The Fanconi anaemia pathway: newyplayers and new functions

被引：542

作者：

Ceccaldi, Raphael

Sarangi, Prabha

D'Andrea, Alan D. ^{[1
]}

机构：

[1] Harvard Univ, Sch Med, Dept Radiat Oncol, Boston, MA 02215 USA

来源：

NATURE REVIEWS MOLECULAR CELL BIOLOGY | 2016年 / 17卷 / 06期

基金：

美国国家卫生研究院;

关键词：

CROSS-LINK REPAIR; DOUBLE-STRAND BREAK; REPLICATION FORK RECOVERY; COMPLEMENTATION GROUP-M; DNA-POLYMERASE-ZETA; BONE-MARROW FAILURE; HOMOLOGOUS-RECOMBINATION; GENOME STABILITY; FANCD2; MONOUBIQUITINATION; XERODERMA-PIGMENTOSUM;

D O I：

10.1038/nrm.2016.48

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

The Fanconi anaemia pathway repairs DNA interstrand crosslinks (ICLs) in the genome. Our understanding of this complex pathway is still evolving, as new components continue to be identified and new biochemical systems are used to elucidate the molecular steps of repair. The Fanconi anaemia pathway uses components of other known DNA repair processes to achieve proper repair of ICLs. Moreover, Fanconi anaemia proteins have functions in genome maintenance beyond their canonical roles of repairing ICLs. Such functions include the stabilization of replication forks and the regulation of cytokinesis. Thus, Fanconi anaemia proteins are emerging as master regulators of genomic integrity that coordinate several repair processes. Here, we summarize our current understanding of the functions of the Fanconi anaemia pathway in ICL repair, together with an overview of its connections with other repair pathways and its emerging roles in genome maintenance.

引用

页码：337 / 349

页数：13

共 137 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] A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51 [J].

Ameziane, Najim ;

May, Patrick ;

Haitjema, Anneke ;

van de Vrugt, Henri J. ;

van Rossum-Fikkert, Sari E. ;

Ristic, Dejan ;

Williams, Gareth J. ;

Balk, Jesper ;

Rockx, Davy ;

Li, Hong ;

Rooimans, Martin A. ;

Oostra, Anneke B. ;

Velleuer, Eunike ;

Dietrich, Ralf ;

Bleijerveld, Onno B. ;

Altelaar, A. F. Maarten ;

Meijers-Heijboer, Hanne ;

Joenje, Hans ;

Glusman, Gustavo ;

Roach, Jared ;

Hood, Leroy ;

Galas, David ;

Wyman, Claire ;

Balling, Rudi ;

den Dunnen, Johan ;

de Winter, Johan P. ;

Kanaar, Roland ;

Gelinas, Richard ;

Dorsman, Josephine C. .

NATURE COMMUNICATIONS, 2015, 6

[3] ATR couples FANCD2 monoubiquitination to the DNA-damage response [J].

Andreassen, PR ;

D'Andrea, AD ;

Taniguchi, T .

GENES & DEVELOPMENT, 2004, 18 (16) :1958-1963

[4] Integrated genomic analyses of ovarian carcinoma [J].

Bell, D. ;

Berchuck, A. ;

Birrer, M. ;

Chien, J. ;

Cramer, D. W. ;

Dao, F. ;

Dhir, R. ;

DiSaia, P. ;

Gabra, H. ;

Glenn, P. ;

Godwin, A. K. ;

Gross, J. ;

Hartmann, L. ;

Huang, M. ;

Huntsman, D. G. ;

Iacocca, M. ;

Imielinski, M. ;

Kalloger, S. ;

Karlan, B. Y. ;

Levine, D. A. ;

Mills, G. B. ;

Morrison, C. ;

Mutch, D. ;

Olvera, N. ;

Orsulic, S. ;

Park, K. ;

Petrelli, N. ;

Rabeno, B. ;

Rader, J. S. ;

Sikic, B. I. ;

Smith-McCune, K. ;

Sood, A. K. ;

Bowtell, D. ;

Penny, R. ;

Testa, J. R. ;

Chang, K. ;

Dinh, H. H. ;

Drummond, J. A. ;

Fowler, G. ;

Gunaratne, P. ;

Hawes, A. C. ;

Kovar, C. L. ;

Lewis, L. R. ;

Morgan, M. B. ;

Newsham, I. F. ;

Santibanez, J. ;

Reid, J. G. ;

Trevino, L. R. ;

Wu, Y. -Q. ;

Wang, M. .

NATURE, 2011, 474 (7353) :609-615

[5] MAD2L2 controls DNA repair at telomeres and DNA breaks by inhibiting 5′ end resection [J].

Boersma, Vera ;

Moatti, Nathalie ;

Segura-Bayona, Sandra ;

Peuscher, Marieke H. ;

van der Torre, Jaco ;

Wevers, Brigitte A. ;

Orthwein, Alexandre ;

Durocher, Daniel ;

Jacobs, Jacqueline J. L. .

NATURE, 2015, 521 (7553) :537-U291

[6] Histone H2AX and Fanconi anemia FANCD2 function in the same pathway to maintain chromosome stability [J].

Bogliolo, Massimo ;

Lyakhovich, Alex ;

Callen, Elsa ;

Castella, Maria ;

Cappelli, Enrico ;

Ramirez, Maria J. ;

Creus, Amadeu ;

Marcos, Ricard ;

Kalb, Reinhard ;

Neveling, Kornelia ;

Schindler, Detlev ;

Surralles, Jordi .

EMBO JOURNAL, 2007, 26 (05) :1340-1351

[7] Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics [J].

Bogliolo, Massimo ;

Surralles, Jordi .

CURRENT OPINION IN GENETICS & DEVELOPMENT, 2015, 33 :32-40

[8] Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia [J].

Bogliolo, Massimo ;

Schuster, Beatrice ;

Stoepker, Chantal ;

Derkunt, Burak ;

Su, Yan ;

Raams, Anja ;

Trujillo, Juan P. ;

Minguillon, Jordi ;

Ramirez, Maria J. ;

Pujol, Roser ;

Casado, Jose A. ;

Banos, Rocio ;

Rio, Paula ;

Knies, Kerstin ;

Zuniga, Sheila ;

Benitez, Javier ;

Bueren, Juan A. ;

Jaspers, Nicolaas G. J. ;

Schaerer, Orlando D. ;

de Winter, Johan P. ;

Schindler, Detlev ;

Surralles, Jordi .

AMERICAN JOURNAL OF HUMAN GENETICS, 2013, 92 (05) :800-806

[9] Structure of the ubiquitin-binding zinc finger domain of human DNA Y-polymerase η [J].

Bomar, Martha G. ;

Pai, Ming-Tao ;

Tzeng, Shiou-Ru ;

Li, Shawn Shun-Cheng ;

Zhou, Pei .

EMBO REPORTS, 2007, 8 (03) :247-251

[10] Regulation of the Rev1-pol ζ complex during bypass of a DNA interstrand cross-link [J].

Budzowska, Magda ;

Graham, Thomas G. W. ;

Sobeck, Alexandra ;

Waga, Shou ;

Walter, Johannes C. .

EMBO JOURNAL, 2015, 34 (14) :1971-1985

← 1 2 3 4 5 6 7 8 9 10 →