Riordan J R, Rommens J M, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou J L
Department of Biochemistry, Hospital for Sick Children, Toronto, Ontario, Canada.
Science. 1989 Sep 8;245(4922):1066-73. doi: 10.1126/science.2475911.
Overlapping complementary DNA clones were isolated from epithelial cell libraries with a genomic DNA segment containing a portion of the putative cystic fibrosis (CF) locus, which is on chromosome 7. Transcripts, approximately 6500 nucleotides in size, were detectable in the tissues affected in patients with CF. The predicted protein consists of two similar motifs, each with (i) a domain having properties consistent with membrane association and (ii) a domain believed to be involved in ATP (adenosine triphosphate) binding. A deletion of three base pairs that results in the omission of a phenylalanine residue at the center of the first predicted nucleotide-binding domain was detected in CF patients.
从上皮细胞文库中分离出重叠的互补DNA克隆，所用的基因组DNA片段包含位于7号染色体上的假定囊性纤维化（CF）位点的一部分。在CF患者受影响的组织中可检测到大小约为6500个核苷酸的转录本。预测的蛋白质由两个相似的基序组成，每个基序都有（i）一个具有与膜结合一致特性的结构域，以及（ii）一个被认为参与ATP（三磷酸腺苷）结合的结构域。在CF患者中检测到三个碱基对的缺失，该缺失导致在第一个预测的核苷酸结合结构域中心遗漏一个苯丙氨酸残基。
