DNA G-quadruplexes in the human genome: detection, functions and therapeutic potential

DNA G-quadruplexes (G4s) are guanine-rich sequences that fold into four-stranded structures. Recent progress in the detection and mapping of genomic G4 structures has provided new insights into their functions in regulating transcription and genome stability, and has revealed their potential relevance for cancer therapy. Single-stranded guanine-rich DNA sequences can fold into four-stranded DNA structures called G-quadruplexes (G4s) that arise from the self-stacking of two or more guanine quartets. There has been considerable recent progress in the detection and mapping of G4 structures in the human genome and in biologically relevant contexts. These advancements, many of which align with predictions made previously in computational studies, provide important new insights into the functions of G4 structures in, for example, the regulation of transcription and genome stability, and uncover their potential relevance for cancer therapy.