Mutations in the cone-rod homeobox gene are associated with the cone- rod dystrophy photoreceptor degeneration

Prabodha K. Swain, Shiming Chen, Qing Liang Wang, Louisa M. Affatigato, Caraline L. Coats, Kevin D. Brady, Gerald A. Fishman, Samuel G. Jacobson, Anand Swaroop, Edwin Stone, Paul A. Sieving, Donald J. Zack

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1329-1336
Number of pages8
JournalNeuron
Volume19
Issue number6
DOIs
StatePublished - Dec 1997

ASJC Scopus subject areas

  • Neuroscience(all)

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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, 19(6), 1329-1336. https://doi.org/10.1016/S0896-6273(00)80423-7