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印记基因H19下游小鼠L23mrp基因的结构与表达:双等位基因表达及与H19增强子无相互作用

Structure and expression of the mouse L23mrp gene downstream of the imprinted H19 gene: biallelic expression and lack of interaction with the H19 enhancers.

作者信息

Zubair M, Hilton K, Saam J R, Surani M A, Tilghman S M, Sasaki H

机构信息

Institute of Genetic Information, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-82, Japan.

出版信息

Genomics. 1997 Oct 15;45(2):290-6. doi: 10.1006/geno.1997.4961.

Abstract

The human L23 (mitochondrial)-related protein gene, located 40 kb downstream of the imprinted H19 gene, is biallelically expressed. We have cloned and characterized its mouse homolog, L23mrp, which maps to the conserved syntenic region on mouse chromosome 7. The promoter of L23mrp is a CpG island that is transcribed ubiquitously, but at different levels, in different fetal tissues. Allele-specific expression analysis revealed that both parental alleles are equally active. Since the enhancers located between H19 and L23mrp had been shown to be involved in the imprinted expression of Ins-2, Igf-2, and H19, we asked whether they also influence L23mrp. Analysis of mice with a targeted deletion of the enhancers demonstrated that they were not disrupted in the expression of L23mrp. These findings indicate that L23mrp is functionally insulated from the Ins-2/Igf-2/H19 domain in terms of both imprinting and enhancer action.

摘要

人类L23(线粒体)相关蛋白基因位于印记基因H19下游40 kb处,呈双等位基因表达。我们已经克隆并鉴定了其小鼠同源物L23mrp,它定位于小鼠7号染色体上的保守同线区域。L23mrp的启动子是一个CpG岛,在不同的胎儿组织中普遍转录,但转录水平不同。等位基因特异性表达分析表明,两个亲本等位基因的活性相同。由于位于H19和L23mrp之间的增强子已被证明参与Ins-2、Igf-2和H19的印记表达,我们询问它们是否也影响L23mrp。对增强子靶向缺失小鼠的分析表明,它们并未干扰L23mrp的表达。这些发现表明,L23mrp在印记和增强子作用方面在功能上与Ins-2/Igf-2/H19结构域绝缘。

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