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Genomic instability and cancer: lessons from analysis of Bloom's syndrome
被引:28
作者:
Payne, Miranda
[1
]
Hickson, Ian D.
[1
]
机构:
[1] Univ Oxford, John Radcliffe Hosp, Weatherall Inst Mol Med, Oxford OX3 9DS, England
关键词:
anaphase bridge;
Bloom's syndrome;
Bloom's syndrome protein (BLM);
fragile site;
Holliday junction dissolution;
RecQ helicase;
TOPOISOMERASE-III-ALPHA;
STALLED REPLICATION FORKS;
STRAND BREAK REPAIR;
HOLLIDAY JUNCTION DISSOLVASOME;
SYNDROME GENE-PRODUCT;
SYNDROME HELICASE;
HOMOLOGOUS RECOMBINATION;
SYNDROME PROTEIN;
RECQ HELICASES;
ESSENTIAL COMPONENT;
D O I:
10.1042/BST0370553
中图分类号:
Q5 [生物化学];
Q7 [分子生物学];
学科分类号:
071010 ;
081704 ;
摘要:
Bloom's syndrome (BS) is a rare autosomal recessive disorder characterized by genomic instability and cancer predisposition. The underlying genetic defect is mutation of the BLM gene, producing deficiency in the RecQ helicase BLM (Bloom's syndrome protein). The present article begins by introducing BLM and its binding partners before reviewing its known biochemical activities and its potential roles both as a pro-recombinase and as a suppressor of homologous recombination. Finally, the evidence for an emerging role in mitotic chromosome segregation is examined.
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页码:553 / 559
页数:7
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