Nature Search

Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk

The impact of variants of uncertain significance (VUS) on protein function and cancer risk remain unclear. Here, the authors focus on the functional impact of VUS of the PALB2 gene and identify defects in DNA damage repair by homologous recombination associated with increased risk of breast cancer.

Rick A.C.M. Boonen
Sabine C. Knaup
Haico van Attikum
ResearchOpen Access19 Jan 2026
Nature Communications

Volume: 17, P: 1-17
CFAP20 salvages arrested RNAPII from the path of co-directional replisomes

CFAP20 has a key role in rescuing RNA polymerase II complexes that have arrested during DNA transcription, limiting the accumulation of R-loops and preventing collisions between the transcription and replication machinery.

Sidrit Uruci
Daphne E. C. Boer
Martijn S. Luijsterburg
ResearchOpen Access14 Jan 2026
Nature

P: 1-10
Replication-IDentifier links epigenetic and metabolic pathways to the replication stress response

Cells activate various pathways to counter DNA replication stress. Using Replication-IDentifier (Repli-ID), the authors identified 423 genes, including LGE1 and ROX1, linking epigenetic and metabolic pathways to the replication stress response.

Sophie C. van der Horst
Leonie Kollenstart
Haico van Attikum
ResearchOpen Access06 Feb 2025
Nature Communications

Volume: 16, P: 1-16
The Fanconi anemia core complex promotes CtIP-dependent end resection to drive homologous recombination at DNA double-strand breaks

Fanconi anemia proteins are required for repair of DNA interstrand crosslinks. Here, the authors show that these proteins are also recruited to DNA double-strand breaks to promote repair by homologous recombination.

Bert van de Kooij
Fenna J. van der Wal
Haico van Attikum
ResearchOpen Access16 Aug 2024
Nature Communications

Volume: 15, P: 1-17
Multi-pathway DNA-repair reporters reveal competition between end-joining, single-strand annealing and homologous recombination at Cas9-induced DNA double-strand breaks

Correct repair of broken DNA molecules is required to prevent potentially oncogenic mutations. To study repair fidelity and mechanism, van de Kooij et al. developed single cell reporters that detect if DNA breaks are fixed by error-free or mutagenic repair.

Bert van de Kooij
Alex Kruswick
Michael B. Yaffe
ResearchOpen Access08 Sept 2022
Nature Communications

Volume: 13, P: 1-17
Zinc finger protein ZNF384 is an adaptor of Ku to DNA during classical non-homologous end-joining

Classical non-homologous end-joining (cNHEJ) is the dominant pathway used by human cells to repair DNA double-strand breaks (DSBs) and maintain genome stability. Here the authors show that PARP1-driven chromatin expansion allows the recruitment of ZNF384, which in turn recruits Ku70/Ku80 to facilitate cNHEJ.

Jenny Kaur Singh
Rebecca Smith
Haico van Attikum
ResearchOpen Access12 Nov 2021
Nature Communications

Volume: 12, P: 1-21
CHD7 and 53BP1 regulate distinct pathways for the re-ligation of DNA double-strand breaks

Chromatin is dynamically remodeled in response to DNA damage in favour of repair. Here the authors reveal how the chromatin remodeler CHD7 and chromatin binding protein 53BP1 regulate distinct DNA repair pathways.

Magdalena B. Rother
Stefania Pellegrino
Haico van Attikum
ResearchOpen Access13 Nov 2020
Nature Communications

Volume: 11, P: 1-19
Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2

PALB2 is an established breast cancer risk gene but the pathogenicity of many variants remains uncharacterised. Here, the authors present a cDNA-based system for the functional analysis of PALB2 variants of unknown significance.

Rick A. C. M. Boonen
Amélie Rodrigue
Haico van Attikum
ResearchOpen Access22 Nov 2019
Nature Communications

Volume: 10, P: 1-15
TRiC controls transcription resumption after UV damage by regulating Cockayne syndrome protein A

An integrated network of chaperones and protein degradation machineries called the proteostasis network (PN) is required to maintain protein homeostasis. Here the authors show that one of the components of the PN, the chaperonin TRiC, interacts with the core transcription-coupled nucleotide excision repair protein CSA to ensure its assembly into the CRLCSA complex.

Alex Pines
Madelon Dijk
Haico van Attikum
ResearchOpen Access12 Mar 2018
Nature Communications

Volume: 9, P: 1-14
The small CRL4^CSA ubiquitin ligase component DDA1 regulates transcription-coupled repair dynamics

Transcription-Coupled Nucleotide Excision Repair (TC-NER) removes transcription-blocking DNA lesions. This study reveals that DDA1 is a crucial player in TC-NER, protecting transcription programs against genotoxic insults.

Diana A. Llerena Schiffmacher
Shun-Hsiao Lee
Alex Pines
ResearchOpen Access29 Jul 2024
Nature Communications

Volume: 15, P: 1-17
Epigenetics Identifier screens reveal regulators of chromatin acylation and limited specificity of acylation antibodies

Leonie Kollenstart
Sophie C. van der Horst
Haico van Attikum
ResearchOpen Access17 Jun 2021
Scientific Reports

Volume: 11, P: 1-17
XPC–PARP complexes engage the chromatin remodeler ALC1 to catalyze global genome DNA damage repair

Cells employ global genome nucleotide excision repair to repair a broad spectrum of genomic DNA lesions. Here, the authors reveal how chromatin is primed for repair, providing insight into mechanisms of chromatin plasticity during DNA repair.

Charlotte Blessing
Katja Apelt
Martijn S. Luijsterburg
ResearchOpen Access13 Aug 2022
Nature Communications

Volume: 13, P: 1-18
HPF1-dependent histone ADP-ribosylation triggers chromatin relaxation to promote the recruitment of repair factors at sites of DNA damage

Smith, Zentout et al. investigate the role of HPF1 in DNA repair using live-cell imaging methods and find that HPF1-dependent histone ADP-ribosylation drives early process in DNA repair, including chromatin relaxation and repair factor recruitment.

Rebecca Smith
Siham Zentout
Sébastien Huet
Research27 Apr 2023
Nature Structural & Molecular Biology

Volume: 30, P: 678-691
The histone code at DNA breaks: a guide to repair?

Haico van Attikum
Susan M. Gasser
Reviews15 Sept 2005
Nature Reviews Molecular Cell Biology

Volume: 6, P: 757-765
The CHD6 chromatin remodeler is an oxidative DNA damage response factor

Oxidative DNA damage is associated with nucleosome respacing and transcriptional changes requiring chromatin remodeling enzymes. Here, the authors reveal that the CHD6 remodeler is a DNA damage response factor that relocates to damaged sites and promotes cell survival following oxidative damage.

Shaun Moore
N. Daniel Berger
Aaron A. Goodarzi
ResearchOpen Access16 Jan 2019
Nature Communications

Volume: 10, P: 1-16
The yeast Fun30 and human SMARCAD1 chromatin remodellers promote DNA end resection

Fun30 and SMARCAD1 are identified as chromatin remodellers that promote DNA end resection during DNA repair and preserve genome stability in yeast and humans, respectively.

Thomas Costelloe
Raphaël Louge
Bertrand Llorente
Research09 Sept 2012
Nature

Volume: 489, P: 581-584
Map of synthetic rescue interactions for the Fanconi anemia DNA repair pathway identifies USP48

Fanconi anemia is a rare disease caused by defective DNA interstrand crosslink repair. Here the authors observe that USP48 deficiencies reduce chromosomal instability in FA-defective cells, suggesting it might be a potential therapeutic target.

Georgia Velimezi
Lydia Robinson-Garcia
Joanna I. Loizou
ResearchOpen Access11 Jun 2018
Nature Communications

Volume: 9, P: 1-14
The shieldin complex mediates 53BP1-dependent DNA repair

The 53BP1 effector complex shieldin is involved in non-homologous end-joining and immunoglobulin class switching, and acts to protect DNA ends to facilitate the repair of DNA by 53BP1.

Sylvie M. Noordermeer
Salomé Adam
Daniel Durocher
Research18 Jul 2018
Nature

Volume: 560, P: 117-121
Antisense oligonucleotide-mediated exon skipping as a strategy to reduce proteolytic cleavage of ataxin-3

Lodewijk J. A. Toonen
Iris Schmidt
Willeke M. C. van Roon-Mom
ResearchOpen Access12 Oct 2016
Scientific Reports

Volume: 6, P: 1-11

Search

Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk

CFAP20 salvages arrested RNAPII from the path of co-directional replisomes

Replication-IDentifier links epigenetic and metabolic pathways to the replication stress response

The Fanconi anemia core complex promotes CtIP-dependent end resection to drive homologous recombination at DNA double-strand breaks

Multi-pathway DNA-repair reporters reveal competition between end-joining, single-strand annealing and homologous recombination at Cas9-induced DNA double-strand breaks

Zinc finger protein ZNF384 is an adaptor of Ku to DNA during classical non-homologous end-joining

CHD7 and 53BP1 regulate distinct pathways for the re-ligation of DNA double-strand breaks

Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2

TRiC controls transcription resumption after UV damage by regulating Cockayne syndrome protein A

The small CRL4^CSA ubiquitin ligase component DDA1 regulates transcription-coupled repair dynamics

Epigenetics Identifier screens reveal regulators of chromatin acylation and limited specificity of acylation antibodies

XPC–PARP complexes engage the chromatin remodeler ALC1 to catalyze global genome DNA damage repair

HPF1-dependent histone ADP-ribosylation triggers chromatin relaxation to promote the recruitment of repair factors at sites of DNA damage

The histone code at DNA breaks: a guide to repair?

The CHD6 chromatin remodeler is an oxidative DNA damage response factor

The yeast Fun30 and human SMARCAD1 chromatin remodellers promote DNA end resection

Map of synthetic rescue interactions for the Fanconi anemia DNA repair pathway identifies USP48

The shieldin complex mediates 53BP1-dependent DNA repair

Antisense oligonucleotide-mediated exon skipping as a strategy to reduce proteolytic cleavage of ataxin-3

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