Distributed X chromosome inactivation in brain circuitry is associated with X-linked disease penetrance of behavior

Szelenyi et al. demonstrate that adult brain XCI is systematically biased toward maternal X-active cells, which is sufficient for disease penetrance of the X-linked Fmr1-KO allele. Furthermore, local XCI mosaicism distinguishes phenotypic outcomes of individuals based on mutant X-active cells populating distinct brain circuits.

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