ISOLATION OF A NEW GENE G52 (DXS1283E) FROM A CPG ISLAND BETWEEN STS AND KAL1 ON XP22.3
ISOLATION OF A NEW GENE G52 (DXS1283E) FROM A CPG ISLAND BETWEEN STS AND KAL1 ON XP22.3
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DOI：
10.1006/geno.1994.1397
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发表时间：
1994-07-15
期刊：
影响因子：
4.4
通讯作者：
YEN, PH
中科院分区：
文献类型：
--
作者：
LEE, WC;SALIDO, E;YEN, PH
GS2(DXS1283E)基因是从人类X染色体短臂末端的类固醇硫酸酯酶(STS)和Kallmann综合征(KAL1)基因座之间的一个CpG岛上分离到的。对GS2基因克隆的DNA测序显示，其碱性蛋白有一个253个氨基酸残基的开放阅读框，在3‘非翻译区有一个多态的CT二核苷酸重复序列。GS2基因在所有被检测的人类组织中都有表达，包括心脏、脑、胎盘、肺、肝脏、肌肉、肾脏、胰腺和脾。在不同组织中发现了几个GS2转录本，大小从1.1到5.8kb不等，表明GS2转录本是组织特异性的处理。对GS2基因组克隆的分析表明，该基因由7个外显子组成，大小超过26kb，第一内含子上有一个CpG岛。GS2基因转录成XPERT，方向与KAL1相同，但与STS相反。(C)1994年学术出版社。
A gene, GS2 (DXS1283E), was isolated from a CpG island located approximately midway between the steroid sulfatase (STS) and the Kallmann syndrome (KAL1) loci on the distal short arm of the human X chromosome. DNA sequencing of a GS2 cDNA clone revealed an open reading frame for a basic protein of 253 amino acid residues, A polymorphic CT dinucleotide repeat was found in the 3' untranslated region. The GS2 gene is expressed in all human tissues examined, including heart, brain, placenta, lung, liver, muscle, kidney, pancreas, and spleen. Several GS2 transcripts, ranging in size from 1.1 to 5.8 kb, were found among different tissues, suggesting tissue-specific processing of the GS2 transcript. Characterization of GS2 genomic clones revealed that the gene consists of 7 exons spanning over 26 kb, with a CpG island located in the first intron. The GS2 gene is transcribed toward Xpter, in the same direction as KAL1 but opposite to that of STS. (C) 1994 Academic Press, Inc.