Population variability in X-chromosome inactivation across 9 mammalian species

Werner, Jonathan M, Hover, John, Gillis, Jesse (October 2023) Population variability in X-chromosome inactivation across 9 mammalian species. (Submitted)

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URL: https://www.ncbi.nlm.nih.gov/pubmed/37904929
DOI: 10.1101/2023.10.17.562732


One of the two X chromosomes in female mammals is epigenetically silenced in embryonic stem cells by X chromosome inactivation (XCI). This creates a mosaic of cells expressing either the maternal or the paternal X allele. The XCI 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 XCI 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 XCI ratio variability. To address this gap, we measured XCI ratios in nine mammalian species (9,143 individual samples), ranging from rodents to primates, and compared the strength of stochastic models or genetic factors for explaining XCI variability. Our results demonstrate the embryonic stochasticity of XCI is a general explanatory model for population XCI variability in mammals, while genetic factors play a minor role.

Item Type: Paper
Subjects: bioinformatics
bioinformatics > genomics and proteomics > genetics & nucleic acid processing
bioinformatics > genomics and proteomics
organism description > animal
organism description > animal > mammal
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > population genetics
CSHL Authors:
Communities: CSHL labs > Gillis Lab
CSHL labs > Zador lab
SWORD Depositor: CSHL Elements
Depositing User: CSHL Elements
Date: 19 October 2023
Date Deposited: 08 Nov 2023 13:26
Last Modified: 08 Nov 2023 13:26
PMCID: PMC10614859
Related URLs:
URI: https://repository.cshl.edu/id/eprint/41304

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