Sturrock A, Franklin K F, Wu S, Hoidal J R
Department of Internal Medicine, Division of Respiratory, Critical Care and Occupational Medicine, Salt Lake City Veterans Administration Medical Center and the University of Utah, Salt Lake City, Utah, (USA).
Cytogenet Cell Genet. 1998;83(1-2):104-8. doi: 10.1159/000015144.
Proteinase-3 (PR-3) and neutrophil elastase (NE) are polymorphonuclear leukocyte serine proteinases that degrade extracellular matrix proteins including elastin and appear to be involved in the pathogenesis of several diseases characterized by tissue destruction most notably emphysema and Wegener's granulomatosis. In this report we characterize and compare the mouse PR-3 and NE genes and establish by FISH analysis a common location on mouse chromosome 10C2. Each gene consists of five exons and four introns conserving the typical granule-associated serine proteinase gene structure. The mouse PR-3 gene (Prtn3) is approximately 3.7 kb and is within 2.2 kb of the smaller (1.7 kb) NE gene (Ela2). The larger size of Prtn3 is accounted for by differences in intron sizes. A comparison between the mouse and human PR-3 cDNA reveals 73% homology, however, this drops to 60% when the amino acid sequences are compared. Homology between the mouse and human NE cDNA is 77% for both the cDNA and amino acid sequences. The catalytic triad and its placement are conserved among the four genes. The proximal promoter of mouse Prtn3 contains a TATA box, c-myb and an ets transcriptional site. As these are functional elements in the mouse Ela2 promoter they may also be important in the expression of Prtn3.
蛋白酶-3（PR-3）和中性粒细胞弹性蛋白酶（NE）是多形核白细胞丝氨酸蛋白酶，可降解包括弹性蛋白在内的细胞外基质蛋白，似乎参与了几种以组织破坏为特征的疾病的发病机制，最显著的是肺气肿和韦格纳肉芽肿。在本报告中，我们对小鼠PR-3和NE基因进行了表征和比较，并通过荧光原位杂交分析确定了它们在小鼠10C2染色体上的共同位置。每个基因由五个外显子和四个内含子组成，保留了典型的颗粒相关丝氨酸蛋白酶基因结构。小鼠PR-3基因（Prtn3）约为3.7 kb，位于较小的（1.7 kb）NE基因（Ela2）的2.2 kb范围内。Prtn3较大的尺寸是由内含子大小的差异造成的。小鼠和人类PR-3 cDNA之间的比较显示出73%的同源性，然而，当比较氨基酸序列时，这一比例降至60%。小鼠和人类NE cDNA之间的同源性在cDNA和氨基酸序列方面均为77%。四个基因的催化三联体及其位置是保守的。小鼠Prtn3的近端启动子包含一个TATA框、c-myb和一个ets转录位点。由于这些是小鼠Ela2启动子中的功能元件，它们可能对Prtn3的表达也很重要。
