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Molecular Genetics of Human Color Vision: The Genes Encoding Blue, Green, and Red Pigments
Abstract
Human color vision is based on three light-sensitive pigments. The isolation and sequencing of genomic and complementary DNA clones that encode the apoproteins of these three pigments are described. The deduced amino acid sequences show 41 ± 1 percent identity with rhodopsin. The red and green pigments show 96 percent mutual identity but only 43 percent identity with the blue pigment. Green pigment genes vary in number among color-normal individuals and, together with a single red pigment gene, are proposed to reside in a head-to-tail tandem array within the X chromosome.
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Buck, L., & Axel, R. (1991) · Cell · doi:10.1016/0092-8674(91)90418-x · Cited by 4,987
Allikmets, R., Singh, N., Sun, H., Shroyer, N. F., Hutchinson, A., Chidambaram, A., Gerrard, B., Baird, L., Stauffer, D., Peiffer, A., et al. (1997) · Nature Genetics · doi:10.1038/ng0397-236 · Cited by 1,435
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Provencio, I., Rodriguez, I. R., Jiang, G., Hayes, W. P., Moreira, E. F., & Rollag, M. D. (2000) · The Journal of Neuroscience · doi:10.1523/jneurosci.20-02-00600.2000 · Cited by 1,290
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Stankiewicz, P., & Lupski, J. R. (2010) · Annual Review of Medicine · doi:10.1146/annurev-med-100708-204735 · Cited by 1,201
Copy number variation in human health, disease, and evolution
Zhang, F., Gu, W., Hurles, M. E., & Lupski, J. R. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164217 · Cited by 1,207
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Mosser, J., Douar, A.-M., Sarde, C.-O., Kioschis, P., Feil, R., Moser, H., Poustka, A.-M., Mandel, J.-L., & Aubourg, P. (1993) · Nature · doi:10.1038/361726a0 · Cited by 1,202
Dacey, D. M., & Lee, B. B. (1994) · Nature · doi:10.1038/367731a0 · Cited by 582
Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retina
Swaroop, A., Kim, D., & Forrest, D. (2010) · Nature Reviews Neuroscience · doi:10.1038/nrn2880 · Cited by 560
Spectral tuning of pigments underlying red–green color vision
Neitz, M., Neitz, J., & Jacobs, G. H. (1991) · Science · doi:10.1126/science.1903559 · Cited by 382
The genetics of normal and defective color vision
Neitz, J., & Neitz, M. (2011) · Vision Research · doi:10.1016/j.visres.2010.12.002 · Cited by 377
Molecular determinants of human red/green color discrimination
Asenjo, A. B., Rim, J., & Oprian, D. D. (1994) · Neuron · doi:10.1016/0896-6273(94)90320-4 · Cited by 367
McBee, J. K., Palczewski, K., Baehr, W., & Pepperberg, D. R. (2001) · Progress in Retinal and Eye Research · doi:10.1016/s1350-9462(01)00002-7 · Cited by 366
Organization of the human trichromatic cone mosaic
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Baylor, D. A., Nunn, B. J., & Schnapf, J. L. (1987) · The Journal of Physiology · doi:10.1113/jphysiol.1987.sp016691 · Cited by 344
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Cremers, F. P. M., van de Pol, D. J. R., van Kerkhoff, L. P. M., Wieringa, B., & Ropers, H.-H. (1990) · Nature · doi:10.1038/347674a0 · Cited by 333
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Wang, Y., Macke, J. P., Merbs, S. L., Zack, D. J., Klaunberg, B., Bennett, J., Gearhart, J., & Nathans, J. (1992) · Neuron · doi:10.1016/0896-6273(92)90181-c · Cited by 325
Self-citationNathans, J. (1990) · Biochemistry · doi:10.1021/bi00493a034 · Cited by 323
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Menon, S. T., Han, M., & Sakmar, T. P. (2001) · Physiological Reviews · doi:10.1152/physrev.2001.81.4.1659 · Cited by 304
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Filipek, S., Stenkamp, R. E., Teller, D. C., & Palczewski, K. (2003) · Annual Review of Physiology · doi:10.1146/annurev.physiol.65.092101.142611 · Cited by 267
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Mancuso, K., Hauswirth, W. W., Li, Q., Connor, T. B., Kuchenbecker, J. A., Mauck, M. C., Neitz, J., & Neitz, M. (2009) · Nature · doi:10.1038/nature08401 · Cited by 265
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Bowmaker, J. K. (1998) · Eye · doi:10.1038/eye.1998.143 · Cited by 239
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Rattner, A., Smallwood, P. M., & Nathans, J. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.275.15.11034 · Cited by 207
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Ryder‐Cook, A. S., Sicinski, P., Thomas, K., Davies, K. E., Worton, R. G., Barnard, E. A., Darlison, M. G., & Barnard, P. J. (1988) · The EMBO Journal · doi:10.1002/j.1460-2075.1988.tb03165.x · Cited by 139
Stenkamp, R. E., Filipek, S., Driessen, C. A. G. G., Teller, D. C., & Palczewski, K. (2002) · Biochimica et Biophysica Acta (BBA) - Biomembranes · doi:10.1016/s0005-2736(02)00567-9 · Cited by 128
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Vollrath, D., Nathans, J., & Davis, R. W. (1988) · Science · doi:10.1126/science.2837827 · Cited by 127
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Veilleux, C. C., Louis, E. E., & Bolnick, D. A. (2013) · Molecular Biology and Evolution · doi:10.1093/molbev/mst058 · Cited by 103
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Smallwood, P. M., Ölveczky, B. P., Williams, G. L., Jacobs, G. H., Reese, B. E., Meister, M., & Nathans, J. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1934712100 · Cited by 89
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de Turco, E. B. R., Gordon, W. C., Peyman, G. A., & Bazan, N. G. (1990) · Journal of Neuroscience Research · doi:10.1002/jnr.490270413 · Cited by 39
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(2013) · Europe PMC (PubMed Central)
(1993) · Europe PMC (PubMed Central)
Metadata
- Authors
- Nathans, J., Thomas, D., & Hogness, D. S.
- Venue
- Science
- Published
- 1986-04-11
- Volume
- 232
- Issue
- 4747
- Pages
- 193-202
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2019875735
- Cited by
- 1,721
- References
- 0
- FWCI
- 29.84
- Type
- journal article
- Language
- en
- Open access
- closed
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