Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis

Nature Genetics

Volumn 25, Issue 1, 2000, Pages 67-73

  Clarke, Geoff ^a,c   Goldberg, Andrew F X ^d   Vidgen, Danka ^a   Collins, Leslie ^a   Ploder, Lynda ^a   Schwarz, Lois ^e   Molday, Laurie L ^d   Rossant, Janet ^c,e   Szél, Ágoston ^f   Molday, Robert S ^d   Birch, David G ^g   McInnes, Roderick R ^a,b,c  

^a HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^e MOUNT SINAI HOSPITAL   (Canada)

^f SEMMELWEIS UNIVERSITY OF MEDICINE   (Hungary)

^g RETINA FOUNDATION OF THE SOUTHWEST   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; PERIPHERIN;

ANIMAL EXPERIMENT; ARTICLE; CELL VIABILITY; CONTROLLED STUDY; MORPHOGENESIS; MOUSE; MUTATION; NONHUMAN; PHOTORECEPTOR; PRIORITY JOURNAL; PROTEIN LOCALIZATION; REGULATORY MECHANISM;

ANIMALS; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; HUMANS; INTERMEDIATE FILAMENT PROTEINS; KINETICS; MALE; MEMBRANE GLYCOPROTEINS; MEMBRANE PROTEINS; MICE; MICE, INBRED BALB C; MICE, KNOCKOUT; MORPHOGENESIS; NERVE TISSUE PROTEINS; OPTIC DISK; RETINAL DEGENERATION; ROD OUTER SEGMENTS; RODS (RETINA);

ANIMALIA; MAMMALIA;

EID: 0034106721     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/75621     Document Type: Article

References (30)

1. Bascom, R.A. et al. Cloning of the cDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies. Neuron 8, 1171-1184 (1992).
2. Kedzierski, W., Weng, J. & Travis, G.H. Analysis of the rds/peripherin:rom1 complex in transgenic photoreceptors that express a chimeric protein. J. Biol. Chem. 274, 29181-29187 (1999).
3. Loewen, C.J.R. & Molday, R.S. Disulfide-mediated oligomerization of peripherin/rds and rom-1 from photoreceptor disk membranes. Implications for photoreceptor outer segment morphogenesis and degeneration. J. Biol. Chem. 275, 5370-5378 (2000).
4. Young, R.W. Visual cells and the concept of renewal. Invest. Ophthalmol. Vis. Sci. 15, 700-725 (1976).
5. Steinberg, R.H., Fisher, S.K. & Anderson, D.H. Disc morphogenesis in vertebrate photoreceptors. J. Comp. Neurol. 190, 501-519 (1980).
6. Sanyal, S., De Ruiter, A. & Hawkins, R.K. Development and degeneration of retina in rds mutant mice: light microscopy. J. Comp. Neurol. 194, 193-207 (1980).
7. Kohl, S. et. al. The role of the peripherin/RDS gene in retinal dystrophies. Acta Anat. 162, 75-84 (1998).
8. Travis, G.H. Mechanisms of cell death in the inherited retinal degenerations. Am. J. Hum. Genet. 62, 503-508 (1998).
9. Hawkins, R.K., Jansen, H.G. & Sanyal, S. Development and degeneration of retina in rds mutant mice: photoreceptor abnormalities in the heterozygotes. Exp. Eye Res. 41, 701-720 (1985).
10. Carter-Dawson, L.D. & LaVail, M.M. Rods and cones in the mouse retina. I. Structural analysis using light and electron microscopy. J. Comp. Neurol. 188, 245-262 (1979).
11. Williams, D.S. Actin filaments and photoreceptor membrane turnover. Bioessays 13, 171-178 (1991).
12. Arikawa, K., Molday, L.L, Molday, R.S. & Williams, D.S. Localization of peripherin/rds in disk membranes of cone and rod photoreceptors: relationship to disk membrane morphogenesis and retinal degeneration. J. Cell Biol. 116, 659-667 (1992).
13. Williams, D.S., Linberg, K.A, Vaughan, D.K., Fariss, R.N. & Fisher, S.K. Disruption of microfilament organization and deregulation of disk membrane morphogenesis by cytochalasin D in rod and cone photoreceptors. J. Comp. Neurol. 272, 161-176 (1988).
14. Boesze-Battaglia, K., Lamba, O.P., Napoli, A.A. Jr, Sinha, S. & Guo, Y. Fusion between retinal rod outer segment membranes and model membranes: a role for photoreceptor peripherin/rds. Biochemistry 37, 9477-9487 (1998).
15. Goldberg, A.F.X., Moritz, O.L. & Molday, R.S. Heterologous expression of photoreceptor peripherin/rds and rom-1 in COS-1 cells: assembly, interactions, and localization of multisubunit complexes. Biochemistry 34, 14213-14219 (1995).
16. Illing, M., Molday, L.L. & Molday, R.S. The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily. J. Biol. Chem. 272, 10303-10310 (1997).
17. Moritz, O.L. & Molday, R.S. Molecular cloning, membrane topology, and localization of bovine rom-1 in rod and cone photoreceptor cells. Invest. Ophthalmol. Vis. Sci. 37, 352-362 (1996).
18. Bascom, R.A., Schappert, K. & McInnes, R.R. Cloning of the human and murine ROM1 genes: genomic orgnization and sequence conservation. Hum. Mol. Genet. 2, 385-391 (1993).
19. Dryja, T.P., Hahn, L.B., Kajiwara, K. & Berson, E.L. Dominant and digenic mutations in the Peripherin/RDS and ROM1 genes in retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 38, 1972-1982 (1997).
20. Tybulewicz, V.L.J., Crawford, C.E., Jackson, P.K., Bronson, R.T. & Mulligan, R.C. Neonatal lethality and lymphopenia in mice with a homozygous disruption of the c-abl proto-oncogene. Cell 65, 1153-1163 (1991).
21. Nagy, A., Rossant, J., Nagy, R., Abramow-Newerly, W. & Roder, J.C. Derivation of completely cell culture-derived mice from early-passage embryonic stem cells. Proc. Natl Acad. Sci. USA 90, 8424-8428 (1993).
22. Sambrook, J., Fritsch, E.F. & Maniatis, T. Molecular Cloning: A Laboratory Manual (Cold Spring Harbor Laboratory Press, New York, 1989).
23. Nagy, A. & Rossant, J. in Gene Targeting: A Practical Approach (ed. Joyner, A.L.) 147-179 (Oxford University Press, Oxford, 1993).
24. Connell, G. et al. Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration slow in the rds mouse. Proc. Natl Acad. Sci. USA 88, 723-726 (1991).
25. Molday, R.S. & MacKenzie, D. Monoclonal antibodies to rhodopsin: characterization, cross-reactivity, and application as structural probes. Biochemistry 22, 653-660 (1983).
26. Röhlich, P. & Szél, Á. Binding sites of photoreceptor-specific antibodies COS-1, OS-2 and AO. Exp. Eye Res. 12, 935-944 (1993).
27. Michon, J.J., Li, Z.-L., Shioura, N., Anderson, R.J. & Tso, M.O.M. A comparative study of methods of photoreceptor morphometry. Invest. Ophthalmol. Vis. Sci. 32, 280-284 (1991).
28. Kedzierski, W., Lloyd, M., Birch, D.G., Bok, D. & Travis, G.H. Generation and analysis of transgenic mice expressing P216L-substituted rds/peripherin in rod photoreceptors. Invest. Ophthalmol. Vis. Sci. 38, 498-509 (1997).
29. Goldberg, A.F.X. & Molday, R.S. Subunit composition of the peripher/rds-rom-1 disk rim complex from rod photoreceptors: hydrodynamic evidence for a tetrameric quaternary structure. Biochemistry 35, 6144-6149 (1996).
30. Goldberg, A.F.X., Loewen, C.J.R. & Molday, R.S. Cysteine residues of photoreceptor peripherin/rds: role in subunit assembly and autosomal dominant retinitis pigmentosa. Biochemistry 37, 680-685 (1998).