Dynamic alternative DNA structures in biology and disease

G Wang, KM Vasquez - Nature Reviews Genetics, 2023 - nature.com
Repetitive elements in the human genome, once considered 'junk DNA', are now known to
adopt more than a dozen alternative (that is, non-B) DNA structures, such as self-annealed …

History of DNA helicases

RM Brosh Jr, SW Matson - Genes, 2020 - mdpi.com
Since the discovery of the DNA double helix, there has been a fascination in understanding
the molecular mechanisms and cellular processes that account for:(i) the transmission of …

RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1

B Abu-Libdeh, SS Jhujh, S Dhar… - The Journal of …, 2022 - Am Soc Clin Investig
Despite being the first homolog of the bacterial RecQ helicase to be identified in humans,
the function of RECQL1 remains poorly characterized. Furthermore, unlike other members of …

DNA polymerase θ: a unique multifunctional end-joining machine

SJ Black, E Kashkina, T Kent, RT Pomerantz - Genes, 2016 - mdpi.com
The gene encoding DNA polymerase θ (Polθ) was discovered over ten years ago as having
a role in suppressing genome instability in mammalian cells. Studies have now clearly …

Structure of the helicase domain of DNA polymerase theta reveals a possible role in the microhomology-mediated end-joining pathway

JA Newman, CDO Cooper, H Aitkenhead, O Gileadi - Structure, 2015 - cell.com
DNA polymerase theta (Polθ) has been identified as a crucial alternative non-homologous
end-joining factor in mammalian cells. Polθ is upregulated in a range of cancer cell types …

New insights into DNA helicases as druggable targets for cancer therapy

A Datta, RM Brosh Jr - Frontiers in molecular biosciences, 2018 - frontiersin.org
Small molecules that deter the functions of DNA damage response machinery are
postulated to be useful for enhancing the DNA damaging effects of chemotherapy or ionizing …

Positive and negative regulators of RAD51/DMC1 in homologous recombination and DNA replication

M Ito, Y Fujita, A Shinohara - DNA repair, 2024 - Elsevier
RAD51 recombinase plays a central role in homologous recombination (HR) by forming a
nucleoprotein filament on single-stranded DNA (ssDNA) to catalyze homology search and …

Large-scale expansions of Friedreich's ataxia GAA• TTC repeats in an experimental human system: role of DNA replication and prevention by LNA-DNA …

A Rastokina, J Cebrián, N Mozafari… - Nucleic Acids …, 2023 - academic.oup.com
Friedreich's ataxia (FRDA) is caused by expansions of GAA• TTC repeats in the first intron of
the human FXN gene that occur during both intergenerational transmissions and in somatic …

Crystal structure of the Bloom's syndrome helicase indicates a role for the HRDC domain in conformational changes

JA Newman, P Savitsky, CK Allerston… - Nucleic acids …, 2015 - academic.oup.com
Bloom's syndrome helicase (BLM) is a member of the RecQ family of DNA helicases, which
play key roles in the maintenance of genome integrity in all organism groups. We describe …

Mechanism of Bloom syndrome complex assembly required for double Holliday junction dissolution and genome stability

C Hodson, JKK Low, S van Twest… - Proceedings of the …, 2022 - National Acad Sciences
The RecQ-like helicase BLM cooperates with topoisomerase IIIα, RMI1, and RMI2 in a
heterotetrameric complex (the “Bloom syndrome complex”) for dissolution of double Holliday …