Haendler B, Hofer E
Preclinical Research, Sandoz Ltd, Basle, Switzerland.
Eur J Biochem. 1990 Jul 5;190(3):477-82. doi: 10.1111/j.1432-1033.1990.tb15598.x.
The human cyclophilin gene was isolated from a genomic library derived from leucocyte DNA and sequenced. The gene contains five exons and four introns. The amino acid sequence deduced from the exons matches perfectly the one previously determined from the T-cell cyclophilin cDNA. A TATA box is visible in the promoter region and putative Sp1 binding sites are also found there as well as in the first intron. Six members of the middle repetitive Alu gene family are present in one or other orientation in the non-coding regions of the cyclophilin gene. Hybridisation of genomic DNA to probes derived from the promoter region or the first intron indicates that the cyclophilin gene is present as a single copy in the human haploid genome. Seven other cyclophilin-related DNA clones isolated from the same library were also characterized. They show a high degree of similarity to the cyclophilin cDNA and are colinear to it. However, multiple genetic lesions, often including deletion and/or insertion events which modify the reading frame, are found in these clones which are therefore likely to represent processed pseudogenes.
人亲环蛋白基因是从来源于白细胞DNA的基因组文库中分离出来并进行测序的。该基因包含五个外显子和四个内含子。从外显子推导的氨基酸序列与先前从T细胞亲环蛋白cDNA确定的序列完全匹配。在启动子区域可见一个TATA盒，并且在那里以及第一个内含子中也发现了推定的Sp1结合位点。中间重复的Alu基因家族的六个成员以一种或另一种方向存在于亲环蛋白基因的非编码区域中。基因组DNA与源自启动子区域或第一个内含子的探针杂交表明，亲环蛋白基因在人类单倍体基因组中以单拷贝形式存在。从同一文库中分离出的其他七个亲环蛋白相关DNA克隆也进行了表征。它们与亲环蛋白cDNA显示出高度相似性并且与其共线。然而，在这些克隆中发现了多个遗传损伤，通常包括改变阅读框的缺失和/或插入事件，因此这些克隆很可能代表加工过的假基因。
