CHARACTERIZATION OF THE HUMAN CYCLOPHILIN GENE AND OF RELATED PROCESSED PSEUDOGENES
CHARACTERIZATION OF THE HUMAN CYCLOPHILIN GENE AND OF RELATED PROCESSED PSEUDOGENES
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DOI：
10.1111/j.1432-1033.1990.tb15598.x
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发表时间：
1990-07-05
期刊：
影响因子：
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通讯作者：
HOFER, E
中科院分区：
文献类型：
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作者：
HAENDLER, B;HOFER, E
从源自白细胞 DNA 的基因组文库中分离出人亲环蛋白基因并进行测序。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之前从 T 细胞亲环蛋白 cDNA 确定的氨基酸序列完全匹配。 TATA 盒在启动子区域可见，并且在该处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 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中。基因组DNA与源自启动子区域或第一内含子的探针的杂交表明亲环蛋白基因在人类单倍体基因组中以单个拷贝存在。还对从同一文库中分离出的其他 7 个亲环蛋白相关 DNA 克隆进行了表征。它们与亲环蛋白 cDNA 表现出高度的相似性并且与其共线。然而，在这些克隆中发现了多个基因损伤，通常包括修改阅读框的删除和/或插入事件，因此这些克隆很可能代表加工后的假基因。
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 gene 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 psuedogenes.