ArticleMolecular biology and evolution2013
Genes that escape X-inactivation in humans have high intraspecific variability in expression, are associated with mental impairment but are not slow evolving.
Article in Molecular biology and evolution, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 75 papers, 1 of them a synthesis that pooled it.
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Who cites it
75 citing papers in PubMed, 1 synthesis or guideline pooled it, 140 citations in OpenAlex.
- X chromosome associations with chronic obstructive pulmonary disease and related phenotypes: an X chromosome-wide association study.Respiratory research · 2023Pooled it
- Review
- Sex Differences in Brain Cell Type-Specific Chromatin Accessibility in Schizophrenia.Biological psychiatry · 2026Article
- Dynamic allele usage of X-linked genes ameliorates neurodevelopmental disease phenotypes in brain organoids.Nature communications · 2026Article
- Sex as a modifier of genetic risk for type 1 diabetes.Diabetes, obesity & metabolism · 2025Review
- X chromosome inactivation across primary human tissues is mostly complete, with significant implications for genetic and clinical studies.BMC genomics · 2025Article
- Hemophagocytic lymphohistiocytosis as the initial manifestation of Epstein-Barr virus-related T/NK-cell lymphoproliferative disorders in a pediatric patient: a case report and literature review.Frontiers in pediatrics · 2025Article
- The interplay between X-chromosome functional dosage and circadian regulation in females.Archives of women's mental health · 2024Article
- Analysis of sex-biased gene expression in a Eurasian admixed population.Briefings in bioinformatics · 2024Article
- The conneXion between sex and immune responses.Nature reviews. Immunology · 2024Review
- Sex as a Determinant of Age-Related Changes in the Brain.International journal of molecular sciences · 2024Review
- Sex differences in brain cell-type specific chromatin accessibility in schizophrenia.Research square · 2024Article
- Sex-biased gene expression during neural differentiation of human embryonic stem cells.Frontiers in cell and developmental biology · 2024Article
- Type I Interferons in Autoimmunity: Implications in Clinical Phenotypes and Treatment Response.The Journal of rheumatology · 2023Review
- Article
- Organ Abnormalities Caused by Turner Syndrome.Cells · 2023Review
- Angiotensin II Increases Oxidative Stress and Inflammation in Female, But Not Male, Endothelial Cells.Cellular and molecular bioengineering · 2023Article
- Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4.American journal of human genetics · 2023Article
- Sex-Related Changes in the Clinical, Genetic, Electrophysiological, Connectivity, and Molecular Presentations of ASD: A Comparison between Human and Animal Models of ASD with Reference to Our Data.International journal of molecular sciences · 2023Review
- Escape from X-inactivation in twins exhibits intra- and inter-individual variability across tissues and is heritable.PLoS genetics · 2023Article
15 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In female mammals most X-linked genes are subject to X-inactivation. However, in humans some X-linked genes escape silencing, these escapees being candidates for the phenotypic aberrations seen in polyX karyotypes. These escape genes have been reported to be under stronger purifying selection than other X-linked genes. Although it is known that escape from X-inactivation is much more common in humans than in mice, systematic assays of escape in humans have to date employed only interspecies somatic cell hybrids. Here we provide the first systematic next-generation sequencing analysis of escape in a human cell line. We analyzed RNA and genotype sequencing data obtained from B lymphocyte cell lines derived from Europeans (CEU) and Yorubans (YRI). By replicated detection of heterozygosis in the transcriptome, we identified 114 escaping genes, including 76 not previously known to be escapees. The newly described escape genes cluster on the X chromosome in the same chromosomal regions as the previously known escapees. There is an excess of escaping genes associated with mental retardation, consistent with this being a common phenotype of polyX phenotypes. We find both differences between populations and between individuals in the propensity to escape. Indeed, we provide the first evidence for there being both hyper- and hypo-escapee females in the human population, consistent with the highly variable phenotypic presentation of polyX karyotypes. Considering also prior data, we reclassify genes as being always, never, and sometimes escape genes. We fail to replicate the prior claim that genes that escape X-inactivation are under stronger purifying selection than others.
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