@article{f0c2d1be3dc64ee99f1569ef1960c00b,
title = "Mutations in the cone-rod homeobox gene are associated with the cone- rod dystrophy photoreceptor degeneration",
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.",
author = "Swain, {Prabodha K.} and Shiming Chen and Wang, {Qing Liang} and Affatigato, {Louisa M.} and Coats, {Caraline L.} and Brady, {Kevin D.} and Fishman, {Gerald A.} and Jacobson, {Samuel G.} and Anand Swaroop and Edwin Stone and Sieving, {Paul A.} and Zack, {Donald J.}",
note = "Funding Information: We thank Cynthia Wolberger for useful discussions on homeodomain structure; Jason Cook, Mitch Gillette, and David Hanna for technical assistance; and Thomas N. Mitchell for assistance with the lod score calculation. This work was supported in part by grants from the National Institutes of Health (EY11115, EY06094, EY10539, EY05627, and EY09769), the Foundation Fighting Blindness, unrestricted funds from Research to Prevent Blindness, Inc., the Grousbeck Family Foundation, and the Rebecca P. Moon, Charles M. Moon, Jr., and Dr. P. Thomas Manchester Research Fund. We also acknowledge NIH grants EY07003 and EY01765 (CORE), M01-RR00042 (General Clinical Research Center), and a Shared Equipment Grant from the Office of Vice President for Research. S. C. is the recipient of an award from the Knights Templar Foundation. A. S. is recipient of a Lew R. Wasserman Merit Award, and D. J. Z. is a recipient of a Career Development Award, both from Research to Prevent Blindness, Inc. ",
year = "1997",
month = dec,
doi = "10.1016/S0896-6273(00)80423-7",
language = "English",
volume = "19",
pages = "1329--1336",
journal = "Neuron",
issn = "0896-6273",
number = "6",
}