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Cone-Rod Dystrophy Due to Mutations in a Novel Photoreceptor-Specific Homeobox Gene () Essential for Maintenance of the Photoreceptor
Open accessAbstract
Genes associated with inherited retinal degeneration have been found to encode proteins required for phototransduction, metabolism, or structural support of photoreceptors. Here we show that mutations in a novel photoreceptor-specific homeodomain transcription factor gene (CRX) cause an autosomal dominant form of cone-rod dystrophy (adCRD) at the CORD2 locus on chromosome 19q13. In affected members of a CORD2-linked family, the highly conserved glutamic acid at the first position of the recognition helix is replaced by alanine (E80A). In another CRD family, a 1 bp deletion (E168 [delta1 bp]) within a novel sequence, the WSP motif, predicts truncation of the C-terminal 132 residues of CRX. Mutations in the CRX gene cause adCRD either by haploinsufficiency or by a dominant negative effect and demonstrate that CRX is essential for the maintenance of mammalian photoreceptors.
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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
Cited by
Leber congenital amaurosis: Genes, proteins and disease mechanisms
den Hollander, A. I., Roepman, R., Koenekoop, R. K., & Cremers, F. P. M. (2008) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2008.05.003 · Cited by 811
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
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies
Sohocki, M. M., Daiger, S. P., Bowne, S. J., Rodriquez, J. A., Northrup, H., Heckenlively, J. R., Birch, D. G., Mintz-Hittner, H., Ruiz, R. S., Lewis, R. A., et al. (2001) · Human Mutation · doi:10.1002/1098-1004(2001)17:1<42::aid-humu5>3.0.co;2-k · Cited by 329
Chen, D., Livne-bar, I., Vanderluit, J. L., Slack, R. S., Agochiya, M., & Bremner, R. (2004) · Cancer Cell · doi:10.1016/j.ccr.2004.05.025 · Cited by 281
Sullivan, L. S., Bowne, S. J., Birch, D. G., Hughbanks-Wheaton, D., Heckenlively, J. R., Lewis, R. A., Garcia, C. A., Ruiz, R. S., Blanton, S. H., Northrup, H., et al. (2006) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.05-1443 · Cited by 284
Metadata
- Authors
- Freund, C. L., Gregory-Evans, C. Y., Furukawa, T., Papaioannou, M., Looser, J., Ploder, L., Bellingham, J., Ng, D., Herbrick, J.-A. S., Duncan, A., Scherer, S. W., Tsui, L.-C., Loutradis-Anagnostou, A., Jacobson, S. G., Cepko, C. L., Bhattacharya, S. S., & McInnes, R. R.
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 1997-11
- Volume
- 91
- Issue
- 4
- Pages
- 543-553
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W2027066480
- Cited by
- 565
- References
- 1
- FWCI
- 11.25
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- CoChat. (2026). Citation check: Cone-Rod Dystrophy Due to Mutations in a Novel Photoreceptor-Specific Homeobox Gene () Essential for Maintenance of the Photoreceptor. https://app.cochat.ai/papers/10.1016/s0092-8674(00)80440-7
- The paper
- Freund, C. L., Gregory-Evans, C. Y., Furukawa, T., Papaioannou, M., Looser, J., Ploder, L., Bellingham, J., Ng, D., Herbrick, J.-A. S., Duncan, A., Scherer, S. W., Tsui, L.-C., Loutradis-Anagnostou, A., Jacobson, S. G., Cepko, C. L., Bhattacharya, S. S., & McInnes, R. R. (1997). Cone-Rod Dystrophy Due to Mutations in a Novel Photoreceptor-Specific Homeobox Gene () Essential for Maintenance of the Photoreceptor. Cell. https://doi.org/10.1016/s0092-8674(00)80440-7
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
