ABCMdb

PMID: 10820156

Claass A, Sommer M, de Jonge H, Kalin N, Tummler B
Applicability of different antibodies for immunohistochemical localization of CFTR in sweat glands from healthy controls and from patients with cystic fibrosis.
J Histochem Cytochem. 2000 Jun;48(6):831-7., [PubMed]

Sentences

No. Mutations Sentence Comment

33 ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* Materials and Methods Tissue Samples Full-thickness skin biopsies were taken from the right shoulder of six healthy volunteers, four ⌬F508 homozygous CF patients, and four patients bearing two nonsense mutations within the CFTR gene (G542X/G542X; nϭ2; R553X/ R553X; and G542X/W1282X). Login to comment 113 ABCC7 p.Arg553* ABCC7 p.Arg553* M3A7 (at very low dilution of 1:50; Aa) labeling of R553X/R553X patient`s sweat gland does not exceed isotype control (Ab). Login to comment 114 ABCC7 p.Gly542* ABCC7 p.Gly542* No signals are observed with MATG 1104 (1:2400; Ba) in G542X/ G542X tissue; isotype control (Bb). Login to comment 115 ABCC7 p.Trp1282* ABCC7 p.Gly542* G542X/W1282X is shown with cc24 (1:100; Ca; specific peptide competition, Cb); again, no labeling above the negative control is observed. Login to comment 116 ABCC7 p.Arg553* ABCC7 p.Arg553* MATG 1061 (1:100, Da, on R553X/R553X; isotype control IgG2a, Db) labels luminal epitopes in sweat glands and periglandular connective tissue. Login to comment 130 ABCC7 p.Arg553* ABCC7 p.Gly542* Although overreading of stop codons has been reported to occur in mammalian cells (McCaughan et al. 1995), ample evidence exists that the nonsense mutations R553X and G542X of the CFTR gene result in reduced to undetectable levels of mRNA transcripts (Hamosh et al. 1992; Will et al. 1995) and absence of full-length protein (Howard et al. 1996). Login to comment 131 ABCC7 p.Trp1282* With respect to the W1282X mutation, conflicting data are reported in the literature. Login to comment 163 ABCC7 p.Trp1282* ABCC7 p.Gly542* J Clin Invest 95:1601-1611 Gregory RJ, Cheng SH, Rich DP, Marshall J, Paul S, Hehir K, Ostedgaard L, Klinger KW, Welsh MJ, Smith AE (1990) Expression and characterization of the cystic fibrosis transmembrane conductance regulator. Nature 347:382-386 Hamosh A, Rodenstein BJ, Cutting GR (1992) CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells. Login to comment 172 ABCC7 p.Trp1282* ABCC7 p.Trp1282* Am J Respir Cell Mol Biol 7:485-491 Riordan JR, Rommens JM, Kerem B-S, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou J-L, Drumm ML, Iannuzzi MC, Collins FC, Tsui L-C (1989) Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245:1066-1073 Shoshani T, Kerem E, Szeinberg A, Augarten A, Yahav Y, Cohen D, Rivlin J, Tal A, Kerem B (1994) Similar levels of mRNA from the W1282X and the delta F508 cystic fibrosis alleles, in nasal epithelial cells. Login to comment