BLM, the Bloom's syndrome protein, varies during the cell cycle in its amount, distribution, and co-localization with other nuclear proteins

被引:49
作者
Sanz, MM
Proytcheva, M
Ellis, NA
Holloman, WK
German, J
机构
[1] Cornell Univ, Weill Med Coll, Dept Pediat, Lab Human Genet, New York, NY 10021 USA
[2] Cornell Univ, Weill Med Coll, Dept Microbiol, New York, NY 10021 USA
[3] Montefiore Med Ctr, Albert Einstein Coll Med, Dept Pathol, Bronx, NY 10467 USA
[4] Mem Sloan Kettering Canc Ctr, Dept Human Genet, Lab Canc Susceptibil, New York, NY 10021 USA
来源
CYTOGENETICS AND CELL GENETICS | 2000年 / 91卷 / 1-4期
关键词
D O I
10.1159/000056848
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
BLM, the protein encoded by the gene mutated in Bloom's syndrome (BS), is a phylogenetically highly conserved DNA helicase that varies in amount and distribution in the nucleus during the cell-division cycle. It is undetectable in many cells as they emerge from mitosis but becomes abundant during G(1) and remains so throughout S, G(2), and mitosis. BLM is widely distributed throughout the nucleus but at certain times also becomes concentrated in foci that vary in number and size. It co-localizes transitorily with replication protein A (RPA) and promyelocytic leukemia protein (PML) nuclear bodies, and at times it enters the nucleolus. The observations support the hypothesis that BLM is distributed variously about the nucleus to manipulate DNA in some, very possibly several, nucleic acid transactions, when and where they take place. The specific transaction(s) remain to be identified. Although absence from the nucleus of functional BLM - the situation in BS - obviously is not lethal in the human, other helicases would appear to be unable to substitute for it completely, witness the hypermutability and hyperrecombinability of BS cells. Copyright (C) 2001 S. Karger AG, Basel.
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页码:217 / 223
页数:7
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