FANCJ：解决 DNA 复制中的问题。
FANCJ: solving problems in DNA replication.
机构信息
Biomedical Research Institute, Ninewells Hospital & Medical School, University of Dundee, DD1 9SY, Scotland, UK.
出版信息
DNA Repair (Amst). 2010 Mar 2;9(3):250-6. doi: 10.1016/j.dnarep.2010.01.005. Epub 2010 Feb 1.
The FANCJ protein (also known as BACH1 and BRIP1) is a DNA helicase that is required to preserve the genetic and structural integrity of the genome in complex eukaryotes. In humans, mutations in FANCJ are associated with the chromosome instability disorder Fanconi's anemia and also with the inherited predisposition early-onset breast cancer. Here I will discuss the contribution of FANCJ to human disease, its role in maintenance of genome stability and some current thoughts on the mechanisms through which this is achieved.
FANCJ 蛋白（也称为 BACH1 和 BRIP1）是一种 DNA 解旋酶，对于复杂真核生物中基因组的遗传和结构完整性的维持是必需的。在人类中，FANCJ 的突变与染色体不稳定性疾病范可尼贫血症有关，也与早发性乳腺癌的遗传易感性有关。在这里，我将讨论 FANCJ 对人类疾病的贡献、它在维持基因组稳定性方面的作用，以及目前关于实现这一目标的机制的一些想法。
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