Structural analysis of disease-causing mutations in NR2E3.

Abstract

<p><b>A</b>. List of reported NR2E3 mutations found in patients with various eye diseases. ESCS: enhanced S-cone sensitivity syndrome, CPRD: clumped pigmentary retinal degeneration, ARRP: autosomal recessive retinitis pigmentosa. <b>B</b>. NR2E3 LBD mutations found in patients mapped on the receptor. The view is presented similar to the orientation shown in Figure 2C. <b>C</b>. Effects of eye disease mutations on NR2E3 repressor activity. Left panel: Reporter gene expression of Gal4DBD–NR2E3LBD wildtype and mutant proteins. Right panel: Expression levels of wildtype and mutant Gal4DBD–NR2E3LBD determined by immunoblotting.</p