Population variability in X-chromosome inactivation across 10 mammalian species

Jonathan M. Werner, John Hover and Jesse Gillis ()
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Jonathan M. Werner: Cold Spring Harbor Laboratory
John Hover: Cold Spring Harbor Laboratory
Jesse Gillis: Cold Spring Harbor Laboratory

Nature Communications, 2024, vol. 15, issue 1, 1-12

Abstract: Abstract One of the two X-chromosomes in female mammals is epigenetically silenced in embryonic stem cells by X-chromosome inactivation. This creates a mosaic of cells expressing either the maternal or the paternal X allele. The X-chromosome inactivation ratio, the proportion of inactivated parental alleles, varies widely among individuals, representing the largest instance of epigenetic variability within mammalian populations. While various contributing factors to X-chromosome inactivation variability are recognized, namely stochastic and/or genetic effects, their relative contributions are poorly understood. This is due in part to limited cross-species analysis, making it difficult to distinguish between generalizable or species-specific mechanisms for X-chromosome inactivation ratio variability. To address this gap, we measure X-chromosome inactivation ratios in ten mammalian species (9531 individual samples), ranging from rodents to primates, and compare the strength of stochastic models or genetic factors for explaining X-chromosome inactivation variability. Our results demonstrate the embryonic stochasticity of X-chromosome inactivation is a general explanatory model for population X-chromosome inactivation variability in mammals, while genetic factors play a minor role.

Date: 2024
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DOI: 10.1038/s41467-024-53449-1

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