STRUCTURE, ALTERNATIVE SPLICING AND CHROMOSOMAL LOCALIZATION OF THE CYSTATIN-RELATED EPIDIDYMAL SPERMATOGENIC GENE
STRUCTURE, ALTERNATIVE SPLICING AND CHROMOSOMAL LOCALIZATION OF THE CYSTATIN-RELATED EPIDIDYMAL SPERMATOGENIC GENE
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胱抑素相关附睾生精基因的结构、选择性剪接和染色体定位
DOI：
10.1042/bj3400085
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发表时间：
1999
影响因子：
4.1
通讯作者：
H. G. Sutton
中科院分区：
文献类型：
--
作者：
G. Cornwall;N. Hsia;H. G. Sutton
半胱氨酸蛋白酶抑制剂的半胱氨酸蛋白酶抑制剂超家族由三个主要家族组成，包括stefins、半胱氨酸蛋白酶抑制剂和激肽原。然而，最近鉴定的几个基因，具有与半胱氨酸蛋白酶抑制剂的序列相似性，但具有不同的基因或蛋白质结构，表明可能存在几个新的半胱氨酸蛋白酶抑制剂家族或亚家族。我们以前确定了半胱氨酸蛋白酶抑制剂相关的附睾生精（克雷斯）基因，这是相关的家庭2半胱氨酸蛋白酶抑制剂，但表现出高度的组织特异性表达在生殖道。在这里介绍的研究中，基因结构分析以及染色体定位研究表明，克雷斯基因可能代表一个新的亚组内的家庭2半胱氨酸蛋白酶抑制剂。尽管克雷斯基因具有编码5'非翻译序列的额外外显子，但其编码外显子的大小与半胱氨酸蛋白酶抑制剂家族2基因的三个编码外显子相似，并且克雷斯外显子/内含子剪接点出现在与半胱氨酸蛋白酶抑制剂C基因相同的位置。此外，染色体定位研究表明，克雷斯基因与小鼠2号染色体上的半胱氨酸蛋白酶抑制剂C基因共分离。类似于半胱氨酸蛋白酶抑制剂家族2蛋白，克雷斯蛋白具有半胱氨酸蛋白酶抑制剂折叠所必需的A型和B型二硫环。有趣的是，克雷斯蛋白还具有一半的C型二硫环。虽然可能与半胱氨酸蛋白酶抑制剂基因相关，但克雷斯基因的不同之处在于其启动子含有受调控基因的典型共有基序。最后，逆转录酶介导的PCR研究和新的克雷斯cDNA克隆的鉴定表明，克雷斯mRNA是可变剪接的，导致两个克雷斯mRNA可能参与克雷斯功能的调节。
The cystatin superfamily of cysteine protease inhibitors consists of three major families, including the stefins, cystatins and kininogens. However, the recent identification of several genes that possess sequence similarity with the cystatins but have different gene or protein structures indicates that several new cystatin families or subgroups of families might exist. We previously identified the cystatin-related epididymal spermatogenic (Cres) gene, which is related to the family 2 cystatins but exhibits highly tissue-specific expression in the reproductive tract. In the studies presented here, an analysis of gene structure as well as chromosomal mapping studies suggest that the Cres gene might represent a new subgroup within the family 2 cystatins. Although the Cres gene possesses an additional exon encoding 5' untranslated sequences, its coding exons are similar in size to the three coding exons of the cystatin family 2 genes, and the Cres exon/intron splice junctions occur in identical locations as in the cystatin C gene. Furthermore, chromosomal mapping studies show that the Cres gene co-segregates with the cystatin C gene on mouse chromosome 2. Similar to the cystatin family 2 proteins, the Cres protein possesses the type A and B disulphide loops that are necessary for cystatin folding. Interestingly, Cres protein also possesses half of a type C disulphide loop. Although probably related to the cystatin genes, the Cres gene is distinct in that its promoter contains consensus motifs typical of regulated genes. Finally, reverse transcriptase-mediated PCR studies and the identification of new Cres cDNA clones indicate that the Cres mRNA is alternatively spliced, resulting in two Cres mRNAs that might be involved in the regulation of Cres function.