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Mutations in the Cone-Rod Homeobox Gene Are Associated with the Cone-Rod Dystrophy Photoreceptor Degeneration
Open accessAbstract
Crx is a novel paired-like homeodomain protein that is expressed predominantly in retinal photoreceptors and pinealocytes. Its gene has been mapped to chromosome 19q13.3, the site of a disease locus for autosomal dominant cone-rod dystrophy (CORDII). Analysis of the proband from a family with autosomal dominant CORD revealed an Arg41Trp substitution in the third residue of the CRX homeodomain. The sequence change cosegregated with the disease phenotype and was not detected in 247 normal controls. Recombinant CRX homeodomain containing the Arg41Trp substitution showed decreased DNA binding activity. Analysis of another 169 CORD probands identified three additional CRX sequence variations (Arg41Gln, Val242Met, and a 4 bp deletion in codons 196/7) that were not found among the controls. This data suggests that mutations in the CRX gene are associated with photoreceptor degeneration and that the Crx protein is necessary for the maintenance of normal cone and rod function.
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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
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
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
Structure of cone photoreceptors
Mustafi, D., Engel, A. H., & Palczewski, K. (2009) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2009.05.003 · Cited by 275
Cheng, H. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh173 · Cited by 268
Metadata
- Authors
- Swain, P. K., Chen, S., Wang, Q.-L., Affatigato, L. M., Coats, C. L., Brady, K. D., Fishman, G. A., Jacobson, S. G., Swaroop, A., Stone, E., Sieving, P. A., & Zack, D. J.
- Venue
- Neuron
- Publisher
- Elsevier BV
- Published
- 1997-12
- Volume
- 19
- Issue
- 6
- Pages
- 1329-1336
- ISSN
- 0896-6273 (ISSN-L)
- OpenAlex
- W2077909999
- Cited by
- 270
- References
- 0
- FWCI
- 5.74
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- CoChat. (2026). Citation check: Mutations in the Cone-Rod Homeobox Gene Are Associated with the Cone-Rod Dystrophy Photoreceptor Degeneration. https://app.cochat.ai/papers/10.1016/s0896-6273(00)80423-7
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- Swain, P. K., Chen, S., Wang, Q.-L., Affatigato, L. M., Coats, C. L., Brady, K. D., Fishman, G. A., Jacobson, S. G., Swaroop, A., Stone, E., Sieving, P. A., & Zack, D. J. (1997). Mutations in the Cone-Rod Homeobox Gene Are Associated with the Cone-Rod Dystrophy Photoreceptor Degeneration. Neuron. https://doi.org/10.1016/s0896-6273(00)80423-7
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