Abstract
MUTANT mice homozygous for 'retinal degeneration slow' (rds/rds) are characterized phenotypically by abnormal development of photoreceptor outer segments in the retina, followed by gradual degeneration of photoreceptors1–3. This process of degeneration is complete by one year, with preservation of all other retinal cells4. The biochemical defect that leads to the mutant phenotype is not known. Our strategy for cloning the rds gene was based upon three previously reported observations. First, the rds locus maps to chromosome 175,6. Second, experimental rds/rds ↦+/+ and rds/+ ↦ +/+ tetra-parental mice manifest patchy photoreceptor changes in the retina7,8 suggesting that the wild-type rds locus is expressed within cells of the photoreceptor lineage. Finally, the process of degeneration is specific to photore-ceptors. On the basis of these observations, we predicted that the rds mRNA is encoded by a gene on chromosome 17 and is normally expressed exclusively within photoreceptors in the retina. We here present evidence that this is the case.
Similar content being viewed by others
References
Sanyal, S. & Jansen, H. Neurosci. Lett. 21, 23–26 (1981).
Cohen, A. I. Invest. Ophthalmol. Vis. Sci. 24, 832–843 (1983).
Jansen, H. G. & Sanyal, S. J. comp. Neurol. 224, 71–84 (1984).
Sanyal, S., DeRuiter, A. & Hawkins, R. K. J. comp. Neurol. 194, 193–198 (1980).
Van Nie, R., Ivanyi, D. & Demant, P. Tissue Antigens 12, 106–108 (1978).
Demant, P., Ivanyi, D. & Van Nie, R. Tissue Antigens 13, 53–56 (1979).
Sanyal, S. & Zeilmaker, G. H. Expl Eye Res. 39, 231–246 (1984).
Sanyal, S., Dees, C. & Zeilmaker, G. H. J. Embryol. exp. Morph. 98, 111–121 (1986).
Tansley, K. J. Hered. 45, 123–127 (1954).
Sidman, R. L. & Green, M. C. J. Hered. 56, 23–29 (1965).
LaVail, M. M. & Sidman, R. L. Archs Ophthal. 91, 394–400 (1974).
Carter-Dawson, L. D., LaVail, M. M. & Sidman, R. L. Invest. Ophthalmol. Vis. Sci. 17, 489–498 (1978).
Travis, G. H. & Sutcliffe, J. G. Proc. natn. Acad. Sci. U.S.A. 85, 1696–1700 (1988).
Hoggan, M. D., Halden, N. F., Buckler, C. E. & Kozak, C. A. J. Virol. 62, 1055–1056 (1988).
Birnstiel, M. L., Busslinger, M. & Strub, K. Cell 41, 349–359 (1985).
Proudfoot, N. J. & Brownlee, G. G. Nature 263, 211–214 (1976).
Southern, E.M. J. molec. Biol. 98, 503–517 (1975).
Danielson, P. E. et al. DNA 7, 261–267 (1988).
Chirgwin, J. M., Przybyla, A. E., MacDonald, R. J. & Rutter, W. J. Biochemistry 18, 5294–5299 (1979).
Aviv, H. & Leder, P. Proc. natn. Acad. Sci. U.S.A. 69, 1408–1412 (1972).
Thomas, P. S. Proc. natn. Acad. Sci. U.S.A. 77, 5201–5205 (1980).
Feinberg, A. P. & Vogeletein, B. Analyt. Biochem. 132, 6–13 (1983).
Brow, M. A. D., Pesin, R. & Sutcliffe, J. G. Molec. Biol. Evol. 2, 1–12 (1985).
Maxam, A. M. & Gilbert, W. Proc. natn. Acad. Sci. U.S.A. 74, 560–564 (1977).
Giorgi, C., Blumberg, B. & Kolakofsky, D. Cell 35, 829–836 (1983).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Travis, G., Brennan, M., Danielson, P. et al. Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). Nature 338, 70–73 (1989). https://doi.org/10.1038/338070a0
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1038/338070a0
- Springer Nature Limited
This article is cited by
-
Longitudinal assessment of retinal structure and function reveals a rod-cone degeneration in a guinea pig model initially presented as night blind
Documenta Ophthalmologica (2011)
-
A novel mutation in Prph2, a gene regulated by Nr2e3, causes retinal degeneration and outer-segment defects similar to Nr2e3 rd7/rd7 retinas
Mammalian Genome (2008)