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Nucleic Acids Res 2008 Nov 01;3620:6523-34. doi: 10.1093/nar/gkn737.
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CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene.

Langmann T , Lai CC , Weigelt K , Tam BM , Warneke-Wittstock R , Moritz OL , Weber BH .

X-linked juvenile retinoschisis is a heritable condition of the retina in males caused by mutations in the RS1 gene. Still, the cellular function and retina-specific expression of RS1 are poorly understood. To address the latter issue, we characterized the minimal promoter driving expression of RS1 in the retina. Binding site prediction, site-directed mutagenesis, and reporter assays suggest an essential role of two nearby cone-rod homeobox (CRX)-responsive elements (CRE) in the proximal -177/+32 RS1 promoter. Chromatin immunoprecipitation associates the RS1 promoter in vivo with CRX, the coactivators CBP, P300, GCN5 and acetylated histone H3. Transgenic Xenopus laevis expressing a green fluorescent protein (GFP) reporter under the control of RS1 promoter sequences show that the -177/+32 fragment drives GFP expression in photoreceptors and bipolar cells. Mutating either of the two conserved CRX binding sites results in strongly decreased RS1 expression. Despite the presence of sequence motifs in the promoter, NRL and NR2E3 appear not to be essential for RS1 expression. Together, our in vitro and in vivo results indicate that two CRE sites in the minimal RS1 promoter region control retinal RS1 expression and establish CRX as a key factor driving this expression.

PubMed ID: 18927113
PMC ID: PMC2582616
Article link: Nucleic Acids Res

Species referenced: Xenopus laevis
Genes referenced: crebbp crx ep300 kat2a nr2e3 nrl otx2 pde6a rs1 zic1
Antibodies: Wheat Germ Agglutinin

Article Images: [+] show captions
References [+] :
Akimoto, Targeting of GFP to newborn rods by Nrl promoter and temporal expression profiling of flow-sorted photoreceptors. 2006, Pubmed