Terry Fox Laboratory, British Columbia Cancer Agency, Vancouver, BC V5Z 1L3, Canada.
Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Genes (Basel). 2019 Oct 31;10(11):870. doi: 10.3390/genes10110870.
Guanine quadruplex (G4) structures are among the most stable secondary DNA structures that can form in vitro, and evidence for their existence in vivo has been steadily accumulating. Originally described mainly for their deleterious effects on genome stability, more recent research has focused on (potential) functions of G4 structures in telomere maintenance, gene expression, and other cellular processes. The combined research on G4 structures has revealed that properly regulating G4 DNA structures in cells is important to prevent genome instability and disruption of normal cell function. In this short review we provide some background and historical context of our work resulting in the identification of FANCJ, RTEL1 and BLM as helicases that act on G4 structures in vivo. Taken together these studies highlight important roles of different G4 DNA structures and specific G4 helicases at selected genomic locations and telomeres in regulating gene expression and maintaining genome stability.
鸟嘌呤四链体(G4)结构是体外最稳定的二级 DNA 结构之一,其在体内存在的证据也在不断积累。最初主要描述了它们对基因组稳定性的有害影响,最近的研究则集中在端粒维持、基因表达和其他细胞过程中 G4 结构的(潜在)功能。对 G4 结构的综合研究表明,在细胞中正确调节 G4 DNA 结构对于防止基因组不稳定性和正常细胞功能的破坏至关重要。在这篇简短的综述中,我们提供了一些背景和历史背景,介绍了我们的工作,这些工作导致鉴定出 FANCJ、RTEL1 和 BLM 作为体内作用于 G4 结构的解旋酶。这些研究共同强调了不同的 G4 DNA 结构和特定的 G4 解旋酶在特定基因组位置和端粒处调节基因表达和维持基因组稳定性的重要作用。