编码人磷酸甘油酸变位酶肌肉特异性亚基的基因结构。
Structure of the gene encoding the muscle-specific subunit of human phosphoglycerate mutase.
作者信息
Tsujino S, Sakoda S, Mizuno R, Kobayashi T, Suzuki T, Kishimoto S, Shanske S, DiMauro S, Schon E A
机构信息
Third Department of Internal Medicine, Osaka University Hospital, Japan.
出版信息
J Biol Chem. 1989 Sep 15;264(26):15334-7.
We report the isolation and analysis of genomic clones containing the entire gene encoding the muscle-specific subunit of human phosphoglycerate mutase. The gene spans 2.83 kilobase pairs and has a three-exon/two-intron structure that is similar to the organization of the human 2,3-bisphosphoglycerate mutase gene (Joulin, V., Garel, M.-C., LeBoulch, P., Valentin, C., Rosa, R., Rosa, J., and Cohen-Solal, M. (1988) J. Biol. Chem. 263, 15785-15790), in that the second introns of both genes are localized precisely at the same position. A canonical TATA box and an inverted CCAAT box are present immediately upstream of this gene. Comparison with other muscle-specific enzyme genes reveals a conserved 9-base pair element (GGGGCTGGG) in the 5'-flanking region that may be associated with the expression of genes encoding muscle-specific enzymes.
我们报道了包含编码人磷酸甘油酸变位酶肌肉特异性亚基的完整基因的基因组克隆的分离与分析。该基因跨度为2.83千碱基对，具有三外显子/二内含子结构，这与人类2,3-二磷酸甘油酸变位酶基因的结构相似（朱兰，V.，加雷尔，M.-C.，勒布尔什，P.，瓦伦丁，C.，罗萨，R.，罗萨，J.，以及科恩-索拉尔，M.（1988年）《生物化学杂志》263卷，15785 - 15790页），即两个基因的第二个内含子都精确地定位在同一位置。在该基因紧邻上游处存在一个典型的TATA盒和一个反向CCAAT盒。与其他肌肉特异性酶基因的比较揭示，在5'侧翼区域存在一个保守的9碱基对元件（GGGGCTGGG），其可能与编码肌肉特异性酶的基因的表达相关。
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