Bartuski A J, Kamachi Y, Schick C, Overhauser J, Silverman G A
Joint Program in Neonatology, Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
Genomics. 1997 Aug 1;43(3):321-8. doi: 10.1006/geno.1997.4827.
High-molecular-weight serine proteinase inhibitors (serpins) regulate a diverse set of intracellular and extracellular processes such as complement activation, fibrinolysis, coagulation, cellular differentiation, tumor suppression, apoptosis, and cell migration. The ov-serpins are a subset of the serpin superfamily and are characterized by their high degree of homology to chicken ovalbumin, the lack of N- and C-terminal extensions, the absence of a signal peptide, and a Ser rather than an Asn residue at the penultimate position. Recently, we mapped four members of the family [SCCA1, SCCA2, PAI2, and PI5 (maspin)] to a 300-kb region within 18q21.3. Using a panel of 18q21.3 YAC clones, PCR, and DNA blotting, we mapped two additional ov-serpins, cytoplasmic antiproteinase 2 [CAP2 (PI8)] and bone marrow-associated serpin [bomapin (PI10)], to the same region. Three of the serpins, PI8, PI10, and PAI2 mapped to the same YACs, yA27D8 and yA24E4. We estimated that the size of the 18q21.3 serpin cluster spanned approximately 500 kb and contained at least six serpin genes. The order was cen-PI5, SCCA2, SCCA1, PAI2, PI10, PI8-tel. The clustering of serpins at 18q21 provides new opportunities to study coordinate gene regulation and the evolution of gene families.
高分子量丝氨酸蛋白酶抑制剂（丝氨酸蛋白酶抑制剂）调节多种细胞内和细胞外过程，如补体激活、纤维蛋白溶解、凝血、细胞分化、肿瘤抑制、细胞凋亡和细胞迁移。卵清蛋白丝氨酸蛋白酶抑制剂是丝氨酸蛋白酶抑制剂超家族的一个亚群，其特征在于与鸡卵清蛋白具有高度同源性、缺乏N端和C端延伸、没有信号肽以及倒数第二位是丝氨酸而非天冬酰胺残基。最近，我们将该家族的四个成员[SCCA1、SCCA2、PAI2和PI5（乳腺丝抑蛋白）]定位到18q21.3内的一个300kb区域。使用一组18q21.3 YAC克隆、PCR和DNA印迹技术，我们将另外两个卵清蛋白丝氨酸蛋白酶抑制剂，即细胞质抗蛋白酶2[CAP2（PI8）]和骨髓相关丝氨酸蛋白酶抑制剂[骨抑素（PI10）]，定位到同一区域。其中三个丝氨酸蛋白酶抑制剂，PI8、PI10和PAI2，定位到相同的YAC，即yA27D8和yA24E4。我们估计18q21.3丝氨酸蛋白酶抑制剂簇的大小约为500kb，包含至少六个丝氨酸蛋白酶抑制剂基因。顺序为着丝粒-PI5、SCCA2、SCCA1、PAI2、PI10、PI8-端粒。18q21处丝氨酸蛋白酶抑制剂的聚集为研究基因的协同调控和基因家族的进化提供了新的机会。
