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. 2009 Oct 12;4(10):e7379. doi: 10.1371/journal.pone.0007379

Figure 7. Hypotheses about transcriptional activities of NR2E3.

Figure 7

A) In the “normal” situation, wild-type NR2E3 activates rod-specific genes (rhodopsin promoter) and represses cone-specific genes (M-opsin and S-opsin promoter) in concert with CRX and NRL. B') In ESCS patients, rhodopsin expression appears not to be affected in the presence of the p.R311Q LBD mutant protein. The molecular mechanism is unknown, but may involve posttranslational modifications or differential binding to cofactors. However, repression of cone genes is released, because interaction of the p.R311Q mutant protein with its co-repressor is impaired [4]. B″) In ESCS patients carrying mutations in the DBD, in the absence of DNA binding, NR2E3 does not potentiate CRX/NRL-mediated rhodopsin transactivation and does not repress cone-specific gene expression. C) In adRP patients, the p.G56R mutant protein acts as a repressor in trans of CRX-mediated photoreceptor-specfic gene expression. WT: wild type; 311Q: p.R311Q; mut*: p.R76Q, p.R104W; mut°: p.R76W, p.G88V, p.R97H, p.R104Q; 56R: p.G56R.