The retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) links RPGR to the nephronophthisis protein network

Kidney International

Volumn 77, Issue 10, 2010, Pages 891-896

  Gerner, Martin ^a   Haribaskar, Ramachandran ^a   Pütz, Michael ^a   Czerwitzki, Jacqueline ^a   Walz, Gerd ^a   Schäfer, Tobias ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Cell and transport physiology; Cell signaling; Familial nephropathy; Genetic renal disease; Genetics and development

Indexed keywords

ADAPTOR PROTEIN; RETINITIS PIGMENTOSA GUANOSINE TRIPHOSPHATASE REGULATOR INTERACTING PROTEIN 1; UNCLASSIFIED DRUG;

ARTICLE; EMBRYO DEVELOPMENT; GENE; NEPHROCYSTIN 5 GENE; NEPHROCYSTIN 6 GENE; NEPHRONOPHTHISIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN INTERACTION; RETINITIS PIGMENTOSA; RETINITIS PIGMENTOSA GUANOSINE TRIPHOSPHATASE REGULATOR GENE; ZEBRA FISH;

EID: 77951877732     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/ki.2010.27     Document Type: Article

References (29)

1. Hildebrandt F, Zhou W. Nephronophthisis-Associated Ciliopathies. J Am Soc Nephrol 2007; 18: 1855-1871.
2. Hildebrandt F, Attanasio M, Otto E. Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol 2009; 20: 23-35.
3. den Hollander AI, Roepman R, Koenekoop RK et al. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res 2008; 27: 391-419.
4. Adams NA, Awadein A, Toma HS. The Retinal Ciliopathies. Ophthalmic Genetics 2007; 28: 113-125.
5. Otto EA, Loeys B, Khanna H et al. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet 2005; 37: 282-288.
6. den Hollander AI, Koenekoop RK, Yzer S et al. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet 2006; 79: 556-561.
7. Chang B, Khanna H, Hawes N 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.
8. Arts HH, Doherty D, van Beersum SE et al. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet 2007; 39: 882-888.
9. Delous M, Baala L, Salomon R et al. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet 2007; 39: 875-881.
10. Wolf MT, Saunier S, O'Toole JF et al. Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis. Kidney Int 2007; 72: 1520-1526.
11. Meindl A, Dry K, Herrmann K et al. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat Genet 1996; 13: 35-42.
12. Roepman R, van Duijnhoven G, Rosenberg T et al. Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. Hum Mol Genet 1996; 5: 1035-1041.
13. Schäfer T, Pütz M, Lienkamp S et al. Genetic and physical interaction between the NPHP5 and NPHP6 gene products. Hum Mol Genet 2008; 17: 3655-3662.
14. Sayer JA, Otto EA, O'Toole JF et al. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet 2006; 38: 674-681.
15. Bergmann C, Fliegauf M, Bruchle NO 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.
16. Boylan JP, Wright AF. Identification of a novel protein interacting with RPGR. Hum Mol Genet 2000; 9: 2085-2093.
17. Dryja TP, Adams SM, Grimsby JL et al. Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am J Hum Genet 2001; 68: 1295-1298.
18. Ferreira PA. Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms. Hum Mol Genet 2005; 14(Spec No. 2): R259-R267.
19. Roepman R, Letteboer SJ, Arts HH et al. Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations. Proc Natl Acad Sci USA 2005; 102: 18520-18525.
20. Arts HH, Cremers FP, Knoers NV et al. Focus on molecules: RPGRIP1. Exp Eye Res 2009; 88: 332-333.
21. Koenekoop RK. RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review. Ophthalmic Genet 2005; 26: 175-179.
22. Lu X, Guruju M, Oswald J et al. Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis. Hum Mol Genet 2005; 14: 1327-1340.
23. Cremers FP, van den Hurk JA, den Hollander AI. Molecular genetics of Leber congenital amaurosis. Hum Mol Genet 2002; 11: 1169-1176.
24. Roepman R, Wolfrum U. Protein networks and complexes in photoreceptor cilia. Subcell Biochem 2007; 43: 209-235.
25. Khanna H, Davis EE, Murga-Zamalloa CA et al. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet 2009; 41: 739-745.
26. Ferrante MI, Zullo A, Barra A et al. Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification. Nat Genet 2006; 38: 112-117.
27. Coene KL, Roepman R, Doherty D et al. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet 2009; 85: 465-481.
28. Fu X, Wang Y, Schetle N et al. The subcellular localization of TRPP2 modulates its function. J Am Soc Nephrol 2008; 19: 1342-1351.
29. Perner B, Englert C, Bollig F. The Wilms tumor genes wt1a and wt1b control different steps during formation of the zebrafish pronephros. Dev Biol 2007; 309: 87-96.