Mechanisms of nephronophthisis and related ciliopathies

Nephron - Experimental Nephrology

Volumn 118, Issue 1, 2010, Pages

  Hurd, Toby W ^a   Hildebrandt, Friedhelm ^a  

^a UNIVERSITY OF MICHIGAN   (United States)

Author keywords

Joubert syndrome; Meckel Gruber syndrome; Nephronophthisis; NPHP genes; Senior L ken syndrome

Indexed keywords

CYCLIC AMP; POLYCYSTIN 2; SYNAPTOJANIN;

ALLELISM; ANEMIA; BARDET BIEDL SYNDROME; CELL CYCLE REGULATION; CENTROSOME; CHLAMYDOMONAS REINHARDTII; EUKARYOTIC FLAGELLUM; GENE DELETION; GENE LOCATION; GENE MUTATION; HUMAN; JOUBERT SYNDROME; KIDNEY POLYCYSTIC DISEASE; MECKEL SYNDROME; NEPHRONOPHTHISIS; NONHUMAN; POLYDIPSIA; POLYURIA; PRIORITY JOURNAL; PROTEIN BINDING; REVIEW; SIGNAL TRANSDUCTION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CENTROSOME; CILIA; HUMANS; KIDNEY DISEASES, CYSTIC; MEMBRANE PROTEINS; MUTATION;

EID: 78649910328     PISSN: 16602129     EISSN: None     Source Type: Journal    
DOI: 10.1159/000320888     Document Type: Review

References (35)

1. Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Ma rker T, Voesenek K, Ka r tono A, et a l: Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 inter-actor, cause Joubert syndrome. Nat Genet 2007; 39: 882-888.
2. Attanasio M, Uhlenhaut NH, Sousa VH, O' Toole JF, Otto E, Anlag K, Klugmann C, Treier AC, Helou J, Sayer JA, et al: Loss of GLIS2 causes neph ronopht hisis i n huma ns and m ice by increased apoptosis and fibrosis. Nat Genet 2007; 39:1018-1024.
3. Bergmann C, Fliegauf M, Bruchle NO, Frank V, Olbrich H, Kirschner J, Schermer B, Schmed-ding I, Kispert A, Kranzlin B, et al: Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet 2008; 82: 959-970.
4. Chang B, Khanna H, Hawes N, Jimeno D, He S, Lillo C, Parapuram SK, Cheng H, Scott A, Hurd RE, et al: In-frame deletion in a novel centrosomal/ciliary protein CEP290/ NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum Mol Genet 2006; 15:1847-1857.
5. Delous M, Hellman NE, Gaude HM, Silbermann F, Le Bivic A, Salomon R, Antignac C, Sau-nier S: Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6. Hum Mol Genet 2009; 18 : 4711-4723.
6. Donaldson JC, Dempsey PJ, Reddy S, Bouton AH, Coffey RJ, Hanks SK: Crk-associated substrate p130(Cas) interacts with nephro-cystin and both proteins localize to cell-cell contacts of polarized epithelial cells. Exp Cell Res 2000; 256: 168-178.
7. Donaldson JC, Dise RS, Ritchie MD, Hanks SK: Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity. J Biol Chem 2002; 277:29028-29035.
8. Fischer E, Legue E, Doyen A, Nato F, Nicolas JF, Torres V, Yaniv M, Pontoglio M: Defective planar cell polarity in polycystic kidney disease. Nat Genet 2006; 38:21-23.
9. Fliegau F M,Hor vath J,Von Schnakenburg C,Ol-brich H,Muller D,Thumfart J,Schermer B,Pazour GJ,Neumann HP,Zentgraf H,et al. Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia. J Am Soc Nephrol, 2006, 17, 2424-2433.
10. Hildebrandt F, Otto E: Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease? Nat Rev Genet 2005; 6: 928-940.
11. Hildebrandt F, Otto E, Rensing C, Nothwang HG, Vollmer M, Adolphs J, Hanusch H, Brandis M: A novel gene encoding an SH3 domain protein is mutated in nephro-nophthisis type 1. Nat Genet 1997; 17:149-153.
12. Kottgen M, Benzing T, Simmen T, Tauber R, Buchholz B, Feliciangeli S, Huber TB, Schermer B, Kramer-Zucker A, Hopker K, et al: Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation. EMBO J 2005; 24:705-716.
13. May SR, Ashique AM, Karlen M, Wang B, Shen Y, Z arbalis K, Reiter J, Ericson J, Peterson AS: Loss of the retrograde motor for IFT disrupts localization of Smo to cilia and prevents the expression of both activator and repressor f unctions of Gli. Dev Biol 2005; 287: 378-389.
14. Mollet G, Silbermann F, Delous M, Salomon R, Antignac C, Saunier S: Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocys-tin-4 to primary cilia and centrosomes. Hum Mol Genet 2005; 14 : 645-656.
15. Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peranen J, Merdes A, Slusarski DC, Scheller RH, Bazan JF, Sheffield VC, Jackson PK: A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell 2007; 129:1201-1213.
16. O'Toole JF, Liu Y, Davis EE, Westlake CJ, Atta-nasio M, Otto EA, Seelow D, Nurnberg G, Becker C, Nuutinen M, et al: Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephro-nophthisis-like nephropathy. J Clin Invest 2010; 120: 791-802.
17. Ocbina PJ, Anderson KV: Intraflagellar transport, cilia, and mammalian Hedgehog signaling: analysis in mouse embryonic fibro-blasts. Dev Dyn 20 08; 237: 2030-2038.
18. Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto E, Volz A, Wolf MT, Sasmaz G, Trauer U, Reinhardt R, et al: Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fi-brosis. Nat Genet 2003; 34: 455-459.
19. Otto EA, Hurd TW, Airik R, et al: Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet 2010;42:840-850.
20. Otto EA, Loeys B, Khanna H, Hellemans J, Sud-brak R, Fan S, Muerb U, O'Toole JF, Helou J, Attanasio M, et al: Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Lo-ken syndrome and interacts with RPGR and calmodulin. Nat Genet 2005; 37: 282-288.
21. Otto EA, Schermer B, Obara T, O'Toole JF, Hill-er KS, Mueller AM, Ruf RG, Hoefele J, Beek-mann F, Landau D, et al: Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determinat ion. Nat Genet 2003; 34: 413-4 20.
22. Otto EA, Trapp ML, Schultheiss UT, Helou J, Quarmby LM, Hildebrandt F: NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis. J Am Soc Nephrol 2008; 19: 587-592.
23. Pazour GJ, Dickert BL, Vucica Y, Seeley ES, Rosenbaum JL, Witman GB, Cole DG: Chlamydomonas IFT88 and its mouse ho-mologue, polycystic kidney disease gene tg737, are required for assembly of cilia and f lagel la. J Cell Biol 200 0; 151: 709-718.
24. Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, et al: The centro-somal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet 2006; 38:674-681.
25. Schafer T, Putz M, Lienkamp S, Ganner A, Berg-breiter A, Ramachandran H, Gieloff V, Ger-ner M, Mattonet C, Czarnecki PG, et al: Genetic and physical interaction between the NPHP5 and NPHP6 gene products. Hum Mol Genet 2008; 17:3655-3662.
26. Schermer B, Hopker K, Omran H, Ghenoiu C, Fliegauf M, Fekete A, Horvath J, Kottgen M, Hackl M, Zschiedrich S, et al: Phosphoryla-tion by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia. EMBO J 2005; 24:4415-4424.
27. Shiba D, Manning DK, Koga H, Beier DR, Yo-koyama T: Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia. Cytoskeleton 2010; 67:112-119.
28. Shiba D, Yamaoka Y, Hagiwara H, Takamatsu T, Ha mada H, Yokoyama T: L ocalization of I nv in a distinctive intraciliary compartment requires the C-terminal ninein-homolog-con-taining region. J Cell Sci 2009; 122:44-54.
29. Simons M, Gloy J, Ganner A, Bullerkotte A, Bashkurov M, Kronig C, Schermer B, Benz-ing T, Cabello OA, Jenny A, et al: Inversin, the gene product mutated in nephronophthi-sis type II, functions as a molecular switch between Wnt signaling pathways. Nat Genet 2005; 37: 537-543.
30. Sohara E, Luo Y, Zhang J, Manning DK, Beier DR, Zhou J: Nek8 regulates the expression and localization of polycystin-1 and polycys-tin-2. J Am Soc Nephrol 20 08; 19: 469-476.
31. Tory K, Rousset-Rouviere C, Gubler MC, Morin-iere V, Pawtowski A, Becker C, Guyot C, Gie S, Frishberg Y, Nivet H, et al: Mutations of NPHP2 and NPHP3 in infantile nephro-nophthisis. Kidney Int 2009; 75: 839-847.
32. Verdeguer F, Le Corre S, Fischer E, Callens C, Garbay S, Doyen A, Igarashi P, Terzi F, Pon-toglio M: A mitotic transcriptional switch in polycystic kidney disease. Nat Med 2010; 16: 106-110.
33. Wang X, Ward CJ, Harris PC, Torres VE: Cyclic nucleotide signaling in polycystic kidney disease. Kidney Int 2010; 77:129-140.
34. Winkelbauer ME, Schafer JC, Haycraft CJ, Swo-boda P, Yoder BK: The C. elegans homologs of nephrocystin-1 and nephrocystin-4 are cilia transition zone proteins involved in chemosensory perception. J Cell Sci 2005; 118:5575-5587.
35. Yoder BK, Hou X, Guay-Woodford LM: The polycystic kidney disease proteins, polycys-tin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia. J Am Soc Nephrol 2002; 13: 2508-2516.