Center for Biological Resources and Informatics, Tokyo Institute of Technology, Yokohama, 226-8501, Japan.
Biomaterial Analysis Division, Technical Department, Tokyo Institute of Technology, Yokohama, 226-8501, Japan.
Sci Rep. 2021 Jan 12;11(1):510. doi: 10.1038/s41598-020-79980-x.
In the mouse, 129 functional class I odorant receptor (OR) genes reside in a ~ 3 megabase huge gene cluster on chromosome 7. The J element, a long-range cis-regulatory element governs the singular expression of class I OR genes by exerting its effect over the whole cluster. To elucidate the molecular mechanisms underlying class I-specific enhancer activity of the J element, we analyzed the J element sequence to determine the functional region and essential motif. The 430-bp core J element, that is highly conserved in mammalian species from the platypus to humans, contains a class I-specific conserved motif of AAACTTTTC, multiple homeodomain sites, and a neighboring O/E-like site, as in class II OR-enhancers. A series of transgenic reporter assays demonstrated that the class I-specific motif is not essential, but the 330-bp core J-H/O containing the homeodomain and O/E-like sites is necessary and sufficient for class I-specific enhancer activity. Further motif analysis revealed that one of homeodomain sequence is the Greek Islands composite motif of the adjacent homeodomain and O/E-like sequences, and mutations in the composite motif abolished or severely reduced class I-enhancer activity. Our results demonstrate that class I and class II enhancers share a functional motif for their enhancer activity.
在小鼠中,129 个功能性 I 类气味受体(OR)基因位于染色体 7 上一个约 300 万个碱基对的巨大基因簇中。J 元件是一个长距离顺式调控元件,通过对整个基因簇发挥作用来控制 I 类 OR 基因的特异性表达。为了阐明 J 元件对 I 类特异性增强子活性的分子机制,我们分析了 J 元件序列,以确定其功能区域和必需的基序。430bp 的核心 J 元件在从鸭嘴兽到人类的哺乳动物物种中高度保守,包含一个 I 类特异性的保守基序 AAACTTTTC,多个同源域位点和一个邻近的 O/E 样位点,与 II 类 OR 增强子相似。一系列转基因报告基因实验表明,I 类特异性基序不是必需的,但包含同源域和 O/E 样位点的 330bp 核心 J-H/O 是 I 类特异性增强子活性所必需和充分的。进一步的基序分析表明,一个同源域序列是相邻同源域和 O/E 样序列的希腊群岛复合基序,而在复合基序中发生突变会导致 I 类增强子活性的丧失或严重降低。我们的结果表明,I 类和 II 类增强子共享一个功能性基序用于其增强子活性。