The role of somatic mosaicism in brain disease

被引：15

作者：

Jourdon, Alexandre ^{[1
]}

Fasching, Liana ^{[1
]}

Scuderi, Soraya ^{[1
]}

Abyzov, Alexej ^{[2
]}

Vaccarino, Flora M. ^{[1
,3
]}

机构：

[1] Yale Univ, Child Study Ctr, New Haven, CT 06520 USA

[2] Mayo Clin, Dept Hlth Sci Res, Ctr Individualized Med, Rochester, MN 55905 USA

[3] Yale Univ, Dept Neurosci, New Haven, CT 06520 USA

来源：

CURRENT OPINION IN GENETICS & DEVELOPMENT | 2020年 / 65卷

基金：

美国国家卫生研究院;

关键词：

COPY-NUMBER VARIATION; AUTISM SPECTRUM DISORDER; DNA BREAK CLUSTERS; DE-LANGE-SYNDROME; SINGLE-CELL; EPILEPTIC ENCEPHALOPATHY; ALZHEIMERS-DISEASE; LIGASE-IV; MUTATIONS; ANEUPLOIDY;

D O I：

10.1016/j.gde.2020.05.002

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

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.

引用

页码：84 / 90

页数：7

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