生物
塔塔盒子
基因
发起人
外显子
遗传学
起始密码子
分子生物学
细菌人工染色体
电泳迁移率测定
报告基因
5'侧翼区域
转录因子
基因表达
信使核糖核酸
基因组
作者
Ina Schmitt,Bernd O. Evert,Hassan Khazneh,Thomas Klockgether,Ullrich Wüllner
出处
期刊:Gene
[Elsevier]
日期:2003-09-01
卷期号:314: 81-88
被引量:19
标识
DOI:10.1016/s0378-1119(03)00706-6
摘要
Machado-Joseph disease (MJD) is a progressive neurodegenerative disorder caused by expansion of a CAG motif within the translated region of the human MJD (hMJD) gene which has been mapped to chromosome 14q. In this study, the hMJD gene was identified in two overlapping bacterial artificial chromosome (BAC) clones and contained 11 exons resulting in a 6.14 kb transcript. The 5'-flanking region of the hMJD gene included a TATA-less promoter with GC-rich regions, a CCAAT box and multiple potential SP1 binding sites. Luciferase reporter assays performed in neuronal and non-neuronal human cell lines demonstrated a core promoter within the 200 bp region immediately upstream of the putative transcriptional start site (-89 according to the start codon). DNA-protein interactions defined by electrophoretic mobility shift assays (EMSA) revealed specific binding of nuclear proteins to the putative core promoter region.
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