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[小家鼠中基因Fused的配子印记与表达]

[Gametic imprinting and expression of the gene Fused in the house mice].

作者信息

Ruvinskiĭ A O, Agul'nik A I

出版信息

Genetika. 1990 Apr;26(4):717-28.

PMID:2373358
Abstract

The discovery of the gametic imprinting phenomena in mammals makes it possible to have a new look at some facts concerning the expression and inheritance of genes with variable penetrance. Fused (Fu) is a dominant mutation located on chromosome 17, one of the few examples uses to demonstrate gametic imprinting in mice. This mutation has maternal effect connected with decrease in its penetrance. It was shown that t12 haplotype significantly reduces penetrance of the Fu in the progeny of Fu/t12 females. The results of reciprocal crosses of heterozygotes for t12 haplotypes indicate that penetrance of maternal Fu gene is reduced. Far more strong influence on the fused penetrance have the dominant suppressors, located beyond the chromosome 17. The penetrance of the fused gene decreases in that case up to 8-17%. Results of the experiments show strong influence of gametic pathway on penetrance of the gene by which the gene is transmitted to the next generation. The results also made it possible to describe the regularities of gametic imprinting. This phenomenon clearly indicates the existence of gametic and zygotic ontogenetic phases. According to the hypothesis proposed gametic phase of ontogenesis in mammals starts after initialization, i. e. after a process of chromosome erasing from epigenetic information and preparing to enter the next ontogenetic cycle.

摘要

哺乳动物中配子印记现象的发现,使得人们有可能以全新视角审视一些有关具有可变外显率基因的表达和遗传的事实。Fused(Fu)是位于17号染色体上的一个显性突变,是用于证明小鼠配子印记的少数例子之一。这种突变具有母性效应,与其外显率降低有关。研究表明,t12单倍型显著降低了Fu/t12雌性后代中Fu的外显率。t12单倍型杂合子的正反交结果表明,母本Fu基因的外显率降低。位于17号染色体之外的显性抑制因子对Fused外显率的影响更为强烈。在这种情况下,融合基因的外显率降低至8%-17%。实验结果表明配子途径对基因传递给下一代时的外显率有强烈影响。这些结果还使得描述配子印记的规律成为可能。这一现象清楚地表明了配子和合子个体发育阶段的存在。根据所提出的假设,哺乳动物个体发育的配子阶段在初始化之后开始,即从表观遗传信息中进行染色体擦除并准备进入下一个个体发育周期的过程之后开始。

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