Retinal degeneration in tulp1(-/-) mice: Vesicular accumulation in the interphotoreceptor matrix

Investigative Ophthalmology and Visual Science

Volumn 40, Issue 12, 1999, Pages 2795-2802

  Hagstrom, Stephanie A ^a   Duyao, Mabel ^b   North, Michael A ^b   Li, Tiansen ^a  

^a MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

^b Axys Pharmaceuticals Inc   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; OPSIN; PROTEIN TULP1; RHODOPSIN; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; GENE MUTATION; MOUSE; NONHUMAN; PHOTORECEPTOR; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN TRANSPORT; RETINA CONE; RETINA DEGENERATION; RETINA ROD; RETINITIS PIGMENTOSA;

ANIMALS; DNA PRIMERS; ELECTRORETINOGRAPHY; EXTRACELLULAR MATRIX; EYE PROTEINS; IMMUNOBLOTTING; IMMUNOENZYME TECHNIQUES; MICE; MICE, KNOCKOUT; PHOTORECEPTORS, VERTEBRATE; RETINA; RETINAL DEGENERATION; RHODOPSIN;

EID: 0032759729     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (41)

1. North MA, Naggert JK, Yan Y, Noben-Trauth K, Nishina PM. Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases. Proc Natl Acad Sci USA. 1997;94:3128-3133.
2. Nishina PM, North MA, Ikeda A, Yan Y, Naggert JK. Molecular characterization of a novel tubby gene family member, TULP3, in mouse and humans. Genomics. 1998;54:215-220.
3. Kleyn PW, Fan W, Kovats SG, et al. Identification and characterization of the mouse obesity gene tubby: a member of a novel gene family. Cell. 1996;85:281-290.
4. Noben-Trauth K, Naggert JK, North MA, Nishina PM. A candidate gene for the mouse mutation tubby. Nature. 1996;380:534-538.
5. Heckenlively JR, Chang B, Erway LC, et al. Mouse model for Usher syndrome: linkage mapping suggests homology to Usher type I reported at human chromosome 11p15. Proc Natl Acad Sci USA. 1995;92:11100-11104.
6. Ohlemillrr KK, Hughes RM, Mosinger-Ogilvie J, Speck JD, Grosof DH, Silverman MS. Cochlear and retinal degeneration in the tubby mouse. Neuroreport. 1995;6:845-849.
7. Hagstrom SA, North MA, Nishina PM, Berson EL, Dryja TP. Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. Nat Genet. 1998;18:174-176.
8. Banerjee P, Kleyn PW, Knowles JA, et al. TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa. Nat Genet. 1998;18:177-179.
9. Gu S, Lennon A, Li Y, et al. Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa. Lancet. 1998;351:1103-1104.
10. Li T, Sandberg MA, Pawlyk BS, et al. Effect of vitamin A supplementation on rhodopsin mutants threonine-17→methionine and proline-347→serine in transgenic mice and in cell cultures. Proc Natl Acad Sci USA. 1998;95:11933-11938.
11. Pittler SJ, Baehr W. Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse. Proc Natl Acad Sci USA. 1991;88:8322-8326.
12. Travis GH, Brennan MB, Danielson PE, Kozak CA, Sutcliffe JG. Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). Nature. 1989;338:70-73.
13. Arikawa K, Molday LL, Molday RS, Williams DS. Localization of peripherin/rds in the disk membranes of cone and rod photoreceptors: relationship to disk membrane morphogenesis and retinal degeneration. J Cell Biol. 1992;116:659-667.
14. Szel A, Rohlich P, Caffe AR, Juliusson B, Aguirre G, Van Veen T. Unique topographic separation of two spectral classes of cones in the mouse retina. J Comp Neurol. 1992;325:327-342.
15. Molday R. Monoclonal antibodies to rhodopsin and other proteins of rod outer segments. In: Osborne N, Chader G, eds. Progress in Retinal Research. Vol 8. New York: Pergamon: 1988;174-209.
16. Wang Y, Macke JP, Merbs SL, et al. A locus control region adjacent to the human red and green visual pigment genes. Neuron. 1992; 9:429-440.
17. Kedzierski W, Bok D, Travis GH. Non-cell-autonomous photoreceptor degeneration in rds mutant mice mosaic for expression of a rescue transgene. J Neurosci. 1998;18:4076-4082.
18. Peachey NS, Goto Y, al-Ubaidi MR, Naash MI. Properties of the mouse cone-mediated electroretinogram during light adaptation. Neurosci Lett. 1993;162:9-11.
19. Goto Y, Peachey NS, Ripps H, Naash MI. Functional abnormalities in transgenic mice expressing a mutant rhodopsin gene. Invest Ophthalmol Vis Sci. 1995;36:62-71.
20. Cagianut B, Sandri G, Zilla P, Theiler K. Studies on hereditary retinal degeneration: the rd gene in the mouse. Graefes Arch Ophthalmol. 1985;223:16-22.
21. Olsson JE, Gordon JW, Pawlyk BS, et al. Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa. Neuron. 1992;9:815-830.
22. Lem J, Flannery JG, Li T, Applebury ML, Farber DB, Simon MI. Retinal degeneration is rescued in transgenic rd mice by expression of the cGMP phosphodiesterase beta subunit. Proc Natl Acad Sci USA. 1992;89:4422-4426.
23. Liu X, Wu T-H, Stowe S, et al. Defective phototransductive disk membrane morphogenesis in transgenic mice expressing opsin with a mutated N-terminal domain. J Cell Sci. 1997;110:2589-2597.
24. Cohen AI. Some cytological and initial biochemical observations on photoreceptors in retinas of rds mice. Invest Ophthalmol Vis Sci. 1983;24:832-843.
25. Jansen HG, Sanyal S. Development and degeneration of retina in rds mutant mice: electron microscopy. J Comp Neurol. 1984;224: 71-84.
26. Nir I, Papermaster DS. Immunocytochemical localization of opsin in the inner segment and ciliary plasma membrane of photoreceptors in retinas of rds mutant mice. Invest Ophthalmol Vis Sci. 1986;27:836-840.
27. Usukura J, Bok D. Changes in the localization and content of opsin during retinal development in the rds mutant mouse: immunocytochemistry and immunoassay. Exp Eye Res. 1987;45: 501-515.
28. Jansen HG, Sanyal S, de Grip WJ, Schalken JJ. Development and degeneration of retina in rds mutant mice: ultraimmunohistochemical localization of opsin. Exp Eye Res. 1987;44:347-361.
29. Molday R. Peripherin/rds and rom-1: molecular properties and role in photoreceptor cell degeneration. In: Osborne N, Chader G, eds. Progress in Retinal and Eye Research. Vol 13. New York: Pergamon; 1994:272-297.
30. Fliesler S, Rayborn M, Hollyfield J. Membrane morphogenesis in retinal rod outer segments: inhibition by tunicamycin. J Biol Chem. 1985;100:574-587.
31. Blanks J, Mullen R, LaVail M. Retinal degeneration in the pcd cerebellar mutant mouse, II: electron microscopic analysis. J Comp Neurol. 1982;212:231-246.
32. Blanks JC, Spec C. Retinal degeneration in the pcd/pcd mutant mouse: accumulation of spherules in the interphotoreceptor space. Exp Eye Res. 1992;54:637-644.
33. Li T, Snyder WK, Olsson JE, Dryja TP. Transgenic mice carrying the dominant rhodopsin mutation P347S: evidence for defective vectorial transport of rhodopsin to the outer segments. Proc Natl Acad Sci USA. 1996;93:14176-14181.
34. Papermaster DS, Schneider BG, Besharse JC. Vesicular transport of newly synthesized opsin from the Golgi apparatus towards the rod outer segment. Invest Ophthalmol Vis Sci. 1985;26: 1386-1404.
35. Besharse JC, Wetzel MG, Janssen JJM, Boveegeurts PHM, Merkx M, Degrip WJ. Immunocytochemical localization of opsin in rod photoreceptors during periods of rapid disc assembly. J Neurocytol. 1995;24:371-388.
36. Deretic D, Papermaster DS. The role of small G-proteins in the transport of newly synthesized rhodopsin. In: Osborne N, Chader G, eds. Progress in Retinal and Eye Research. Vol 14. New York: Pergamon; 1995:249-265.
37. Deretic D, Huber LA, Ransom N, Mancini M, Simons K, Papermaster DS. Rab8 in retinal photoreceptors may participate in rhodopsin transport and in rod outer segment disk morphogenesis. J Cell Sci. 1995;108:215-224.
38. Aroeti B, Okhrimenko H, Reich V, Orzech E. Polarized trafficking of plasma membrane proteins: emerging roles for coats, SNAREs, GTPases and their link to the cytoskeleton. Biochim Biophys Acta. 1998;1376:57-90.
39. Deretic D, Puleo-Scheppke B, Trippe C. Cytoplasmic domain of rhodopsin is essential for post-Golgi vesicle formation in a retinal cell-free system. J Biol Chem. 1996;271:2279-2286.
40. Chuang JZ, Sung CH. The cytoplasmic tail of rhodopsin acts as a novel apical sorting signal in polarized MDCK cells. J Cell Biol. 1998;142:1245-1256.
41. Fariss RN, Molday RI, Fisher SK, Matsumoto B. Evidence from normal and degenerating photoreceptors that two outer segment integral membrane proteins have separate transport pathways. J Comp Neurol. 1997;387:148-156.