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The Transduction Channels of Rod and Cone Photoreceptors

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Visual Transduction and Non-Visual Light Perception

Part of the book series: Ophthalmology Research ((OPHRES))

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Notes

  1. 1.

    aThe human genome is comprised of six different CNG channel genes: CNGA1–4, CNGB1, and CNGB3. CNGA2, CNGA4, and CNGB1 encode for the CNG channel in olfactory receptor neurons. CNGB2 has not been assigned.

References

  1. Lamb, T. D., Pugh, E. N., Jr. (2000). Phototransduction in vertebrate rods and cones: molecular mechanisms of amplification, recovery and light adaptation. In: Handbook of biological physics (Stavenga, D. G., de Grip, W. J., Pugh, E. N., Jr., eds.), Vol. 3, pp. 183–254. Elsevier, Amsterdam.

    Google Scholar 

  2. Miller, J. L., Korenbrot, J. I. (1994). Differences in calcium homeostasis between retinal rod and cone photoreceptors revealed by the effects of voltage on the cGMP-gated conductance in intact cells. J Gen Physiol 104, 909–940.

    Article  PubMed  CAS  Google Scholar 

  3. Weitz, D., Zoche, M., Muller, F., Beyermann, M., Korschen, H. G., Kaupp, U. B., Koch, K. W. (1998). Calmodulin controls the rod photoreceptor CNG channel through an unconventional binding site in the N-terminus of the beta-subunit. EMBO J 17, 2273–2284.

    Article  PubMed  CAS  Google Scholar 

  4. Rebrik, T. I., Korenbrot, J. I. (1998). In intact cone photoreceptors, a Ca2+-dependent, diffusible factor modulates the cGMP-gated ion channels differently than in rods. J Gen Physiol 112, 537–548.

    Article  PubMed  CAS  Google Scholar 

  5. Rieke, F., Schwartz, E. A. (1994). A cGMP-gated current can control exocytosis at cone synapses. Neuron 13, 863–873.

    Article  PubMed  CAS  Google Scholar 

  6. Savchenko, A., Barnes, S., Kramer, R. H. (1997). Cyclic-nucleotide-gated channels mediate synaptic feedback by nitric oxide. Nature 390, 694–698.

    PubMed  CAS  Google Scholar 

  7. Koch, K. W., Lambrecht, H. G., Haberecht, M., Redburn, D., Schmidt, H. H. (1994). Functional coupling of a Ca2+/calmodulin-dependent nitric oxide synthase and a soluble guanylyl cyclase in vertebrate photoreceptor cells. EMBO J 13, 3312–3320.

    PubMed  CAS  Google Scholar 

  8. Cook, N. J., Hanke, W., Kaupp, U. B. (1987). Identification, purification, and functional reconstitution of the cyclic GMP-dependent channel from rod photoreceptors. Proc Natl Acad Sci U S A 84, 585–589.

    Article  PubMed  CAS  Google Scholar 

  9. Kaupp, U. B., Niidome, T., Tanabe, T., Terada, S., Bonigk, W., Stuhmer, W., Cook, N. J., Kangawa, K., Matsuo, H., Hirose, T., et al. (1989). Primary structure and functional expression from complementary DNA of the rod photoreceptor cyclic GMP-gated channel. Nature 342, 762–766.

    Article  PubMed  CAS  Google Scholar 

  10. Jan, L. Y., Jan, Y. N. (1990). A superfamily of ion channels. Nature 345, 672.

    Article  PubMed  CAS  Google Scholar 

  11. Molday, L. L., Cook, N. J., Kaupp, U. B., Molday, R. S. (1990). The cGMP-gated cation channel of bovine rod photoreceptor cells is associated with a 240-kDa protein exhibiting immunochemical cross-reactivity with spectrin. J Biol Chem 265, 18690–18695.

    PubMed  CAS  Google Scholar 

  12. Chen, T. Y., Peng, Y. W., Dhallan, R. S., Ahamed, B., Reed, R. R., Yau, K. W. (1993). A new subunit of the cyclic nucleotide-gated cation channel in retinal rods. Nature 362, 764–767.

    Article  PubMed  CAS  Google Scholar 

  13. Korschen, H. G., Illing, M., Seifert, R., Sesti, F., Williams, A., Gotzes, S., Colville, C., Muller, F., Dose, A., Godde, M., et al. (1995). A 240 kDa protein represents the complete beta subunit of the cyclic nucleotide-gated channel from rod photoreceptor. Neuron 15, 627–636.

    Article  PubMed  CAS  Google Scholar 

  14. Bonigk, W., Altenhofen, W., Muller, F., Dose, A., Illing, M., Molday, R. S., Kaupp, U. B. (1993). Rod and cone photoreceptor cells express distinct genes for cGMP-gated channels. Neuron 10, 865–877.

    Article  PubMed  CAS  Google Scholar 

  15. Gerstner, A., Zong, X., Hofmann, F., Biel, M. (2000). Molecular cloning and functional characterization of a new modulatory cyclic nucleotide-gated channel subunit from mouse retina. J Neurosci 20, 1324–1332.

    PubMed  CAS  Google Scholar 

  16. Sundin, O. H., Yang, J. M., Li, Y., Zhu, D., Hurd, J. N., Mitchell, T. N., Silva, E. D., Maumenee, I. H. (2000). Genetic basis of total colourblindness among the Pingelapese islanders. Nat Genet 25, 289–293.

    Article  PubMed  CAS  Google Scholar 

  17. Kohl, S., Baumann, B., Broghammer, M., Jagle, H., Sieving, P., Kellner, U., Spegal, R., Anastasi, M., Zrenner, E., Sharpe, L. T., Wissinger, B. (2000). Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum Mol Genet 9, 2107–2116.

    Article  PubMed  CAS  Google Scholar 

  18. Weitz, D., Ficek, N., Kremmer, E., Bauer, P. J., Kaupp, U. B. (2002). Subunit stoichiometry of the CNG channel of rod photoreceptors. Neuron 36, 881–889.

    Article  PubMed  CAS  Google Scholar 

  19. Zheng, J., Trudeau, M. C., Zagotta, W. N. (2002). Rod cyclic nucleotide-gated channels have a stoichiometry of three CNGA1 subunits and one CNGB1 subunit. Neuron 36, 891–896.

    Article  PubMed  CAS  Google Scholar 

  20. Zhong, H., Molday, L. L., Molday, R. S., Yau, K. W. (2002). The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry. Nature 420, 193–198.

    Article  PubMed  CAS  Google Scholar 

  21. Peng, C., Rich, E. D., Varnum, M. D. (2004). Subunit configuration of heteromeric cone cyclic nucleotide-gated channels. Neuron 42, 401–410.

    Article  PubMed  CAS  Google Scholar 

  22. Doyle, D. A., Morais Cabral, J., Pfuetzner, R. A., Kuo, A., Gulbis, J. M., Cohen, S. L., Chait, B. T., MacKinnon, R. (1998). The structure of the potassium channel: molecular basis of K+ conduction and selectivity. Science 280, 69–77.

    Article  PubMed  CAS  Google Scholar 

  23. Higgins, M. K., Weitz, D., Warne, T., Schertler, G. F., Kaupp, U. B. (2002). Molecular architecture of a retinal cGMP-gated channel: the arrangement of the cytoplasmic domains. EMBO J 21, 2087–2094.

    Article  PubMed  CAS  Google Scholar 

  24. Molokanova, E., Krajewski, J. L., Satpaev, D., Luetje, C. W., Kramer, R. H. (2003). Subunit contributions to phosphorylation-dependent modulation of bovine rod cyclic nucleotide-gated channels. J Physiol 552, 345–356.

    Article  PubMed  CAS  Google Scholar 

  25. Peng, C., Rich, E. D., Varnum, M. D. (2003). Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels. J Biol Chem 278, 34533–34540.

    Article  PubMed  CAS  Google Scholar 

  26. Trankner, D., Jagle, H., Kohl, S., Apfelstedt-Sylla, E., Sharpe, L. T., Kaupp, U. B., Zrenner, E., Seifert, R., Wissinger, B. (2004). Molecular basis of an inherited form of incomplete achromatopsia. J Neurosci 24, 138–147.

    Article  PubMed  CAS  Google Scholar 

  27. Ruiz, M., Brown, R. L., He, Y., Haley, T. L., Karpen, J. W. (1999). The single-channel dose-response relation is consistently steep for rod cyclic nucleotide-gated channels: implications for the interpretation of macroscopic dose-response relations. Biochemistry 38, 10642– 10648.

    Article  PubMed  CAS  Google Scholar 

  28. Molday, R. S., Molday, L. L., Dose, A., Clark-Lewis, I., Illing, M., Cook, N. J., Eismann, E., Kaupp, U. B. (1991). The cGMP-gated channel of the rod photoreceptor cell characterization and orientation of the amino terminus. J Biol Chem 266, 21917–21922.

    PubMed  CAS  Google Scholar 

  29. Wohlfart, P., Haase, W., Molday, R. S., Cook, N. J. (1992). Antibodies against synthetic peptides used to determine the topology and site of glycosylation of the cGMP-gated channel from bovine rod photoreceptors. J Biol Chem 267, 644–648.

    PubMed  CAS  Google Scholar 

  30. Henn, D. K., Baumann, A., Kaupp, U. B. (1995). Probing the transmembrane topology of cyclic nucleotide-gated ion channels with a gene fusion approach. Proc Natl Acad Sci U S A 92, 7425–7429.

    Article  PubMed  CAS  Google Scholar 

  31. Kaupp, U. B., Seifert, R. (2002). Cyclic nucleotide-gated ion channels. Physiol Rev 82, 769–824.

    PubMed  CAS  Google Scholar 

  32. Varnum, M. D., Black, K. D., Zagotta, W. N. (1995). Molecular mechanism for ligand discrimination of cyclic nucleotide-gated channels. Neuron 15, 619–25.

    Article  PubMed  CAS  Google Scholar 

  33. Mazzolini, M., Punta, M., Torre, V. (2002). Movement of the C-helix during the gating of cyclic nucleotide-gated channels. Biophys J 83, 3283–3295.

    Article  PubMed  CAS  Google Scholar 

  34. Trudeau, M. C., Zagotta, W. N. (2002). Mechanism of calcium/calmodulin inhibition of rod cyclic nucleotide-gated channels. Proc Natl Acad Sci U S A 99, 8424–8429.

    Article  PubMed  CAS  Google Scholar 

  35. Peng, C., Rich, E. D., Thor, C. A., Varnum, M. D. (2003). Functionally important calmodulin-binding sites in both NH2- and COOH-terminal regions of the cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit. J Biol Chem 278, 24617–24623.

    Article  PubMed  CAS  Google Scholar 

  36. Menini, A. (1990). Currents carried by monovalent cations through cyclic GMP-activated channels in excised patches from salamander rods. J Physiol 424, 167–185.

    PubMed  CAS  Google Scholar 

  37. Picones, A., Korenbrot, J. I. (1992). Permeation and interaction of monovalent cations with the cGMP-gated channel of cone photoreceptors. J Gen Physiol 100, 647–673.

    Article  PubMed  CAS  Google Scholar 

  38. Morrill, J. A., MacKinnon, R. (1999). Isolation of a single carboxyl-carboxylate proton binding site in the pore of a cyclic nucleotide-gated channel. J Gen Physiol 114, 71–83.

    Article  PubMed  CAS  Google Scholar 

  39. Bodoia, R. D., Detwiler, P. B. (1985). Patch-clamp recordings of the light-sensitive dark noise in retinal rods from the lizard and frog. J Physiol 367, 183–216.

    PubMed  CAS  Google Scholar 

  40. Haynes, L. W., Kay, A. R., Yau, K. W. (1986). Single cyclic GMP-activated channel activity in excised patches of rod outer segment membrane. Nature 321, 66–70.

    Article  PubMed  CAS  Google Scholar 

  41. Seifert, R., Eismann, E., Ludwig, J., Baumann, A., Kaupp, U. B. (1999). Molecular determinants of a Ca2+-binding site in the pore of cyclic nucleotide-gated channels: S5/S6 segments control affinity of intrapore glutamates. EMBO J 18, 119–130.

    Article  PubMed  CAS  Google Scholar 

  42. Eismann, E., Muller, F., Heinemann, S. H., Kaupp, U. B. (1994). A single negative charge within the pore region of a cGMP-gated channel controls rectification, Ca2+ blockage, and ionic selectivity. Proc Natl Acad Sci U S A 91, 1109–1113.

    Article  PubMed  CAS  Google Scholar 

  43. Korschen, H. G., Beyermann, M., Muller, F., Heck, M., Vantler, M., Koch, K. W., Kellner, R., Wolfrum, U., Bode, C., Hofmann, K. P., Kaupp, U. B. (1999). Interaction of glutamic-acid-rich proteins with the cGMP signalling pathway in rod photoreceptors. Nature 400, 761–766.

    Article  PubMed  CAS  Google Scholar 

  44. Poetsch, A., Molday, L. L., Molday, R. S. (2001). The cGMP-gated channel and related glutamic acid-rich proteins interact with peripherin-2 at the rim region of rod photoreceptor disc membranes. J Biol Chem 276, 48009–40016.

    PubMed  CAS  Google Scholar 

  45. Batra-Safferling, R., Abarca-Heidemann, K., Korschen, H. G., Tziatzios, C., Stoldt, M., Bud-yak, I., Willbold, D., Schwalbe, H., Klein-Seetharaman, J., Kaupp, U. B. (2006). Glutamic acid-rich proteins of rod photoreceptors are natively unfolded. J Biol Chem 281, 1449– 1460.

    Article  PubMed  CAS  Google Scholar 

  46. Karpen, J. W., Loney, D. A., Baylor, D. A. (1992). Cyclic GMP-activated channels of salamander retinal rods: spatial distribution and variation of responsiveness. J Physiol 448, 257–274.

    PubMed  CAS  Google Scholar 

  47. Huttl, S., Michalakis, S., Seeliger, M., Luo, D. G., Acar, N., Geiger, H., Hudl, K., Mader, R., Haverkamp, S., Moser, M., Pfeifer, A., Gerstner, A., Yau, K. W., Biel, M. (2005). Impaired channel targeting and retinal degeneration in mice lacking the cyclic nucleotide-gated channel subunit CNGB1. J Neurosci 25, 130–138.

    Article  PubMed  CAS  Google Scholar 

  48. Kang, K., Bauer, P. J., Kinjo, T. G., Szerencsei, R. T., Bonigk, W., Winkfein, R. J., Schnetkamp, P. P. (2003). Assembly of retinal rod or cone Na(+)/Ca(2+)-K(+) exchanger oligomers with cGMP-gated channel subunits as probed with heterologously expressed cDNAs. Biochemistry 42, 4593–4600.

    Article  PubMed  CAS  Google Scholar 

  49. Molokanova, E., Kramer, R. H. (2001). Mechanism of inhibition of cyclic nucleotide-gated channel by protein tyrosine kinase probed with genistein. J Gen Physiol 117, 219–234.

    Article  PubMed  CAS  Google Scholar 

  50. Gordon, S. E., Brautigan, D. L., Zimmerman, A. L. (1992). Protein phosphatases modulate the apparent agonist affinity of the light-regulated ion channel in retinal rods. Neuron 9, 739–748.

    Article  PubMed  CAS  Google Scholar 

  51. Muller, F., Vantler, M., Weitz, D., Eismann, E., Zoche, M., Koch, K. W., Kaupp, U. B. (2001). Ligand sensitivity of the 2 subunit from the bovine cone cGMP-gated channel is modulated by protein kinase C but not by calmodulin. J Physiol 532, 399–409.

    Article  PubMed  CAS  Google Scholar 

  52. Ko, G. Y., Ko, M. L., Dryer, S. E. (2001). Circadian regulation of cGMP-gated cationic channels of chick retinal cones. Erk MAP Kinase and Ca2+/calmodulin-dependent protein kinase II. Neuron 29, 255–266.

    Article  PubMed  CAS  Google Scholar 

  53. McCabe, S. L., Pelosi, D. M., Tetreault, M., Miri, A., Nguitragool, W., Kovithvathanaphong, P., Mahajan, R., Zimmerman, A. L. (2004). All-trans-retinal is a closed-state inhibitor of rod cyclic nucleotide-gated ion channels. J Gen Physiol 123, 521–531.

    Article  PubMed  CAS  Google Scholar 

  54. Molday, R. S., Reid, D. M., Connell, G., Molday, L. L. (1992). Molecular properties of the cGMP-gated cation channel of rod photoreceptor cells as probed with monoclonal antibodies. In: Signal transduction in photoreceptor cells (Hargrave, P. A., Hofmann, K. P., Kaupp, U. B., eds.), pp. 180. Springer-Verlag, Berlin.

    Google Scholar 

  55. Faillace, M. P., Bernabeu, R. O., Korenbrot, J. I. (2004). Cellular processing of cone photore-ceptor cyclic GMP-gated ion channels: a role for the S4 structural motif. J Biol Chem 279, 22643–22653.

    Article  PubMed  CAS  Google Scholar 

  56. Patel, K. A., Bartoli, K. M., Fandino, R. A., Ngatchou, A. N., Woch, G., Carey, J., Tanaka, J. C. (2005). Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel. Invest Ophthalmol Vis Sci 46, 2282–2290.

    Article  PubMed  Google Scholar 

  57. Dryja, T. P., Finn, J. T., Peng, Y. W., McGee, T. L., Berson, E. L., Yau, K. W. (1995). Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc Natl Acad Sci U S A 92, 10177–10181.

    Article  PubMed  CAS  Google Scholar 

  58. Mallouk, N., Ildefonse, M., Pages, F., Ragno, M., Bennett, N. (2002). Basis for intracellular retention of a human mutant of the retinal rod channel alpha subunit. J Membr Biol 185, 129–136.

    Article  PubMed  CAS  Google Scholar 

  59. Trudeau, M. C., Zagotta, W. N. (2002). An intersubunit interaction regulates trafficking of rod cyclic nucleotide-gated channels and is disrupted in an inherited form of blindness. Neuron 34, 197–207.

    Article  PubMed  CAS  Google Scholar 

  60. Jenkins, P. M., Hurd, T. W., Zhang, L., McEwen, D. P., Brown, R. L., Margolis, B., Verhey, K. J., Martens, J. R. (2006). Ciliary targeting of olfactory CNG channels requires the CNGB1b subunit and the kinesin-2 motor protein, KIF17. Curr Biol 16, 1211–1216.

    Article  PubMed  CAS  Google Scholar 

  61. Paloma, E., Martinez-Mir, A., Garcia-Sandoval, B., Ayuso, C., Vilageliu, L., Gonzalez-Duarte, R., Balcells, S. (2002). Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa. J Med Genet 39, E66.

    Article  PubMed  CAS  Google Scholar 

  62. Bareil, C., Hamel, C. P., Delague, V., Arnaud, B., Demaille, J., Claustres, M. (2001). Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa. Hum Genet 108, 328–334.

    Article  PubMed  CAS  Google Scholar 

  63. Wissinger, B., Gamer, D., Jagle, H., Giorda, R., Marx, T., Mayer, S., Tippmann, S., Brog-hammer, M., Jurklies, B., Rosenberg, T., Jacobson, S. G., Sener, E. C., Tatlipinar, S., Hoyng, C. B., Castellan, C., Bitoun, P., Andreasson, S., Rudolph, G., Kellner, U., Lorenz, B., Wolff, G., Verellen-Dumoulin, C., Schwartz, M., Cremers, F. P., Apfelstedt-Sylla, E., Zrenner, E., Salati, R., Sharpe, L. T., Kohl, S. (2001). CNGA3 mutations in hereditary cone photoreceptor disorders. Am J Hum Genet 69, 722–737.

    Article  PubMed  CAS  Google Scholar 

  64. Johnson, S., Michaelides, M., Aligianis, I. A., Ainsworth, J. R., Mollon, J. D., Maher, E. R., Moore, A. T., Hunt, D. M. (2004). Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. J Med Genet 41, e20.

    Article  PubMed  CAS  Google Scholar 

  65. Rojas, C. V., Maria, L. S., Santos, J. L., Cortes, F., Alliende, M. A. (2002). A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate. Eur J Hum Genet 10, 638–642.

    Article  PubMed  CAS  Google Scholar 

  66. Okada, A., Ueyama, H., Toyoda, F., Oda, S., Ding, W. G., Tanabe, S., Yamade, S., Matsuura, H., Ohkubo, I., Kani, K. (2004). Functional role of hCngb3 in regulation of human cone cng channel: effect of rod monochromacy-associated mutations in hCNGB3 on channel function. Invest Ophthalmol Vis Sci 45, 2324–2332.

    Article  PubMed  Google Scholar 

  67. Nishiguchi, K. M., Sandberg, M. A., Gorji, N., Berson, E. L., Dryja, T. P. (2005). Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. Hum Mutat 25, 248–258.

    Article  PubMed  CAS  Google Scholar 

  68. Goto-Omoto, S., Hayashi, T., Gekka, T., Kubo, A., Takeuchi, T., Kitahara, K. (2006). Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia. Vis Neurosci 23, 395–402.

    Article  PubMed  Google Scholar 

  69. Kohl, S., Varsanyi, B., Antunes, G. A., Baumann, B., Hoyng, C. B., Jagle, H., Rosenberg, T., Kellner, U., Lorenz, B., Salati, R., Jurklies, B., Farkas, A., Andreasson, S., Weleber, R. G., Jacobson, S. G., Rudolph, G., Castellan, C., Dollfus, H., Legius, E., Anastasi, M., Bitoun, P., Lev, D., Sieving, P. A., Munier, F. L., Zrenner, E., Sharpe, L. T., Cremers, F. P., Wissinger, B. (2005). CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet 13, 302–308.

    Article  PubMed  CAS  Google Scholar 

  70. Bright, S. R., Brown, T. E., Varnum, M. D. (2005). Disease-associated mutations in CNGB3 produce gain of function alterations in cone cyclic nucleotide-gated channels. Mol Vis 11, 1141–1150.

    PubMed  CAS  Google Scholar 

  71. Liu, C., Varnum, M. D. (2005). Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit. Am J Physiol Cell Physiol 289, C187–C198.

    Article  PubMed  CAS  Google Scholar 

  72. Brown, R. L., Haley, T. L., West, K. A., Crabb, J. W. (1999). Pseudechetoxin: a peptide blocker of cyclic nucleotide-gated ion channels. Proc Natl Acad Sci U S A 96, 754–759.

    Article  PubMed  CAS  Google Scholar 

  73. Dryja, T. P., Finn, J. T., Peng, Y. W., McGee, T. L., Berson, E. L., Yau, K. W. (1995). Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc Natl Acad Sci U S A 92, 10177–10181.

    Article  PubMed  CAS  Google Scholar 

  74. Paloma, E., Martinez-Mir, A., Garcia-Sandoval, B., Ayuso, C., Vilageliu, L., Gonzalez-Duarte, R., Balcells, S. (2002). Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa. J Med Genet 39, E66.

    Article  PubMed  CAS  Google Scholar 

  75. Bareil, C., Hamel, C. P., Delague, V., Arnaud, B., Demaille, J., Claustres, M. (2001). Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa. Hum Genet 108, 328–334.

    Article  PubMed  CAS  Google Scholar 

  76. Pierce, E. A. (2001). Pathways to photoreceptor cell death in inherited retinal degenerations. Bioessays 23, 605–618.

    Article  PubMed  CAS  Google Scholar 

  77. Rattner, A., Sun, H., Nathans, J. (1999). Molecular genetics of human retinal disease. Annu Rev Genet 33, 89–131.

    Article  PubMed  CAS  Google Scholar 

  78. Sharpe, L. T., Nordby, K. (1990). Total Colorblindness: An Introduction. In: Night vision: basic clinical and applied aspects (Hess, R. F., Sharpe, L. T., Nordby, K., eds.), pp. 253. Cambridge University Press, Cambridge, UK.

    Google Scholar 

  79. Sharpe, L. T., Stockman, A., Jägle, H., Nathans, J. (1999). Opsin genes, cone photopigments, color vision and colorblindness. In: Color vision: from genes to perception (Gegenfurtner, K. R., Sharpe, L. T., eds.), p. 3. Cambridge University Press, Cambridge, UK.

    Google Scholar 

  80. Kohl, S., Varsanyi, B., Antunes, G. A., Baumann, B., Hoyng, C. B., Jagle, H., Rosenberg, T., Kellner, U., Lorenz, B., Salati, R., Jurklies, B., Farkas, A., Andreasson, S., Weleber, R. G., Jacobson, S. G., Rudolph, G., Castellan, C., Dollfus, H., Legius, E., Anastasi, M., Bitoun, P., Lev, D., Sieving, P. A., Munier, F. L., Zrenner, E., Sharpe, L. T., Cremers, F. P., Wissinger, B. (2005). CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet 13, 302–308.

    Article  PubMed  CAS  Google Scholar 

  81. Wissinger, B., Gamer, D., Jagle, H., Giorda, R., Marx, T., Mayer, S., Tippmann, S., Brog-hammer, M., Jurklies, B., Rosenberg, T., Jacobson, S. G., Sener, E. C., Tatlipinar, S., Hoyng, C. B., Castellan, C., Bitoun, P., Andreasson, S., Rudolph, G., Kellner, U., Lorenz, B., Wolff, G., Verellen-Dumoulin, C., Schwartz, M., Cremers, F. P., Apfelstedt-Sylla, E., Zrenner, E., Salati, R., Sharpe, L. T., Kohl, S. (2001). CNGA3 mutations in hereditary cone photoreceptor disorders. Am J Hum Genet 69, 722–737.

    Article  PubMed  CAS  Google Scholar 

  82. Mallouk, N., Ildefonse, M., Pages, F., Ragno, M., Bennett, N. (2002). Basis for intracellular retention of a human mutant of the retinal rod channel alpha subunit. J Membr Biol 185, 129–136.

    Article  PubMed  CAS  Google Scholar 

  83. Trudeau, M. C., Zagotta, W. N. (2002). An intersubunit interaction regulates trafficking of rod cyclic nucleotide-gated channels and is disrupted in an inherited form of blindness. Neuron 34, 197–207.

    Article  PubMed  CAS  Google Scholar 

  84. Zagotta, W. N., Olivier, N. B., Black, K. D., Young, E. C., Olson, R., Gouaux, E. (2003). Structural basis for modulation and agonist specificity of HCN pacemaker channels. Nature 425, 200–205.

    Article  PubMed  CAS  Google Scholar 

  85. Johnson, S., Michaelides, M., Aligianis, I. A., Ainsworth, J. R., Mollon, J. D., Maher, E. R., Moore, A. T., Hunt, D. M. (2004). Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. J Med Genet 41, e20.

    Article  PubMed  CAS  Google Scholar 

  86. Rojas, C. V., Maria, L. S., Santos, J. L., Cortes, F., Alliende, M. A. (2002). A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate. Eur J Hum Genet 10, 638–642.

    Article  PubMed  CAS  Google Scholar 

  87. Nishiguchi, K. M., Sandberg, M. A., Gorji, N., Berson, E. L., Dryja, T. P. (2005). Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. Hum Mutat 25, 248–258.

    Article  PubMed  CAS  Google Scholar 

  88. Goto-Omoto, S., Hayashi, T., Gekka, T., Kubo, A., Takeuchi, T., Kitahara, K. (2006). Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia. Vis Neurosci 23, 395–402.

    Article  PubMed  Google Scholar 

  89. Winick, J. D., Blundell, M. L., Galke, B. L., Salam, A. A., Leal, S. M., Karayiorgou, M. (1999). Homozygosity mapping of the Achromatopsia locus in the Pingelapese. Am J Hum Genet 64, 1679–1685.

    Article  PubMed  CAS  Google Scholar 

  90. Milunsky, A., Huang, X. L., Milunsky, J., DeStefano, A., Baldwin, C. T. (1999). A locus for autosomal recessive achromatopsia on human chromosome 8q. Clin Genet 56, 82–85.

    Article  PubMed  CAS  Google Scholar 

  91. Sacks, O. W. (1997). The island of the colorblind and Cycad Island. Knopf, New York.

    Google Scholar 

  92. Kohl, S., Baumann, B., Broghammer, M., Jagle, H., Sieving, P., Kellner, U., Spegal, R., Anastasi, M., Zrenner, E., Sharpe, L. T., Wissinger, B. (2000). Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum Mol Genet 9, 2107–2116.

    Article  PubMed  CAS  Google Scholar 

  93. Sundin, O. H., Yang, J. M., Li, Y., Zhu, D., Hurd, J. N., Mitchell, T. N., Silva, E. D., Maum-enee, I. H. (2000). Genetic basis of total colourblindness among the Pingelapese islanders. Nat Genet 25, 289–293.

    Article  PubMed  CAS  Google Scholar 

  94. Okada, A., Ueyama, H., Toyoda, F., Oda, S., Ding, W. G., Tanabe, S., Yamade, S., Matsuura, H., Ohkubo, I., Kani, K. (2004). Functional role of hCngb3 in regulation of human cone cng channel: effect of rod monochromacy-associated mutations in hCNGB3 on channel function. Invest Ophthalmol Vis Sci 45, 2324–2332.

    Article  PubMed  Google Scholar 

  95. Faillace, M. P., Bernabeu, R. O., Korenbrot, J. I. (2004). Cellular processing of cone photo receptor cyclic GMP-gated ion channels: a role for the S4 structural motif. J Biol Chem 279, 22643–22653.

    Article  PubMed  CAS  Google Scholar 

  96. Patel, K. A., Bartoli, K. M., Fandino, R. A., Ngatchou, A. N., Woch, G., Carey, J., Tanaka, J. C. (2005). Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel. Invest Ophthalmol Vis Sci 46, 2282–2290.

    Article  PubMed  Google Scholar 

  97. Huttl, S., Michalakis, S., Seeliger, M., Luo, D. G., Acar, N., Geiger, H., Hudl, K., Mader, R., Haverkamp, S., Moser, M., Pfeifer, A., Gerstner, A., Yau, K. W., Biel, M. (2005). Impaired channel targeting and retinal degeneration in mice lacking the cyclic nucleotide-gated channel subunit CNGB1. J Neurosci 25, 130–138.

    Article  PubMed  CAS  Google Scholar 

  98. Sidjanin, D. J., Lowe, J. K., McElwee, J. L., Milne, B. S., Phippen, T. M., Sargan, D. R., Aguirre, G. D., Acland, G. M., Ostrander, E. A. (2002). Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. Hum Mol Genet 11, 1823–1833.

    Article  PubMed  CAS  Google Scholar 

  99. Trankner, D., Jagle, H., Kohl, S., Apfelstedt-Sylla, E., Sharpe, L. T., Kaupp, U. B., Zrenner, E., Seifert, R., Wissinger, B. (2004). Molecular basis of an inherited form of incomplete achromatopsia. J Neurosci 24, 138–147.

    Article  PubMed  CAS  Google Scholar 

  100. Liu, C., Varnum, M. D. (2005). Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit. Am J Physiol Cell Physiol 289, C187–C198.

    Article  PubMed  CAS  Google Scholar 

  101. Bright, S. R., Brown, T. E., Varnum, M. D. (2005). Disease-associated mutations in CNGB3 produce gain of function alterations in cone cyclic nucleotide-gated channels. Mol Vis 11, 1141–1150.

    PubMed  CAS  Google Scholar 

  102. Peng, C., Rich, E. D., Varnum, M. D. (2003). Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels. J Biol Chem 278, 34533–34540.

    Article  PubMed  CAS  Google Scholar 

  103. Brown, R. L., Haley, T. L., West, K. A., Crabb, J. W. (1999). Pseudechetoxin: a peptide blocker of cyclic nucleotide-gated ion channels. Proc Natl Acad Sci U S A 96, 754–759.

    Article  PubMed  CAS  Google Scholar 

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Tränkner, D. (2008). The Transduction Channels of Rod and Cone Photoreceptors. In: Tombran-Tink, J., Barnstable, C.J. (eds) Visual Transduction and Non-Visual Light Perception. Ophthalmology Research. Humana Press. https://doi.org/10.1007/978-1-59745-374-5_10

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