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小鼠3-甲基腺嘌呤DNA糖基化酶基因的结构及其在11号染色体上α-珠蛋白基因簇上游的确切定位。

Structure of the mouse 3-methyladenine DNA glycosylase gene and exact localization upstream of the alpha-globin gene cluster on chromosome 11.

作者信息

Kielman M F, Smits R, Bernini L F

机构信息

Department of Human Genetics, State University Leiden, The Netherlands.

出版信息

Mamm Genome. 1995 Aug;6(8):499-504. doi: 10.1007/BF00356165.

Abstract

In this paper we describe the genomic organization of the mouse 3-Methyladenine DNA Glycosylase (MPG) gene and localize three putative regulatory elements around this gene. The MPG gene plays a key role in the excision repair of methylated adenine residues and has been localized upstream of the alpha-globin gene cluster in human and mouse. The human MPG gene has been fully characterized, whereas up to now only the cDNA sequence of the mouse MPG gene had been published. Here, we describe a detailed restriction map, the intron/exon structure, the CpG-rich putative promoter sequence, and the exact localization of the mouse MPG gene with respect to the murine alpha-globin gene cluster. Our analysis reveals a remarkable different exon/intron structure of the mouse MPG gene compared with its human homolog. Two prominent DNase hypersensitive sites (HSS) were found 0.1 and 1.5 kb upstream of the coding sequence. In addition to these elements, an erythroid prominent HSS was mapped at the intron/exon boundary of the last exon. The characterization and localization of the MPG gene in mouse makes it now possible to carry out transgenic and gene targeting experiments and are essential to understand the control of gene expression of the MPG gene in particular and of the whole region in general.

摘要

在本文中,我们描述了小鼠3-甲基腺嘌呤DNA糖基化酶(MPG)基因的基因组组织,并定位了该基因周围的三个假定调控元件。MPG基因在甲基化腺嘌呤残基的切除修复中起关键作用,已定位在人类和小鼠α-珠蛋白基因簇的上游。人类MPG基因已得到充分表征,而到目前为止,仅发表了小鼠MPG基因的cDNA序列。在这里,我们描述了详细的限制性图谱、内含子/外显子结构、富含CpG的假定启动子序列,以及小鼠MPG基因相对于小鼠α-珠蛋白基因簇的确切定位。我们的分析揭示了小鼠MPG基因与其人类同源基因相比具有显著不同的外显子/内含子结构。在编码序列上游0.1和1.5 kb处发现了两个明显的DNase超敏感位点(HSS)。除了这些元件外,在最后一个外显子的内含子/外显子边界处还定位了一个红细胞特异性HSS。小鼠MPG基因的表征和定位使得现在能够进行转基因和基因靶向实验,对于理解MPG基因特别是整个区域基因表达的控制至关重要。

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