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PMID: 16676573 已发表 · ppublish pol

[Complex role of the FA proteins in providing genome stability].

Postepy biochemii ·第 51 卷 ·第 4 期 ·2006-06-01

Kluzek Katarzyna, Zdzienicka Małgorzata Z

摘要

FA is a rare genetic disorder characterized by developmental abnormalities, bone marrow failure and cancer susceptibility. Cells that are derived from patients with FA display spontaneous chromosomal instability and hypersensitivity to DNA crosslinking agents that is used in FA clinical diagnostics. FA is genetically heterogeneous and caused by mutations in at least 11 distinct genes, FANCA, FANCA, B, C, D1, D2, E, F, G, I, J and L. FA proteins interact with various proteins involved in DNA damage response and cell cycle checkpoint regulation, such as: RAD51, BRCA1, BRCA2, ATM or NBS1. Moreover, BRCA2 that plays a crucial role in homologous recombination is one of FA proteins. Collectively, all these data indicate, that the FA pathway is involved in different molecular processes that prevent DNA and control genomic stability, although its precise role still remains undefined.

文献信息
期刊
Postepy biochemii
期刊简称
Postepy Biochem
ISSN
0032-5422
发表日期
2006-06-01
收录日期
2006-05-08
更新日期
2006-11-15
语言
pol
国家/地区
Poland
NLM ID
0023525
外部链接
PubMed 原文
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