Mutant WDR36 directly affects axon growth of retinal ganglion cells leading to progressive retinal degeneration in mice

Human Molecular Genetics

Volumn 19, Issue 19, 2010, Pages 3806-3815

  Chi, Zai Long ^a   Yasumoto, Fumie ^a   Sergeev, Yuri ^b   Minami, Masayoshi ^a   Obazawa, Minoru ^a   Kimura, Itaru ^a   Takada, Yuichiro ^a   Iwata, Takeshi ^a  

^a NATIONAL HOSPITAL ORGANIZATION TOKYO MEDICAL CENTER   (Japan)

^b NATIONAL EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; MUTANT PROTEIN; PROTEIN WDR36; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; GENE DELETION; HISTOPATHOLOGY; IMMUNOHISTOCHEMISTRY; INTRAOCULAR PRESSURE; MOLECULAR MODEL; MOUSE; NERVE FIBER GROWTH; NONHUMAN; OPEN ANGLE GLAUCOMA; PRIORITY JOURNAL; RETINA AMACRINE CELL; RETINA DEGENERATION; RETINA GANGLION CELL; TRANSGENIC MOUSE;

ANIMALS; APOPTOSIS; AXONS; CELLS, CULTURED; DISEASE PROGRESSION; DNA; EYE PROTEINS; IMMUNOHISTOCHEMISTRY; INTRAOCULAR PRESSURE; MICE; MICE, TRANSGENIC; MODELS, MOLECULAR; MUTANT PROTEINS; RETINA; RETINAL DEGENERATION; RETINAL GANGLION CELLS; SYNAPSES;

ANIMALIA; MUS; MUS MUSCULUS;

EID: 77956567383     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddq299     Document Type: Article

References (33)

1. Quigley, H.A. (1996) Number of people with glaucoma worldwide. Br. J. Ophthalmol., 80, 389-393.
2. Quigley, H.A. and Broman, A.T. (2006) The number of people with glaucoma world wide in 2010 and 2020. Br. J. Ophthalmol., 90, 262-267.
3. Stone, E.M., Fingert, J.H., Alward, W.L., Nguyen, T.D., Polansky, J.R., Sunden, S.L., Nishimura, D., Clark, A.F., Nystuen, A., Nichols, B.E. et al. (1997) Identification of a gene that causes primary open angle glaucoma. Science, 275, 668-670.
4. Rezaie, T., Child, A., Hitchings, R., Brice, G., Miller, L., Coca-Prados, M., Heon, E., Krupin, T., Ritch, R., Kreutzer, D. et al. (2002) Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science, 295, 1077-1079.
5. Monemi, S., Spaeth, G., DaSilva, A., Popinchalk, S., Ilitchev, E., Liebmann, J., Ritch, R., Heon, E., Crick, R.P., Child, A. et al. (2005) Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Hum. Mol. Genet., 14, 725-733.
6. Hauser, M.A., Allingham, R.R., Linkroum, K., Wang, J., LaRocque-Abramson, K., Figueiredo, D., Santiago-Turla, C., del Bono, E.A., Haines, J.L., Pericak-Vance, M.A. et al. (2006) Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma. Invest. Ophthalmol. Vis. Sci., 47, 2542-2546.
7. Weisschuh, N., Wolf, C., Wissinger, B. and Gramer, E. (2007) Variations in the WDR36 gene in German patients with normal tension glaucoma. Mol. Vis., 13, 724-729.
8. Pasutto, F., Mardin, C.Y., Michels-Rautenstrauss, K., Weber, B.H., Sticht, H., Chavarria-Soley, G., Rautenstrauss, B., Kruse, F. and Reis, A. (2008) Profiling of WDR36 missense variants in German patients with glaucoma. Invest. Ophthalmol. Vis. Sci., 49, 270-274.
9. Miyazawa, A., Fuse, N., Mengkegale, M., Ryu, M., Seimiya, M., Wada, Y. and Nishida, K. (2007) Association between primary open-angle glaucoma and WDR36 DNA sequence variants in Japanese. Mol. Vis., 13, 1912-1919.
10. Skarie, J.M. and Link, B.A. (2008) The primary open-angle glaucoma gene WDR36 functions in ribosomal RNA processing and interacts with the p53 stress-response pathway. Hum. Mol. Genet. 17, 2474-2485.
11. Footz, T.K., Johnson, J.L., Dubois, S., Boivin, N., Raymond, V. and Walter, M.A. (2009) Glaucoma-associated WDR36 variants encode functional defects in a yeast model system. Hum. Mol. Genet. 18, 1276-1287.
12. Chi, Z.L., Akahori, M., Obazawa, M., Minami, M., Noda, T., Nakaya, N., Tomarev, S., Kawase, K., Yamamoto, T., Noda, S. et al. (2010) Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice. Hum. Mol. Genet., 19, 2606-2615.
13. Letunic, I., Doerks, T. and Bork, P. (2009) SMART 6: recent updates and new developments. Nucleic Acids Res., 37, D229-232.
14. Kelley, L.A. and Sternberg, M.J. (2009) Protein structure prediction on the Web: a case study using the Phyre server. Nat. Protoc., 4, 363-371.
15. Mohri, K., Vorobiev, S., Fedorov, A.A., Almo, S.C. and Ono, S. (2004) Identification of functional residues on Caenorhabditis elegans actin-interacting protein 1 (UNC-78) for disassembly of actin depolymerizing factor/cofilin-bound actin filaments. J. Biol. Chem., 279, 31697-31707.
16. Sondek, J., Bohm, A., Lambright, D.G., Hamm, H.E. and Sigler, P.B. (1996) Crystal structure of a G-protein beta gamma dimer at 2.1A resolution. Nature, 379, 369-374.
17. Zhou, Y., Grinchuk, O. and Tomarev, S.I. (2008) Transgenic mice expressing the Tyr437His mutant of human myocilin protein develop glaucoma. Invest. Ophthalmol. Vis. Sci., 49, 1932-1939.
18. Harada, T., Harada, C., Nakamura, K., Quah, H.M., Okumura, A., Namekata, K., Saeki, T., Aihara, M., Yoshida, H., Mitani, A. et al. (2007) The potential role of glutamate transporters in the pathogenesis of normal tension glaucoma. J. Clin. Invest., 117, 1763-1770.
19. John, S.W., Smith, R.S., Savinova, O.V., Hawes, N.L., Chang, B., Turnbull, D., Davisson, M., Roderick, T.H. and Heckenlively, J.R. (1998) Essential iris atrophy, pigment dispersion, and glaucoma in DBA/2J mice. Invest Ophthalmol Vis Sci., 39, 951-962.
20. Senatorov, V., Malyukova, I., Fariss, R., Wawrousek, E.F., Swaminathan, S., Sharan, S.K. and Tomarev, S. (2006) Expression of mutated mouse myocilin induces open-angle glaucoma in transgenic mice. J. Neurosci., 26, 11903-11914.
21. Chang, B., Smith, R.S., Hawes, N.L., Anderson, M.G., Zabaleta, A., Savinova, O., Roderick, T.H., Heckenlively, J.R., Davisson, M.T. and John, S.W. (1999) Interacting loci cause severe iris atrophy and glaucoma in DBA/2J mice. Nat. Genet., 21, 405-409.
22. Anderson, M.G., Smith, R.S., Hawes, N.L., Zabaleta, A., Chang, B., Wiggs, J.L. and John, S.W. (2002) Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J mice. Nat. Genet., 30, 81-85.
23. Jakobs, T.C., Libby, R.T., Ben, Y., John, S.W. and Masland, R.H. (2005) Retinal ganglion cell degeneration is topological but not cell type specific in DBA/2J mice. J. Cell. Biol., 171, 313-325.
24. Stoilov, I., Akarsu, A.N. and Sarfarazi, M. (1997) Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum. Mol. Genet., 6, 641-647.
25. Kaushik, S. and Cuervo, A.M. (2008) Chaperone-mediated autophagy. Methods. Mol. Biol., 445, 227-244.
26. Goldberg, A.L. (2003) Protein degradation and protection against misfolded or damaged proteins. Nature, 426, 895-899.
27. Howell, G.R., Libby, R.T., Jakobs, T.C., Smith, R.S., Phalan, F.C., Barter, J.W., Barbay, J.M., Marchant, J.K., Mahesh, N., Porciatti, V. et al. (2007) Axons of retinal ganglion cells are insulted in the optic nerve early in DBA/2J glaucoma. J. Cell. Biol., 179, 1523-1537.
28. Feng, G., Mellor, R.H., Bernstein, M., Keller-Peck, C., Nguyen, Q.T., Wallace, M., Nerbonne, J.M., Lichtman, J.W. and Sanes, J.R. (2000) Imaging neuronal subsets in transgenic mice expressing multiple spectral variants of GFP. Neuron, 28, 41-51.
29. Vidal, M., Morris, R., Grosveld, F. and Spanopoulou, E. (1990) Tissue-specific control elements of the Thy-1 gene. EMBO. J., 9, 833-840.
30. Raymond, I.D., Vila, A., Huynh, U.C. and Brecha, N.C. (2008) Cyan fluorescent protein expression in ganglion and amacrine cells in a thy1-CFP transgenic mouse retina. Mol. Vis., 14, 1559-1574.
31. George, R.A. and Heringa, J. (2000) The REPRO server: finding protein internal sequence repeats through the web. Trends. Biochem. Sci., 25, 515-517.
32. Levitt, M. (1992) Accurate modeling of protein conformation by automatic segment matching. J. Mol. Biol., 226, 507-533.
33. Lee, C. (1994) Predicting protein mutant energetics by self-consistent ensemble optimization. J. Mol. Biol., 236, 918-939.