Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin

Proceedings of the National Academy of Sciences of the United States of America

Volumn 106, Issue 49, 2009, Pages 20948-20953

  Carrolla, Joseph ^a   Baraas, Rigmor C ^b   Wagner Schuman, Melissa ^a   Rha, Jungtae ^a   Siebe, Cory A ^a   Sloan, Christina ^a   Tait, Diane M ^a   Thompson, Summer ^a   Morgan, Jessica I W ^c   Neitz, Jay ^a,e   Williams, David R ^c   Foster, David H ^d   Neitz, Maureen ^a,e  

^a MEDICAL COLLEGE OF WISCONSIN   (United States)

^b UNIVERSITY OF SOUTH EASTERN NORWAY   (Norway)

^c UNIVERSITY OF ROCHESTER   (United States)

^d UNIVERSITY OF MANCHESTER   (United Kingdom)

^e UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Color vision; Cone mosaic; Photopigment; Retinal imaging; Rhodopsin

Indexed keywords

ARGININE; CYSTEINE; OPSIN; RHODOPSIN;

ADULT; ARTICLE; COLOR VISION DEFECT; COLOR VISION TEST; CONTROLLED STUDY; EYE EXAMINATION; FEMALE; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOSAICISM; PRIORITY JOURNAL; RETINA CONE; RETINITIS PIGMENTOSA; VISUAL IMPAIRMENT;

ADULT; AMINO ACID SUBSTITUTION; ARGININE; CELL COUNT; CHROMOSOMES, HUMAN, X; COLOR VISION; CONE OPSINS; CYSTEINE; DIAGNOSTIC TECHNIQUES, OPHTHALMOLOGICAL; FEMALE; HUMANS; MALE; MOSAICISM; MUTATION; RETINA; RETINAL CONE PHOTORECEPTOR CELLS; YOUNG ADULT;

EID: 73949111344     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0910128106     Document Type: Article

References (58)

1. Nathans J, Thomas D, Hogness DS (1986) Molecular genetics of human color vision: The genes encoding blue, green, and red pigments. Science 232:193-202.
2. Nathans J, Piantanida TP, Eddy RL, Shows TB, Hogness DS (1986) Molecular genetics of inherited variation in human color vision. Science 232:203-210.
3. Deeb SS, et al. (1992) Genotype-phenotype relationships in human red/green color-vision defects: Molecular and psychophysical studies. Am J Hum Genet 51:687-700.
4. Jagla WM, Jägle H, Hayashi T, Sharpe LT, Deeb SS (2002) The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genes. Hum Mol Genet 11:23-32.
5. Ueyama H, et al. (2003) An A-71C substitution in a green gene at the second position in the red/green visual-pigment gene array is associated with deutan color-vision deficiency. Proc Natl Acad Sci USA 100:3357-3362.
6. Neitz M, et al. (2004) Variety of genotypes in males diagnosed as dichromatic on a conventional clinical anomaloscope. Vis Neurosci 21:205-216.
7. Winderickx J, et al. (1992) Defective colour vision associated with amissense mutation in the human green visual pigment gene. Nat Genet 1:251-256.
8. Ueyama H, et al. (2004) Analysis of L-cone/M-cone visual pigment gene arrays in Japanese males with protan color-vision deficiency. Vision Res 44:2241-2252.
9. Dryja TP, McEvoy JA, McGee TL, Berson EL (2000) Novel rhodopsin mutations Gly114Val and Gln184Pro in dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 41:3124-3127.
10. Neidhardt J, Barthelmes D, Farahmand F, Fleischhauer JC, Berger W (2006) Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes. Invest Ophthalmol Vis Sci 47:1630-1635.
11. Mutations of the Rhodopsin Gene (n.d.) Retinal International's Scientific Newsletter. eds Preising M, Lorenz B. Available at http://www.retina-international.org/sci-news/rhomut.htm.
12. Stone EM (2003) Finding and interpreting genetic variations that are important to ophthalmologists. Trans Am Ophthalmol Soc 101:437-484.
13. Horn F, et al. (2003) GPCRDB information system for G protein-coupled receptors. Nucleic Acids Res 31:294-297.
14. Schuster A, et al. (2005) Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa. Br J Ophthalmol 89:1258-1264.
15. Sohocki MM, et al. (2001) Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum Mutat 17:42-51.
16. Sullivan LS, et al. (2006) Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: A screen of known genes in 200 families. Invest Ophthalmol Vis Sci 47:3052-3064.
17. Zhang F, Zhang Q, Shen H, Li S, Xiao X (1998) Analysis of rhodopsin and peripherin/RDS genes in Chinese patients with retinitis pigmentosa. Yan Ke Xue Bao 14:210-214 (in Chinese).
18. Macke JP, et al. (1993) Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: Implications for the structure and function of rhodopsin. Am J Hum Genet 53:80-89.
19. Richards JE, Scott KM, Sieving PA (1995) Disruption of conserved rhodopsin disulfide bond by Cys187Tyr mutation causes early and severe autosomal dominant retinitis pigmentosa. Ophthalmology 102:669-677.
20. KazmiMA, Sakmar TP, OstrerH(1997) Mutation of a conserved cysteine in the X-linked cone opsins causes color vision deficiencies by disrupting protein folding and stablilty. Invest Ophthalmol Vis Sci 38:1074-1081.
21. Karnik SS, Sakmar TP, Chen H-B, Khorana HG (1988) Cysteine residues 110 and 187 are required for the formation of correct structure in bovine rhodopsin. Proc Natl Acad Sci USA 85:8459-8463.
22. Hwa J, Reeves PJ, Klein-Seetharaman J, Davidson F, Khorana HG (1999) Structure and function in rhodopsin: Further elucidation of the role of the intradiscal cysteines, Cys-110, -185, and -187, in rhodopsin folding and function. Proc Natl Acad Sci USA 96:1932-1935.
23. Mendes HF, van der Spuy J, Chapple JP, Cheetham ME (2005) Mechanisms of cell death in rhodopsin retinitis pigmentosa: Implications for therapy. Trends in MolMed11:177-185.
24. Carroll J, Neitz M, Hofer H, Neitz J, Williams DR (2004) Functional photoreceptor loss revealed with adaptive optics: An alternate cause for color blindness. Proc Natl Acad Sci USA 101:8461-8466.
25. Nathans J, et al. (1989) Molecular genetics ofhumanblue cone monochromacy. Science 245:831-838.
26. Crognale MA, et al. (2004) Characterization of a novel form of X-linked incomplete achromatopsia. Vis Neurosci 21:197-203.
27. Regan BC, Reffin JP, Mollon JD (1994) Luminance noise and the rapid determination of discrimination ellipses in color deficiency. Vision Res 34:1279-1299.
28. Ventura DF, et al. (2003) Preliminary norms for the Cambridge Color Test. Normal & Defective Color Vision, eds Mollon JD, Pokorny J, Knoblauch K (Oxford Univ Press, Oxford).
29. Sharpe LT, et al. (1998) Red, green, and red-green hybrid pigments in thehumanretina: Correlations between deduced protein sequences and psychophysically measured spectral sensitivities. J Neurosci 18:10053-10069.
30. Neitz J, Neitz M, He JC, Shevell SK (1999) Trichromatic color vision with only two spectrally distinct photopigments. Nat Neurosci 2:884-888.
31. Neitz J, Neitz M, Kainz PM (1996) Visual pigment gene structure and the severity of color vision defects. Science 274:801-804.
32. Li KY, Roorda A (2007) Automated identification of cone photoreceptors in adaptive optics retinal images. J Opt Soc Am A Opt Image Sci Vis 24:1358-1363.
33. Rha J, et al. (In press) Spectral domain optical coherence tomography and adaptive optics: Imaging photoreceptor layer morphology to interpret preclinical phenotypes. In Retinal Degenerative Diseases: Laboratory and Therapeutic Investigations, Advances in Experimental Medicine and Biology, eds Anderson RE, Hollyfield JG, LaVail MM (Springer, New York).
34. Mancuso K, et al. (2009) Gene therapy for red-green colour blindness in adult primates. Nature 461:784-787.
35. Winderickx J, Battisti L, Motulsky AG, Deeb SS (1992) Selective expression of human X chromosome-linked green opsin genes. Proc Natl Acad Sci USA 89:9710-9714.
36. Yamaguchi T, Motulsky AG, Deeb SS (1997) Visual pigment gene structure and expression in the human retinae. Hum Mol Genet 6:981-990.
37. Sjoberg SA, Neitz M, Balding SD, Neitz J (1998) L-cone pigment genes expressed in normal color vision. Vision Res 38:3213-3219.
38. Hagstrom SA, Neitz J, NeitzM (1998) Variations in cone populations for red-green color vision examined by analysis of mRNA. NeuroReport 9:1963-1967.
39. Hagstrom SA, Neitz M, Neitz J (2000) Cone pigment gene expression in individual photoreceptors and the chromatic topography of the retina. J Opt SocAmAOpt Image Sci Vis 17:527-537.
40. Geller AM, Sieving PA (1993) Assessment of foveal cone photoreceptors in Stargardt's macular dystrophy using a small dot detection task. Vision Res 33:1509-1524.
41. Makous W, et al. (2006) Retinal microscotomas revealed with adaptive-optics microflashes. Invest Ophthalmol Vis Sci 47:4160-4167.
42. Kellner U, Sadowski B, Zrenner E, Foerster MH (1995) Selective cone dystrophy with protan genotype. Invest Ophthalmol Vis Sci 36:2381-2387.
43. Reichel E, Bruce AM, Sandberg MA, Berson EL (1989) An electroretinographic and molecular genetics study of X-linked cone degeneration. Am J Ophthalmol 108:540-547.
44. Scholl HPN, Kremers J, Besch D, Zrenner E, Jägle H (2006) Progressive cone dystrophy with deutan genotype and phenotype. Graefes Arch Clin Exp Ophthalmol 244:183-191.
45. Scholl HPN, Kremers J, Wissinger B (2001) Macular dystrophy with protan genotype and phenotype studied with cone type specific ERG's. Curr Eye Res 22:221-228.
46. Michaelides M, et al. (2005) X-linked cone dysfunction syndrome with myopia and protanopia. Ophthalmology 112:1448-1454.
47. Carroll J, Neitz M, Neitz J (2002) Estimates of L:M cone ratio from ERG flicker photometry and genetics. J Vis 2:531-542.
48. Hofer H, Carroll J, Neitz J, Neitz M, Williams DR (2005) Organization of the human trichromatic cone mosaic. J Neurosci 25:9669-9679.
49. Gunther KL, Neitz J, Neitz M (2008) Nucleotide polymorphisms upstream of the X-chromosome opsin gene array tune L:M cone ratio. Vis Neurosci 25:265-271.
50. Baraas RC, et al. (2007) Adaptive optics retinal imaging reveals S-cone dystrophy in tritan color-vision deficiency. J Opt Soc Am A Opt Image Sci Vis 24:1438-1446.
51. Bennett AG, Rudnicka AR, Edgar DF (1994) Improvements on Littmann's method of determining the size of retinal features by fundus photography. Graefes Arch Clin Exp Ophthalmol 232:361-367.
52. Abramoff MD, Magelhaes PJ, Ram SJ (2004) Image processing with ImageJ. Biophotonics International 11:36-42.
53. Jørgensen TM, Thomadsen J, Christensen U, Soliman W, Sander B (2007) Enhancing the signal-to-noise ratio in ophthalmic optical coherence tomography by image registration-method and clinical examples. J Biomed Opt 12:041208.
54. Thévenaz P, Ruttimann UE, Unser M (1998) A pyramid approach to subpixel registration based on intensity. IEEE Trans Image Process 7:27-41.
55. Jacobson SG, et al. (2007) Human cone photoreceptor dependence on RPE65 isomerase. Proc Natl Acad Sci USA 104:15123-15128.
56. Jacobson SG, et al. (2005) Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success. Proc Natl Acad Sci USA 102:6177-6182.
57. Neitz M, Neitz J (2001) A new mass screening test for color-vision deficiencies in children. Color Res Appl 26:S239-S249.
58. Pum D, Ahnelt PK, Grasl M (1990) Iso-orientation areas in the foveal cone mosaic. Vis Neurosci 5:511-523.