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人类Rab geranylgeranyl转移酶α和β亚基编码基因的cDNA克隆及染色体定位:α亚基基因的3'端与转谷氨酰胺酶1基因启动子重叠。

cDNA cloning and chromosomal localization of the genes encoding the alpha- and beta-subunits of human Rab geranylgeranyl transferase: the 3' end of the alpha-subunit gene overlaps with the transglutaminase 1 gene promoter.

作者信息

van Bokhoven H, Rawson R B, Merkx G F, Cremers F P, Seabra M C

机构信息

Department of Human Genetics, University Hospital Nijmegen, The Netherlands.

出版信息

Genomics. 1996 Dec 1;38(2):133-40. doi: 10.1006/geno.1996.0608.

DOI:10.1006/geno.1996.0608
PMID:8954794
Abstract

We have isolated and sequenced the complete coding sequences of the human genes for the alpha- and beta-subunits of Rab geranylgeranyl transferase (Rab GGTase). The alpha- and beta-subunit genes code for proteins of 567 and 331 amino acids, respectively, showing 91 and 95% amino acid identity to their rat counterparts. We employed fluorescence in situ hybridization to map the beta-subunit gene to human chromosome 1p31. The alpha-subunit gene could be assigned to 14q11.2, less than 2 kb upstream of the transcription initiation site of the gene for transglutaminase 1 (TGM1). The two genes are arranged in tandem in a head-to-tail orientation. The short intergenic sequence between the two loci contains several promoter elements that are involved in the induction of TGM1 gene expression in squamous cells. These results suggest that cis-acting factors for cell-type-specific transcription of one gene are located within the transcribed region of a functionally unrelated gene.

摘要

我们已经分离并测序了人类Rab geranylgeranyl转移酶(Rab GGTase)α和β亚基基因的完整编码序列。α和β亚基基因分别编码567和331个氨基酸的蛋白质,与大鼠对应蛋白的氨基酸同一性分别为91%和95%。我们采用荧光原位杂交技术将β亚基基因定位到人类染色体1p31上。α亚基基因可定位于14q11.2,位于转谷氨酰胺酶1(TGM1)基因转录起始位点上游不到2 kb处。这两个基因以头对尾的方向串联排列。两个基因座之间的短基因间序列包含几个启动子元件,这些元件参与鳞状细胞中TGM1基因表达的诱导。这些结果表明,一个基因的细胞类型特异性转录的顺式作用因子位于功能无关基因的转录区域内。

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cDNA cloning and chromosomal localization of the genes encoding the alpha- and beta-subunits of human Rab geranylgeranyl transferase: the 3' end of the alpha-subunit gene overlaps with the transglutaminase 1 gene promoter.人类Rab geranylgeranyl转移酶α和β亚基编码基因的cDNA克隆及染色体定位:α亚基基因的3'端与转谷氨酰胺酶1基因启动子重叠。
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A distal region of the human TGM1 promoter is required for expression in transgenic mice and cultured keratinocytes.人类TGM1启动子的远端区域对于在转基因小鼠和培养的角质形成细胞中的表达是必需的。
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