scholarly journals Reduced recruitment of 53BP1 during interstrand crosslink repair is associated with genetically inherited attenuation of mitomycin C sensitivity in a family with Fanconi anemia

Oncotarget ◽  
2017 ◽  
Vol 9 (3) ◽  
pp. 3779-3793
Author(s):  
Emilie Lesport ◽  
Alina Ferster ◽  
Armand Biver ◽  
Benoit Roch ◽  
Nadia Vasquez ◽  
...  
Keyword(s):  
Mitomycin C ◽  
Fanconi Anemia ◽  
Interstrand Crosslink ◽  
Interstrand Crosslink Repair ◽  
Crosslink Repair

scholarly journals The conserved Fanconi anemia nuclease Fan1 and the SUMO E3 ligase Pli1 act in two novel Pso2-independent pathways of DNA interstrand crosslink repair in yeast

DNA Repair ◽  
2013 ◽  
Vol 12 (12) ◽  
pp. 1011-1023 ◽  
Author(s):  
Y. Fontebasso ◽  
T.J. Etheridge ◽  
A.W. Oliver ◽  
J.M. Murray ◽  
A.M. Carr
Keyword(s):  
Fanconi Anemia ◽  
E3 Ligase ◽  
Interstrand Crosslink ◽  
Sumo E3 Ligase ◽  
Interstrand Crosslink Repair ◽  
Crosslink Repair

Studies of protein–protein interactions in Fanconi anemia pathway to unravel the DNA interstrand crosslink repair mechanism

2017 ◽  
Vol 104 ◽  
pp. 1338-1344 ◽  
Author(s):  
Mohd Quadir Siddiqui ◽  
Yogendra S. Rajpurohit ◽  
Pankaj S. Thapa ◽  
Ganesh Kumar Maurya ◽  
Kuheli Banerjee ◽  
...  
Keyword(s):  
Fanconi Anemia ◽  
Protein Interactions ◽  
Protein Protein Interactions ◽  
Repair Mechanism ◽  
Fanconi Anemia Pathway ◽  
Interstrand Crosslink ◽  
Interstrand Crosslink Repair ◽  
Crosslink Repair

scholarly journals On the role of FAN1 in Fanconi anemia

Blood ◽  
2012 ◽  
Vol 120 (1) ◽  
pp. 86-89 ◽  
Author(s):  
Juan P. Trujillo ◽  
Leonardo B. Mina ◽  
Roser Pujol ◽  
Massimo Bogliolo ◽  
Joris Andrieux ◽  
...  
Keyword(s):  
Fanconi Anemia ◽  
Bone Marrow Failure ◽  
Pcr Amplification ◽  
Minor Role ◽  
Interstrand Crosslink ◽  
Genetic Features ◽  
Chromosome Fragility ◽  
A Minor ◽  
Interstrand Crosslink Repair ◽  
Crosslink Repair

Abstract Fanconi anemia (FA) is a rare bone marrow failure disorder with defective DNA interstrand crosslink repair. Still, there are FA patients without mutations in any of the 15 genes individually underlying the disease. A candidate protein for those patients, FA nuclease 1 (FAN1), whose gene is located at chromosome 15q13.3, is recruited to stalled replication forks by binding to monoubiquitinated FANCD2 and is required for interstrand crosslink repair, suggesting that mutation of FAN1 may cause FA. Here we studied clinical, cellular, and genetic features in 4 patients carrying a homozygous 15q13.3 micro-deletion, including FAN1 and 6 additional genes. Biallelic deletion of the entire FAN1 gene was confirmed by failure of 3′- and 5′-PCR amplification. Western blot analysis failed to show FAN1 protein in the patients' cell lines. Chromosome fragility was normal in all 4 FAN1-deficient patients, although their cells showed mild sensitivity to mitomycin C in terms of cell survival and G2 phase arrest, dissimilar in degree to FA cells. Clinically, there were no symptoms pointing the way to FA. Our results suggest that FAN1 has a minor role in interstrand crosslink repair compared with true FA genes and exclude FAN1 as a novel FA gene.

scholarly journals Structure‐Specific Endonuclease XPF‐ERCC1 Plays a Critical Role in DNA Interstrand Crosslink Repair that is Compromised in Patients with Fanconi Anemia

2015 ◽  
Vol 29 (S1) ◽  
Author(s):  
Christopher Kim ◽  
Cory Holland ◽  
Fuyang Li ◽  
Eun Yong Shim ◽  
Sang Eun Lee
Keyword(s):  
Fanconi Anemia ◽  
Critical Role ◽  
Interstrand Crosslink ◽  
Interstrand Crosslink Repair ◽  
Crosslink Repair

scholarly journals A Genetic Screen Identifies FAN1, a Fanconi Anemia-Associated Nuclease Necessary for DNA Interstrand Crosslink Repair

2010 ◽  
Vol 39 (1) ◽  
pp. 36-47 ◽  
Author(s):  
Agata Smogorzewska ◽  
Rohini Desetty ◽  
Takamune T. Saito ◽  
Michael Schlabach ◽  
Francis P. Lach ◽  
...  
Keyword(s):  
Fanconi Anemia ◽  
Genetic Screen ◽  
Interstrand Crosslink ◽  
Interstrand Crosslink Repair ◽  
Crosslink Repair
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