| First Author | Zhang T | Year | 2013 |
| Journal | FEBS Lett | Volume | 587 |
| Issue | 15 | Pages | 2430-4 |
| PubMed ID | 23792161 | Mgi Jnum | J:199152 |
| Mgi Id | MGI:5500960 | Doi | 10.1016/j.febslet.2013.06.012 |
| Citation | Zhang T, et al. (2013) A Phe-rich region in short-wavelength sensitive opsins is responsible for their aggregation in the absence of 11-cis-retinal. FEBS Lett 587(15):2430-4 |
| abstractText | Human blue and mouse S-opsin are prone to aggregation in the absence of 11-cis-retinal, which underlie the rapid cone degeneration in human patients and animal models of Leber congenital amaurosis (LCA). By in silico analysis and domain swapping experiments, we show that a Phe-rich region in short-wavelength sensitive (SWS) opsins, but not in medium/long-wavelength sensitive opsins, is responsible for SWS opsin aggregation. Mutagenesis studies suggest that Phe residues in this region are critical in mediating protein aggregation. Fusing the Phe-rich region of SWS opsins to GFP causes the latter to aggregate. Our findings suggest that new therapeutics can be designed to disrupt the Phe-rich region in preventing cone degeneration due to S-opsin aggregation in LCA. |
