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Elg1, a central player in genome stability.
Mutation Research/Reviews in Mutation Research ( IF 5.3 ) Pub Date : 2015-03-22 , DOI: 10.1016/j.mrrev.2014.11.007
Inbal Gazy 1 , Batia Liefshitz 1 , Oren Parnas 2 , Martin Kupiec 1
Affiliation  

ELG1 is a conserved gene uncovered in a number of genetic screens in yeast aimed at identifying factors important in the maintenance of genome stability. Elg1's activity prevents gross chromosomal rearrangements, maintains proper telomere length regulation, helps repairing DNA damage created by a number of genotoxins and participates in sister chromatid cohesion. Elg1 is evolutionarily conserved, and its mammalian ortholog (also known as ATAD5) is embryonic lethal when lost in mice, acts as a tumor suppressor in mice and humans, exhibits physical interactions with components of the human Fanconi Anemia pathway and may be responsible for some of the phenotypes associated with neurofibromatosis. In this review, we summarize the information available on Elg1-related activities in yeast and mammals, and present models to explain how the different phenotypes observed in the absence of Elg1 activity are related.

中文翻译:

Elg1,基因组稳定性的核心参与者。

ELG1是一种保守基因,在酵母的许多遗传筛选中均未发现,旨在鉴定对维持基因组稳定性至关重要的因素。Elg1的活性可防止总体染色体重排,维持适当的端粒长度调节,帮助修复由多种基因毒素造成的DNA损伤,并参与染色单体的内聚。Elg1在进化上是保守的,它的哺乳动物直系同源物(也称为ATAD5)在小鼠体内丢失时具有胚胎致死性,在小鼠和人类中起着抑癌作用,与人类Fanconi贫血途径的成分表现出物理相互作用,并可能导致某些与神经纤维瘤病相关的表型。在这篇评论中,我们总结了有关酵母和哺乳动物Elg1相关活性的可用信息,
更新日期:2019-11-01
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