Mechanism, cellular functions and cancer roles of polymerase-theta-mediated DNA end joining

DA Ramsden, J Carvajal-Garcia… - Nature reviews Molecular …, 2022 - nature.com
Cellular pathways that repair chromosomal double-strand breaks (DSBs) have pivotal roles
in cell growth, development and cancer. These DSB repair pathways have been the target of …

R-loops as Janus-faced modulators of DNA repair

A Marnef, G Legube - Nature cell biology, 2021 - nature.com
R-loops are non-B DNA structures with intriguing dual consequences for gene expression
and genome stability. In addition to their recognized roles in triggering DNA double-strand …

Loop extrusion as a mechanism for formation of DNA damage repair foci

C Arnould, V Rocher, AL Finoux, T Clouaire, K Li… - Nature, 2021 - nature.com
The repair of DNA double-strand breaks (DSBs) is essential for safeguarding genome
integrity. When a DSB forms, the PI3K-related ATM kinase rapidly triggers the establishment …

Chromatin compartmentalization regulates the response to DNA damage

C Arnould, V Rocher, F Saur, AS Bader, F Muzzopappa… - Nature, 2023 - nature.com
The DNA damage response is essential to safeguard genome integrity. Although the
contribution of chromatin in DNA repair has been investigated,, the contribution of …

[HTML][HTML] Histone ubiquitination: an integrative signaling platform in genome stability

F Mattiroli, L Penengo - Trends in Genetics, 2021 - cell.com
Complex mechanisms are in place to maintain genome stability. Ubiquitination of chromatin
plays a central role in these mechanisms. The ever-growing complexity of the ubiquitin (Ub) …

53BP1 regulates heterochromatin through liquid phase separation

L Zhang, X Geng, F Wang, J Tang, Y Ichida… - Nature …, 2022 - nature.com
Human 53BP1 is primarily known as a key player in regulating DNA double strand break
(DSB) repair choice; however, its involvement in other biological process is less well …

Multiscale reorganization of the genome following DNA damage facilitates chromosome translocations via nuclear actin polymerization

J Zagelbaum, A Schooley, J Zhao… - Nature Structural & …, 2023 - nature.com
Nuclear actin-based movements have been shown to orchestrate clustering of DNA double-
strand breaks (DSBs) into homology-directed repair domains. Here we describe multiscale …

TP53-dependent toxicity of CRISPR/Cas9 cuts is differential across genomic loci and can confound genetic screening

MM Álvarez, J Biayna, F Supek - Nature communications, 2022 - nature.com
CRISPR/Cas9 gene editing can inactivate genes in a precise manner. This process involves
DNA double-strand breaks (DSB), which may incur a loss of cell fitness. We hypothesize that …

Structural variations in cancer and the 3D genome

F Dubois, N Sidiropoulos, J Weischenfeldt… - Nature Reviews …, 2022 - nature.com
Structural variations (SVs) affect more of the cancer genome than any other type of somatic
genetic alteration but difficulties in detecting and interpreting them have limited our …

[HTML][HTML] A meta-analysis of reversion mutations in BRCA genes identifies signatures of DNA end-joining repair mechanisms driving therapy resistance

L Tobalina, J Armenia, E Irving, MJ O'Connor… - Annals of …, 2021 - Elsevier
Background Germline mutations in the BRCA1 or BRCA2 (BRCA) genes predispose to
hereditary breast and ovarian cancer and, mostly in the case of BRCA2, are also prevalent …