Fedde K, Horwitz A L
Am J Hum Genet. 1984 May;36(3):623-33.
Multiple sulfatase deficiency (MSD) is an inherited disorder characterized by deficient activity of seven different sulfatases. Genetic complementation for steroid sulfatase (STS), arylsulfatase A, and N-acetylgalactosamine 6-SO4 sulfatase was demonstrated in somatic cell hybrids between MSD fibroblasts and mouse cells ( LA9 ) or Chinese hamster cells ( CHW ). In an electrophoretic system that separates human and rodent STS isozymes, enzyme from hybrids migrated as human enzyme. We concluded that the rodent cell complemented the MSD deficiency and allowed normal expression of the STS structural gene. Some MSD- LA9 hybrids showed significant levels of human arylsulfatase A activity, as shown by the immunoprecipitation of active enzyme by human-specific antiserum. Complementation was also suggested for N-acetylgalactosamine 6- sulfatate sulfatase (GalNAc-6S sulfatase) in several MSD- LA9 hybrids by the demonstration of a significant increase in activity (10-fold) over that of the GalNAc-6S sulfatase-deficient parental mouse and MSD cells. Thus, it was possible to demonstrate complementation for more than one sulfatase in a single MSD-rodent hybrid. Normal levels of sulfatase activity in hybrids indicate that the sulfatase structural genes are intact in MSD cells.
多种硫酸酯酶缺乏症（MSD）是一种遗传性疾病，其特征是七种不同硫酸酯酶的活性缺乏。在MSD成纤维细胞与小鼠细胞（LA9）或中国仓鼠细胞（CHW）之间的体细胞杂种中，证实了类固醇硫酸酯酶（STS）、芳基硫酸酯酶A和N-乙酰半乳糖胺6-硫酸酯酶的基因互补作用。在一个能分离人和啮齿动物STS同工酶的电泳系统中，杂种中的酶以人源酶的形式迁移。我们得出结论，啮齿动物细胞弥补了MSD缺陷，并使STS结构基因得以正常表达。一些MSD-LA9杂种显示出显著水平的人源芳基硫酸酯酶A活性，人特异性抗血清对活性酶的免疫沉淀反应就表明了这一点。在几个MSD-LA9杂种中，通过证明N-乙酰半乳糖胺6-硫酸酯硫酸酯酶（GalNAc-6S硫酸酯酶）的活性比缺乏GalNAc-6S硫酸酯酶的亲代小鼠和MSD细胞显著增加（10倍），也提示了其互补作用。因此，有可能在单个MSD-啮齿动物杂种中证明不止一种硫酸酯酶的互补作用。杂种中硫酸酯酶活性的正常水平表明MSD细胞中的硫酸酯酶结构基因是完整的。
