共 114 条
The role of the Fanconi anemia pathway in DNA repair and maintenance of genome stability
被引:5
作者:

Koczorowska, Aleksandra M.
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Uniwersytet Mikolaja Kopernika Toruniu, Katedra & Zaklad Genet Mol Komorki, Collegium Med L Rydygiera Bydgoszczy, Torun 85094, Poland Uniwersytet Mikolaja Kopernika Toruniu, Katedra & Zaklad Genet Mol Komorki, Collegium Med L Rydygiera Bydgoszczy, Torun 85094, Poland

Bialkowska, Aneta
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Uniwersytet Mikolaja Kopernika Toruniu, Katedra & Zaklad Genet Mol Komorki, Collegium Med L Rydygiera Bydgoszczy, Torun 85094, Poland Uniwersytet Mikolaja Kopernika Toruniu, Katedra & Zaklad Genet Mol Komorki, Collegium Med L Rydygiera Bydgoszczy, Torun 85094, Poland

Kluzek, Katarzyna
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Uniwersytet Mikolaja Kopernika Toruniu, Katedra & Zaklad Genet Mol Komorki, Collegium Med L Rydygiera Bydgoszczy, Torun 85094, Poland Uniwersytet Mikolaja Kopernika Toruniu, Katedra & Zaklad Genet Mol Komorki, Collegium Med L Rydygiera Bydgoszczy, Torun 85094, Poland

Zdzienicka, Malgorzata Z.
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Uniwersytet Mikolaja Kopernika Toruniu, Katedra & Zaklad Genet Mol Komorki, Collegium Med L Rydygiera Bydgoszczy, Torun 85094, Poland Uniwersytet Mikolaja Kopernika Toruniu, Katedra & Zaklad Genet Mol Komorki, Collegium Med L Rydygiera Bydgoszczy, Torun 85094, Poland
机构:
[1] Uniwersytet Mikolaja Kopernika Toruniu, Katedra & Zaklad Genet Mol Komorki, Collegium Med L Rydygiera Bydgoszczy, Torun 85094, Poland
来源:
POSTEPY HIGIENY I MEDYCYNY DOSWIADCZALNEJ
|
2014年
/
68卷
关键词:
Fanconi anemia;
homologous recombination;
DNA interstrand crosslink repair;
genome stability;
CROSS-LINK REPAIR;
DOUBLE-STRAND BREAKS;
NUCLEOTIDE EXCISION-REPAIR;
CORE-COMPLEX PROTEIN;
HOMOLOGOUS RECOMBINATION;
MONOUBIQUITINATED FANCD2;
MOLECULAR-MECHANISMS;
BIALLELIC MUTATIONS;
POSITIONAL CLONING;
DAMAGE RESPONSE;
D O I:
10.5604/17322693.1101567
中图分类号:
R-3 [医学研究方法];
R3 [基础医学];
学科分类号:
1001 ;
摘要:
The Fanconi anemia (FA) pathway is one of the DNA repair systems involved in removal of DNA crosslinks. Proteins which belong to this pathway are crucial to the protection of genetic information, whereas disturbances in their function have serious implications for the whole organism. Biallelic mutations in FA genes are the cause of Fanconi anemia - a genetic disease which manifests itself through numerous congenital abnormalities, chromosomal instability and increased predisposition to cancer. The FA pathway is composed of fifteen proteins. Eight of them, in the presence of DNA interstrand crosslinks (ICLs), form a nuclear core complex responsible for monoubiquitination of FANCD2 and FANCI, which is a key step of ICL repair. FA proteins which are not involved in the monoubiquitination step participate in repair of DNA double strand breaks via homologous recombination. Some of the FA proteins, besides having a direct role in the repair of DNA damage, are engaged in replication, cell cycle control and mitosis. The unperturbed course of those processes determines the maintenance of genome stability.
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收藏
页码:459 / 472
页数:14
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Charite, Inst Human Genet, D-13353 Berlin, Germany Childrens Mem Hlth Inst, Dept Med Genet, PL-04730 Warsaw, Poland

Chrzanowska, Krystyna H.
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机构:
Childrens Mem Hlth Inst, Dept Med Genet, PL-04730 Warsaw, Poland Childrens Mem Hlth Inst, Dept Med Genet, PL-04730 Warsaw, Poland
[10]
A homologous recombination defect affects replication-fork progression in mammalian cells
[J].
Daboussi, Fayza
;
Courbet, Sylvain
;
Benhamou, Simone
;
Kannouche, Patricia
;
Zdzienicka, Malgorzata Z.
;
Debatisse, Michelle
;
Lopez, Bernard S.
.
JOURNAL OF CELL SCIENCE,
2008, 121 (02)
:162-166

Daboussi, Fayza
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Inst Radiobiol Cellulaire & Mol, CNRS, UMR 217, F-92265 Fontenay Aux Roses, France Inst Radiobiol Cellulaire & Mol, CNRS, UMR 217, F-92265 Fontenay Aux Roses, France

Courbet, Sylvain
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Inst Curie, CNRS, UMR 7147, F-75248 Paris 05, France Inst Radiobiol Cellulaire & Mol, CNRS, UMR 217, F-92265 Fontenay Aux Roses, France

Benhamou, Simone
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Inst Gustave Roussy, FRE 2939, F-94800 Villejuif, France Inst Radiobiol Cellulaire & Mol, CNRS, UMR 217, F-92265 Fontenay Aux Roses, France

Kannouche, Patricia
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Inst Gustave Roussy, FRE 2939, F-94800 Villejuif, France Inst Radiobiol Cellulaire & Mol, CNRS, UMR 217, F-92265 Fontenay Aux Roses, France

Zdzienicka, Malgorzata Z.
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Nicholas Copernicus Univ Torun, Dept Mol Cell Genet, PL-85094 Bydgoszcz, Poland Inst Radiobiol Cellulaire & Mol, CNRS, UMR 217, F-92265 Fontenay Aux Roses, France

Debatisse, Michelle
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Inst Curie, CNRS, UMR 7147, F-75248 Paris 05, France Inst Radiobiol Cellulaire & Mol, CNRS, UMR 217, F-92265 Fontenay Aux Roses, France

Lopez, Bernard S.
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机构:
Inst Radiobiol Cellulaire & Mol, CNRS, UMR 217, F-92265 Fontenay Aux Roses, France Inst Radiobiol Cellulaire & Mol, CNRS, UMR 217, F-92265 Fontenay Aux Roses, France