ABCMdb

PMID: 12881418

Chan KW, Zhang H, Logothetis DE
N-terminal transmembrane domain of the SUR controls trafficking and gating of Kir6 channel subunits.
EMBO J. 2003 Aug 1;22(15):3833-43., [PubMed]

Sentences

No. Mutations Sentence Comment

4 ABCC8 p.Val187Asp ABCC8 p.Ala116Pro Using Xenopus oocytes to coexpress truncated SUR constructs with Kir6, we demonstrated by immunoprecipitation, single-oocyte chemiluminescence and electrophysiological measurements that the TMD0 of SUR1 strongly associated with Kir6.2 and modulated its traf®cking and gating. Two TMD0 mutations, A116P and V187D, previously correlated with persistent hyperinsulinemic hypoglycemia of infancy, were found to disrupt the association between TMD0 and Kir6.2. Login to comment 147 ABCC8 p.Val187Asp ABCC8 p.Ala116Pro Two PHHI mutations located in TMD0 abolish its association with 6.2 Two TMD0 mutations, A116P and V187D, have been reported to cause PHHI (Aguilar-Bryan and Bryan, 1999; Otonkoski et al., 1999). Login to comment 215 ABCC8 p.Val187Asp ABCC8 p.Ala116Pro Two PHHI mutations located in TMD0, A116P and V187D disrupt the association between TMD0 and 6.2. Login to comment 216 ABCC8 p.Val187Asp ABCC8 p.Ala116Pro (A) A116P and V187D mutations completely abolish the total current expressed from TMD0+6.2HA. Login to comment 218 ABCC8 p.Val187Asp ABCC8 p.Ala116Pro (B) A116P and V187D mutations completely abolish the ability of TMD0 to enhance the surface expression of 6.2D26. Login to comment 220 ABCC8 p.Val187Asp ABCC8 p.Ala116Pro (C) A116P and V187D mutations completely abolish the ability of TMD0 to traf®c to the cell surface. Login to comment 222 ABCC8 p.Val187Asp ABCC8 p.Ala116Pro (D) A116P and V187D mutations disrupt the association between TMD0 and 6.2. Login to comment 232 ABCC8 p.Val187Asp ABCC8 p.Ala116Pro PHHI mutations affect KATP channels by disrupting the function of TMD0 Two mutations, A116P and V187D, have been reported to correlate with PHHI (Aguilar-Bryan and Bryan, 1999; Otonkoski et al., 1999). Login to comment 234 ABCC8 p.Val187Asp ABCC8 p.Ala116Pro While detailed analysis of A116P has not been reported, V187D has been shown to abolish the function of the pancreatic KATP channels both in native b cells and when expressed in Xenopus oocytes (Otonkoski et al., 1999). Login to comment 249 ABCC8 p.Val187Asp ABCC8 p.Ala116Pro Four nanograms of SUR1, 1 ng of TMD0 [including F195, F195(A116P), F195(V187D), TMD0*, 1±195, S2-TMD0 and MRP1-TMD0*], 3 ng of F196-917, 3 ng of 918M and 2 ng of Kir6 (including various 6.2 and 6.1 constructs) RNAs were used in independent or coexpression experiments for TEVC, macropatch recording, western blotting and immunoprecipitation. Login to comment