Population variability in X-chromosome inactivation across 10 mammalian species

Werner, Jonathan M, Hover, John, Gillis, Jesse (October 2024) Population variability in X-chromosome inactivation across 10 mammalian species. Nature Communications, 15 (1). p. 8991. ISSN 2041-1723 (Public Dataset)

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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.

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: 18 October 2024
Date Deposited: 21 Oct 2024 15:46
Last Modified: 21 Oct 2024 15:46
PMCID: PMC11487087
Related URLs:
Dataset ID:
  • https://github.com/gillislab/cross_mammal_xci/tree/main/R/data_for_plots
  • https://github.com/gillislab/cross_mammal_xci/blob/main/R/data_for_plots/all_keep_species_meta.Rdata
  • https://gtexportal.org/home/protectedDataAccess
URI: https://repository.cshl.edu/id/eprint/41713

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