Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease

被引：127

作者：

Gregg, Siobhan Q. ^{[1
,2
]}

Robinson, Andria Rasile ^{[2
,3
]}

Niedernhofer, Laura J. ^{[1
,2
]}

机构：

[1] Univ Pittsburgh, Sch Med, Dept Microbiol & Mol Genet, Pittsburgh, PA 15219 USA

[2] Univ Pittsburgh, Inst Canc, Hillman Canc Ctr, Pittsburgh, PA 15213 USA

[3] Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15261 USA

来源：

DNA REPAIR | 2011年 / 10卷 / 07期

基金：

美国国家卫生研究院;

关键词：

Genetic diseases; Knockout mice; Endogenous damage; Progeria; Cancer; NUCLEOTIDE EXCISION-REPAIR; COMPLEMENTATION GROUP-F; DOUBLE-STRAND BREAKS; PIGMENTOSUM GROUP-F; FACIO-SKELETAL SYNDROME; CROSS-LINK REPAIR; STRUCTURE-SPECIFIC NUCLEASES; HOLLIDAY JUNCTION RESOLVASE; XERODERMA-PIGMENTOSUM; GENE ERCC1;

D O I：

10.1016/j.dnarep.2011.04.026

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

ERCC1-XPF is a structure-specific endonuclease required for nucleotide excision repair, interstrand crosslink repair, and the repair of some double-strand breaks. Mutations in ERCC1 or XPF cause xeroderma pigmentosum, XFE progeroid syndrome or cerebro-oculo-facio-skeletal syndrome, characterized by increased risk of cancer, accelerated aging and severe developmental abnormalities, respectively. This review provides a comprehensive overview of the health impact of ERCC1-XPF deficiency, based on these rare diseases and mouse models of them. This offers an understanding of the tremendous health impact of DNA damage derived from environmental and endogenous sources. (C) 2011 Elsevier B.V. All rights reserved.

引用

页码：781 / 791

页数：11

共 129 条

[1] Role of ERCC1 in removal of long non-homologous tails during targeted homologous recombination [J].

Adair, GR ;

Rolig, RL ;

Moore-Faver, D ;

Zabelshansky, M ;

Wilson, JH ;

Nairn, RS .

EMBO JOURNAL, 2000, 19 (20) :5552-5561

[2] ERCC1-XPF endonuclease facilitates DNA double-strand break repair [J].

Ahmad, Anwaar ;

Robinson, Andria Rasile ;

Duensing, Anette ;

van Drunen, Ellen ;

Beverloo, H. Berna ;

Weisberg, David B. ;

Hasty, Paul ;

Hoeijmakers, Jan H. J. ;

Niedernhofer, Laura J. .

MOLECULAR AND CELLULAR BIOLOGY, 2008, 28 (16) :5082-5092

[3] Mislocalization of XPF-ERCC1 Nuclease Contributes to Reduced DNA Repair in XP-F Patients [J].

Ahmad, Anwaar ;

Enzlin, Jacqueline H. ;

Bhagwat, Nikhil R. ;

Wijgers, Nils ;

Raams, Anja ;

Appledoorn, Esther ;

Theil, Arjan F. ;

Hoeijmakers, Jan H. J. ;

Vermeulen, Wim ;

Jaspers, Nicolaas G. J. ;

Schaerer, Orlando D. ;

Niedernhofer, Laura J. .

PLOS GENETICS, 2010, 6 (03)

[4] The ERCC1/XPF endonuclease is required for efficient single-strand annealing and gene conversion in mammalian cells [J].

Al-Minawi, Ali Z. ;

Saleh-Gohari, Nasrollah ;

Helleday, Thomas .

NUCLEIC ACIDS RESEARCH, 2008, 36 (01) :1-9

[5] 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

[6] 6TH COMPLEMENTATION GROUP IN XERODERMA PIGMENTOSUM [J].

ARASE, S ;

KOZUKA, T ;

TANAKA, K ;

IKENAGA, M ;

TAKEBE, H .

MUTATION RESEARCH, 1979, 59 (01) :143-146

[7] Fanconi anemia and its diagnosis [J].

Auerbach, Arleen D. .

MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS, 2009, 668 (1-2) :4-10

[8]

BAKER BS, 1978, GENETICS, V90, P531

[9] SPECIFIC CLEAVAGE OF MODEL RECOMBINATION AND REPAIR INTERMEDIATES BY THE YEAST RAD1-RAD10 DNA ENDONUCLEASE [J].

BARDWELL, AJ ;

BARDWELL, L ;

TOMKINSON, AE ;

FRIEDBERG, EC .

SCIENCE, 1994, 265 (5181) :2082-2085

[10]

Baron Mark S, 2005, Cleve Clin J Med, V72 Suppl 3, pS38

← 1 2 3 4 5 6 7 8 9 10 →