在心脏组织表达的一个人类新基因  

A Novel Human Gene Expressed in Heart

作　　者：罗开梅[1] 王跃群[1] 皮花亮[1] 袁婺洲[1] 李大力[1] 吴秀山[1] 

机构地区：[1]湖南师范大学生命科学学院遗传与发育生物学系,中国长沙410081

出　　处：《湖南师范大学自然科学学报》2003年第2期79-83,共5页Journal of Natural Science of Hunan Normal University

基　　金：国家自然科学基金资助项目(30170479)

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ZNF382.此基因长2824bp,含5个外显子,4个内含子,在基因组DNA上长约23kb.它编码548个氨基酸,在氮末端含一个KRAB框,碳末端含一个未成形的锌指(VZF)和9个锌指(ZF).Northern杂交结果表明,ZNF382mRNA在早期胚胎时期(至少在妊娠34d之前)就开始表达,在不同时期人类胚胎组织中广泛表达,包括小脑、肾、大脑、肺、心脏、骨骼肌、舌和肾上腺.在成人组织其表达限制在心脏,其结构和表达特征预示着ZNF382在心脏发育和功能的发挥起着潜在的作用.KRAB/C2H2-type zinc finger protein is a transcription factor with important function. We cloned a novel human KRAB/C2 H2-type zinc finger gene and named ZNF382 as approved by HUGO nomenclature committee. The full length of ZNF382 is 2 824 bp with 5 exons and 4 introns, which spans approximately 23 kb long in genomics. It encodes 548 amino acids containing a KRAB domain at the NH2 terminus and a vestigial zinc finger (VZF) and 9 tandemly repeated Kruppel-type C2 H2 zinc finger domains (ZF) at the COOH terminus. Northern blot analysis indicates that a 2.9 kb transcript specific for ZNF382 is expressed at very early embryonic stage of human (at least earlier than gestation 34 day). ZNF382 is widely expressed in human embryo tissues, including brain, kidney, lung, heart, skeletal muscle, and adrenal. At the adult stage, ZNF382 expression is restricted largely to heart tissue suggesting a potential role in heart development and function.

关 键 词：人类基因组 KRAB/C2H2型锌指蛋白 人类胚胎组织 基因表达 基因克隆 心脏发育 

分 类 号：Q987[生物学—遗传学]