Mouse model for lowe syndrome/dent disease 2 renal tubulopathy

Journal of the American Society of Nephrology

Volumn 22, Issue 3, 2011, Pages 443-448

  Bothwell, Susan P ^a,b   Chan, Emily ^a,b   Bernardini, Isa M ^c   Kuo, Yien Ming ^a,b   Gahl, William A ^c   Nussbaum, Robert L ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRIPHOSPHOINOSITIDE;

AMINOACIDURIA; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; DENT DISEASE 2; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION; GENOTYPE; KIDNEY TUBULE DISORDER; LOWE SYNDROME; MOUSE; NONHUMAN; POSTNATAL GROWTH; PRIORITY JOURNAL; PROTEINURIA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EID: 79952349408     PISSN: 10466673     EISSN: 15333450     Source Type: Journal    
DOI: 10.1681/ASN.2010050565     Document Type: Article

References (43)

1. Charnas L, Bernardini I, Rader D, Hoeg J, Gahl WA: Clinical and laboratory findings in the oculocerebrorenal syndrome of lowe, with special reference to growth and renal function. New Engl J Med 324: 1318-1325, 1991
2. Kenworthy L, Park T, Charnas LR: Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe. Am J Med Genet 46: 297-303, 1993 (Pubitemid 23132927)
3. Kenworthy L, Charnas L: Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of Lowe. Am J Med Genet 59: 283-290, 1995
4. Suchy SF, Nussbaum RL: Oculocerebrorenal syndrome of Lowe. In: The Online Metabolic and Molecular Bases of Inherited Disease, edited by Valle D, Beaudet AL, Vogelstein B, Kinzler K, Antonarakis S, Ballabio A, New York, McGraw-Hill, 2009
5. Bockenhauer D, Bokenkamp A, van't Hoff W, Levtchenko E, Kist-van Holthe JE, Tasic V, Ludwig M: Renal phenotype in Lowe Syndrome: A selective proximal tubular dysfunction. Clin J Am Soc Nephrol 3: 1430-1436, 2008
6. Attree O, Olivos IM, Okabe I, Bailey LC, Nelson DL, Lewis RA, McInnes RR, Nussbaum RL: The Lowe oculocerebrorenal syndrome gene encodes a novel protein highly homologous to inositol polyphosphate-5-phosphatase. Nature 358: 239-242, 1992
7. Leahey AM, Charnas LR, Nussbaum RL: Nonsense mutations in the OCRL-1 gene in patients with the Oculocerebrorenal Syndrome of Lowe. Hum Mol Genet 4: 461-463, 1993 (Pubitemid 23107225)
8. 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 64: 58-61, 1998 (Pubitemid 28453319)
9. Monnier N, Satre V, Lerouge E, Berthoin F, Lunardi J: OCRL1 mutation analysis in French Lowe syndrome patients: Implications for molecular diagnosis strategy and genetic counseling. Hum Mutat 16: 157-165, 2000 (Pubitemid 30604905)
10. Suchy SF, Olivos-Glander IM, Nussbaum RL: Lowe Syndrome, a deficiency of a phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus. Hum Mol Genet 4: 2245-2250, 1995
11. Zhang X, Jefferson AB, Auethavekiat V, Majerus PW: The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase. Proc Natl Acad Sci USA 92: 4853-4856, 1995
12. Faucherre A, Desbois P, Satre V, Lunardi J, Dorseuil O, Gacon G: Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network. Hum Mol Genet 12: 2449-2456, 2003 (Pubitemid 37220409)
13. Lichter-Konecki U, Farber LW, Cronin JS, Suchy SF, Nussbaum RL: The effect of missense mutations in the RhoGAP-homology domain on ocrl1 function. Mol Genet Metab 89: 121-128, 2006 (Pubitemid 44205468)
14. Choudhury R, Noakes CJ, McKenzie E, Kox C, Lowe M: Differential clathrin binding and subcellular localization of OCRL1 splice isoforms. J Biol Chem 284: 9965-9973, 2009
15. Choudhury R, Diao A, Zhang F, Eisenberg E, Saint-Pol A, Williams C, Konstantakopoulos A, Lucocq 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 16: 3467-3479, 2005 (Pubitemid 41077061)
16. Mao Y, Balkin DM, Zoncu R, Erdmann KS, Tomasini L, Hu F, Jin MM, Hodsdon ME, De Camilli P: A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism. EMBO J 28: 1831-1842, 2009
17. Ponting C: A novel domain suggests a ciliary function for ASPM, a brain size determining gene. Bioinformatics 22: 1031-1035, 2006
18. 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 369: 493-499, 2008
19. Erdmann KS, Mao Y, McCrea HJ, Zoncu R, Lee S, Paradise S, Modregger J, Biemesderfer D, Toomre D, De Camilli P: A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway. Dev Cell 13: 377-390, 2007 (Pubitemid 47321603)
20. Swan LE, Tomasini L, Pirruccello M, Lunardi J, De Camilli P: Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1. Proc Natl Acad Sci U S A 107: 3511-3516, 2010
21. Tripathi RC, Cibis GW, Tripathi BJ: Pathogenesis of cataracts in patients with Lowe's syndrome. Ophthalmology 93: 1046-1051, 1986 (Pubitemid 16012714)
22. Wrong OM, Norden AG, Feest TG: Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance. QJM 87: 473-493, 1994 (Pubitemid 24243467)
23. Bokenkamp A, Bockenhauer D, Cheong HI, Hoppe B, Tasic V, Unwin R, Ludwig M: Dent-2 disease: A mild variant of Lowe syndrome. J Pediatr 155: 94-99, 2009
24. 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 65: 1615-1620, 2004 (Pubitemid 38591008)
25. Utsch B, Bokenkamp A, Benz MR, Besbas N, Dotsch J, Franke I, Frund S, Gok F, Hoppe B, Karle S, Kuwertz-Broking 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 48: 942 e1-14, 2006
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 76: 260-267, 2005 (Pubitemid 40129552)
27. Cho HY, Lee BH, Choi HJ, Ha IS, Choi Y, Cheong HI: Renal manifestations of Dent disease and Lowe syndrome. Pediatr Nephrol 23: 243-249, 2008
28. Janne PA, Suchy SF, Bernard DJ, McDonald M, Crawley J, Grinberg A, Wynshaw-Boris A, Westphal H, Nussbaum RL: Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice. J Clin Invest 101: 2042-2053, 1998 (Pubitemid 28244088)
29. Bernard DJ, Nussbaum RL: X-inactivation analysis of embryonic lethality in Ocrl wt/-; Inpp5b-/- mice. Mamm Genome 21: 186-194, 2010
30. Bothwell SP, Farber LW, Hoagland A, Nussbaum, RL: Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome. Mammal. Genome 21: 458-466, 2010
31. Hellsten E, Evans JP, Bernard DJ, Janne PA, Nussbaum RL: Disrupted sperm function and fertilin beta processing in mice deficient in the inositol polyphosphate 5-phosphatase Inpp5b. Dev Biol 240: 641-653, 2001 (Pubitemid 34056517)
32. Charnas LR, Gahl WA: The oculocerebrorenal syndrome of Lowe. Adv Peds 31: 75-107, 1991
33. Witzleben CL, Schoen EJ, Tu WH, McDonald LW: Progressive morphologic renal changes in the oculo-cerebro-renal syndrome of Lowe. AmJ Med 44: 319-324, 1968
34. Christensen EI, Birn H: Megalin and cubilin: Synergistic endocytic receptors in renal proximal tubule. Am J Physiol Renal Physiol 280: F562-F573, 2001
35. Christensen EI, Birn H: Megalin and cubilin: Multifunctional endocytic receptors. Nat Rev Mol Cell Biol 3: 256-266, 2002 (Pubitemid 34619261)
36. Christensen EI, Birn H, Verroust P, Moestrup SK: Megalin-mediated endocytosis in renal proximal tubule. Ren Fail 20: 191-199, 1998 (Pubitemid 28193440)
37. Santo Y, Hirai H, Shima M, Yamagata M, Michigami T, Nakajima S, Ozono K: Examination of megalin in renal tubular epithelium from patients with Dent disease. Pediatr Nephrol 19: 612-615, 2004 (Pubitemid 38771730)
38. Norden AG, Lapsley M, Igarashi T, Kelleher CL, Lee PJ, Matsuyama T, Scheinman SJ, Shiraga H, Sundin DP, Thakker RV, Unwin RJ, Verroust P, Moestrup SK: Urinary megalin deficiency implicates abnormal tubular endocytic function in Fanconi syndrome. J Am Soc Nephrol 13: 125-133, 2002 (Pubitemid 34042019)
39. 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 U S A 100: 8472-8477, 2003 (Pubitemid 36842569)
40. Gispert S, Del Turco D, Garrett L, Chen A, Bernard DJ, Hamm-Clement J, Korf HW, Deller T, Braak H, Auburger G, Nussbaum RL: Transgenic mice expressing mutant A53T human alpha-synuclein show neuronal dysfunction in the absence of aggregate formation. Mol Cell Neurosci 24: 419-429, 2003 (Pubitemid 37311305)
41. Dinchuk JE, Kelley K, Boyle AL: Fluorescence in situ hybridization of interphase nuclei isolated from whole blood of transgenic mice. Biotechniques 17: 954-961, 1994
42. Rasmussen R: Quantification on the Light-Cycler instrument. In: Rapid Cycle Real-time PCR: Methods and Applications, edited by Meuer S, Wittwer C, Nakagawara K, Heidelberg, Springer, 2001, pp 21-34
43. Harlow E, Lane D: Antibodies A Laboratory Manual, Cold Spring Harbor, NY, Cold Spring Harbor Laboratory, 1988