ABCMdb

PMID: 12578973

Ostedgaard LS, Randak C, Rokhlina T, Karp P, Vermeer D, Ashbourne Excoffon KJ, Welsh MJ
Effects of C-terminal deletions on cystic fibrosis transmembrane conductance regulator function in cystic fibrosis airway epithelia.
Proc Natl Acad Sci U S A. 2003 Feb 18;100(4):1937-42. Epub 2003 Feb 10., 2003-02-18 [PubMed]

Sentences

No. Mutations Sentence Comment

7 ABCC7 p.Ser1455* ABCC7 p.Gln1412* Deletion of 26 C-terminal residues by the S1455X mutation was associated with elevated sweat Cl- concentrations, but not other manifestations of CF (4), whereas deletion of the last 70 residues by the Q1412X mutation caused CF (C. J. Taylor, personal communication). Login to comment 116 ABCC7 p.Asp1425* A study in planar lipid bilayers reported little effect on open-state probability (Po) of D1425X or shorter deletions (22). Login to comment 117 ABCC7 p.Ser1455* ABCC7 p.Gln1412* In addition, whole-cell patch-clamp studies of BHK-21 and IB3-1 cells reported that the S1455X mutation had no effect on current, but the Q1412X mutation reduced current by 90% (4, 19). Login to comment 118 ABCC7 p.Phe1437* In cell-attached patches, the F1437X deletion was reported to increase open and closed times (5). Login to comment 184 ABCC7 p.Ser1455* ABCC7 p.Asp1425* These findings are consistent with previous reports that maturation and degradation of C-terminally truncated CFTR (S1455X and D1425X) is similar to WT in COS and BHK cells (19-21). Login to comment 248 ABCC7 p.Ser1455* The S1455X was associated with an elevated sweat Cl-concentration, but not airway or pancreatic disease (4), and the 1476X deletion was found in a person with congenital bilateral absence of the vas deferens (personal communication, M. Claustres, Montpellier, France). Login to comment 249 ABCC7 p.Gln1412* In contrast, the much longer Q1412X deletion appeared to cause CF. Login to comment