New Insights Into Retinal Degenerative Diseases pp 255-267 | Cite as
The cGMP-Phosphodiesterase β-Subunit Gene
Abstract
Mutations in the protein-coding region of the gene encoding the (β-subunit of cyclic GMP-phosphodiesterase (β-PDE) cosegregate with retinal degeneration affecting humans1, mice2,3 and dogs4,5. Moveover, given that the exonic sequences are intact, the lack or the suboptimal expression of the β-PDE gene can cause alterations in phototransduction leading to photoreceptor functional and structural abnormalities. In light of the involvement of the β-PDE gene defects in the development of retinal disease, it is important to understand the events that regulate the expression of this gene in rod photoreceptors of the human retina.
Keywords
Retinal Degeneration Relative Luciferase Activity Galactosidase Activity Retinoblastoma Cell RPE65 GenePreview
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References
- 1.Farber, D. B., and M. Danciger, Identification of genes causing photoreceptor degenerations leading to blindness, Curr. Opin. Neurobiol 7(5), 666-673. (1997).PubMedCrossRefGoogle Scholar
- 2.Bowes, C., T. Li, M. Danciger, L. C. Baxter, M. L. Applebury, and D. B. Farber, Retinal degeneration in the rd mouse is caused by a defect in the β subunit of rod cGMP-phosphodiesterase, Nature 347(6294), 677-680 (1990).PubMedCrossRefGoogle Scholar
- 3.Pittler, S. J., and W. Baehr, Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase β subunit gene of the rd mouse, Proc. Natl Acad. Sci. USA 88(19), 8322-8326 (1991).PubMedCrossRefGoogle Scholar
- 4.Farber, D. B., J. S. Danciger, and G. Aguirre, The β subunit of cyclic GMP phosphodiesterase mRNA is deficient in canine rod-cone dysplasia 1, Neuron 9(2), 349-356 (1992).CrossRefGoogle Scholar
- 5.Suber, M. L., S. Pittler, N. Qin, G. Wright, V. Holcombe, R. Lee, C. Craft, R. Lolley, W. Baehr, and R. Hurwitz, Irish setter dogs affected with rod-cone dysplasia contain a nonsense mutation in the rod cyclic GMP phosphodiesterase β subunit gene., Proc. Natl. Acad. Sci. USA 90(9), 3968-3972 (1993).PubMedCrossRefGoogle Scholar
- 6.Di Polo, A., C. Bowes-Rickman, and D. B. Farber, Isolation and initial characterization of the 5’ flanking region of the human and murine cGMP phosphodiesterase β-subunit genes., Invest. Ophthalmol Vis. Sci. 37(4), 551-560 (1996).PubMedGoogle Scholar
- 7.Murre, C., G. Bain, M. A. van Dijk, I. Engel, B. A. Furnari, M. E. Massari, J. R. Matthews, M. W. Quong, R. R. Rivera, and M. H. Stuiver, Structure and function of helix-loop-helix proteins, Biochim. Biophys. Acta 1218(2), 129-35 (1994).PubMedCrossRefGoogle Scholar
- 8.Angel, P., and M. Karin, The role of Jun, Fos and the AP-1 complex in cell-proliferation and transformation, Biochim. Biophys. Acta 1072(2-3), 129-57 (1991).PubMedGoogle Scholar
- 9.Kerppola, T. K., and T. Curran, Maf and Nrl can bind to AP-1 sites and form heterodimers with Fos and Jun, Oncogene 9(3), 675-84 (1994).PubMedGoogle Scholar
- 10.Kerppola, T. K., and T. Curran, A conserved region adjacent to the basic domain is required for recognition of an extended DNA binding site by Maf/Nrl family proteins, Oncogene 9(11), 3149-58 (1994).PubMedGoogle Scholar
- 11.Briggs, M. R., J. T. Kadonaga, S. P. Bell, and R. Tjian, Purification and biochemical characterization of the promoter-specific transcription factor, Spl, Science 234(4772), 47-52 (1986).Google Scholar
- 12.Chen, S., Q. L. Wang, Z. Nie, H. Sun, G. Lennon, N. G. Copeland, D. J. Gilbert, N. A. Jenkins, and D. J. Zack, Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes, Neuron 19(5), 1017-30 (1997).PubMedCrossRefGoogle Scholar
- 13.Di Polo, A., and D. B. Farber, Rod photoreceptor-specific gene expression in human retinoblastoma cells, Proc. Natl Acad. Sci. USA 92(9), 4016-4020 (1995).PubMedCrossRefGoogle Scholar
- 14.Ogueta, S. B., A. Di Polo, J. G. Flannery, C. K. Yamashita, and D. B. Farber, The human cGMP-PDE beta-subunit promoter region directs expression of the gene to mouse photoreceptors, Invest. Ophthalmol. Vis. Sci. 41(13), 4059-4063. (2000).PubMedGoogle Scholar
- 15.Farber, D. B., and T. Shuster, in: The Retina: A Model for Cell Biology Studies, edited by R. Adler and D. B. Farber (Academic Press Inc., Orlando, Fl., 1986), pp. 239-296.CrossRefGoogle Scholar
- 16.Batni, S., S. S. Mani, C. Schlueter, M. Ji, and B. E. Knox, in: Methods in Enzymology; Vertebrate phototransduction and the visual cycle, Part B, edited by K. Palczewski (Academic Press Inc., San Diego, 2000), pp. 50-64.CrossRefGoogle Scholar
- 17.Di Polo, A., L. E. Lerner, and D. B. Farber, Transcriptional activation of the human rod cGMP-phosphodiesterase beta-subunit gene is mediated by an upstream AP-1 element, Nucleic Acids Res 25(19), 3863-7 (1997).PubMedCrossRefGoogle Scholar
- 18.Kozak, M., Recognition of AUG and alternative initiator codons is augmented by G in position +4 but is not generally affected by the nucleotides in positions +5 and +6, Embo Journal 16(9), 2482-92 (1997).PubMedCrossRefGoogle Scholar
- 19.DePonti-Zilli, L., A. Seiler-Tuyns, and B. M. Paterson, A 40-base-pair sequence in the 3’ end of the beta-actin gene regulates beta-actin mRNA transcription during myogenesis, Proc. Natl. Acad. Sci. USA 85(5), 1389- 93 (1988).PubMedCrossRefGoogle Scholar
- 20.Baker, E. J., in: mRNA metabolism & post-transcriptional gene regulation, edited by Harford, J. B., and D. R. Morris (Wiley-Liss, New York 1997), pp. 85-105.Google Scholar
- 21.Keene, J. D., Why is Hu where? Shuttling of early-response-gene messenger RNA subsets, Proc. Natl. Acad. Sci. USA 96(1), 5-7. (1999).PubMedCrossRefGoogle Scholar
- 22.Mayford, M., D. Baranes, K. Podsypanina, and E. R. Kandel, The 3’-untranslated region of CaMKII alpha is a cis-acting signal for the localization and translation of mRNA in dendrites, Proc. Natl. Acad. Sci. USA 93(23), 13250-5(1996).PubMedCrossRefGoogle Scholar
- 23.Wickens, M., P. Anderson, and R. J. Jackson, Life and death in the cytoplasm: messages from the 3’ end, Curr. Opin. in Genet. Devel 7(2), 220-32 (1997).CrossRefGoogle Scholar
- 24.Gray, N. K., and M. Wickens, Control of translation initiation in animals, Annu. Rev. Cell Dev. Biol. 14, 399-458 (1998).PubMedCrossRefGoogle Scholar
- 25.Jarzembowski, J. A., and J. S. Malter, Cytoplasmic fate of eukaryotic mRNA: identification and characterization of AU-binding proteins, Prog. Mol Subcell Biol. 18, 141-72 (1997).PubMedCrossRefGoogle Scholar
- 26.Spicher, A., O. M. Guichert, L. Duret, A. Aslanian, E. M. Sanjines, N. C. Denko, A. J. Giaccia, and H. M. Blau, Highly conserved RNA sequences that are sensors of environmental stress, Mol. Cell Biol. 18(12), 7371- 7382.(1998).PubMedGoogle Scholar
- 27.Liu, S. Y., and T. M. Redmond, Role of the 3’-untranslated region of RPE65 mRNA in the translational regulation of the RPE65 gene: identification of a specific translation inhibitory element, Arch. of Biochem. Biophys. 357(1), 37-44 (1998).CrossRefGoogle Scholar
- 28.Conne, B., A. Stutz, and J. D. Vassalli, The 3’ untranslated region of messenger RNA: A molecular ’hotspot’ for pathology?, Nature Medicine 6(6), 637-41 (2000).PubMedCrossRefGoogle Scholar
- 29.Chao, D. M., E. L. Gadbois, P. J. Murray, S. F. Anderson, M. S. Sonu, J. D. Parvin, and R. A. Young, A mammalian SRB protein associated with an RNA polymerase II holoenzyme, Nature 380(6569), 82-5 (1996).PubMedCrossRefGoogle Scholar