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Updated: Dec 16, 2025

Lineage Tracing and Clonal Analysis in Developing Cerebral Cortex Using Mosaic Analysis with Double Markers MADM
Published on: May 8, 2020
The role of somatic mosaicism in brain disease
Alexandre Jourdon1, Liana Fasching1, Soraya Scuderi1
1Child Study Center, Yale University, New Haven, CT 06520, USA.
Abstract:
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.
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