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人类雌激素磺基转移酶基因(STE):克隆、结构及染色体定位

Human estrogen sulfotransferase gene (STE): cloning, structure, and chromosomal localization.

作者信息

Her C, Aksoy I A, Kimura S, Brandriff B F, Wasmuth J J, Weinshilboum R M

机构信息

Department of Pharmacology, Mayo Medical School, Rochester, Minnesota 55905, USA.

出版信息

Genomics. 1995 Sep 1;29(1):16-23. doi: 10.1006/geno.1995.1210.

DOI:10.1006/geno.1995.1210
PMID:8530066
Abstract

Sulfation is an important pathway in the metabolism of estrogens. We recently cloned a human liver estrogen sulfotransferase (EST) cDNA. We have now determined the structure and chromosomal localization of the EST gene, STE, as a step toward molecular genetic studies of the regulation of EST in humans. STE spans approximately 20 kb and consists of 8 exons, ranging in length from 95 to 181 bp. The locations of most exon-intron splice junctions within STE are identical to those found in a human phenol ST (PST) gene, STM, and in a rat PST gene. In addition, the locations of five STE introns are also conserved in the human dehydroepiandrosterone (DHEA) ST gene, STD. The 5'-flanking region of STE contains one CCAAT and two TATA sequences. The location of one of the TATA box elements is in excellent agreement with the site of transcription initiation as determined by 5'-rapid amplification of cDNA ends. STE was mapped to human chromosome 4q13.1 by fluorescence in situ hybridization. Cloning and structural characterization of STE will now make it possible to study potential molecular genetic mechanisms involved in the regulation of EST in human tissues.

摘要

硫酸化是雌激素代谢的一条重要途径。我们最近克隆了一个人肝脏雌激素磺基转移酶(EST)cDNA。我们现已确定了EST基因STE的结构和染色体定位,作为对人类EST调控进行分子遗传学研究的第一步。STE跨度约20 kb,由8个外显子组成,长度从95到181 bp不等。STE内大多数外显子-内含子剪接位点的位置与在人酚类ST(PST)基因STM和大鼠PST基因中发现的位置相同。此外,5个STE内含子的位置在人脱氢表雄酮(DHEA)ST基因STD中也保守。STE的5'侧翼区包含一个CCAAT和两个TATA序列。其中一个TATA框元件的位置与通过5'-cDNA末端快速扩增确定的转录起始位点高度一致。通过荧光原位杂交将STE定位到人类染色体4q13.1。STE的克隆和结构表征现在将使得研究人类组织中EST调控所涉及的潜在分子遗传机制成为可能。

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