在心脏组织表达的一个人类新基因  

A Novel Human Gene Expressed in Heart

作　　者：黄欣琼[1] 唐显庆[1] 张晓红[1] 石金凤[1] 李美香[1] 吴秀山[2] 

机构地区：[1]南华大学医学院组胚教研室,衡阳421001 [2]湖南师范大学生命科学院蛋白质化学与发育生物学教育部重点实验室/心脏发育研究中心

出　　处：《中国实用医药》2009年第15期1-2,共2页China Practical Medicine

基　　金：国家自然科学基金/湖南省教育厅(项目编号:30270684)

摘　　要：KRAB/C2H2型锌指蛋白是一类具有重要功能的转录调节因子。初步克隆了一个新的人类KRAB/C2H2型锌指蛋白基因,经国际基因命名委员会批准命名为ZNF569。此基因在基因组DNA上长约56.28 kb。定位于19q13.12.ORF全长2061个碱基,含6个外显子,5个内含子,编码一个长686个氨基酸残基的蛋白质。该蛋白包含一个KRAB结构域和18个锌指结构域。Northern杂交结果表明,ZNF382 mRNA在早期胚胎时期就开始表达,在不同时期人类胚胎组织中广泛表达,包括脑,心脏,肝和骨骼肌。在成人组织中重点表达在心脏,在肝,胰和骨骼肌中也有表达,其结构和表达特征预示着ZNF569在心脏发育和功能的发挥起着潜在的作用。KRAB/C2H2type zinc finger protein is a transcription factor with important function. We cloned a novel human KRAB/C2 H2 type zinc finger gene and named ZNF569 as approved by HUGO nomenclature committee. The full length of ZNF569is 2061bp with 6 exons and 5 introns, which spans approximately 56.28 kb long in genomics. It includes 686 amino acids containing a KRAB domain at the NH2 terminus and 18 tandemly repeated Krnppel-type C2 H2 zinc finger domains（ZF） at the COOH terminus. Northern blot analysis indicates that a 2. 9kb transcript specific for ZNF382 is expressed at very early embryonic stage of human（ at least earlier than gestation 25 week）. ZNF569 is widely expressed in human embryo tissues, including brain, lung, heart, skeletal muscle, and adrenal. At the adult stage, ZNF569 expression is mainly largely to heart tissue suggesting a potential role in heart development and function.

关 键 词：ZNF569 心脏发育 KRAB/C2H2 克隆 表达 

分 类 号：R541[医药卫生—心血管疾病]