Wine J J, Glavac D, Hurlock G, Robinson C, Lee M, Potocnik U, Ravnik-Glavac M, Dean M
Cystic Fibrosis Research Laboratory, Stanford University, California 94305-2130, USA.
Mamm Genome. 1998 Apr;9(4):301-5. doi: 10.1007/s003359900753.
Cystic fibrosis is a common human genetic disease caused by mutations in CFTR, a gene that codes for a chloride channel that is regulated by phosphorylation and cytosolic nucleotides. As part of a program to discover natural animal models for human genetic diseases, we have determined the genomic sequence of CFTR in the Rhesus monkey, Macaca mulatta. The coding region of rhesus CFTR is 98.3% identical to human CFTR at the nucleotide level and 98.2% identical and 99.7% similar at the amino acid level. Partial sequences of flanking introns (5582 base pair positions analyzed) revealed 91.1% identity with human introns. Relative to rhesus intronic sequence, the human sequences had 27 insertions and 22 deletions. Primer sequences for amplification of rhesus genomic CFTR sequences are provided. The accession number is AF013753 (all 27 exons and some flanking intronic sequence).
囊性纤维化是一种常见的人类遗传疾病,由CFTR基因突变引起。CFTR基因编码一种受磷酸化和胞质核苷酸调节的氯离子通道。作为发现人类遗传疾病天然动物模型计划的一部分,我们已经确定了恒河猴(猕猴)CFTR的基因组序列。恒河猴CFTR的编码区在核苷酸水平上与人类CFTR有98.3%的同一性,在氨基酸水平上有98.2%的同一性和99.7%的相似性。侧翼内含子的部分序列(分析了5582个碱基对位置)显示与人类内含子有91.1%的同一性。相对于恒河猴内含子序列,人类序列有27个插入和22个缺失。提供了扩增恒河猴基因组CFTR序列的引物序列。登录号为AF013753(所有27个外显子和一些侧翼内含子序列)。