Chromosomal breakage syndromes

被引：28

作者：

Carney, JP ^{[1
]}

机构：

[1] Univ Maryland, Sch Med, Radiat Oncol Res Lab, Baltimore, MD 21210 USA

来源：

CURRENT OPINION IN IMMUNOLOGY | 1999年 / 11卷 / 04期

关键词：

D O I：

10.1016/S0952-7915(99)80074-0

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Immune deficiency and chromosome fragility are hallmarks of two human diseases, ataxia telangiectasia and Nijmegen breakage syndrome. The genes mutated in these diseases, ATM and NBS1, have been cloned and there has been considerable recent progress on deciphering the function of the protein products implicated in these disorders and how their absence in the disease states relates to the immunodeficiency and chromosome fragility observed. The function of the two protein products, Atm and Nibrin, in effecting DNA repair and cell cycle checkpoints in response to genomic insult provides a framework for understanding the cellular response to DNA damage.

引用

页码：443 / 447

页数：5

共 47 条

[1] Enhanced phosphorylation of p53 by ATN in response to DNA damage [J].

Banin, S ;

Moyal, L ;

Shieh, SY ;

Taya, Y ;

Anderson, CW ;

Chessa, L ;

Smorodinsky, NI ;

Prives, C ;

Reiss, Y ;

Shiloh, Y ;

Ziv, Y .

SCIENCE, 1998, 281 (5383) :1674-1677

[2]

Barlow C, 1998, DEVELOPMENT, V125, P4007

[3] Atm haploinsufficiency results in increased sensitivity to sublethal doses of ionizing radiation in mice [J].

Barlow, C ;

Eckhaus, MA ;

Schäffer, AA ;

Wynshaw-Boris, A .

NATURE GENETICS, 1999, 21 (04) :359-360

[4] A superfamily of conserved domains in DNA damage responsive cell cycle checkpoint proteins [J].

Bork, P ;

Hofmann, K ;

Bucher, P ;

Neuwald, AF ;

Altschul, SF ;

Koonin, EV .

FASEB JOURNAL, 1997, 11 (01) :68-76

[5] From BRCA1 to RAP1: A widespread BRCT module closely associated with DNA repair [J].

Callebaut, I ;

Mornon, JP .

FEBS LETTERS, 1997, 400 (01) :25-30

[6] Activation of the ATM kinase by ionizing radiation and phosphorylation of p53 [J].

Canman, CE ;

Lim, DS ;

Cimprich, KA ;

Taya, Y ;

Tamai, K ;

Sakaguchi, K ;

Appella, E ;

Kastan, MB ;

Siliciano, JD .

SCIENCE, 1998, 281 (5383) :1677-1679

[7] The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: Linkage of double-strand break repair to the cellular DNA damage response [J].

Carney, JP ;

Maser, RS ;

Olivares, H ;

Davis, EM ;

Le Beau, M ;

Yates, JR ;

Hays, L ;

Morgan, WF ;

Petrini, JHJ .

CELL, 1998, 93 (03) :477-486

[8] The sbcC and sbcD genes of Escherichia coli encode a nuclease involved in palindrome inviability and genetic recombination [J].

Connelly, JC ;

Leach, DRF .

GENES TO CELLS, 1996, 1 (03) :285-291

[9] Cell cycle checkpoints: Preventing an identity crisis [J].

Elledge, SJ .

SCIENCE, 1996, 274 (5293) :1664-1672

[10] Pleiotropic defects in ataxia-telangiectasia protein-deficient mice [J].

Elson, A ;

Wang, YQ ;

Daugherty, CJ ;

Morton, CC ;

Zhou, F ;

CamposTorres, J ;

Leder, P .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1996, 93 (23) :13084-13089

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