EMSY位于染色体11q13,编码约1 322个氨基酸,其N末端有保守的ENT结构域,此结构域可与BRCA2的第3外显子结合并抑制BRCA2的转录活性,自2003年首次报道以来,以EMSY与BRCA2相互作用为基础,EMSY的功能研究不断展开,研究发现EMSY与BRCA2的相互作用可能可以弥补BRCA2在散发性乳腺癌中作用机制的空白,同时EMSY可能与DNA的损伤修复及基因组的稳定性相关,其次,EMSY可能是染色体11q13扩增子的主要候选基因.此外,临床研究显示13%的散发性乳腺癌伴有EMSY扩增,并且在某些亚组中,EMSY扩增患者无病生存较差,提示其可能成为临床预后的一个预测指标.尽管关于EMSY的研究结果尚存在争议,不过作为一种新发现的蛋白,EMSY对散发性乳腺癌发生发展的影响有重要的研究价值.以EMSY与BRCA2相互作用为切入点,结合近年来EMSY的研究结果,对EMSY的结构功能作一简单介绍.%EMSY is located on chromosome 11q13, encoding about 1 322 amino acids. The N-terminal domain of EMSY harbors a conservative ENT domain, which can bind to BRCA2 at the site of exon3 and consequently inhibit the transcriptional activity of BRCA2. Since EMSY was first reported in 2003, the study of it's function has been expanded on the basis of the interaction between EMSY and BRCA2. Many studies have demonstrated that such interaction may compensate the blank of BRCA2 role in sporadic breast cancer, and that EMSY may be related to DNA damage repair and genomic instability. Furthermore, EMSY may act as a key candidate gene for chromosome 11q13 amplification. Clinical studies have shown that EMSY is amplified in 13% of sporadic breast cancer. In some subgroups, patients with EMSY amplification have poor disease-free survival, suggesting that it may be a predictor for clinical outcome. Although controversial results still exist, as a newly discovered protein, EMSY may be an important protein in different aspects for the development of sporadic breast cancer. In this paper, we analyzed the interaction of EMSY and BRCA2 as the break through point from recent findings, so as to draw a brief introduction about the structure and function of EMSY.
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