Dietschy T, Shevelev I, Stagljar I
Terrence Donnelly Centre for Cellular and Biomolecular Research, Department of Biochemistry, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
Cell Mol Life Sci. 2007 Apr;64(7-8):796-802. doi: 10.1007/s00018-007-6468-5.
The RecQ family of DNA helicases is highly conserved throughout evolution and plays an important role in the maintenance of genomic stability in all organisms. Mutations in three of the five known family members in humans, BLM, WRN and RECQL4, give rise to disorders that are characterized by predisposition to cancer and premature aging, emphasizing the importance of studying the RecQ proteins and their cellular activities. Interestingly, three autosomal recessive disorders have been associated with mutations in the RECQL4 gene: Rothmund-Thomson, RAPADILINO, and Baller-Gerold syndromes, thus making RECQL4 unique within the RecQ family of DNA helicases. To date, however, the molecular function of RECQL4 and the possible cellular pathways in which it is involved remain poorly understood. Here, we present an overview of recent findings in connection with RECQL4 and try to highlight different directions the field could head, helping to clarify the role of RECQL4 in preventing tumorigenesis and maintenance of genome integrity in humans.
DNA解旋酶RecQ家族在整个进化过程中高度保守，在所有生物体基因组稳定性的维持中发挥着重要作用。人类已知的五个家族成员中的三个，即BLM、WRN和RECQL4发生突变，会引发以易患癌症和早衰为特征的疾病，这凸显了研究RecQ蛋白及其细胞活性的重要性。有趣的是，三种常染色体隐性疾病与RECQL4基因的突变有关：罗思蒙德 - 汤姆森综合征、RAPADILINO综合征和巴勒 - 杰罗尔德综合征，因此RECQL4在DNA解旋酶RecQ家族中独具特色。然而，迄今为止，RECQL4的分子功能以及它可能参与的细胞途径仍知之甚少。在此，我们概述了与RECQL4相关的最新研究发现，并试图突出该领域可能的不同发展方向，以帮助阐明RECQL4在预防人类肿瘤发生和维持基因组完整性中的作用。
