The sulfatase gene family
The sulfatase gene family
复制标题
DOI：
10.1016/s0959-437x(97)80153-0
复制
发表时间：
1997-06-01
影响因子：
4
通讯作者：
Ballabio, A
中科院分区：
文献类型：
--
作者：
Parenti, G;Meroni, G;Ballabio, A
在过去的几年中，分子分析提供了重要的见解的硫酸酯酶家族的酶的生物化学和遗传学，确定由硫酸酯酶缺陷引起的遗传性疾病的分子基础。硫酸酯酶基因家族的新成员已被确定在人类和其他物种使用基因组方法。这些包括编码芳基硫酸酯酶E的基因，该基因与X连锁隐性点状软骨发育不良（一种软骨和骨发育障碍）有关。另一个重要的突破是发现了多发性硫酸酯酶缺乏症的生化基础，这是一种常染色体隐性疾病，其特征是所有硫酸酯酶活性严重降低。这些发现，再加上硫酸酯酶晶体结构的解析，提高了我们对这个迷人的酶家族的功能和进化的理解。
During the past few years, molecular analyses have provided important insights into the biochemistry and genetics of the sulfatase family of enzymes, identifying the molecular bases of inherited diseases caused by sulfatase deficiencies. New members of the sulfatase gene family have been identified in man and other species using a genomic approach. These include the gene encoding arylsulfatase E, which is involved in X-linked recessive chondrodysplasia punctata, a disorder of cartilage and bone development. Another important breakthrough has been the discovery of the biochemical basis of multiple sulfatase deficiency, an autosomal recessive disorder characterized by a severe reduction of all sulfatase activities. These discoveries, together with the resolution of the crystallographic structure of sulfatases, have improved our understanding of the function and evolution of this fascinating family of enzymes.