The DOI matches its Crossref record; 32 of the 32 references it cites were found in a registry or an index.
A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment
Open accessAbstract
Over 45 mutations in the rhodopsin gene have been identified in patients with autosomal dominant retinitis pigmentosa, including a cluster near the extreme carboxy-terminus, a region of the protein for which no function has yet been assigned. To elucidate the biochemical defect(s) in this group of mutants, we have studied a naturally occurring stop codon mutation that removes the last five amino acids of rhodopsin (Q344ter). When produced in transfected tissue culture cells, the mutant protein is indistinguishable from the wild type in light- dependent activation of the photoreceptor G-protein (transducin), and in serving as a light-dependent substrate for rhodopskin kinase. Mice that express a Q344ter transgene in rod photoreceptors show nearly normal light responses as determined by suction electrode recordings of the membrane current from single rod outer segments; the main difference between transgenic and nontransgenic responses is a 15% longer time-to-peak in the response of transgenic rods. In the Q344ter transgenic retina, direct immunofluorescent staining with antibodies specific for either wild-type or Q344ter rhodopsin shows abnormal accumulation of the Q344ter, but not the endogenous rhodopsin, in the plasma membrane of the photoreceptor cell body. These data indicate that rhodopsin's carboxy-terminus is required for efficient transportation to or retention in the outer segment.
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Cites
Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
Chomczynski, P., & Sacchi, N. (1987) · Analytical Biochemistry · doi:10.1016/0003-2697(87)90021-2 · Cited by 46,426
Wilden, U., Hall, S. W., & Kühn, H. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.5.1174 · Cited by 791
Apoptosis: Final common pathway of photoreceptor death in rd, rds, and mutant mice
Chang, G.-Q., Hao, Y., & Wong, F. (1993) · Neuron · doi:10.1016/0896-6273(93)90072-y · Cited by 648
Apoptotic photoreceptor cell death in mouse models of retinitis pigmentosa.
Portera-Cailliau, C., Sung, C. H., Nathans, J., & Adler, R. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.3.974 · Cited by 625
Self-citationMcLaughlin, M. E., Sandberg, M. A., Berson, E. L., & Dryja, T. P. (1993) · Nature Genetics · doi:10.1038/ng0693-130 · Cited by 596
Mutations within the Rhodopsin Gene in Patients with Autosomal Dominant Retinitis Pigmentosa
Dryja, T. P., McGee, T. L., Hahn, L. B., Cowley, G. S., Olsson, J. E., Reichel, E., Sandberg, M. A., & Berson, E. L. (1990) · New England Journal of Medicine · doi:10.1056/nejm199011083231903 · Cited by 501
Isolation and nucleotide sequence of the gene encoding human rhodopsin.
Nathans, J., & Hogness, D. S. (1984) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.81.15.4851 · Cited by 499
Self-citationMutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa
Kajiwara, K., Hahn, L. B., Mukai, S., Travis, G. H., Berson, E. L., & Dryja, T. P. (1991) · Nature · doi:10.1038/354480a0 · Cited by 471
Rhodopsin mutations in autosomal dominant retinitis pigmentosa.
Sung, C. H., Davenport, C. M., Hennessey, J. C., Maumenee, I. H., Jacobson, S. G., Heckenlively, J. R., Nowakowski, R., Fishman, G., Gouras, P., & Nathans, J. (1991) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.88.15.6481 · Cited by 461
Self-citationOlsson, J. E., Gordon, J. W., Pawlyk, B. S., Roof, D., Hayes, A., Molday, R. S., Mukai, S., Cowley, G. S., Berson, E. L., & Dryja, T. P. (1992) · Neuron · doi:10.1016/0896-6273(92)90236-7 · Cited by 455
Cited by
G Protein–Coupled Receptor Rhodopsin
Palczewski, K. (2006) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.75.103004.142743 · Cited by 764
Rhodopsin: Structural Basis of Molecular Physiology
Menon, S. T., Han, M., & Sakmar, T. P. (2001) · Physiological Reviews · doi:10.1152/physrev.2001.81.4.1659 · Cited by 304
G Protein-Coupled Receptor Rhodopsin: A Prospectus
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
A comprehensive review of retinal gene therapy
Boye, S. E., Boye, S. L., Lewin, A. S., & Hauswirth, W. W. (2013) · Molecular Therapy · doi:10.1038/mt.2012.280 · Cited by 262
Visual pigment: G-protein-coupled receptor for light signals
Shichida, Y., & Imai, H. (1998) · Cellular and Molecular Life Sciences (CMLS) · doi:10.1007/s000180050256 · Cited by 242
Metadata
- Authors
- Sung, C., Makino, C., Baylor, D., & Nathans, J.
- Venue
- The Journal of Neuroscience
- Publisher
- Society for Neuroscience
- Published
- 1994-10-01
- Volume
- 14
- Issue
- 10
- Pages
- 5818-5833
- ISSN
- 0270-6474 (ISSN-L)
- 1529-2401
- OpenAlex
- W1866273988
- Cited by
- 342
- References
- 32
- FWCI
- 4.53
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Sung, C., Makino, C., Baylor, D., & Nathans, J. (1994). A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment. The Journal of Neuroscience. https://doi.org/10.1523/jneurosci.14-10-05818.1994
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