Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.
Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.
复制标题
DOI：
10.1126/science.2475911
复制
发表时间：
1989-09
期刊：
影响因子：
56.9
通讯作者：
J. Riordan;J. Rommens;N. Alon;R. Rozmahel;Z. Grzelczak;J. Zieleński;N. Plavsic;Jia-Ling Chou
中科院分区：
文献类型：
--
作者：
J. Riordan;J. Rommens;N. Alon;R. Rozmahel;Z. Grzelczak;J. Zieleński;N. Plavsic;Jia-Ling Chou
从上皮细胞文库中分离出重叠的互补DNA克隆，这些克隆带有包含假定的囊性纤维化（CF）基因座一部分的基因组DNA片段，该基因座位于7号染色体上。在囊性纤维化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）一个具有与膜结合特性相符的结构域，以及（ii）一个据信与ATP（三磷酸腺苷）结合有关的结构域。在囊性纤维化患者中检测到三个碱基对的缺失，这导致在第一个预测的核苷酸结合结构域中心缺失一个苯丙氨酸残基。
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.