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Genes (Basel). 2019 Oct 31;10(11). pii: E870. doi: 10.3390/genes10110870.

Helicases FANCJ, RTEL1 and BLM Act on Guanine Quadruplex DNA in Vivo.

Author information

1
Terry Fox Laboratory, British Columbia Cancer Agency, Vancouver, BC V5Z 1L3, Canada. plansdor@bccrc.ca.
2
Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada. plansdor@bccrc.ca.
3
European Research Institute for the Biology of Ageing, University of Groningen, 9713 AV Groningen, The Netherlands. plansdor@bccrc.ca.
4
European Research Institute for the Biology of Ageing, University of Groningen, 9713 AV Groningen, The Netherlands. niek.vanwietmarschen@nih.gov.
5
Laboratory of Genome Integrity, National Cancer Institute, NIH, Bethesda, MD 20892, USA. niek.vanwietmarschen@nih.gov.

Abstract

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.

KEYWORDS:

BLM; DOG-1; FANCJ; G4 helicases; Guanine quadruplex (G4) DNA structures; RTEL1; genomic mapping of SCEs; molecular phenotype; single cell Strand-seq; sister chromatid exchange events (SCEs)

PMID:
31683575
DOI:
10.3390/genes10110870
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