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

doi:10.1016/S0896-6273(00)80423-7

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Mutations in the Cone-Rod Homeobox Gene Are Associated with the Cone-Rod Dystrophy Photoreceptor Degeneration

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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, …

Neuron (Cambridge, Mass.), Vol.19(6), pp.1329-1336

12/1997

DOI: 10.1016/S0896-6273(00)80423-7

PMID: 9427255

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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. Introduction

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Title: Subtitle: Mutations in the Cone-Rod Homeobox Gene Are Associated with the Cone-Rod Dystrophy Photoreceptor Degeneration
Creators: 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
Resource Type: Journal article
Publication Details: Neuron (Cambridge, Mass.), Vol.19(6), pp.1329-1336
DOI: 10.1016/S0896-6273(00)80423-7
PMID: 9427255
ISSN: 0896-6273
eISSN: 1097-4199
Language: English
Date published: 12/1997
Academic Unit: The University of Iowa Institute for Vision Research; Iowa Neuroscience Institute; John and Marcia Carver Nonprofit Genetic Testing Laboratory; Ophthalmology and Visual Sciences
Record Identifier: 9984070200702771

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