The role of double-strand break repair - insights from human genetics

被引：429

作者：

O'Driscoll, M ^{[1
]}

Jeggo, PA ^{[1
]}

机构：

[1] Univ Sussex, Genome Damage & Stabil Ctr, Brighton BN1 9RQ, E Sussex, England

来源：

NATURE REVIEWS GENETICS | 2006年 / 7卷 / 01期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1038/nrg1746

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The efficient repair of DNA double-strand breaks is crucial in safeguarding the genomic integrity of organisms. Responses to double-strand breaks include complex signal-transduction, cell-cycle-checkpoint and repair pathways. Defects in these pathways lead to several human disorders with pleiotropic clinical features. Dissection of the molecular basis that underlies the diverse clinical features is enhancing our understanding of the damage-response mechanisms and their role in development, and might ultimately facilitate treatment.

引用

页码：45 / 54

页数：10

共 114 条

[1] The DNA double-strand break response in the nervous system [J].

Abner, CW ;

McKinnon, PJ .

DNA REPAIR, 2004, 3 (8-9) :1141-1147

[2] Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway [J].

Alderton, GK ;

Joenje, H ;

Varon, R ;

Borglum, AD ;

Jeggo, PA ;

O'Driscoll, M .

HUMAN MOLECULAR GENETICS, 2004, 13 (24) :3127-3138

[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] Dysfunctional mammalian telomeres join with DNA double-strand breaks [J].

Bailey, SM ;

Cornforth, MN ;

Ullrich, RL ;

Goodwin, EH .

DNA REPAIR, 2004, 3 (04) :349-357

[5] A DNA INSERTION DELETION NECESSITATES AN ABERRANT RNA SPLICE ACCOUNTING FOR A MU-HEAVY CHAIN DISEASE PROTEIN [J].

BAKHSHI, A ;

GUGLIELMI, P ;

SIEBENLIST, U ;

RAVETCH, JV ;

JENSEN, JP ;

KORSMEYER, SJ .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1986, 83 (08) :2689-2693

[6] DEFECTIVE DNA-DEPENDENT PROTEIN-KINASE ACTIVITY IS LINKED TO V(D)J RECOMBINATION AND DNA-REPAIR DEFECTS ASSOCIATED WITH THE MURINE SCID MUTATION [J].

BLUNT, T ;

FINNIE, NJ ;

TACCIOLI, GE ;

SMITH, GCM ;

DEMENGEOT, J ;

GOTTLIEB, TM ;

MIZUTA, R ;

VARGHESE, AJ ;

ALT, FW ;

JEGGO, PA ;

JACKSON, SP .

CELL, 1995, 80 (05) :813-823

[7] ATM is required for the cellular response to thymidine induced replication fork stress [J].

Bolderson, E ;

Scorah, J ;

Helleday, T ;

Smythe, C ;

Meuth, M .

HUMAN MOLECULAR GENETICS, 2004, 13 (23) :2937-2945

[8] THE SCID MOUSE MUTANT - DEFINITION, CHARACTERIZATION, AND POTENTIAL USES [J].

BOSMA, MJ ;

CARROLL, AM .

ANNUAL REVIEW OF IMMUNOLOGY, 1991, 9 :323-350

[9] Components of the Ku-dependent non-homologous end-joining pathway are involved in telomeric length maintenance and telomeric silencing [J].

Boulton, SJ ;

Jackson, SP .

EMBO JOURNAL, 1998, 17 (06) :1819-1828

[10] Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase [J].

Bryant, HE ;

Schultz, N ;

Thomas, HD ;

Parker, KM ;

Flower, D ;

Lopez, E ;

Kyle, S ;

Meuth, M ;

Curtin, NJ ;

Helleday, T .

NATURE, 2005, 434 (7035) :913-917

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