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QRX, a novel homeobox gene, modulates photoreceptor gene expression
Journal article   Open access   Peer reviewed

QRX, a novel homeobox gene, modulates photoreceptor gene expression

Qing-liang Wang, Shiming Chen, Noriko Esumi, Prabodh K Swain, Heidi S Haines, Guanghua Peng, B Michele Melia, Iain McIntosh, John R Heckenlively, Samuel G Jacobson, …
Human molecular genetics, Vol.13(10), pp.1025-1040
05/15/2004
DOI: 10.1093/hmg/ddh117
PMID: 15028672
url
https://doi.org/10.1093/hmg/ddh117View
Published (Version of record) Open Access

Abstract

A novel paired-like homeobox gene, designated as Qrx, was identified by a yeast one-hybrid screen using the bovine Rhodopsin promoter Ret-1 DNA regulatory element as bait. Qrx is preferentially expressed in both the outer and inner nuclear layers of the retina. Its homeodomain is nearly identical to that of Rx/Rax, a transcription factor that is essential for eye development, but it shares only limited homology elsewhere. Although Qrx and Rx/Rax show similar DNA binding properties in vitro, the two proteins demonstrate distinct target selectivity and functional behavior in promoter activity assays. QRX synergistically increases the transactivating function of the photoreceptor transcription factors Crx and NRL and it physically interacts with CRX. Qrx is present in the bovine and human genomes, but appears to be absent from the mouse genome. Nonetheless, a 5.8 kb upstream region of human QRX is capable of directing expression in presumptive photoreceptor precursor cells in transgenic mice. These results indicate that Qrx may be involved in modulating photoreceptor gene expression. In addition, the finding of rare heterozygous QRX sequence changes in three individuals with retinal degeneration raises the possibility that QRX may be involved in disease pathogenesis.
Retinal Diseases - genetics Homeodomain Proteins - metabolism Humans Molecular Sequence Data Genes, Homeobox - genetics Coatomer Protein - genetics Promoter Regions, Genetic - genetics DNA-Binding Proteins - metabolism Chromosomes, Human, Pair 9 - genetics Point Mutation - genetics Cattle Trans-Activators - genetics Response Elements - genetics Eye Proteins - genetics Amino Acid Sequence Gene Expression Regulation - genetics Chromosome Mapping Transcription Factors - genetics DNA-Binding Proteins - genetics Homeodomain Proteins - genetics DNA Footprinting Transcription Factors - metabolism Sequence Alignment Animals Rhodopsin - genetics Eye Proteins - metabolism Protein Binding Trans-Activators - metabolism Basic-Leucine Zipper Transcription Factors

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