ArticleEpigenetics & chromatin2021
Cross-species examination of X-chromosome inactivation highlights domains of escape from silencing.
Article in Epigenetics & chromatin, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 48 citations in OpenAlex.
- Escape from X-chromosome inactivation: from gene discovery to regulatory mechanisms.Biochemical Society transactions · 2026Review
- Review
- Sex-influenced DNA methylation differs by placental cell type.Biology of sex differences · 2026Article
- No Evidence of Impact of Genetic Sex on Hyperthermia-Induced Neural Tube Defects in Chicken Embryos.Birth defects research · 2026Article
- The impact of X chromosome inactivation on human health.Frontiers in genetics · 2026Review
- X chromosome inactivation in mammals: general principles and species-specific considerations.EMBO reports · 2025Review
- X inactivation shows frail ends when mice age.Nature aging · 2025Article
- Escape from X-chromosome inactivation at KDM5C is driven by promoter-proximal DNA elements and enhanced by domain context.Human molecular genetics · 2025Article
- Aging activates escape of the silent X chromosome in the female mouse hippocampus.Science advances · 2025Article
- Isogenic hiPSC models of Turner syndrome development reveal shared roles of inactive X and Y in the human cranial neural crest network.American journal of human genetics · 2025Article
- CTCF-mediated insulation and chromatin environment modulate Car5b escape from X inactivation.BMC biology · 2025Article
- Identification of apelin/APJ signaling dysregulation in a human iPSC-derived granulosa cell model of Turner syndrome.Cell death discovery · 2024Article
- Multifaceted role of CTCF in X-chromosome inactivation.Chromosoma · 2024Review
- Sex chromosome-encoded protein homologs: current progress and open questions.Nature structural & molecular biology · 2024Review
- Evolutionary and biomedical implications of sex differences in the primate brain transcriptome.Cell genomics · 2024Article
- Review
- Isogenic hiPSC models of Turner syndrome development reveal shared roles of inactive X and Y in the human cranial neural crest network.bioRxiv : the preprint server for biology · 2024Article
- Unraveling the role of Xist in X chromosome inactivation: insights from rabbit model and deletion analysis of exons and repeat A.Cellular and molecular life sciences : CMLS · 2024Article
- Sex-specific genetic architecture of late-life memory performance.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Review
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
backgroundX-chromosome inactivation (XCI) in eutherian mammals is the epigenetic inactivation of one of the two X chromosomes in XX females in order to compensate for dosage differences with XY males. Not all genes are inactivated, and the proportion escaping from inactivation varies between human and mouse (the two species that have been extensively studied).
resultsWe used DNA methylation to predict the XCI status of X-linked genes with CpG islands across 12 different species: human, chimp, bonobo, gorilla, orangutan, mouse, cow, sheep, goat, pig, horse and dog. We determined the XCI status of 342 CpG islands on average per species, with most species having 80-90% of genes subject to XCI. Mouse was an outlier, with a higher proportion of genes subject to XCI than found in other species. Sixteen genes were found to have discordant X-chromosome inactivation statuses across multiple species, with five of these showing primate-specific escape from XCI. These discordant genes tended to cluster together within the X chromosome, along with genes with similar patterns of escape from XCI. CTCF-binding, ATAC-seq signal and LTR repeats were enriched at genes escaping XCI when compared to genes subject to XCI; however, enrichment was only observed in three or four of the species tested. LINE and DNA repeats showed enrichment around subject genes, but again not in a consistent subset of species.
conclusionsIn this study, we determined XCI status across 12 species, showing mouse to be an outlier with few genes that escape inactivation. Inactivation status is largely conserved across species. The clustering of genes that change XCI status across species implicates a domain-level control. In contrast, the relatively consistent, but not universal correlation of inactivation status with enrichment of repetitive elements or CTCF binding at promoters demonstrates gene-based influences on inactivation state. This study broadens enrichment analysis of regulatory elements to species beyond human and mouse.
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