Human RECQ helicases: roles in cancer, aging, and inherited disease

Abstract

DNA helicases use the energy of ATP hydrolysis to disrupt DNA base pairing and displace proteins from DNA in order to facilitate replication, recombination, transcription, and repair. This article focuses on the human RECQ helicases, five DNA-dependent helicases that play key roles in cellular physiology and disease. Loss of function of three RECQ helicases causes the cancer predisposition syndromes Bloom syndrome, Werner syndrome, and Rothmund-Thomson and related syndromes. We summarize recent work on these syndromes and proteins and discuss disease pathogenesis in light of RECQ helicase biochemical activities and in vivo functions.

Werner syndrome RECQ helicase participates in and directs maintenance of the protein complexes of constitutive heterochromatin in proliferating human cells

“…The RECQ helicase/exonuclease WRN is responsible for the Werner syndrome of premature aging, WS (Oshima et al, 2017b). WRN is one of the five RECQ helicases in human cells and, as other RECQs, WRN is involved in most aspects of DNA metabolism (Sidorova and Monnat Jr, 2015). In replication, WRN maintains optimal replication fork progression through difficult-to-replicate regions of the genome (Drosopoulos et al, 2015; Murfuni et al, 2012; van Wietmarschen et al, 2020), which at least in some case is due to its ability to unwind unusual DNA structures such as G-quadruplexes, and unwind and degrade RNA:DNA hybrids (Suzuki et al, 1997; Suzuki et al, 1999).…”