Explanipedia

Fancl-mutant mice reveal central role of monoubiquitination in Fanconi anemia and a model for therapeutic gene editing Open

Astrid Glaser, Kirsten A. Fairfax, Débora A. Casolari, Angelina Ristovski, Vincent J. Murphy , et al. · 2025

Fanconi anemia (FA) is a rare genetic disorder causing progressive loss of hematopoietic stem cells (HSCs) and bone marrow failure. Most cases result from deficient monoubiquitination of FANCD2 by the FA core complex. However, as additiona…

Structural basis of Fanconi anemia pathway activation by FANCM Open

Rohan Bythell‐Douglas, Sylvie van Twest, Lara Abbouche, Elyse Dunn, Rachel Coulthard-Graf , et al. · 2025

FANCM is crucial in genome maintenance, functioning in the Fanconi anemia (FA) pathway, alternative lengthening of telomeres (ALT), and replication fork protection. FANCM recognizes branched DNA structures and promotes their remodeling thr…

Mechanism of structure-specific DNA binding by the FANCM branchpoint translocase Open

Lara Abbouche, Vincent J. Murphy, Jixuan Gao, Sylvie van Twest, Alexander P. Sobinoff , et al. · 2024

FANCM is a DNA repair protein that recognizes stalled replication forks, and recruits downstream repair factors. FANCM activity is also essential for the survival of cancer cells that utilize the Alternative Lengthening of Telomeres (ALT) …

Mechanism of structure-specific DNA binding by the FANCM branchpoint translocase Open

Lara Abbouche, Vincent J. Murphy, Jixuan Gao, Sylvie van Twest, Alexander P. Sobinoff , et al. · 2024

FANCM is a DNA repair protein that recognizes stalled replication forks, and recruits downstream repair factors. FANCM activity is also essential for the survival of cancer cells that utilize the Alternative Lengthening of Telomeres (ALT) …

Publisher Correction: Nuclear export of circular RNA Open

Linh H. Ngo, Andrew G. Bert, B. Kate Dredge, Tobias Williams, Vincent J. Murphy , et al. · 2024

ZNF827 is a single-stranded DNA binding protein that regulates the ATR-CHK1 DNA damage response pathway Open

Sile F. Yang, Christopher B. Nelson, Jadon Wells, Madushan Fernando, Robert Lu , et al. · 2024

The ATR-CHK1 DNA damage response pathway becomes activated by the exposure of RPA-coated single-stranded DNA (ssDNA) that forms as an intermediate during DNA damage and repair, and as a part of the replication stress response. Here, we ide…

Branchpoint translocation by fork remodelers as a general mechanism of R-loop removal Open

Charlotte Hodson, Sylvie van Twest, Małgorzata Dylewska, Julienne J. O’Rourke, Winnie Tan , et al. · 2022

Co-transcriptional R loops arise from stalling of RNA polymerase, leading to the formation of stable DNA:RNA hybrids. Unresolved R loops promote genome instability but are counteracted by helicases and nucleases. Here, we show that branchp…

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

Charlotte Hodson, Jason K. K. Low, Sylvie van Twest, Samuel E. Jones, Paolo Swuec , et al. · 2022

Significance Bloom syndrome complex (BS complex) is necessary for maintenance of genome stability and suppression of cancer-causing mutations. Composed of a helicase, a topoisomerase, and two scaffolds, the BS complex is implicated in seve…

Methodology for the identification of small molecule inhibitors of the Fanconi Anaemia ubiquitin E3 ligase complex Open

Michael F. Sharp, Vincent J. Murphy, Sylvie van Twest, Winnie Tan, Jennii Lui , et al. · 2020

Monoubiquitination by the human Fanconi anemia core complex clamps FANCI:FANCD2 on DNA in filamentous arrays Open

Winnie Tan, Sylvie van Twest, Andrew Leis, Rohan Bythell‐Douglas, Vincent J. Murphy , et al. · 2020

FANCI:FANCD2 monoubiquitination is a critical event for replication fork stabilization by the Fanconi anemia (FA) DNA repair pathway. It has been proposed that at stalled replication forks, monoubiquitinated-FANCD2 serves to recruit DNA re…

Author response: Monoubiquitination by the human Fanconi anemia core complex clamps FANCI:FANCD2 on DNA in filamentous arrays Open

Winnie Tan, Sylvie van Twest, Andrew Leis, Rohan Bythell‐Douglas, Vincent J. Murphy , et al. · 2020

Article Figures and data Abstract eLife digest Introduction Results Discussion Materials and methods Data availability References Decision letter Author response Article and author information Metrics Abstract FANCI:FANCD2 monoubiquitinati…

Association of clinical severity with FANCB variant type in Fanconi anemia Open

Moonjung Jung, Ramanagouda Ramanagoudr‐Bhojappa, Sylvie van Twest, Rasim Özgür Rosti, Vincent J. Murphy , et al. · 2020

Fanconi anemia (FA) is the most common genetic cause of bone marrow failure and is caused by inherited pathogenic variants in any of 22 genes. Of these, only FANCB is X-linked. We describe a cohort of 19 children with FANCB variants, from …

Preparation and purification of mono-ubiquitinated proteins using Avi-tagged ubiquitin Open

Winnie Tan, Vincent J. Murphy, Aude Charron, Sylvie van Twest, Michael F. Sharp , et al. · 2020

Site-specific conjugation of ubiquitin onto a range of DNA repair proteins regulates their critical functions in the DNA damage response. Biochemical and structural characterization of these functions are limited by an absence of tools for…

ATR-Mediated FANCI Phosphorylation Regulates Both Ubiquitination and Deubiquitination of FANCD2 Open

Winnie Tan, Sylvie van Twest, Vincent J. Murphy, Andrew J. Deans · 2020

DNA interstrand crosslinks (ICLs) are a physical barrier to replication and therefore toxic to cell viability. An important mechanism for the removal of ICLs is the Fanconi Anemia DNA repair pathway, which is initiated by mono-ubiquitinati…

Monoubiquitination by the Fanconi Anemia core complex locks FANCI:FANCD2 on DNA in filamentous arrays Open

Winnie Tan, Sylvie van Twest, Andrew Leis, Rohan Bythell‐Douglas, Vincent J. Murphy , et al. · 2019

FANCI:FANCD2 monoubiquitination is a critical event for replication fork stabilization by the Fanconi anemia (FA) DNA repair pathway. It has been proposed that at stalled replication forks, monoubiquitinated-FANCD2 serves to recruit DNA re…

Clinical severity in Fanconi anemia correlates with residual function of FANCB missense variants Open

Moonjung Jung, Ramanagouda Ramanagoudr‐Bhojappa, Sylvie van Twest, Rasim Özgür Rosti, Vincent J. Murphy , et al. · 2019

Fanconi anemia (FA) is the most common genetic cause of bone marrow failure, and is caused by inherited pathogenic variants in any of 22 genes. Of these, only FANCB is X-linked. We describe a cohort of 19 children with FANCB variants, from…

ATP-dependent helicase activity is dispensable for the physiological functions of Recql4 Open

Wilson Castillo‐Tandazo, Monique Smeets, Vincent J. Murphy, Rui Liu, Charlotte Hodson , et al. · 2019

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by skin rash (poikiloderma), skeletal dysplasia, small stature, juvenile cataracts, sparse or absent hair, and predisposition to specific malignancies suc…

FANCM-family branchpoint translocases remove co-transcriptional R-loops Open

Charlotte Hodson, Julienne J. O’Rourke, Sylvie van Twest, Vincent J. Murphy, Elyse Dunn , et al. · 2018

Co-transcriptional R-loops arise from physiological or aberrant stalling of RNA polymerase, leading to formation of stable DNA:RNA hybrids. Unresolved R-loops can promote genome instability. Here, we show that the Fanconi anemia- and breas…

Mechanism of Ubiquitination and Deubiquitination in the Fanconi Anemia Pathway Open

Sylvie van Twest, Vincent J. Murphy, Charlotte Hodson, Winnie Tan, Paolo Swuec , et al. · 2016

The FA Core Complex Contains a Homo-dimeric Catalytic Module for the Symmetric Mono-ubiquitination of FANCI-FANCD2 Open

Paolo Swuec, Ludovic Renault, Aaron J. Borg, Fenil Shah, Vincent J. Murphy , et al. · 2016

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