The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

Nature Genetics

Volumn 38, Issue 6, 2006, Pages 674-681

  Sayer, John A ^a,b   Otto, Edgar A ^a   O'Toole, John F ^a   Nurnberg, Gudrun ^c,d   Kennedy, Michael A ^e   Becker, Christian ^c,d   Hennies, Hans Christian ^c,m   Helou, Juliana ^a   Attanasio, Massimo ^a   Fausett, Blake V ^a   Utsch, Boris ^a   Khanna, Hemant ^f   Liu, Yan ^g   Drummond, Iain ^g   Kawakami, Isao ^h   Kusakabe, Takehiro ^h   Tsuda, Motoyuki ^h   Ma, Li ⁱ   Lee, Hwankyu ^f   Larson, Ronald G ^f   Allen, Susan J ^a   Wilkinson, Christopher J ^j   Nigg, Erich A ^j   Shou, Chengchao ^k   Lillo, Concepcion ^l   Williams, David S ^l   Hoppe, Bernd ^m   Kemper, Markus J ⁿ   Neuhaus, Thomas ⁿ   Parisi, Melissa A ^o   Glass, Ian A ^o   Petry, Marianne ^p   Kispert, Andreas ^p   Gloy, Joachim ^q   Ganner, Athina ^q   Walz, Gerd ^q   Zhu, Xueliang ⁱ   Goldman, Daniel ^a   Nurnberg, Peter ^c,m   Swaroop, Anand ^a,f   Leroux, Michel R ^e   Hildebrandt, Friedhelm ^a   more..

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c UNIVERSITY OF COLOGNE   (Germany)

^d German Genome Resource Center RZPD   (Germany)

^e SIMON FRASER UNIVERSITY   (Canada)

^f UNIVERSITY OF MICHIGAN   (United States)

^g MASSACHUSETTS GENERAL HOSPITAL   (United States)

^h UNIVERSITY OF HYOGO   (Japan)

ⁱ INSTITUTE OF BIOCHEMISTRY AND CELL BIOLOGY   (China)

^j MAX PLANCK INSTITUTE OF BIOCHEMISTRY   (Germany)

^k PEKING UNIVERSITY CANCER HOSPITAL AND INSTITUTE   (China)

^l UNIVERSITY OF CALIFORNIA   (United States)

^m UNIVERSITY OF COLOGNE   (Germany)

ⁿ UNIVERSITY OF ZURICH   (Switzerland)

^o UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^p HANNOVER MEDICAL SCHOOL   (Germany)

^q UNIVERSITY OF FREIBURG   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVATING TRANSCRIPTION FACTOR 4; AMINO ACID; COMPLEMENTARY DNA; CYCLIC AMP; GENE PRODUCT; NEPHROCYSTIN 6; PROTEIN CENPF; PROTEIN CEP290; REGULATOR PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ANIMAL EXPERIMENT; ANIMAL TISSUE; APLASIA; ARTICLE; CELL CYCLE; CELL NUCLEUS; CELL STRAIN HEK293; CENTRAL NERVOUS SYSTEM; CENTROSOME; CEP290 GENE; CEREBELLUM VERMIS; CHROMOSOME SEGREGATION; CONTROLLED STUDY; DISEASE ASSOCIATION; EPITHELIUM CELL; GENE; HUMAN; HUMAN CELL; HUMAN TISSUE; JOUBERT SYNDROME; KIDNEY CYST; KIDNEY EPITHELIUM; KIDNEY FAILURE; MOLECULAR CLONING; MUTATIONAL ANALYSIS; NEPHRONOPHTHISIS; NERVOUS SYSTEM DEVELOPMENT; NONHUMAN; NONSENSE MUTATION; NPHP6 GENE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHOTORECEPTOR; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; RETINA DEGENERATION; SEQUENCE ANALYSIS; TRANSCRIPTION REGULATION; ZEBRA FISH;

ACTIVATING TRANSCRIPTION FACTOR 4; ANIMALS; ANTIGENS, NEOPLASM; FEMALE; HUMANS; IN SITU HYBRIDIZATION; LINKAGE (GENETICS); MALE; MUTATION; NEOPLASM PROTEINS; PEDIGREE; SYNDROME; ZEBRAFISH;

DANIO RERIO;

EID: 33745230448     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1786     Document Type: Article

References (30)

1. Hildebrandt, F., Jungers, P., Robino, C. & Grundfeld, J.-P. Nephronophthisis, medullary cystic kidney disease and medullary sponge kidney disease. in Diseases of the Kidney and Urinary Tract (ed. Schrier, R.W.) (Lippincott Williams & Wilkins, Philadelphia, 2001).
2. Saraiva, J.M. & Baraitser, M. Joubert syndrome: a review. Am. J. Med. Genet. 43, 726-731 (1992).
3. Hildebrandt, F. et al. A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. Nat. Genet. 17, 149-153 (1997).
4. Olbrich, H. et al. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat. Genet. 34, 455-459 (2003).
5. Otto, E.A. 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 determination. Nat. Genet. 34, 413-420 (2003).
6. Otto, E. et al. A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am. J. Hum. Genet. 71, 1161-1167 (2002).
7. Otto, E.A. et al. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat. Genet. 37, 282-288 (2005).
8. Watnick, T. & Germino, G. From cilia to cyst. Nat. Genet. 34, 355-356 (2003).
9. Simons, M. et al. Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways. Nat. Genet. 37, 537-543 (2005).
10. Germino, G.G. Linking cilia to Wnts. Nat. Genet. 37, 455-457 (2005).
11. Hildebrandt, F. & Otto, E. Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease? Nat. Rev. Genet. 6, 928-940 (2005).
12. Utsch, B. et al. Identification of the first AHI1 gene mutations in families with Joubert syndrome and nephronophthisis. Pediatr. Nephrol. 21, 32-35 (2005).
13. Andersen, J.S. et al. Proteomic characterization of the human centrosome by protein correlation profiling. Nature 426, 570-574 (2003).
14. Nasmyth, K. & Haering, C.H. The structure and function of smc and kleisin complexes. Annu. Rev. Biochem. 74, 595-648 (2005).
15. Zhou, X. et al. Mitosin/CENP-F as a negative regulator of activating transcription factor-4. J. Biol. Chem. 280, 13973-13977 (2005).
16. Khanna, H. et al. RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins. J. Biol. Chem. 280, 33580-33587 (2005).
17. Morgan, D. et al. Expression analyses and interaction with the anaphase promoting complex protein Apc2 suggest a role for inversin in primary cilia and involvement in the cell cycle. Hum. Mol. Genet. 11, 3345-3350 (2002).
18. Mollet, G. et al. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. Nat. Genet. 32, 300-305 (2002).
19. Chen, D. & Shou, C. Molecular cloning of a tumor-associated antigen recognized by monoclonal antibody 3H11. Biochem. Biophys. Res. Commun. 280, 99-103 (2001).
20. Vaughan, K.T. & Vallee, R.B. Cytoplasmic dynein binds dynactin through a direct interaction between the intermediate chains and p150Glued. J. Cell Biol. 131, 1507-1516 (1995).
21. Kim, J.C. et al. MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis. J. Cell Sci. 118, 1007-1020 (2005).
22. Mollet, G. et al. Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes. Hum. Mol. Genet. 14, 645-656 (2005).
23. Pazour, G.J. & Witman, G.B. The vertebrate primary cilium is a sensory organelle. Curr. Opin. Cell Biol. 15, 105-110 (2003).
24. Kramer-Zucker, A.G. et al. Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis. Development 132, 1907-1921 (2005).
25. Mazet, F. et al. Molecular evidence from Ciona intestinal is for the evolutionary origin of vertebrate sensory placodes. Dev. Biol. 282, 494-508 (2005).
26. Nakashima, Y. et al. Origin of the vertebrate visual cycle: genes encoding retinal photoisomerase and two putative visual cycle proteins are expressed in whole brain of a primitive chordate. J. Comp. Neurol. 460, 180-190 (2003).
27. Barthel, L.K. & Raymond, P.A. In situ hybridization studies of retinal neurons. Methods Enzymol. 316, 579-590 (2000).
28. Westerfield, M. The Zebrafish Book (University of Oregon Press, Portland, Oregon, 1995).
29. Piperno, G. & Fuller, M.T. Monoclonal antibodies specific for an acetylated form of alpha-tubulin recognize the antigen in cilia and flagella from a variety of organisms. J. Cell Biol. 101, 2085-2094 (1985).
30. Khanna, H. et al. Early-onset retinal degeneration in the rd16 mouse is associated with an in-frame deletion in the novel centrosomal protein CEP290 (NPHP6) that interacts with retinitis pigmentosa GTPase regulator (RPGR). Hum. Mol. Genet. (in the press).