Cloning and characterization of the mouse and human enamelin genes
Cloning and characterization of the mouse and human enamelin genes
复制标题
DOI：
10.1177/00220345010800031001
复制
发表时间：
2001-03-01
影响因子：
7.6
通讯作者：
Simmer, JP
中科院分区：
文献类型：
--
作者：
Hu, JCC;Zhang, CH;Simmer, JP
牙釉质对于牙釉质的形成是必不可少的。它在整个分泌阶段由成釉细胞分泌，可以很容易地从发育中的牙齿的牙釉质基质中分离出来。编码人釉素的基因位于4号染色体的长臂上，该区域先前与常染色体显性的无染色体发育不全症（AI）有关。为了进一步了解瓷釉素基因的结构，以便进一步研究瓷釉素在正常和病变牙釉质形成中的作用，我们克隆了小鼠和人的瓷釉素基因并对其进行了表征。这两个基因都有大约25千碱基长。釉素基因有10个外显子被9个内含子打断。翻译开始于外显子3，结束于外显子10。在小鼠和人的釉质编码区内，所有的内含子/外显子连接都位于密码子之间，因此在任何外显子中都不存在部分密码子，并且通过选择性RNA剪接删除一个或多个编码外显子不会改变下游阅读框。
Enamelin is likely to be essential for proper dental enamel formation. It is secreted by ameloblasts throughout the secretory stage and can readily be isolated from the enamel matrix of developing teeth. The gene encoding human enamelin is located on the long arm of chromosome 4, in a region previously linked to an autosomal-dominant form of amelogenesis imperfecta (AI). To gain information on the structure of the enamelin gene and to facilitate the future assessment of the role of enamelin in normal and diseased enamel fori-nation, we have cloned and characterized the mouse and human enamelin genes. Both genes are about 25 kilobases long. The enamelin gene has 10 exons interrupted by 9 introns. Translation initiates in exon 3 and terminates in exon 10. All of the intron/exon junctions within the mouse and human enamelin coding regions are between codons, so there are no partial codons in any exon, and deletion of one or more coding exons by alternative RNA splicing would not shift the downstream reading frame.