鼠标的胰岛素样生长因子2型受体被印制并与Tme位点密切相关
D P Barlow1, R Stöger, B G Herrmann
1Research Institute for Molecular Pathology, Vienna, Austria.
Nature
|January 3, 1991
概括
母性效应突变Tme在小鼠中导致胚胎死亡. 研究人员确定了胰岛素样生长因子2型受体 (Igf2r) 基因被印记并与Tme联系在一起,为基因组印记提供了洞察力.
科学领域:
- 发展生物学 发展生物学
- 遗传学 是一个遗传学.
- 基因组学就是基因组学.
背景情况:
- 与T相关的母性效应 (Tme) 是小鼠中唯一发现的母性效应突变,导致胚胎致死.
- 基因组印记,其中基因表达取决于父母的起源,在小鼠中已知,但印记的基因在很大程度上仍然没有表征.
- 虽然Tme位点的确切位置未知,但它是局部化到染色体17上的1cM区域,使用了删除突变.
研究的目的:
- 在Tme位点克隆印制的基因.
- 调查Tme介导的胚胎致死性的遗传基础.
主要方法:
- 利用染色体17删除突变 (Thp和tLub2) 来缩小Tme位置.
- 采用脉冲场凝电泳,用探针检测Igf2r,Sod-2,Plg和TCP-1来绘制基因位置的地图.
- 在发育中的胚胎中分析了基因表达模式 (母系与父系等位基因).
主要成果:
- 该Tme locus被定位为一个800-1,100 kb地区.
- 胰岛素样生长因子类型-2受体 (Igf2r) 和线粒体超氧化物脱酶-2 (Sod-2) 基因在Thp和tLub2删除突变体中都不存在.
- Igf2r表现出母性特异性表达,表明它是印记的,而Tcp-1,Plg和Sod-2显示出双性表达.
结论:
- 胰岛素样生长因子2型受体 (Igf2r) 基因被印制并位于非常接近或与Tme位点相同的位置.
- 这一发现为小鼠提供了第一个与已知的母性效应突变相关的克隆印记基因.
- 了解Igf2r印记提供了对Tme相关胚胎致死性和更广泛的基因组印记过程机制的关键见解.
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