ArticleGenome biology2013
Analysis of expressed SNPs identifies variable extents of expression from the human inactive X chromosome.
Article in Genome biology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 108 papers, 2 of them syntheses that pooled it.
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Who cites it
108 citing papers in PubMed, 2 syntheses or guidelines pooled it, 199 citations in OpenAlex.
- X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements.Nature communications · 2024Pooled it
- X chromosome associations with chronic obstructive pulmonary disease and related phenotypes: an X chromosome-wide association study.Respiratory research · 2023Pooled it
- Multimodal single-cell omics analysis identifies epithelium-immune cell interactions and immune vulnerability associated with sex differences in COVID-19.Signal transduction and targeted therapy · 2021Trial
- Monoallelic Gene Expression: Stochastic or Clonal? From Detection to Mechanisms and Clinical Significance.International journal of molecular sciences · 2026Review
- Machine learning reveals X chromosome transcriptional signatures that classify systemic lupus erythematosus in females.BMC rheumatology · 2026Article
- Using combined RNA/DNA short read sequencing to investigate allele-specific expression from the inactive X chromosome in human cells.bioRxiv : the preprint server for biology · 2026Article
- Cell-type specific allelic dampening of sex-linked genes in sex chromosome aneuploidy.bioRxiv : the preprint server for biology · 2026Article
- Escape from X inactivation drives sex differences in gene expression.Molecular biology and evolution · 2026Article
- Escape from X inactivation varies across genes and tissues and shapes sex-biased sex chromosome gene expression.BMC genomics · 2026Article
- MCT8 Deficiency in Females.The Journal of clinical endocrinology and metabolism · 2025Article
- X chromosome inactivation across primary human tissues is mostly complete, with significant implications for genetic and clinical studies.BMC genomics · 2025Article
- Long-read sequencing disentangles isoform complexity at allele-specific loci.Scientific reports · 2025Article
- XIST Loss Induces Variable Transcriptional Responses Dependent on Cell States.Non-coding RNA · 2025Article
- Xq24/HemaSphere · 2025Article
- Article
- Role of X chromosome and dosage-compensation mechanisms in complex trait genetics.American journal of human genetics · 2025Article
- Aging promotes reactivation of the Barr body at distal chromosome regions.Nature aging · 2025Article
- CTCF-mediated insulation and chromatin environment modulate Car5b escape from X inactivation.BMC biology · 2025Article
- Human Single-Cell RNA-Sequencing Data Supports the Hypothesis of X Chromosome Insensitivity but Is Ineffective in Testing the Dosage Compensation Model.Molecular biology and evolution · 2025Article
- Independent effects of testosterone, estradiol, and sex chromosomes on gene expression in immune cells of trans- and cisgender individuals.bioRxiv : the preprint server for biology · 2024Article
48 more citing papers are in PubMed but not listed here.
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundX-chromosome inactivation (XCI) results in the silencing of most genes on one X chromosome, yielding mono-allelic expression in individual cells. However, random XCI results in expression of both alleles in most females. Allelic imbalances have been used genome-wide to detect mono-allelically expressed genes. Analysis of X-linked allelic imbalance in females with skewed XCI offers the opportunity to identify genes that escape XCI with bi-allelic expression in contrast to those with mono-allelic expression and which are therefore subject to XCI.
resultsWe determine XCI status for 409 genes, all of which have at least five informative females in our dataset. The majority of genes are subject to XCI and genes that escape from XCI show a continuum of expression from the inactive X. Inactive X expression corresponds to differences in the level of histone modification detected by allelic imbalance after chromatin immunoprecipitation. Differences in XCI between populations and between cell lines derived from different tissues are observed.
conclusionsWe demonstrate that allelic imbalance can be used to determine an inactivation status for X-linked genes, even without completely non-random XCI. There is a range of expression from the inactive X. Genes escaping XCI, including those that do so in only a subset of females, cluster together, demonstrating that XCI and location on the X chromosome are related. In addition to revealing mechanisms involved in cis-gene regulation, determining which genes escape XCI can expand our understanding of the contributions of X-linked genes to sexual dimorphism.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.