Loss of cone molecular markers in rhodopsin-mutant human retinas with retinitis pigmentosa

Molecular Vision

Volumn 6, Issue 28, 2000, Pages 204-215

  John, Sinoj K ^a   Smith, Julie E ^a   Aguirre, Gustavo D ^a,b   Milam, Ann H ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b Department of Obstetrics Gynecology   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; EYE PROTEIN; MEMBRANE PROTEIN; RHODOPSIN;

AGED; ARTICLE; FEMALE; FLUORESCENCE MICROSCOPY; FLUORESCENT ANTIBODY TECHNIQUE; GENETICS; HUMAN; MALE; METABOLISM; MIDDLE AGED; PATHOLOGY; POINT MUTATION; RETINA; RETINA CONE; RETINA ROD; RETINITIS PIGMENTOSA;

AGED; AGED, 80 AND OVER; BIOLOGICAL MARKERS; CONES (RETINA); EYE PROTEINS; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; HUMANS; MALE; MEMBRANE PROTEINS; MICROSCOPY, FLUORESCENCE; MIDDLE AGED; POINT MUTATION; RETINA; RETINITIS PIGMENTOSA; RHODOPSIN; RODS (RETINA);

EID: 0034601973     PISSN: 10900535     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (38)

1. Milam AH, Li ZY, Fariss RN. Histopathology of the human retina in retinitis pigmentosa. Prog Retin Eye Res 1998; 17:175-205.
2. Dryja TP, McGee TL, Reichel E, Hahn LB, Cowley GS, Yandell DW, Sandberg MA, Berson EL. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 1990; 343:364-6.
3. Dryja TP, McGee TL, Hahn LB, Cowley GS, Olsson JE, Reichel E, Sandberg MA, Berson EL. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N Engl J Med 1990; 323:1302-7.
4. Dryja TP, Hahn LB, Cowley GS, McGee TL, Berson EL. Mutation spectrum of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A 1991; 88:9370-4.
5. Farrar GJ, McWilliam P, Bradley DG, Kenna P, Lawler M, Sharp EM, Humphries MM, Eiberg H, Conneally PM, Trofatter JA, et al. Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity. Genomics 1990; 8:3540.
6. Sung CH, Davenport CM, Hennessey JC, Maumenee IH, Jacobson SG, Heckenlively JR, Nowakowski R, Fishman G, Gouras P, Nathans J. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A 1991; 88:6481-5.
7. Gal A, Apfelstedt-Sylla E, Janecke AR, Zrenner E. Rhodopsin mutations in inherited retinal dystrophies and dysfunctions. Prog Retin Eye Res 1997; 16:51-79.
8. Dryja TP, McEvoy JA, McGee TE, Berson EE. Novel rhodopsin mutations Gly114Val and Gln184Pro in dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2000; 41:3124-7.
9. Inglehearn CF, Tarttelin EE, Plant C, Peacock RE, al-Maghtheh M, Vithana E, Bird AC, Bhattacharya SS. A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity. J Med Genet 1998; 35:1-5.
10. Cideciyan AV, Hood DC, Huang Y, Banin E, Li ZY, Stone EM, Milam AH, Jacobson SG. Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man. Proc Natl Acad Sci U S A 1998; 95:7103-8.
11. Sung CH, Tai AW. Rhodopsin trafficking and its role in retinal dystrophies. Int Rev Cytol 2000; 195:215-67.
12. Rattner A, Sun H, Nathans J. Molecular genetics of human retinal disease. Annu Rev Genet 1999; 33:89-131.
13. Bird AC. Investigation of disease mechanisms in retinitis pigmentosa. Ophthalmic Paediatr Genet 1992; 13:57-66.
14. Milam AH. Strategies for rescue of retinal photoreceptor cells. Curr Opin Neurobiol 1993; 3:797-804.
15. Steinberg RH. Survival factors in retinal degenerations. Curr Opin Neurobiol 1994; 4:515-24.
16. Mohand-Said S, Hicks D, Dreyfus H, Sahel JA. Selective transplantation of rods delays cone loss in a retinitis pigmentosa model. Arch Ophthalmol 2000; 118:807-11.
17. Hicks D, Sahel J. The implications of rod-dependent cone survival for basic and clinical research. Invest Ophthalmol Vis Sci 1999; 40:3071-4.
18. Curcio CA, Owsley C, Jackson GR. Spare the rods, save the cones in aging and age-related maculopathy. Invest Ophthalmol Vis Sci 2000; 41:2015-8.
19. Ei ZY, Jacobson SG, Milam AH. Autosomal dominant retinitis pigmentosa caused by the threonine-17-methionine rhodopsin mutation: retinal histopathology and immunocytochemistry. Exp Eye Res 1994; 58:397-408.
20. Milam AH, Ei ZY, Cideciyan AV, Jacobson SG. Clinicopathologic effects of the Q64ter rhodopsin mutation in retinitis pigmentosa. Invest Ophthalmol Vis Sci 1996; 37:753-65.
21. Ei ZY, Kljavin IJ, Milam AH. Rod photoreceptor neurite sprouting in retinitis pigmentosa. J Neurosci 1995; 15:5429-38.
22. Sears S, Erickson A, Hendrickson A. The spatial and temporal expression of outer segment proteins during development of Macaca monkey cones. Invest Ophthalmol Vis Sci 2000; 41:971-9.
23. Bumsted K, Jasoni C, Szel A, Hendrickson A. Spatial and temporal expression of cone opsins during monkey retinal develop-ment. J Comp Neurol 1997; 378:117-34.
24. Xiao M, Hendrickson A. Spatial and temporal expression of short, long/medium, or both opsins in human fetal cones. J Comp Neurol 2000; 425:545-59.
25. Wikler KC, Rakic P, Bhattacharyya N, Macleish PR. Early emergence of photoreceptor mosaicism in the primate retina revealed by a novel cone-specific monoclonal antibody. J Comp Neurol 1997; 377:500-8.
26. Guerin CJ, Lewis GP, Fisher SK, Anderson DH. Recovery of photoreceptor outer segment length and analysis of membrane assembly rates in regenerating primate photoreceptor outer segments. Invest Ophthalmol Vis Sci 1993; 34:175-83.
27. Young RW. The renewal of rod and cone outer segments in the rhesus monkey. J Cell Biol 1971; 49:303-18.
28. Li ZY, Wong F, Chang JH, Possin DL, Hao Y, Fetters RM, Milam AH. Rhodopsin transgenic pigs as a model for human retinitis pigmentosa. Invest Ophthalmol Vis Sci 1998; 39:808-19.
29. Geller AM, Sieving PA. Assessment of foveal cone photoreceptors in Stargardt's macular dystrophy using a small dot detection task. Vision Res 1993; 33:1509-24.
30. Hendrickson AL, Yuodelis C. The morphological development of the human fovea. Ophthalmology 1984; 91:603-12.
31. LaVail MM, Unoki K, Yasumura D, Matthes MT, Yancopoulos GD, Steinberg RH. Multiple growth factors, cytokines, and neurotrophins rescue photoreceptors from the damaging effects of constant light. Proc Natl Acad Sci U S A 1992; 89:11249-53.
32. Li ZY, Chang JH, Milam AH. Agradientof basic fibroblast growth factor in rod photoreceptors in the normal human retina. Vis Neurosci 1997; 14:671-9.
33. Wahlin KJ, Campochiaro PA, Zack DJ, Adler R. Neurotrophic factors cause activation of intracellular signaling pathways in Muller cells and other cells of the inner retina, but not photoreceptors. Invest Ophthalmol Vis Sci 2000; 41:927-36.
34. Zack DJ. Neurotrophic rescue of photoreceptors: are Muller cells the mediators of survival? Neuron 2000; 26:285-6.
35. Lewis GP, Fisher SK. Muller cell outgrowth after retinal detachment: association with cone photoreceptors. Invest Ophthalmol Vis Sci 2000; 41:1542-5.
36. Mervin K, Valter K, Maslim J, Lewis G, Fisher S, Stone J. Limiting photoreceptor death and deconstruction during experimental retinal detachment: the value of oxygen supplementation. Am J Ophthalmol 1999; 128:155-64.
37. Smith WC, Milam AH, Dugger D, Arendt A, Hargrave PA, Palczewski K. A splice variant of arrestin. Molecular cloning and localization in bovine retina. J Biol Chem 1994; 269:15407-10.
38. Fain GL, Lisman IE. Light Ca2+, and photoreceptor death: new evidence for the equivalent-light hypothesis from arrestin knockout mice. Invest Ophthalmol Vis Sci 1999; 40:2770-2.