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范可尼贫血蛋白FANCG与BRCA2/FANCD1的直接相互作用。

Direct interaction of the Fanconi anaemia protein FANCG with BRCA2/FANCD1.

作者信息

Hussain Shobbir, Witt Emily, Huber Pia A J, Medhurst Annette L, Ashworth Alan, Mathew Christopher G

机构信息

Division of Genetics and Development, Guy's, King's and St Thomas' School of Medicine, King's College London, UK.

出版信息

Hum Mol Genet. 2003 Oct 1;12(19):2503-10. doi: 10.1093/hmg/ddg266. Epub 2003 Aug 5.

Abstract

Fanconi anaemia (FA) is an autosomal recessive genetic disorder characterized by progressive bone marrow failure, multiple congenital abnormalities, and an increased risk of cancer. FA cells are characterized by chromosomal instability and hypersensitivity to DNA interstrand crosslinking agents. At least eight complementation groups exist (FA-A to G), and the genes for all of these except FA-B have been cloned. Functional linkage between the FA pathway and genes involved in susceptibility to breast cancer has been demonstrated by the interaction of the FANCA and FANCD2 proteins with BRCA1, and the discovery that the FANCD1 gene is identical to BRCA2. Here we have used the yeast two-hybrid system to test for direct interaction between BRCA2 or its effector RAD51 and the FANCA, FANCC and FANCG proteins. We found that FANCG was capable of binding to two separate sites in the BRCA2 protein, located either side of the BRC repeats. Furthermore, FANCG could be co-immunoprecipitated with BRCA2 from human cells, and FANCG co-localized in nuclear foci with both BRCA2 and RAD51 following DNA damage with mitomycin C. These results demonstrate that BRCA2 is directly connected to a pathway that is deficient in interstrand crosslink repair, and that at least one other FA protein is closely associated with the homologous recombination DNA repair machinery.

摘要

范可尼贫血(FA)是一种常染色体隐性遗传疾病,其特征为进行性骨髓衰竭、多种先天性异常以及患癌风险增加。FA细胞的特征是染色体不稳定以及对DNA链间交联剂高度敏感。至少存在八个互补组(FA-A至G),除FA-B外,所有这些互补组的基因均已被克隆。FANCA和FANCD2蛋白与BRCA1的相互作用,以及FANCD1基因与BRCA2相同这一发现,证明了FA通路与乳腺癌易感性相关基因之间的功能联系。在此,我们利用酵母双杂交系统来检测BRCA2或其效应因子RAD51与FANCA、FANCC和FANCG蛋白之间是否存在直接相互作用。我们发现FANCG能够结合到BRCA2蛋白中位于BRC重复序列两侧的两个不同位点。此外,FANCG可与人细胞中的BRCA2进行共免疫沉淀,在用丝裂霉素C造成DNA损伤后,FANCG与BRCA2和RAD51共定位于核灶中。这些结果表明,BRCA2直接连接到一个链间交联修复缺陷的通路,并且至少一种其他FA蛋白与同源重组DNA修复机制密切相关。

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