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BRCA1基因定位于人染色体 1 7q1 2 2 1 ,编码蛋白含有 1 86 3个氨基酸残基。BRCA1蛋白具有许多与其他蛋白相互作用的位点 ,通过蛋白之间的相互作用来发挥其重要的生物学功能 ,包括细胞周期调控 ,DNA损伤修复 ,基因的转录调节 ,细胞凋亡和泛素化等。BRCA1基因的突变与家族性乳腺癌及卵巢癌的发生密切相关 ,对BRCA1分子功能尤其是DNA损伤修复和转录调节的研究 ,将有利于阐明肿瘤发生的机理。因此本文就BRCA1的结构及其在DNA损伤修复和转录调节方面的研究进展做一综述。
The BRCA1 gene is located on human chromosome 1 7q1 2 2 1, and encodes a protein containing 1 863 amino acid residues. The BRCA1 protein has many interacting sites with other proteins that exert important biological functions through protein-protein interactions, including cell cycle regulation, DNA damage repair, gene transcription regulation, apoptosis and ubiquitination Wait. The mutation of BRCA1 gene is closely related to the occurrence of familial breast cancer and ovarian cancer. The research of BRCA1 molecular function, especially DNA damage repair and transcriptional regulation, will be helpful to elucidate the mechanism of tumorigenesis. Therefore, this review summarizes the structure of BRCA1 and its progress in DNA damage repair and transcription regulation.