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The role of somatic mosaicism in brain disease.
Current Opinion in Genetics & Development ( IF 3.7 ) Pub Date : 2020-07-01 , DOI: 10.1016/j.gde.2020.05.002
Alexandre Jourdon 1 , Liana Fasching 1 , Soraya Scuderi 1 , Alexej Abyzov 2 , Flora M Vaccarino 3
Affiliation  

In this review we discuss the importance of genetic somatic mosaicism and its impact on brain diseases. We start from introducing the different types of somatic mutations, their frequencies and abundances across development and lifespan. We then describe how weakness in DNA repair mechanisms influences their prevalence. Finally, we address their functional consequences in the brain and review recent research showing their unsuspected importance in several neurodevelopmental, psychiatric, and neurodegenerative diseases.



中文翻译:

体细胞嵌合在脑疾病中的作用。

在这篇综述中,我们讨论了遗传体细胞嵌合的重要性及其对脑部疾病的影响。我们从介绍不同类型的体细胞突变、它们在发育和生命周期中的频率和丰度开始。然后,我们描述了 DNA 修复机制的弱点如何影响它们的流行。最后,我们讨论了它们在大脑中的功能后果,并回顾了最近的研究,这些研究显示了它们在几种神经发育、精神和神经退行性疾病中的意想不到的重要性。

更新日期:2020-07-01
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