메뉴 건너뛰기




Volumn 54, Issue 9, 2009, Pages 525-530

Analysis of introns and promoters of L/M visual pigment genes in relation to deutan color-vision deficiency with an array of normal gene orders

Author keywords

Congenital color vision deficiency; Deutan; Intron; Promoter; Visual pigment gene

Indexed keywords

L VISUAL PIGMENT; M VISUAL PIGMENT; UNCLASSIFIED DRUG; VISUAL PIGMENT;

EID: 70349591828     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2009.73     Document Type: Article
Times cited : (5)

References (25)
  • 1
    • 0006277080 scopus 로고
    • Frequency of congenital color-vision deficiency revealed by a group checkup for schoolchildren in Nagoya.
    • in Japanese
    • Ichikawa, K., Torii, F., Yasuma, T., Tanabe, S., Uesaki, H., Takayanagi, Y. et al. Frequency of congenital color-vision deficiency revealed by a group checkup for schoolchildren in Nagoya. (in Japanese). Rinsho-Ganka Iho 74, 959-962 (1980).
    • (1980) Rinsho-Ganka Iho , vol.74 , pp. 959-962
    • Ichikawa, K.1    Torii, F.2    Yasuma, T.3    Tanabe, S.4    Uesaki, H.5    Takayanagi, Y.6
  • 2
    • 0022695490 scopus 로고
    • Molecular genetics of human color vision: The genes encoding blue, green, and red pigments
    • Nathans, J., Thomas, D. & Hogness, D. S. Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. Science 232, 193-202 (1986).
    • (1986) Science , vol.232 , pp. 193-202
    • Nathans, J.1    Thomas, D.2    Hogness, D.S.3
  • 3
    • 0022696951 scopus 로고
    • Molecular genetics of inherited variation in human color vision
    • Nathans, J., Piantanida, T. P., Eddy, R. L., Shows, T. B. & Hogness, D. S. Molecular genetics of inherited variation in human color vision. Science 232, 203-210 (1986).
    • (1986) Science , vol.232 , pp. 203-210
    • Nathans, J.1    Piantanida, T.P.2    Eddy, R.L.3    Shows, T.B.4    Hogness, D.S.5
  • 4
    • 0023764551 scopus 로고
    • Tandem array of human visual pigment genes at Xq28
    • Vollrath, D., Nathans, J. & Davis, R. W. Tandem array of human visual pigment genes at Xq28. Science 240, 1669-1672 (1988).
    • (1988) Science , vol.240 , pp. 1669-1672
    • Vollrath, D.1    Nathans, J.2    Davis, R.W.3
  • 5
    • 0026661795 scopus 로고
    • Genotype-phenotype relationships in human red/green color-vision defects: Molecular and psychophysical studies
    • Deeb, S. S., Lindsey, D. T., Hibiya, Y., Sanocki, E., Winderickx, J., Teller, D. Y. et al. Genotype-phenotype relationships in human red/green color-vision defects: molecular and psychophysical studies. Am. J. Hum. Genet. 51, 687-700 (1992).
    • (1992) Am. J. Hum. Genet. , vol.51 , pp. 687-700
    • Deeb, S.S.1    Lindsey, D.T.2    Hibiya, Y.3    Sanocki, E.4    Winderickx, J.5    Teller, D.Y.6
  • 6
    • 0032402112 scopus 로고    scopus 로고
    • Red, green, and red-green hybrid pigments in the human retina: Correlations between deduced protein sequences and psychophysically measured spectral sensitivities
    • Sharpe, L. T., Stockman, A., Jägle, H., Knau, H., Klausen, G., Reitner, A. et al. Red, green, and red-green hybrid pigments in the human retina: correlations between deduced protein sequences and psychophysically measured spectral sensitivities. J. Neurosci. 18, 10053-10069 (1998).
    • (1998) J. Neurosci. , vol.18 , pp. 10053-10069
    • Sharpe, L.T.1    Stockman, A.2    Jägle, H.3    Knau, H.4    Klausen, G.5    Reitner, A.6
  • 7
    • 0036156525 scopus 로고    scopus 로고
    • The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genes
    • Jagla, W. M., Jägle, H., Hayashi, T., Sharpe, L. T. & Deeb, S. S. The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genes. Hum. Mol. Genet. 11, 23-32 (2002).
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 23-32
    • Jagla, W.M.1    Jägle, H.2    Hayashi, T.3    Sharpe, L.T.4    Deeb, S.S.5
  • 8
    • 0037452967 scopus 로고    scopus 로고
    • 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
    • Ueyama, H., Li, Y.-H., Fu, G.-L., Lertrit, P., Atchaneeyasakul, L.-o., Oda, S. et al. 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 (2003).
    • (2003) Proc. Natl. Acad. Sci. USA , vol.100 , pp. 3357-3362
    • Ueyama, H.1    Li, Y.-H.2    Fu, G.-L.3    Lertrit, P.4    Atchaneeyasakul, L.-O.5    Oda, S.6
  • 9
    • 0036295772 scopus 로고    scopus 로고
    • Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies
    • Ueyama, H., Kuwayama, S., Imai, H., Tanabe, S., Oda, S., Nishida, Y. et al. Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies. Biochem. Biophys. Res. Commun. 294, 205-209 (2002).
    • (2002) Biochem. Biophys. Res. Commun. , vol.294 , pp. 205-209
    • Ueyama, H.1    Kuwayama, S.2    Imai, H.3    Tanabe, S.4    Oda, S.5    Nishida, Y.6
  • 10
    • 77952882657 scopus 로고    scopus 로고
    • Protan color vision deficiency with a unique order of green-red as the first two genes of a visual pigment array
    • Ueyama, H., Tanabe, S., Muraki-Oda, S., Yamade, S. & Ohkubo, I. Protan color vision deficiency with a unique order of green-red as the first two genes of a visual pigment array. J. Hum. Genet. 51, 686-694 (2006).
    • (2006) J. Hum. Genet. , vol.51 , pp. 686-694
    • Ueyama, H.1    Tanabe, S.2    Muraki-Oda, S.3    Yamade, S.4    Ohkubo, I.5
  • 11
    • 0024552624 scopus 로고
    • Molecular patterns of X chromosome-linked color vision genes among 134 men of European ancestry
    • Drummond-Borg, M., Deeb, S. S. & Motulsky, A. G. Molecular patterns of X chromosome-linked color vision genes among 134 men of European ancestry. Proc. Natl. Acad. Sci. USA 86, 983-987 (1989).
    • (1989) Proc. Natl. Acad. Sci. USA , vol.86 , pp. 983-987
    • Drummond-Borg, M.1    Deeb, S.S.2    Motulsky, A.G.3
  • 12
    • 0035149761 scopus 로고    scopus 로고
    • Number and variations of the red and green visual pigment genes in Japanese men with normal color vision
    • DOI 10.1016/S0021-5155(00)00298-7, PII S0021515500002987
    • Hayashi, S., Ueyama, H., Tanabe, S., Yamade, S. & Kani, K. Number and variations of the red and green visual pigment genes in Japanese men with normal color vision. Jpn. J. Ophthalmol. 45, 60-67 (2001). (Pubitemid 32036674)
    • (2001) Japanese Journal of Ophthalmology , vol.45 , Issue.1 , pp. 60-67
    • Hayashi, S.1    Ueyama, H.2    Tanabe, S.3    Yamade, S.4    Kani, K.5
  • 13
    • 0032932046 scopus 로고    scopus 로고
    • Position of a ?green-red? hybrid gene in the visual pigment array determines colour-vision phenotype
    • Hayashi, T., Motulsky, A. G. & Deeb, S. S. Position of a ?green-red? hybrid gene in the visual pigment array determines colour-vision phenotype. Nat. Genet. 22, 90-93 (1999).
    • (1999) Nat. Genet. , vol.22 , pp. 90-93
    • Hayashi, T.1    Motulsky, A.G.2    Deeb, S.S.3
  • 14
    • 12244286334 scopus 로고    scopus 로고
    • Analysis of L-cone/M-cone visual pigment gene arrays in females by long-range PCR
    • Oda, S., Ueyama, H., Nishida, Y., Tanabe, S. & Yamade, S. Analysis of L-cone/M-cone visual pigment gene arrays in females by long-range PCR. Vision Res. 43, 489-495 (2003).
    • (2003) Vision Res. , vol.43 , pp. 489-495
    • Oda, S.1    Ueyama, H.2    Nishida, Y.3    Tanabe, S.4    Yamade, S.5
  • 15
    • 0030443032 scopus 로고    scopus 로고
    • Sequence and evolutionary history of the length polymorphism in intron 1 of the human red photopigment gene
    • Meagher, M. J., Jorgensen, A. L. & Deeb, S. S. Sequence and evolutionary history of the length polymorphism in intron 1 of the human red photopigment gene. J. Mol. Evol. 43, 622-630 (1996).
    • (1996) J. Mol. Evol. , vol.43 , pp. 622-630
    • Meagher, M.J.1    Jorgensen, A.L.2    Deeb, S.S.3
  • 16
    • 0025166002 scopus 로고
    • Molecular genetics of X chromosome-linked color vision among populations of African and Japanese ancestry: High frequency of a shortened red pigment gene among Afro-Americans
    • Jørgensen, A. L., Deeb, S. S. & Motulsky, A. G. Molecular genetics of X chromosome-linked color vision among populations of African and Japanese ancestry: high frequency of a shortened red pigment gene among Afro-Americans. Proc. Natl. Acad. Sci. USA 87, 6512-6516 (1990).
    • (1990) Proc. Natl. Acad. Sci. USA , vol.87 , pp. 6512-6516
    • Jørgensen, A.L.1    Deeb, S.S.2    Motulsky, A.G.3
  • 17
    • 4143144168 scopus 로고    scopus 로고
    • Signatures of selection and gene conversion associated with human color vision variation
    • Verrelli, B. C. & Tishkoff, S. A. Signatures of selection and gene conversion associated with human color vision variation. Am. J. Hum. Genet. 75, 363-375 (2004).
    • (2004) Am. J. Hum. Genet. , vol.75 , pp. 363-375
    • Verrelli, B.C.1    Tishkoff, S.A.2
  • 18
    • 0031976811 scopus 로고    scopus 로고
    • Functional analysis of the promoters of the human red and green visual pigment genes
    • Shaaban, S. A. & Deeb, S. S. Functional analysis of the promoters of the human red and green visual pigment genes. Invest. Ophthalmol. Vis. Sci. 39, 885-896 (1998).
    • (1998) Invest. Ophthalmol. Vis. Sci. , vol.39 , pp. 885-896
    • Shaaban, S.A.1    Deeb, S.S.2
  • 19
    • 0036207384 scopus 로고    scopus 로고
    • Listening to silence and understanding nonsense: Exonic mutations that affect splicing
    • Cartegni, L., Chew, S. L. & Krainer, A. R. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat. Rev. Genet. 3, 285-298 (2002).
    • (2002) Nat. Rev. Genet. , vol.3 , pp. 285-298
    • Cartegni, L.1    Chew, S.L.2    Krainer, A.R.3
  • 20
    • 0026806222 scopus 로고
    • A locus control region adjacent to the human red and green visual pigment genes
    • Wang, Y., Macke, J. P., Merbs, S. L., Zack, D. J., Klaunberg, B., Bennett, J. et al. A locus control region adjacent to the human red and green visual pigment genes. Neuron 9, 429-440 (1992).
    • (1992) Neuron , vol.9 , pp. 429-440
    • Wang, Y.1    MacKe, J.P.2    Merbs, S.L.3    Zack, D.J.4    Klaunberg, B.5    Bennett, J.6
  • 22
    • 0038181021 scopus 로고    scopus 로고
    • Estimates of L:M cone ratio from ERG flicker photometry and genetics
    • Carroll, J., Neitz, J. & Neitz, M. Estimates of L:M cone ratio from ERG flicker photometry and genetics. J. Vision 2, 531-542 (2002).
    • (2002) J. Vision , vol.2 , pp. 531-542
    • Carroll, J.1    Neitz, J.2    Neitz, M.3
  • 23
    • 0036063310 scopus 로고    scopus 로고
    • M-cone opsin gene number does not correlate with variation in L/M-cone sensitivity
    • Knau, H., Kremers, J., Schmidt, H.-J., Wolf, S., Wissinger, B. & Sharpe, L. T. M-cone opsin gene number does not correlate with variation in L/M-cone sensitivity. Vision Res. 42, 1888-1896 (2002).
    • (2002) Vision Res. , vol.42 , pp. 1888-1896
    • Knau, H.1    Kremers, J.2    Schmidt, H.-J.3    Wolf, S.4    Wissinger, B.5    Sharpe, L.T.6
  • 24
    • 0026895053 scopus 로고
    • Defective colour vison associated with a missense mutation in the human green visual pigment gene
    • Winderickx, J., Sanocki, E., Lindsey, D. T., Teller, D. Y., Motulsky, A. G. & Deeb, S. S. Defective colour vison associated with a missense mutation in the human green visual pigment gene. Nat. Genet. 1, 251-256 (1992).
    • (1992) Nat. Genet. , vol.1 , pp. 251-256
    • Winderickx, J.1    Sanocki, E.2    Lindsey, D.T.3    Teller, D.Y.4    Motulsky, A.G.5    Deeb, S.S.6
  • 25
    • 8344270954 scopus 로고    scopus 로고
    • Variety of genotypes in males diagnosed as dichromatic on a conventional clinical anomaloscope
    • Neitz, M., Carroll, J., Renner, A., Knau, H., Werner, J. S. & Neitz, J. Variety of genotypes in males diagnosed as dichromatic on a conventional clinical anomaloscope. Vis. Neurosci. 21, 205-216 (2004).
    • (2004) Vis. Neurosci. , vol.21 , pp. 205-216
    • Neitz, M.1    Carroll, J.2    Renner, A.3    Knau, H.4    Werner, J.S.5    Neitz, J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.