A meckelin-filamin a interaction mediates ciliogenesis

Human Molecular Genetics

Volumn 21, Issue 6, 2012, Pages 1272-1286

  Adams, Matthew ^a   Simms, Roslyn J ^c   Abdelhamed, Zakia ^a   Dawe, Helen R ^d   Szymanska, Katarzyna ^a   Logan, Clare V ^a   Wheway, Gabrielle ^a   Pitt, Eva ^b   Gull, Keith ^e   Knowles, Margaret A ^b   Blair, Edward ^f   Cross, Sally H ^g   Sayer, John A ^c   Johnson, Colin A ^a  

^a Ciliopathy Research Group   (United Kingdom)

^b UNIVERSITY OF LEEDS   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d UNIVERSITY OF EXETER   (United Kingdom)

^e UNIVERSITY OF OXFORD   (United Kingdom)

^f CHURCHILL HOSPITAL   (United Kingdom)

^g WESTERN GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

FILAMIN A; MECKELIN; PROTEIN; RHOA GUANINE NUCLEOTIDE BINDING PROTEIN; SMALL INTERFERING RNA; UNCLASSIFIED DRUG; WNT PROTEIN;

ANIMAL CELL; ARTICLE; BODY POSITION; CELL MIGRATION; CELL SURFACE; CELL TRANSFORMATION; CEREBELLUM DISEASE; CILIOGENESIS; CONTROLLED STUDY; CYTOPLASM; DISEASE SEVERITY; EMBRYO; ENZYME ACTIVITY; FEMALE; GENE DELETION; GENE MUTATION; HUMAN; HUMAN CELL; KINETOSOME; MALE; MECKEL SYNDROME; MOUSE; NONHUMAN; PERIVENTRICULAR HETEROTOPIA; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BINDING; PROTEIN DEPLETION; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN INTERACTION; PROTEIN LOCALIZATION; SIGNAL TRANSDUCTION; TERATOLOGY;

ANIMALS; BLOTTING, WESTERN; CILIARY MOTILITY DISORDERS; CONTRACTILE PROTEINS; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; HUMANS; IMMUNOENZYME TECHNIQUES; IMMUNOPRECIPITATION; MALE; MEMBRANE PROTEINS; MICE; MICROFILAMENT PROTEINS; MUTATION; PHENOTYPE; RNA, SMALL INTERFERING; TWO-HYBRID SYSTEM TECHNIQUES; ZEBRAFISH;

DANIO RERIO;

EID: 84863393427     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr557     Document Type: Article

References (42)

1. Baala, L., Audollent, S., Martinovic, J., Ozilou, C., Babron, M.C., Sivanandamoorthy, S., Saunier, S., Salomon, R., Gonzales, M., Rattenberry, E. et al. (2007) Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am. J. Hum. Genet., 81, 170-179.
2. Kyttala, M., Tallila, J., Salonen, R., Kopra, O., Kohlschmidt, N., Paavola-Sakki, P., Peltonen, L. and Kestila, M. (2006) MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nat. Genet., 38, 155-157.
3. Smith, U.M., Consugar, M., Tee, L.J., McKee, B.M., Maina, E.N., Whelan, S., Morgan, N.V., Goranson, E., Gissen, P., Lilliquist, S. et al. (2006) The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat. Genet., 38, 191-196.
4. Valente, E.M., Logan, C.V., Mougou-Zerelli, S., Lee, J.H., Silhavy, J.L., Brancati, F., Iannicelli, M., Travaglini, L., Romani, S., Illi, B. et al. (2010) Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat. Genet., 42, 619-625.
5. Roume, J., Genin, E., Cormier-Daire, V., Ma, H.W., Mehaye, B., Attie, T., Razavi-Encha, F., Fallet-Bianco, C., Buenerd, A., Clerget-Darpoux, F. et al. (1998) A gene for Meckel syndrome maps to chromosome 11q13. Am. J. Hum. Genet., 63, 1095-1101.
6. Dawe, H.R., Smith, U.M., Cullinane, A.R., Gerrelli, D., Cox, P., Badano, J.L., Blair-Reid, S., Sriram, N., Katsanis, N., Attie-Bitach, T. et al. (2007) The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum. Mol. Genet., 16, 173-186.
7. 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.
8. Arts, H.H., Doherty, D., van Beersum, S.E., Parisi, M.A., Letteboer, S.J., Gorden, N.T., Peters, T.A., Marker, T., Voesenek, K., Kartono, A. et al. (2007) Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat. Genet., 39, 882-888.
9. Vierkotten, J., Dildrop, R., Peters, T., Wang, B. and Ruther, U. (2007) Ftm is a novel basal body protein of cilia involved in Shh signalling. Development, 134, 2569-2577.
10. Bergmann, C., Fleigauf, M., Bruchle, N.O., Frank, V., Olbrich, H., Kirschner, J., Schermer, B., Schmedding, I., Kispert, A., Kranzlin, B. et al. (2008) Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal- hepatic-pancreatic dysplasia. Am. J. Hum. Genet., 82, 959-970.
11. Shaheen, R., Faqeih, E., Seidahmed, M.Z., Sunker, A., Alali, F.E., AlQahtani, K. and Alkuraya, F.S. (2011) A TCTN2 mutation defines a novel Meckel-Gruber syndrome locus. Hum. Mutat., 32, 573-578.
12. Baala, L., Romano, S., Khaddour, R., Saunier, S., Smith, U.M., Audollent, S., Ozilou, C., Faivre, L., Laurent, N., Foliguet, B. et al. (2007) The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am. J. Hum. Genet., 80, 186-194.
13. Williams, C.L., Li, C., Kida, K., Inglis, P.N., Mohan, S., Semenec, L., Bialas, N.J., Stupay, R.M., Chen, N., Blacque, O.E. et al. (2011) MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis. J. Cell Biol., 192, 1023-1041.
14. Dawe, H.R., Adams, M., Wheway, G., Szymanska, K., Logan, C.V., Noegel, A.A., Gull, K. and Johnson, C.A. (2009) Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton. J. Cell Sci., 122, 2716-2726.
15. Adams, M., Smith, U.M., Logan, C.V. and Johnson, C.A. (2008) Recent advances in the molecular pathology, cell biology and genetics of ciliopathies. J. Med. Genet., 45, 257-267.
16. Calderwood, D.A., Huttenlocher, A., Kiosses, W.B., Rose, D.M., Woodside, D.G., Schwartz, M.A. and Ginsberg, M.H. (2001) Increased filamin binding to beta-integrin cytoplasmic domains inhibits cell migration. Nat. Cell Biol., 3, 1060-1068.
17. Tu, Y., Wu, S., Shi, X., Chen, K. and Wu, C. (2003) Migfilin and Mig-2 link focal adhesions to filamin and the actin cytoskeleton and function in cell shape modulation. Cell, 113, 37-47.
18. Robertson, S.P., Twigg, S.R., Sutherland-Smith, A.J., Biancalana, V., Gorlin, R.J., Horn, D., Kenwrick, S.J., Kim, C.A., Morava, E., Newbury-Ecob, R. et al. (2003) Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat. Genet., 33, 487-491.
19. Feng, Y. and Walsh, C.A. (2004) The many faces of filamin: a versatile molecular scaffold for cell motility and signalling. Nat. Cell Biol., 6, 1034-1038.
20. Fox, J.W., Lamperti, E.D., Eksioglu, Y.Z., Hong, S.E., Feng, Y., Graham, D.A., Scheffer, I.E., Dobyns, W.B., Hirsch, B.A., Radtke, R.A. et al. (1998) Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron, 21, 1315-1325.
21. Eksioglu, Y.Z., Scheffer, I.E., Cardenas, P., Knoll, J., DiMario, F., Ramsby, G., Berg, M., Kamuro, K., Berkovic, S.F., Duyk, G.M. et al. (1996) Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development. Neuron, 16, 77-87.
22. Ithychanda, S.S., Hsu, D., Li, H., Yan, L., Liu, D.D., Das, M., Plow, E.F. and Qin, J. (2009) Identification and characterization of multiple similar ligand-binding repeats in filamin: implication on filamin-mediated receptor clustering and cross-talk. J. Biol. Chem., 284, 35113-35121.
23. Vadlamudi, R.K., Li, F., Adam, L., Nguyen, D., Ohta, Y., Stossel, T.P. and Kumar, R. (2002) Filamin is essential in actin cytoskeletal assembly mediated by p21-activated kinase 1. Nat. Cell Biol., 4, 681-690.
24. Ohta, Y., Hartwig, J.H. and Stossel, T.P. (2006) FilGAP, a Rho- and ROCK-regulated GAP for Rac binds filamin A to control actin remodelling. Nat. Cell Biol., 8, 803-814.
25. Khaddour, R., Smith, U., Baala, L., Martinovic, J., Clavering, D., Shaffiq, R., Ozilou, C., Cullinane, A., Kyttala, M., Shalev, S. et al. (2007) Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Hum. Mutat., 28, 523-524.
26. Van Aelst, L. and D'Souza-Schorey, C. (1997) Rho GTPases and signaling networks. Genes Dev., 11, 2295-2322.
27. Nomachi, A., Nishita, M., Inaba, D., Enomoto, M., Hamasaki, M. and Minami, Y. (2008) Receptor tyrosine kinase Ror2 mediates Wnt5a-induced polarized cell migration by activating c-Jun N-terminal kinase via actin-binding protein filamin A. J. Biol. Chem., 283, 27973-27981.
28. Gerdes, J.M., Liu, Y., Zaghloul, N.A., Leitch, C.C., Lawson, S.S., Kato, M., Beachy, P.A., Beales, P.L., DeMartino, G.N., Fisher, S. et al. (2007) Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response. Nat. Genet., 39, 1350-1360.
29. Lancaster, M.A., Louie, C.M., Silhavy, J.L., Sintasath, L., Decambre, M., Nigam, S.K., Willert, K. and Gleeson, J.G. (2009) Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy. Nat. Med., 15, 1046-1054.
30. Hart, A.W., Morgan, J.E., Schneider, J., West, K., McKie, L., Bhattacharya, S., Jackson, I.J. and Cross, S.H. (2006) Cardiac malformations and midline skeletal defects in mice lacking filamin A. Hum. Mol. Genet., 15, 2457-2467.
31. Park, T.J., Haigo, S.L. and Wallingford, J.B. (2006) Ciliogenesis defects in embryos lacking inturned or fuzzy function are associated with failure of planar cell polarity and Hedgehog signaling. Nat. Genet., 38, 303-311.
32. Jones, C., Roper, V.C., Foucher, I., Qian, D., Banizs, B., Petit, C., Yoder, B.K. and Chen, P. (2008) Ciliary proteins link basal body polarization to planar cell polarity regulation. Nat. Genet., 40, 69-77.
33. Gray, R.S., Abitua, P.B., Wlodarczyk, B.J., Szabo-Rogers, H.L., Blanchard, O., Lee, I., Weiss, G.S., Liu, K.J., Marcotte, E.M., Wallingford, J.B. et al. (2009) The planar cell polarity effector Fuz is essential for targeted membrane trafficking, ciliogenesis and mouse embryonic development. Nat. Cell Biol., 11, 1225-1232.
34. Zeng, H., Hoover, A.N. and Liu, A. (2010) PCP effector gene Inturned is an important regulator of cilia formation and embryonic development in mammals. Dev. Biol., 339, 418-428.
35. Pan, J., You, Y., Huang, T. and Brody, S.L. (2007) RhoA-mediated apical actin enrichment is required for ciliogenesis and promoted by Foxj1. J. Cell Sci., 120, 1868-1876.
36. Kim, J., Lee, J.E., Heynen-Genel, S., Suyama, E., Ono, K., Lee, K., Ideker, T., Aza-Blanc, P. and Gleeson, J.G. (2010) Functional genomic screen for modulators of ciliogenesis and cilium length. Nature, 464, 1048-1051.
37. Roelens, F.A., Barth, P.G. and van der Harten, J.J. (1999) Subependymal nodular heterotopia in patients with encephalocele. Eur. J. Paediatr. Neurol., 3, 59-63.
38. Veeman, M.T., Axelrod, J.D. and Moon, R.T. (2003) A second canon: functions and mechanisms of beta-catenin-independent Wnt signaling. Dev. Cell, 5, 367-377.
39. Veeman, M.T., Slusarski, D.C., Kaykas, A., Louie, S.H. and Moon, R.T. (2003) Zebrafish prickle, a modulator of noncanonical Wnt/Fz signaling, regulates gastrulation movements. Curr. Biol., 13, 680-685.
40. Formstecher, E., Aresta, S., Collura, V., Hamburger, A., Meil, A., Trehin, A., Reverdy, C., Betin, V., Maire, S., Brun, C. et al. (2005) Protein interaction mapping: a Drosophila case study. Genome Res., 15, 376-384.
41. Johnson, C.A., Padget, K., Austin, C.A. and Turner, B.M. (2001) Deacetylase activity associates with topoisomerase II and is necessary for etoposide-induced apoptosis. J. Biol. Chem., 276, 4539-4542.
42. Willert, K., Brown, J.D., Danenberg, E., Duncan, A.W., Weissman, I.L., Reya, T., Yates, J.R. III and Nusse, R. (2003) Wnt proteins are lipid-modified and can act as stem cell growth factors. Nature, 423, 448-452.