Gupta M, Zak R, Libermann T A, Gupta M P
The Heart Institute for Children, Hope Children's Hospital, Oak Lawn, Illinois 60453, USA.
Mol Cell Biol. 1998 Dec;18(12):7243-58. doi: 10.1128/MCB.18.12.7243.
The expression of the alpha-myosin heavy chain (MHC) gene is restricted primarily to cardiac myocytes. To date, several positive regulatory elements and their binding factors involved in alpha-MHC gene regulation have been identified; however, the mechanism restricting the expression of this gene to cardiac myocytes has yet to be elucidated. In this study, we have identified by using sequential deletion mutants of the rat cardiac alpha-MHC gene a 30-bp purine-rich negative regulatory (PNR) element located in the first intronic region that appeared to be essential for the tissue-specific expression of the alpha-MHC gene. Removal of this element alone elevated (20- to 30-fold) the expression of the alpha-MHC gene in cardiac myocyte cultures and in heart muscle directly injected with plasmid DNA. Surprisingly, this deletion also allowed a significant expression of the alpha-MHC gene in HeLa and other nonmuscle cells, where it is normally inactive. The PNR element required upstream sequences of the alpha-MHC gene for negative gene regulation. By DNase I footprint analysis of the PNR element, a palindrome of two high-affinity Ets-binding sites (CTTCCCTGGAAG) was identified. Furthermore, by analyses of site-specific base-pair mutation, mobility gel shift competition, and UV cross-linking, two different Ets-like proteins from cardiac and HeLa cell nuclear extracts were found to bind to the PNR motif. Moreover, the activity of the PNR-binding factor was found to be increased two- to threefold in adult rat hearts subjected to pressure overload hypertrophy, where the alpha-MHC gene is usually suppressed. These data demonstrate that the PNR element plays a dual role, both downregulating the expression of the alpha-MHC gene in cardiac myocytes and silencing the muscle gene activity in nonmuscle cells. Similar palindromic Ets-binding motifs are found conserved in the alpha-MHC genes from different species and in other cardiac myocyte-restricted genes. These results are the first to reveal a role of the Ets class of proteins in controlling the tissue-specific expression of a cardiac muscle gene.
α-肌球蛋白重链(MHC)基因的表达主要局限于心肌细胞。迄今为止,已鉴定出几种参与α-MHC基因调控的正调控元件及其结合因子;然而,将该基因的表达限制在心肌细胞中的机制尚未阐明。在本研究中,我们通过使用大鼠心脏α-MHC基因的连续缺失突变体,在第一个内含子区域鉴定出一个30bp富含嘌呤的负调控(PNR)元件,该元件似乎对α-MHC基因的组织特异性表达至关重要。单独去除该元件可使心肌细胞培养物和直接注射质粒DNA的心肌中α-MHC基因的表达提高(20至30倍)。令人惊讶的是,这种缺失还使α-MHC基因在HeLa细胞和其他非肌肉细胞中显著表达,而在这些细胞中该基因通常是无活性的。PNR元件需要α-MHC基因的上游序列进行负基因调控。通过对PNR元件的DNase I足迹分析,鉴定出两个高亲和力Ets结合位点(CTTCCCTGGAAG)的回文结构。此外,通过位点特异性碱基对突变分析、迁移凝胶迁移竞争分析和紫外线交联分析,发现来自心肌和HeLa细胞核提取物的两种不同的Ets样蛋白与PNR基序结合。此外,在压力超负荷肥大的成年大鼠心脏中,PNR结合因子的活性增加了两到三倍,而在这种情况下α-MHC基因通常被抑制。这些数据表明,PNR元件发挥双重作用,既下调心肌细胞中α-MHC基因的表达,又使非肌肉细胞中的肌肉基因活性沉默。在不同物种的α-MHC基因和其他心肌细胞特异性基因中发现了类似的回文Ets结合基序。这些结果首次揭示了Ets类蛋白在控制心肌基因组织特异性表达中的作用。