Protan color vision deficiency with a unique order of green-red as the first two genes of a visual pigment array

Journal of Human Genetics

Volumn 51, Issue 8, 2006, Pages 686-694

  Ueyama, Hisao ^a   Tanabe, Shoko ^b   Muraki Oda, Sanae ^a   Yamade, Shinichi ^a   Ohkubo, Iwao ^a  

^a SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

^b Institute of Vision Research   (Japan)

Author keywords

Cone opsin gene; Congenital red green color vision deficiency; Long range PCR; Promoter; Protan deficiency; Pulsed field gel electrophoresis; Visual pigment

Indexed keywords

EID: 77952882657     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-006-0008-2     Document Type: Article

References (28)

1. Asenjo AB, Rim J, Oprian DD (1994) Molecular determinants of human red/green color discrimination. Neuron 12:1131-1138 (Pubitemid 24178204)
2. Baylor DA, Nunn BJ, Schnapf JL (1987) Spectral sensitivity of cones of the monkey Macaca fascicularis. J Physiol 390:145-160 (Pubitemid 17147851)
3. Carroll J, Neitz J, Neitz M (2002) Estimates of L:M cone ratio from ERG flicker photometry and genetics. J Vis 2:531-542 (Pubitemid 39047337)
4. Deeb SS, Lindsey DT, Hibiya Y, Sanocki E, Winderickx J, Teller DY, Motulsky AG (1992) Genotype-phenotype relationships in human red/green color-vision defects: molecular and psychophysical studies. Am J Hum Genet 51:687-700
5. Hagstrom SA, Neitz M, Neitz J (2000) Cone pigment gene expression in individual photoreceptors and the chromatic topography of the retina. J Opt Soc Am A 17:527-537
6. Hayashi T, Motulsky AG, Deeb SS (1999) Position of a 'green-red' hybrid gene in the visual pigment array determines colour-vision phenotype. Nat Genet 22:90-93
7. Hayashi S, Ueyama H, Tanabe S, Yamade S, Kani K (2001) Number and variations of the red and green visual pigment genes in Japanese men with normal color vision. Jpn J Ophthalmol 45:60-67 (Pubitemid 32036674)
8. Hofer H, Carrol J, Neitz J, Neitz M, Williams DR (2005) Organization of the human trichromatic cone mosaic. J Neurosci 25:9669-9679 (Pubitemid 41510907)
9. 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 (Pubitemid 34100765)
10. Knau H, Kremers J, Schmidt H-J, Wolf S, Wissinger B, Sharpe LT (2002) M-cone opsin gene number does not correlate with variation in L/M-cone sensitivity. Vision Res 42:1888-1896 (Pubitemid 34786549)
11. Macke JP, Nathans J (1997) Individual variation in the size of the human red and green visual pigment gene array. Invest Ophthalmol Vis Sci 38:1040-1043
12. Meagher MJ, Jorgensen AL, Deeb SS (1996) Sequence and evolutionary history of the length polymorphism in intron 1 of the human red photopigment gene. J Mol Evol 43:622-630
13. Merbs SL, Nathans J (1992) Absorption spectra of the hybrid pigments responsible for anomalous color vision. Science 258:464-466
14. Miyahara E, Pokorny J, Smith VC, Baron R, Baron E (1998) Color vision in two observers with highly biased LWS/MWS cone ratios. Vision Res 38:601-612 (Pubitemid 27519145)
15. Nathans J, Thomas D, Hogness DS (1986a) Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. Science 232:193-202 (Pubitemid 16046600)
16. Nathans J, Piantanida TP, Eddy RL, Shows TB, Hogness DS (1986b) Molecular genetics of inherited variation in human color vision. Science 232:203-210 (Pubitemid 16046601)
17. Neitz J, Neitz M, He JC, Shevell SK (1999) Trichromatic color vision with only two spectrally distinct photopigments. Nat Neurosci 2:884-888 (Pubitemid 30602601)
18. Oda S, Ueyama H, Tanabe S, Tanaka Y, Yamade S, Kani K (2000) Detection of female carriers of congenital color-vision deficiencies by visual pigment gene analysis. Curr Eye Res 21:767-773 (Pubitemid 32099426)
19. Oda S, Ueyama H, Nishida Y, Tanabe S, Yamade S (2003) Analysis of L-cone/M-cone visual pigment gene arrays in females by long-range PCR. Vision Res 43:489-495 (Pubitemid 36197792)
20. Röhlich P, van Veen T, Szél Á (1994) Two different visual pigments in one retinal cone cell. Neuron 13:1159-1166
21. Roorda A, Williams DR (1999) The arrangement of the three cone classes in the living human eye. Nature 397:520-522 (Pubitemid 29093249)
22. Smallwood PM, Wang Y, Nathans J (2002) Role of a locus control region in the mutually exclusive expression of human red and green cone pigment genes. Proc Natl Acad Sci USA 99:1008-1011 (Pubitemid 34106626)
23. Ueyama H, Kuwayama S, Imai H, Tanabe S, Oda S, Nishida Y, Wada A, Shichida Y, Yamade S (2002) Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies. Biochem Biophys Res Commun 294:205-209 (Pubitemid 34694077)
24. Ueyama H, Li Y-H, Fu G-L, Lertrit P, Atchaneeyasakul L-O, Oda S, Tanabe S, Nishida Y, Yamade S, Ohkubo I (2003) An -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 (Pubitemid 36356588)
25. Ueyama H, Kuwayama S, Imai H, Oda S, Nishida Y, Tanabe S, Shichida Y, Yamade S (2004) Analysis of L-cone/M-cone visual pigment gene arrays in Japanese males with protan color-vision deficiency. Vision Res 44:2241-2252 (Pubitemid 38781038)
26. Ueyama H, Torii R, Tanabe S, Oda S, Yamade S (2004) An insertion/deletion TEX28 polymorphism and its application to analysis of red/green visual pigment gene arrays. J Hum Genet 49:548-557 (Pubitemid 39506538)
27. Vollrath D, Nathans J, Davis RW (1988) Tandem array of human visual pigment genes at Xq28. Science 240:1669-1672
28. Winderickx J, Sanocki E, Lindsey DT, Teller DY, Motulsky AG, Deeb SS (1992) Defective colour vision associated with a missense mutation in the human green visual pigment gene. Nat Genet 1:251-256