Nephrocystin-4 is required for pronephric duct-dependent cloaca formation in zebrafish

Human Molecular Genetics

Volumn 20, Issue 16, 2011, Pages 3119-3128

  Slanchev, Krasimir ^a   Pütz, Michael ^a   Schmitt, Annette ^a   Kramer Zucker, Albrecht ^a   Walz, Gerd ^a,b  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; NEPHROCYSTIN 1; NEPHROCYSTIN 4; PAR6 PROTEIN; UNCLASSIFIED DRUG; ZEBRAFISH PROTEIN;

ARTICLE; BODY REGIONS; CELL MIGRATION; CELL VACUOLE; CLOACA; CYST; ECTODERM; EMBRYO DEVELOPMENT; EPITHELIUM CELL; FIN (ORGAN); GENE DELETION; KIDNEY; ORGANOGENESIS; PRIORITY JOURNAL; PROCTODEUM; PRONEPHRIC DUCT; PROTEIN INTERACTION; YOLK SAC; ZEBRA FISH;

AMINO ACID SEQUENCE; ANIMALS; CELL MOVEMENT; CILIA; CLOACA; CLONING, MOLECULAR; EMBRYO, NONMAMMALIAN; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENE KNOCKDOWN TECHNIQUES; MOLECULAR SEQUENCE DATA; NEPHRONS; PHENOTYPE; ZEBRAFISH; ZEBRAFISH PROTEINS;

DANIO RERIO;

EID: 79960752031     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr214     Document Type: Article

References (35)

1. Hildebrandt, F., Attanasio, M. and Otto, E. (2009) Nephronophthisis: disease mechanisms of a ciliopathy. J. Am. Soc. Nephrol., 20, 23-35.
2. Hildebrandt, F. and Zhou, W. (2007) Nephronophthisis-associated ciliopathies. J. Am. Soc. Nephrol., 18, 1855-1871.
3. Hurd, T.W. and Hildebrandt, F. (2011) Mechanisms of nephronophthisis and related ciliopathies. Nephron, 118, e9-e14.
4. Wolf, M.T. and Hildebrandt, F. (2011) Nephronophthisis. Pediatr. Nephrol., 26, 181-194.
5. Liu, S., Lu, W., Obara, T., Kuida, S., Lehoczky, J., Dewar, K., Drummond, I.A. and Beier, D.R. (2002) A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafish. Development, 129, 5839-5846.
6. Otto, E.A., Helou, J., Allen, S.J., O'Toole, J.F., Wise, E.L., Ashraf, S., Attanasio, M., Zhou, W., Wolf, M.T. and Hildebrandt, F. (2008) Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. Hum. Mut., 29, 418-426.
7. Sayer, J.A., Otto, E.A., O'Toole, J.F., Nurnberg, G., Kennedy, M.A., Becker, C., Hennies, H.C., Helou, J., Attanasio, M., Fausett, B.V. et al. (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat. Genet., 38, 674-681.
8. Schafer, T., Putz, M., Lienkamp, S., Ganner, A., Bergbreiter, A., Ramachandran, H., Gieloff, V., Gerner, M., Mattonet, C., Czarnecki, P.G. et al. (2008) Genetic and physical interaction between the NPHP5 and NPHP6 gene products. Hum. Mol. Genet., 17, 3655-3662.
9. Goetz, S.C. and Anderson, K.V. (2010) The primary cilium: a signalling centre during vertebrate development. Nat. Rev., 11, 331-344.
10. Delous, M., Hellman, N.E., Gaude, H.M., Silbermann, F., Le Bivic, A., Salomon, R., Antignac, C. and Saunier, S. (2009) Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6. Hum. Mol. Genet., 18, 4711-4723.
11. Donaldson, J.C., Dempsey, P.J., Reddy, S., Bouton, A.H., Coffey, R.J. and Hanks, S.K. (2000) Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells. Exp. Cell Res., 256, 168-178.
12. Mollet, G., Silbermann, F., Delous, M., Salomon, R., Antignac, C. and Saunier, S. (2005) Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes. Hum. Mol. Genet., 14, 645-656.
13. Roepman, R., Letteboer, S.J., Arts, H.H., van Beersum, S.E., Lu, X., Krieger, E., Ferreira, P.A. and Cremers, F.P. (2005) Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations. Proc. Natl Acad. Sci. USA, 102, 18520-18525.
14. Drummond, I.A. (2005) Kidney development and disease in the zebrafish. J. Am. Soc. Nephrol., 16, 299-304.
15. Kramer-Zucker, A.G., Wiessner, S., Jensen, A.M. and Drummond, I.A. (2005) Organization of the pronephric filtration apparatus in zebrafish requires Nephrin, Podocin and the FERM domain protein Mosaic eyes. Dev. Biol., 285, 316-329.
16. Sullivan-Brown, J., Schottenfeld, J., Okabe, N., Hostetter, C.L., Serluca, F.C., Thiberge, S.Y. and Burdine, R.D. (2008) Zebrafish mutations affecting cilia motility share similar cystic phenotypes and suggest a mechanism of cyst formation that differs from pkd2 morphants. Dev. Biol., 314, 261-275.
17. Pyati, U.J., Cooper, M.S., Davidson, A.J., Nechiporuk, A. and Kimelman, D. (2006) Sustained Bmp signaling is essential for cloaca development in zebrafish. Development, 133, 2275-2284.
18. Stickney, H.L., Imai, Y., Draper, B., Moens, C. and Talbot, W.S. (2007) Zebrafish bmp4 functions during late gastrulation to specify ventroposterior cell fates. Dev. Biol., 310, 71-84.
19. Perner, B., Englert, C. and Bollig, F. (2007) The Wilms tumor genes wt1a and wt1b control different steps during formation of the zebrafish pronephros. Dev. Biol., 309, 87-96.
20. Haas, P. and Gilmour, D. (2006) Chemokine signaling mediates self-organizing tissue migration in the zebrafish lateral line. Dev. Cell, 10, 673-680.
21. Serluca, F.C., Xu, B., Okabe, N., Baker, K., Lin, S.Y., Sullivan-Brown, J., Konieczkowski, D.J., Jaffe, K.M., Bradner, J.M., Fishman, M.C. et al. (2009) Mutations in zebrafish leucine-rich repeat-containing six-like affect cilia motility and result in pronephric cysts, but have variable effects on left-right patterning. Development, 136, 1621-1631.
22. Essner, J.J., Amack, J.D., Nyholm, M.K., Harris, E.B. and Yost, H.J. (2005) Kupffer's vesicle is a ciliated organ of asymmetry in the zebrafish embryo that initiates left-right development of the brain, heart and gut. Development, 132, 1247-1260.
23. Kramer-Zucker, A.G., Olale, F., Haycraft, C.J., Yoder, B.K., Schier, A.F. and Drummond, I.A. (2005) Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis. Development, 132, 1907-1921.
24. Wilm, T.P. and Solnica-Krezel, L. (2005) Essential roles of a zebrafish prdm1/blimp1 homolog in embryo patterning and organogenesis. Development, 132, 393-404.
25. Thaeron, C., Avaron, F., Casane, D., Borday, V., Thisse, B., Thisse, C., Boulekbache, H. and Laurenti, P. (2000) Zebrafish evx1 is dynamically expressed during embryogenesis in subsets of interneurones, posterior gut and urogenital system. Mech. Dev., 99, 167-172.
26. Chocron, S., Verhoeven, M.C., Rentzsch, F., Hammerschmidt, M. and Bakkers, J. (2007) Zebrafish Bmp4 regulates left-right asymmetry at two distinct developmental time points. Dev. Biol., 305, 577-588.
27. Mollet, G., Salomon, R., Gribouval, O., Silbermann, F., Bacq, D., Landthaler, G., Milford, D., Nayir, A., Rizzoni, G., Antignac, C. et al. (2002) The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. Nat. Genet., 32, 300-305.
28. Munson, C., Huisken, J., Bit-Avragim, N., Kuo, T., Dong, P.D., Ober, E.A., Verkade, H., Abdelilah-Seyfried, S. and Stainier, D.Y. (2008) Regulation of neurocoel morphogenesis by Pard6 gamma b. Dev. Biol., 324, 41-54.
29. Bottinger, E.P. (2007) TGF-beta in renal injury and disease. Sem. Nephrol., 27, 309-320.
30. Ozdamar, B., Bose, R., Barrios-Rodiles, M., Wang, H.R., Zhang, Y. and Wrana, J.L. (2005) Regulation of the polarity protein Par6 by TGFbeta receptors controls epithelial cell plasticity. Science, 307, 1603-1609.
31. Hammerschmidt, M., Serbedzija, G.N. and McMahon, A.P. (1996) Genetic analysis of dorsoventral pattern formation in the zebrafish: requirement of a BMP-like ventralizing activity and its dorsal repressor. Gene. Dev., 10, 2452-2461.
32. Westerfield, M. (1995) The Zebrafish Book: A Guide for the Laboratory Use of Zebrafish (Danio rerio). University of Oregon Press, Eugene.
33. Kimmel, C.B. (1989) Genetics and early development of zebrafish. Trend. Genet., 5, 283-288.
34. Robu, M.E., Larson, J.D., Nasevicius, A., Beiraghi, S., Brenner, C., Farber, S.A. and Ekker, S.C. (2007) p53 activation by knockdown technologies. PLoS Genet., 3, e78.
35. Fu, X., Wang, Y., Schetle, N., Gao, H., Putz, M., von Gersdorff, G., Walz, G. and Kramer-Zucker, A.G. (2008) The subcellular localization of TRPP2 modulates its function. J. Am. Soc. Nephrol., 19, 1342-1351.