Jia Shu-Ting, Yang Shi-Hua, Luo Ying
Laboratory of Molecular Genetics of Aging and Tumor, Faculty of Life Science and Technology, Kunming University of Science and Technology, Kunming 650224, China.
Yi Chuan. 2009 Aug;31(8):785-90. doi: 10.3724/sp.j.1005.2009.00785.
Werner syndrome (WS) is a rare autosomal recessive genetic disease in human. It is considered as a good model disease in studying human premature syndrome. Werner protein (WRN) is a nuclear protein mutated in WS. Recent biochemical and genetic studies indicated that WRN plays important roles in DNA replication, DNA repair, and telomere maintenance. Here, we reviewed the molecular genetics of WS and the importance of telomere and WRN in the development of WS. Knocking out both telomerase and Wrn genes in mouse faithfully manifests human WS. The mouse model provides a unique genetic platform to explore the crosstalk of premature aging and tumor.
沃纳综合征（WS）是一种罕见的人类常染色体隐性遗传病。它被认为是研究人类早衰综合征的良好模型疾病。沃纳蛋白（WRN）是一种在WS中发生突变的核蛋白。最近的生化和遗传学研究表明，WRN在DNA复制、DNA修复和端粒维持中发挥着重要作用。在此，我们综述了WS的分子遗传学以及端粒和WRN在WS发生发展中的重要性。在小鼠中敲除端粒酶和Wrn基因忠实地表现出人类WS。该小鼠模型提供了一个独特的遗传平台来探索早衰与肿瘤之间的相互作用。
