EYA基因家族的研究进展  

Advances in research on EYA gene family

作　　者：袁斌[1] 曾敏[2] 李熔[3] 叶棋浓[1] 

机构地区：[1]军事医学科学院生物工程研究所,北京100850 [2]军事医学科学院附属医院,北京100071 [3]美国弗吉尼亚大学生化和分子遗传系,弗吉尼亚22908

出　　处：《军事医学科学院院刊》2007年第1期87-90,共4页Bulletin of the Academy of Military Medical Sciences

基　　金：国家自然科学基金资助(30428012;30530320;30370738)

摘　　要：EYA(eyes absent)是一个进化上保守的基因家族,其C端为编码271个氨基酸的EYA结构域。EYA蛋白作为重要的转录调控因子,直接参与胚胎发育过程中的细胞增殖、组织分化和器官发育。EYA基因发生突变或表达异常将导致鳃-耳-肾综合征、鳃裂-耳综合征等遗传病和一些恶性肿瘤(如卵巢癌、结肠癌、食管癌)的发生。本文就EYA基因的结构、生物学功能、组织分布及其与重大疾病的关系作一综述。EYA（ eyes absent） belongs to an evolutionary conservative gene family. A highly conserved 271-amino acid C-terminal region called EYA domain was found in the products of human EYA family members. EYA was thought to function as a transcriptional regulatory factor that plays an important role in cell proliferation, tissue differentiation and embryonic development. The gene mutation or abnormal expression of EYA can cause several kinds of heredity syndromes and malignant tumors. This review focuses on EYA gene structure, biological effects, tissue distribution as well as the relationship between EYA and serious diseases.

关 键 词：EYA基因 转录因子 突变 肿瘤 

分 类 号：Q344[生物学—遗传学]