Brain X chromosome inactivation is not random and can protect from paternally inherited neurodevelopmental disease.
Eric R Szelenyi, Danielle Fisenne, Joseph E. Knox, Julie A. Harris, James Gornet, Ramesh Palaniswamy, Yongsoo Kim, Kannan Umadevi Venkataraju, Pavel Osten
The paper quantifies whole-brain XCI at single-cell resolution and finds a 60:40 paternal-to-maternal inactivation ratio that reduces disease penetrance in Fragile-X models.
bioRxiv · Oct 13, 2021 · PreprintNeuroscience