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- Oxford University Press
- Copyright
- Copyright © 2015 Oxford University Press
- ISSN
- 0964-6906
- eISSN
- 1460-2083
- DOI
- 10.1093/hmg/8.2.299
- Publisher site
- See Article on Publisher Site
Abstract
The CRX (cone-rod homeobox) gene is specifically expressed in developing and mature photoreceptors and encodes an otd/Otx-like paired homeodomain protein. Mutant alleles of the CRX gene have recently been associated with autosomal dominant cone-rod dystrophy (CORD) as well as dominant Leber congenital amaurosis (LCA). Since LCA is more commonly inherited in an autosomal recessive manner, we examined a cohort of recessive LCA patients for CRXmutations. A homozygous substitution of arginine (R) at codon 90 by tryptophan (W) was identified in the CRX homeodomain of one of the probands who was nearly blind from birth. A group of 48 control individuals and 190 previously characterized CORD probands did not reveal this sequence change. The mutant CRX R90W homeodomain demonstrated decreased binding to the previously identified cis sequence elements in the rhodopsin promoter. In transient transfection experiments, the mutant protein showed significantly reduced ability to transactivate the rhodopsin promoter, as well as lower synergistic activation with the bZIP transcription factor NRL. Heterozygosity of the mutant CRX (R90W) allele was detected in both parents and in an older sibling. Ophthalmologic examination and electroretinography revealed a subtle abnormality of cone function in both the parents. These data suggest that the R90W mutation results in a CRX protein with reduced DNA binding and transcriptional regulatory activity and that the subsequent changes in photoreceptor gene expression lead to the very early onset severe visual impairment in LCA. © 1999 Oxford University Press « Previous | Next Article » Table of Contents This Article Hum. Mol. Genet. (1999) 8 (2): 299-305. doi: 10.1093/hmg/8.2.299 » Abstract Free Full Text (HTML) Free Full Text (PDF) Free Classifications Article Services Article metrics Alert me when cited Alert me if corrected Find similar articles Similar articles in Web of Science Similar articles in PubMed Add to my archive Download citation Request Permissions Citing Articles Load citing article information Citing articles via CrossRef Citing articles via Scopus Citing articles via Web of Science Citing articles via Google Scholar Google Scholar Articles by Swaroop, A. Articles by Sieving, P. A. Search for related content PubMed PubMed citation Articles by Swaroop, A. Articles by Wang, Q. L. Articles by Wu, W. Articles by Cook, J. Articles by Coats, C. Articles by Xu, S. Articles by Chen, S. Articles by Zack, D. J. Articles by Sieving, P. A. Related Content Load related web page information Share Email this article CiteULike Delicious Facebook Google+ Mendeley Twitter What's this? 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Journal
Human Molecular Genetics – Oxford University Press
Published: Feb 1, 1999