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植物细胞中游戏基因的不及时表达导致单亲异构

H Diego Folco¹, Venkata R Chalamcharla¹, Tomoyasu Sugiyama¹

¹Laboratory of Biochemistry and Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

|February 16, 2017

概括

在RNA干扰 (RNAi) 或Mmi1的缺陷导致单亲异构 (UPD) 通过允许游戏基因早期表达. 这导致染色体错误分离和UPD, 这是一种与人类疾病相关的现象.

科学领域:

遗传学
分子生物学
细胞生物学

背景情况:

单亲异构 (UPD) 涉及从单亲继承同源染色体,通常导致先天性疾病和癌症.
主要归因于染色体分离错误的UPD的根本原因在很大程度上是未知的.

研究的目的:

使用裂变酵母Schizosaccharomyces pombe作为模型系统来研究驱动UPD的分子机制.
确定影响植物性双胞胎细胞中UPD发生频率的因素.

主要方法:

作为一个模型生物体使用了Schizosaccharomyces pombe.
研究了RNA干扰 (RNAi) 机制和Mmi1因子对UPD的缺陷的影响.
在突变细胞中分析了基因表达,特别是游戏性基因.
研究了介质凝聚素Rec8和环素Crs1在抑制UPD中的作用.
评估了Rec8和凝聚素子单元Psc3的定位和功能.

主要成果:

在植物性双胞胎细胞中,RNAi或Mmi1的缺陷显著增加了UPD水平.
这些突变的UPD与早产性基因的表达有关,而不是中心性异质染色体缺陷.
删除Rec8或Crs1可以抑制RNAi和mmi1突变的UPD.
单独过度表达Rec8可以诱导野生类型细胞的UPD.
通过改变染色体分离,在中间体上促进Rec8和Psc3的局部化,导致减少分离.

结论:

游戏性基因的不及时生长表达是UPD的直接原因.
这些发现为UPD及其与人类疾病的联系提供了机理性理解.
确定了参与调节UPD的特定基因和蛋白质,为未来的研究提供了潜在的目标.

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