| First Author | Vera E | Year | 2019 |
| Journal | Biochem Biophys Res Commun | Volume | 514 |
| Issue | 3 | Pages | 574-579 |
| PubMed ID | 31056263 | Mgi Jnum | J:291096 |
| Mgi Id | MGI:6442892 | Doi | 10.1016/j.bbrc.2019.04.169 |
| Citation | Vera E, et al. (2019) A novel Kir7.1 splice variant expressed in various mouse tissues shares organisational and functional properties with human Leber amaurosis-causing mutations of this K(+) channel. Biochem Biophys Res Commun 514(3):574-579 |
| abstractText | Kir7.1 is an inwardly rectifying K(+) channel present in epithelia where it shares membrane localization with the Na(+)/K(+)-pump. In the present communication we report the presence of a novel splice variant of Kir7.1 in mouse tissues including kidney, lung, choroid plexus and retinal pigment epithelium (RPE). The variant named mKir7.1-SV2 lacks most of the C-terminus domain but is predicted to have the two transmembrane domains and permeation pathway unaffected. Similarly truncated predicted proteins, Kir7.1-R166X and Kir7.1-Q219X, would arise from mutations associated with Leber Congenital Amaurosis, a rare recessive hereditary retinal disease that results in vision loss at early age. We found that mKir7.1-SV2 and the pathological variants do not produce any channel activity when expressed alone in HEK-293cells due to their scarce presence in the plasma membrane. Simultaneous expression with the full length Kir7.1 however leads to a reduction in activity of the wild-type channel that might be due to partial proteasome degradation of WT-mutant channel heteromers. |
