BACKGROUND & AIMS:
The human PIN1 gene encodes an essential nuclear peptidyl-prolyl cis/trans isomerase involved in the regulation of mitosis. PIN1 is a member of a new class of peptidyl-prolyl cis/trans isomerases that includes the Escherichia coli parvulin, yeast ESS1, and Drosophila melanogaster dodo gene products. Analysis of human ESTs showed that there are two different but closely related human transcripts, one of which corresponds to PIN1. Gene localization, using both FISH and tritium-labeled probes, showed that each of the human transcripts hybridized to 1p31 and 19p13. Primers were designed to discriminate between the two transcripts, and PCR on DNA from hamster/human somatic cell hybrids retaining chromosomes 1 or 19 was used to map the human PIN1 gene to chromosome 19, and PIN1L, a closely related gene, to chromosome 1. The results establish that PIN1 is at 19p13 and PIN1L at 1p31. PCR was used to clone the coding region for PIN1L. The PIN1L cDNA is 89% identical at the nucleotide level to the PIN1 transcript, but contains a shift in the reading frame. It encodes a 100-amino-acid variant protein consisting of 63 amino acids homologous (90% identical) to PIN1 and containing the entire WW domain, fused to a 37-amino-acid tail. The protein encoded by PIN1L may have some functional role or alternatively PIN1L may be a transcribed pseudogene.
背景与目标:
人类PIN1基因编码一个重要的核肽基-脯氨酰顺式/反式异构酶,参与有丝分裂的调节。PIN1是一类新的肽基脯氨酰顺式/反式异构酶的成员,其中包括大肠杆菌异丙醇,酵母ESS1和果蝇dododo基因产物。对人类est的分析表明,存在两种不同但密切相关的人类转录本,其中一种对应于pin1。使用FISH和tri标记的探针进行基因定位,表明每个人类转录本都与1p31和19p13杂交。设计引物以区分两个转录本,并使用保留1号或19号染色体的仓鼠/人类体细胞杂种的DNA进行PCR,将人PIN1基因定位到19号染色体,将PIN1L (一个密切相关的基因) 定位到1号染色体。结果表明PIN1在19p13处,PIN1L在1p31处。PCR用于克隆PIN1L的编码区。Pin1lcdna在核苷酸水平上与PIN1转录物89% 相同,但包含阅读框的偏移。它编码由与PIN1同源 (90% 相同) 的63个氨基酸组成的100氨基酸变体蛋白,并包含与37个氨基酸尾部融合的整个WW结构域。PIN1L编码的蛋白质可能具有某些功能作用,或者PIN1L可能是转录的假基因。