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Post-zygotic Brain Mosaicism as a Result of Partial Reversion of Pre-zygotic Aneuploidy by Changuk Chung; Xiaoxu Yang; Joseph G. Gleeson is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Post-zygotic Brain Mosaicism as a Result of Partial Reversion of Pre-zygotic Aneuploidy about?

Brain somatic mosaicism is linked to several neurological disorders and is thought to arise post-zygotically. A study suggests that pre-zygotic aneuploidy followed by post-zygotic partial reversion leads to a recurrent form of brain mosaicism-related epilepsy. Not all cells within a human individual are genetically identical. Differences in genomic sequences of cells within an organism are referred to as mosaicism, creating a patchwork-like quilt of genetic clones in the body. Brain somatic mosaicism can cause neurological disorders, such as focal epilepsy and brain tumors, and probably contributes to more common conditions such as autism spectrum disorders, schizophrenia and Alzheimer's disease. Although mosaicism is thought to arise post-zygotically, Miller et al. 1 report in this of Nature Genetics a potentially pre-zygotic origin of copy number gain that undergoes partial post-zygotic reversion, leading to brain mosaicism and focal epilepsy in humans. The authors detect a 1q copy number gain in brain malformations resected from six patients with severe epilepsy. They demonstrate that the additional 1q copy arises from the presumably non-transmitted

Who reads Post-zygotic Brain Mosaicism as a Result of Partial Reversion of Pre-zygotic Aneuploidy?

Author

Changuk Chung; Xiaoxu Yang; Joseph G. Gleeson

Publisher

Springer Science and Business Media LLC

Published

2023

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)