Fanconi anaemia and the repair of Watson and Crick DNA crosslinks

被引:478
作者
Kottemann, Molly C. [1 ]
Smogorzewska, Agata [1 ]
机构
[1] Rockefeller Univ, Lab Genome Maintenance, New York, NY 10065 USA
基金
美国国家卫生研究院;
关键词
STRUCTURE-SPECIFIC ENDONUCLEASES; HOLLIDAY JUNCTION RESOLVASE; CANCER SUSCEPTIBILITY GENE; BREAK REPAIR; HOMOLOGOUS RECOMBINATION; MONOUBIQUITINATED FANCD2; HEMATOPOIETIC STEM; CELLS DEFICIENT; HELICASE BRIP1; OVARIAN-CANCER;
D O I
10.1038/nature11863
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
The function of Fanconi anaemia proteins is to maintain genomic stability. Their main role is in the repair of DNA interstrand crosslinks, which, by covalently binding the Watson and the Crick strands of DNA, impede replication and transcription. Inappropriate repair of interstrand crosslinks causes genomic instability, leading to cancer; conversely, the toxicity of crosslinking agents makes them a powerful chemotherapeutic. Fanconi anaemia proteins can promote stem-cell function, prevent tumorigenesis, stabilize replication forks and inhibit inaccurate repair. Recent advances have identified endogenous aldehydes as possible culprits of DNA damage that may induce the phenotypes seen in patients with Fanconi anaemia.
引用
收藏
页码:356 / 363
页数:8
相关论文
共 75 条
[1]   Preventing Nonhomologous End Joining Suppresses DNA Repair Defects of Fanconi Anemia [J].
Adamo, Adele ;
Collis, Spencer J. ;
Adelman, Carrie A. ;
Silva, Nicola ;
Horejsi, Zuzana ;
Ward, Jordan D. ;
Martinez-Perez, Enrique ;
Boulton, Simon J. ;
La Volpe, Adriana .
MOLECULAR CELL, 2010, 39 (01) :25-35
[2]   Mechanistic Insight into Site-Restricted Monoubiquitination of FANCD2 by Ube2t, FANCL, and FANCI [J].
Alpi, Arno F. ;
Pace, Paul E. ;
Babu, M. Madan ;
Patel, Ketan J. .
MOLECULAR CELL, 2008, 32 (06) :767-777
[3]   Drosophila MUS312 and the Vertebrate Ortholog BTBD12 Interact with DNA Structure-Specific Endonucleases in DNA Repair and Recombination [J].
Andersen, Sabrina L. ;
Bergstralh, Daniel T. ;
Kohl, Kathryn P. ;
LaRocque, Jeannine R. ;
Moore, Chris B. ;
Sekelsky, Jeff .
MOLECULAR CELL, 2009, 35 (01) :128-135
[4]   Fanconi anemia and its diagnosis [J].
Auerbach, Arleen D. .
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS, 2009, 668 (1-2) :4-10
[5]   Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer [J].
Berwick, Marianne ;
Satagopan, Jaya M. ;
Ben-Porat, Leah ;
Carlson, Ann ;
Mah, Katherine ;
Henry, Rashida ;
Diotti, Raffaella ;
Milton, Kelly ;
Pujara, Kanan ;
Landers, Tom ;
Batish, Sat Dev ;
Morales, Jose ;
Schindler, Detlev ;
Hanenberg, Helmut ;
Hromas, Robert ;
Levran, Orna ;
Auerbach, Arleen D. .
CANCER RESEARCH, 2007, 67 (19) :9591-9596
[6]   XPF-ERCC1 Participates in the Fanconi Anemia Pathway of Cross-Link Repair [J].
Bhagwat, Nikhil ;
Olsen, Anna L. ;
Wang, Anderson T. ;
Hanada, Katsuhiro ;
Stuckert, Patricia ;
Kanaar, Roland ;
D'Andrea, Alan ;
Niedernhofer, Laura J. ;
McHugh, Peter J. .
MOLECULAR AND CELLULAR BIOLOGY, 2009, 29 (24) :6427-6437
[7]   BRCA1 Functions Independently of Homologous Recombination in DNA Interstrand Crosslink Repair [J].
Bunting, Samuel F. ;
Callen, Elsa ;
Kozak, Marina L. ;
Kim, Jung Min ;
Wong, Nancy ;
Lopez-Contreras, Andres J. ;
Ludwig, Thomas ;
Baer, Richard ;
Faryabi, Robert B. ;
Malhowski, Amy ;
Chen, Hua-Tang ;
Fernandez-Capetillo, Oscar ;
D'Andrea, Alan ;
Nussenzweig, Andre .
MOLECULAR CELL, 2012, 46 (02) :125-135
[8]   Bone Marrow Failure in Fanconi Anemia Is Triggered by an Exacerbated p53/p21 DNA Damage Response that Impairs Hematopoietic Stem and Progenitor Cells [J].
Ceccaldi, Raphael ;
Parmar, Kalindi ;
Mouly, Enguerran ;
Delord, Marc ;
Kim, Jung Min ;
Regairaz, Marie ;
Pla, Marika ;
Vasquez, Nadia ;
Zhang, Qing-Shuo ;
Pondarre, Corinne ;
de Latour, Regis Peffault ;
Gluckman, Eliane ;
Cavazzana-Calvo, Marina ;
Leblanc, Thierry ;
Larghero, Jerome ;
Grompe, Markus ;
Socie, Gerard ;
D'Andrea, Alan D. ;
Soulier, Jean .
CELL STEM CELL, 2012, 11 (01) :36-49
[9]   Replication stress induces sister-chromatid bridging at fragile site loci in mitosis [J].
Chan, Kok Lung ;
Palmai-Pallag, Timea ;
Ying, Songmin ;
Hickson, Ian D. .
NATURE CELL BIOLOGY, 2009, 11 (06) :753-U120
[10]   DNA interstrand crosslink repair and cancer [J].
Deans, Andrew J. ;
West, Stephen C. .
NATURE REVIEWS CANCER, 2011, 11 (07) :467-480