Smit L S, Wilkinson D J, Mansoura M K, Collins F S, Dawson D C
Department of Human Genetics, University of Michigan, Ann Arbor 48109.
Proc Natl Acad Sci U S A. 1993 Nov 1;90(21):9963-7. doi: 10.1073/pnas.90.21.9963.
The cystic fibrosis transmembrane conductance regulator (CFTR), a member of the traffic ATPase superfamily, possesses two putative nucleotide-binding folds (NBFs). The NBFs are sufficiently similar that sequence alignment of highly conserved regions can be used to identify analogous residues in the two domains. To determine whether this structural homology is paralleled in function, we compared the activation of chloride conductance by forskolin and 3-isobutyl-1-methylxanthine in Xenopus oocytes expressing CFTRs bearing mutations in NBF1 or NBF2. Mutation of a conserved glycine in the putative linker domain in either NBF produced virtually identical changes in the sensitivity of chloride conductance to activating conditions, and mutation of this site in both NBFs produced additive effects, suggesting that in the two NBFs this region plays a similar and critical role in the activation process. In contrast, amino acid substitutions in the Walker A and B motifs, thought to form an integral part of the nucleotide-binding pockets, produced strikingly different effects in NBF1 and NBF2. Substitutions for the conserved lysine (Walker A) or aspartate (Walker B) in NBF1 resulted in a marked decrease in sensitivity to activation, whereas the same changes in NBF2 produced an increase in sensitivity. These results are consistent with a model for the activation of CFTR in which both NBF1 and NBF2 are required for normal function but in which either the nature or the exact consequences of nucleotide binding differ for the two domains.
囊性纤维化跨膜传导调节因子(CFTR)是转运ATP酶超家族的成员,具有两个假定的核苷酸结合结构域(NBFs)。这两个NBFs足够相似,以至于高度保守区域的序列比对可用于识别两个结构域中的类似残基。为了确定这种结构同源性在功能上是否也存在,我们比较了在表达NBF1或NBF2中带有突变的CFTR的非洲爪蟾卵母细胞中,福斯可林和3-异丁基-1-甲基黄嘌呤对氯离子传导的激活作用。任一NBF中假定连接结构域中保守甘氨酸的突变,在氯离子传导对激活条件的敏感性方面产生了几乎相同的变化,并且两个NBF中该位点的突变产生了累加效应,这表明在两个NBF中该区域在激活过程中发挥了相似且关键的作用。相比之下,沃克A和B模体中的氨基酸替换,被认为是核苷酸结合口袋的组成部分,在NBF1和NBF2中产生了显著不同的影响。NBF1中保守赖氨酸(沃克A)或天冬氨酸(沃克B)的替换导致对激活的敏感性显著降低,而NBF2中的相同变化则导致敏感性增加。这些结果与CFTR激活模型一致,在该模型中,NBF1和NBF2对于正常功能都是必需的,但两个结构域中核苷酸结合的性质或确切结果有所不同。