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

来源：

NATURE | 2013年 / 493卷 / 7432期

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

页码：356 / 363

页数：8

共 75 条

[51] DNA robustly stimulates FANCD2 monoubiquitylation in the complex with FANCI [J].

Sato, Koichi ;

Toda, Kazue ;

Ishiai, Masamichi ;

Takata, Minoru ;

Kurumizaka, Hitoshi .

NUCLEIC ACIDS RESEARCH, 2012, 40 (10) :4553-4561

[52] A Distinct Replication Fork Protection Pathway Connects Fanconi Anemia Tumor Suppressors to RAD51-BRCA1/2 [J].

Schlacher, Katharina ;

Wu, Hong ;

Jasin, Maria .

CANCER CELL, 2012, 22 (01) :106-116

[53] Double-Strand Break Repair-Independent Role for BRCA2 in Blocking Stalled Replication Fork Degradation by MRE11 [J].

Schlacher, Katharina ;

Christ, Nicole ;

Siaud, Nicolas ;

Egashira, Akinori ;

Wu, Hong ;

Jasin, Maria .

CELL, 2011, 145 (04) :529-542

[54] Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles [J].

Seal, Sheila ;

Thompson, Deborah ;

Renwick, Anthony ;

Elliott, Anna ;

Kelly, Patrick ;

Barfoot, Rita ;

Chagtai, Tasnim ;

Jayatilake, Hiran ;

Ahmed, Munaza ;

Spanova, Katarina ;

North, Bernard ;

McGuffog, Lesley ;

Evans, D. Gareth ;

Eccles, Diana ;

Easton, Douglas F. ;

Stratton, Michael R. ;

Rahman, Nazneen .

NATURE GENETICS, 2006, 38 (11) :1239-1241

[55] Recruitment of Fanconi Anemia and Breast Cancer Proteins to DNA Damage Sites Is Differentially Governed by Replication [J].

Shen, Xi ;

Do, Huong ;

Li, Yongjiang ;

Chung, Woo-Hyun ;

Tomasz, Maria ;

de Winter, Johan P. ;

Xia, Bing ;

Elledge, Stephen J. ;

Wang, Weidong ;

Li, Lei .

MOLECULAR CELL, 2009, 35 (05) :716-723

[56] Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair [J].

Smogorzewska, Agata ;

Matsuoka, Shuhei ;

Vinciguerra, Patrizia ;

McDonald, E. Robert, III ;

Hurov, Kristen E. ;

Luo, Ji ;

Ballif, Bryan A. ;

Gygi, Steven P. ;

Hofmann, Kay ;

D'Andrea, Alan D. ;

Elledge, Stephen J. .

CELL, 2007, 129 (02) :289-301

[57] A Genetic Screen Identifies FAN1, a Fanconi Anemia-Associated Nuclease Necessary for DNA Interstrand Crosslink Repair [J].

Smogorzewska, Agata ;

Desetty, Rohini ;

Saito, Takamune T. ;

Schlabach, Michael ;

Lach, Francis P. ;

Sowa, Mathew E. ;

Clark, Alan B. ;

Kunkel, Thomas A. ;

Harper, J. Wade ;

Colaiacovo, Monica P. ;

Elledge, Stephen J. .

MOLECULAR CELL, 2010, 39 (01) :36-47

[58] SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype [J].

Stoepker, Chantal ;

Hain, Karolina ;

Schuster, Beatrice ;

Hilhorst-Hofstee, Yvonne ;

Rooimans, Martin A. ;

Steltenpool, Jurgen ;

Oostra, Anneke B. ;

Eirich, Katharina ;

Korthof, Elisabeth T. ;

Nieuwint, Aggie W. M. ;

Jaspers, Nicolaas G. J. ;

Bettecken, Thomas ;

Joenje, Hans ;

Schindler, Detlev ;

Rouse, John ;

de Winter, Johan P. .

NATURE GENETICS, 2011, 43 (02) :138-U85

[59] Mammalian BTBD12/SLX4 Assembles A Holliday Junction Resolvase and Is Required for DNA Repair [J].

Svendsen, Jennifer M. ;

Smogorzewska, Agata ;

Sowa, Mathew E. ;

O'Connell, Brenda C. ;

Gygi, Steven P. ;

Elledge, Stephen J. ;

Harper, J. Wade .

CELL, 2009, 138 (01) :63-77

[60] Double-Strand Break End Resection and Repair Pathway Choice [J].

Symington, Lorraine S. ;

Gautier, Jean .

ANNUAL REVIEW OF GENETICS, VOL 45, 2011, 45 :247-271

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