleton. Tra ff ic 2001;2:149-159.
46. Shen J, Bao Y, Liu HM, Lee P, Leonard JV, Chen YT: Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type iii that is differentially expressed in liver and muscle. J Clin Invest 1996;98:352-357.
47. Rossetti S, Chauveau D, Kubly V, Slezak JM, Saggar-Malik AK, Pei Y, Ong AC, Stewart F, Watson ML, Bergstralh EJ, Winearls CG, Torres VE, Harris PC: Association of mutation position in polycystic kidney disease 1 (pkd1) gene and development of a vascular phenotype. Lancet 2003;361:2196-2201.