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人类PIN1肽基脯氨酰顺/反异构酶基因定位于人类19号染色体p13区,而与之密切相关的PIN1L基因定位于1号染色体p31区。

The human PIN1 peptidyl-prolyl cis/trans isomerase gene maps to human chromosome 19p13 and the closely related PIN1L gene to 1p31.

作者信息

Campbell H D, Webb G C, Fountain S, Young I G

机构信息

Research School of Biological Sciences, The Australian National University, Canberra, ACT 2601, Australia.

出版信息

Genomics. 1997 Sep 1;44(2):157-62. doi: 10.1006/geno.1997.4854.

Abstract

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.

摘要

人类PIN1基因编码一种参与有丝分裂调控的必需核肽基脯氨酰顺/反异构酶。PIN1是一类新的肽基脯氨酰顺/反异构酶的成员,这类酶包括大肠杆菌小菌素、酵母ESS1和果蝇多多基因产物。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。使用荧光原位杂交(FISH)和氚标记探针进行基因定位,结果显示每种人类转录本都与1p31和19p13杂交。设计引物以区分这两种转录本,并对保留1号或19号染色体的仓鼠/人类体细胞杂种的DNA进行PCR,从而将人类PIN1基因定位到19号染色体,将密切相关的基因PIN1L定位到1号染色体。结果确定PIN1位于19p13,PIN1L位于1p31。使用PCR克隆PIN1L的编码区。PIN1L cDNA在核苷酸水平上与PIN1转录本有89%的同一性,但阅读框发生了移位。它编码一种由100个氨基酸组成的变体蛋白,其中63个氨基酸与PIN1同源(90%相同)并包含整个WW结构域,与一个37个氨基酸的尾巴融合。PIN1L编码的蛋白质可能具有某些功能作用,或者PIN1L可能是一个转录假基因。

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