Chu Wai Kit, Hickson Ian D
Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.
Nat Rev Cancer. 2009 Sep;9(9):644-54. doi: 10.1038/nrc2682. Epub 2009 Aug 6.
Around 1% of the open reading frames in the human genome encode predicted DNA and RNA helicases. One highly conserved group of DNA helicases is the RecQ family. Genetic defects in three of the five human RecQ helicases, BLM, WRN and RECQ4, give rise to defined syndromes associated with cancer predisposition, some features of premature ageing and chromosomal instability. In recent years, there has been a tremendous advance in our understanding of the cellular functions of individual RecQ helicases. In this Review, we discuss how these proteins might suppress genomic rearrangements, and therefore function as 'caretaker' tumour suppressors.
人类基因组中约1%的开放阅读框编码预测的DNA和RNA解旋酶。DNA解旋酶中一个高度保守的家族是RecQ家族。人类五种RecQ解旋酶中的三种，即BLM、WRN和RECQ4，其基因缺陷会导致与癌症易感性、一些早衰特征和染色体不稳定性相关的特定综合征。近年来，我们对单个RecQ解旋酶的细胞功能的理解有了巨大进展。在这篇综述中，我们讨论了这些蛋白质如何抑制基因组重排，从而作为“守护者”肿瘤抑制因子发挥作用。
