ABCMdb

PMID: 12080183

deCarvalho AC, Ndi CP, Tsopmo A, Tane P, Ayafor J, Connolly JD, Teem JL
A novel natural product compound enhances cAMP-regulated chloride conductance of cells expressing CFTR[delta]F508.
Mol Med. 2002 Feb;8(2):75-87., [PubMed]

Sentences

No. Mutations Sentence Comment

9 ABCC7 p.Ser549Arg CF-causing mutations within NBD1 that result in defective processing of CFTR (⌬F508, ⌬I507, and S549R) disrupted NBD1 interaction in yeast. Login to comment 10 ABCC7 p.Gly551Asp In contrast, a CF-causing mutation that does not impair CFTR processing (G551D) had no effect on NBD1 dimerization. Login to comment 37 ABCC7 p.Gly551Asp ABCC7 p.Ser549Arg Plasmids identical to pBDNBD1 and pADNBD1, but containing CF-causing mutations (⌬F508, ⌬I507, S549R, and G551D) were similarly constructed (producing pBD⌬F, pAD⌬F, pBD⌬I507, pAD⌬I507, pBDS549R, pADS549R, pBDG551D, pADG551D). Login to comment 109 ABCC7 p.Gly551Asp ABCC7 p.Ser549Arg To assess the effect of CF-causing mutations on NBD1 homodimerization, ⌬I507, ⌬F508, S549R, and G551D were each introduced into NBD1 in both pADNBD1 and pBDNBD1. Login to comment 110 ABCC7 p.Ser549Arg As shown in Figure 1B, the mutations ⌬F508, ⌬I507, and S549R, resulted in a HIS- phenotype, indicating defective NBD1 dimerization. Login to comment 111 ABCC7 p.Gly551Asp The CF-causing mutation G551D, which impairs chloride channel function, but not processing of CFTR, did not result in defective NBD1 dimerization in yeast (Fig. 1). Login to comment 214 ABCC7 p.Ser549Arg CF mutations affecting CFTR processing (⌬F508, ⌬I507, and S549R) resulted in defective CFTR NBD1 dimer formation in yeast. Login to comment 215 ABCC7 p.Gly551Asp In contrast, the G551D mutation, which does not impair CFTR processing, had no effect on NBD1 association. Login to comment