Mohaghegh Payam, Hickson Ian D
Cancer Research UK Laboratories, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, OX3 9DS, Oxford, UK.
Int J Biochem Cell Biol. 2002 Nov;34(11):1496-501. doi: 10.1016/s1357-2725(02)00039-0.
The RecQ family of DNA helicases have potential roles in DNA repair, replication and/or recombination pathways. In humans, a defect in the RecQ family helicases encoded by the BLM, WRN and RECQ4 genes gives rise to Bloom's (BS), Werner's (WS) and Rothmund-Thomson (RTS) syndromes, respectively. These disorders are associated with cancer predisposition and/or premature aging. In Bloom's syndrome, affected individuals are predisposed to many types of cancer at an early age. Werner's syndrome is a premature aging disorder with a complex phenotype, which includes many age-related disorders that develop from puberty, including greying and thinning of the hair, bilateral cataract formation, type II diabetes mellitus, osteoporosis and atherosclerosis. The phenotype of Rothmund-Thomson syndrome patients also consists of some features associated with premature aging, as well as predispositon to certain cancers. Here, we discuss the molecular basis of these RecQ helicase-deficient disorders.
DNA解旋酶RecQ家族在DNA修复、复制和/或重组途径中具有潜在作用。在人类中，由BLM、WRN和RECQ4基因编码的RecQ家族解旋酶缺陷分别导致布卢姆综合征（BS）、沃纳综合征（WS）和罗思蒙德-汤姆森综合征（RTS）。这些疾病与癌症易感性和/或早衰有关。在布卢姆综合征中，受影响的个体在早年易患多种癌症。沃纳综合征是一种具有复杂表型的早衰疾病，包括许多从青春期开始出现的与年龄相关的疾病，如头发变白和变稀、双侧白内障形成、II型糖尿病、骨质疏松症和动脉粥样硬化。罗思蒙德-汤姆森综合征患者的表型也包括一些与早衰相关的特征，以及对某些癌症的易感性。在此，我们讨论这些RecQ解旋酶缺陷疾病的分子基础。
