Germline mutation rates at tandem repeat loci in DNA-repair deficient mice

被引:39
作者
Barber, RC
Miccoli, L
van Buul, PPW
Burr, KLA
van Duyn-Goedhart, A
Angulo, JF
Dubrova, YE
机构
[1] Univ Leicester, Dept Genet, Leicester LE1 7RH, Leics, England
[2] CEA, Lab Genet Radiosensibil, Dept Radiobiol & Radiopathol, Direct Sci Vivant, F-92265 Fontenay Aux Roses, France
[3] Leiden Univ, Ctr Med, Sylvius Lab, Dept Toxicogenet, NL-2333 Leiden, Netherlands
基金
英国惠康基金;
关键词
expanded simple tandem repeat loci; germline mutation; DNA repair; knock-out mouse; ionising radiation;
D O I
10.1016/j.mrfmmm.2004.05.003
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
Mutation rates at two expanded simple tandem repeat (ESTR) loci were studied in the germline of non-exposed and irradiated severe combined immunodeficient (scid) and poly(ADP-ribose) polymerase (PARP-1(-/-)) deficient male mice. Non-exposed scid and PARP(-/-) male mice showed considerably elevated ESTR mutation rates, far higher than those in wild-type isogenic mice and other inbred strains. The irradiated scid and PARP-1(-/-) male mice did not show any detectable increases in their mutation rate, whereas significant ESTR mutation induction was observed in the irradiated wild-type isogenic males. ESTR mutation spectra in the scid and PARP-1(-/-) strains did not differ from those in the isogenic wild-type strains. Considering these data and the results of previous studies, we propose that a delay in repair of DNA damage in scid and PARP-1(-/-) mice could result in replication fork pausing which, in turn, may affect ESTR mutation rate in the non-irradiated males. The lack of mutation induction in irradiated scid and PARP-1(-/-) can be explained by the high cell killing effects of irradiation on the,germline of deficient mice. (C) 2004 Elsevier B.V. All rights reserved.
引用
收藏
页码:287 / 295
页数:9
相关论文
共 41 条
[1]   DNA-dependent protein kinase suppresses double-strand break-induced and spontaneous homologous recombination [J].
Allen, C ;
Kurimasa, A ;
Brenneman, MA ;
Chen, DJ ;
Nickoloff, JA .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2002, 99 (06) :3758-3763
[2]   Elevated mutation rates in the germ line of first- and second-generation offspring of irradiated male mice [J].
Barber, R ;
Plumb, MA ;
Boulton, E ;
Roux, I ;
Dubrova, YE .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2002, 99 (10) :6877-6882
[3]   No correlation between germline mutation at repeat DNA and meiotic crossover in male mice exposed to X-rays or cisplatin [J].
Barber, R ;
Plumb, M ;
Smith, AG ;
Cesar, CE ;
Boulton, E ;
Jeffreys, AJ ;
Dubrova, YE .
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS, 2000, 457 (1-2) :79-91
[4]   SCID MUTATION IN MICE CONFERS HYPERSENSITIVITY TO IONIZING-RADIATION AND A DEFICIENCY IN DNA DOUBLE-STRAND BREAK REPAIR [J].
BIEDERMANN, KA ;
SUN, JR ;
GIACCIA, AJ ;
TOSTO, LM ;
BROWN, JM .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (04) :1394-1397
[5]   Identification of a nonsense mutation in the carboxyl-terminal region of DNA-dependent protein kinase catalytic subunit in the scid mouse [J].
Blunt, T ;
Gell, D ;
Fox, M ;
Taccioli, GE ;
Lehmann, AR ;
Jackson, SP ;
Jeggo, PA .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1996, 93 (19) :10285-10290
[6]   A novel unstable mouse VNTR family expanded from SINE B1 elements [J].
Bois, P ;
Williamson, J ;
Brown, J ;
Dubrova, YE ;
Jeffreys, AJ .
GENOMICS, 1998, 49 (01) :122-128
[7]   Length of uninterrupted repeats determines instability at the unstable mouse expanded simple tandem repeat family MMS10 derived from independent SINE B1 elements [J].
Bois, PRJ ;
Southgate, L ;
Jeffreys, AJ .
MAMMALIAN GENOME, 2001, 12 (02) :104-111
[8]   Requirement of poly(ADP-ribose) polymerase in recovery from DNA damage in mice and in cells [J].
deMurcia, JM ;
Niedergang, C ;
Trucco, C ;
Ricoul, M ;
Dutrillaux, B ;
Mark, M ;
Oliver, FJ ;
Masson, M ;
Dierich, A ;
LeMeur, M ;
Walztinger, C ;
Chambon, P ;
deMurcia, G .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1997, 94 (14) :7303-7307
[9]  
DING RC, 1992, J BIOL CHEM, V267, P12804
[10]   Induction of minisatellite mutations in the mouse germline by low-dose chronic exposure to γ-radiation and fission neutrons [J].
Dubrova, YE ;
Plumb, M ;
Brown, J ;
Boulton, E ;
Goodhead, D ;
Jeffreys, AJ .
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS, 2000, 453 (01) :17-24