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人类前列腺素(PRSS8)基因的结构与染色体定位

Structure and chromosomal localization of the human prostasin (PRSS8) gene.

作者信息

Yu J X, Chao L, Ward D C, Chao J

机构信息

Department of Biochemistry and Molecular Biology, Medical University of South Carolina, Charleston 29425, USA.

出版信息

Genomics. 1996 Mar 15;32(3):334-40. doi: 10.1006/geno.1996.0127.

DOI:10.1006/geno.1996.0127
PMID:8838796
Abstract

Prostasin, denoted as PRSS8, is a newly identified human serine proteinase that shares high sequence identity with acrosin, plasma kallikrein, and hepsin (Yu et al., 1994, 1995). In the present study, a full-length PRSS8 gene has been isolated and characterized. A 7-kb PRSS8 gene fragment has been sequenced, including a 1.4-kb 5'-flanking region, the 4.4-kb PRSS8 gene, and a 1.2-kb 3'-flanking region. The gene consists of six exons and five introns based on comparison with its cDNA sequence. The sizes of these exons are 417, 18, 163, 272, 167, and 899 bp, while those of the introns are 243, 1763, 271, 85, and 92 bp. A number of potential regulatory elements have been revealed in the 5'-flanking region, including an AP2 site, two erythroid-specific promoter elements, and a sterol regulatory element. In addition, there are a variant GC box and a variant AP1 site in the promoter region. The transcription initiation site of the PRSS8 gene has been defined at the G residue and its adjacent A residue in a sequence CTCATGACT, which is similar to an initiator element CTCANTCT. Between the transcription initiation site and these putative regulatory elements, there is an AC-rich repetitive sequence that spans over 300 bp. Human PRSS8 is a single-copy gene and has been localized on chromosome 16p11.2 by in situ hybridization.

摘要

前列腺素酶,记为PRSS8,是一种新发现的人类丝氨酸蛋白酶,与顶体蛋白酶、血浆激肽释放酶和肝素蛋白酶具有高度的序列同源性(Yu等人,1994年,1995年)。在本研究中,已分离并鉴定了全长PRSS8基因。对一个7kb的PRSS8基因片段进行了测序,包括一个1.4kb的5'侧翼区域、4.4kb的PRSS8基因和一个1.2kb的3'侧翼区域。根据与cDNA序列的比较,该基因由六个外显子和五个内含子组成。这些外显子的大小分别为417、18、163、272、167和899bp,而内含子的大小分别为243、1763、271、85和92bp。在5'侧翼区域发现了许多潜在的调控元件,包括一个AP2位点、两个红细胞特异性启动子元件和一个固醇调控元件。此外,启动子区域还有一个变异的GC盒和一个变异的AP1位点。PRSS8基因的转录起始位点已确定为序列CTCATGACT中的G残基及其相邻的A残基,该序列类似于起始元件CTCAN TCT。在转录起始位点和这些假定的调控元件之间,有一个跨越300bp以上的富含AC的重复序列。人类PRSS8是一个单拷贝基因,通过原位杂交定位在染色体16p11.2上。

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