ArticleProceedings of the National Academy of Sciences of the United States of America1999
Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
65 citing papers in PubMed, 156 citations in OpenAlex.
- Clinical description, genetic analysis and characterization of two NLRP12 heterozygous VUS variants.Frontiers in immunology · 2026Article
- Aging activates escape of the silent X chromosome in the female mouse hippocampus.Science advances · 2025Article
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- Sex differences in susceptibility to substance use disorder: Role for X chromosome inactivation and escape?Molecular and cellular neurosciences · 2023Review
- The human inactive X chromosome modulates expression of the active X chromosome.Cell genomics · 2023Article
- Integrative epigenome profiling of 47XXY provides insights into whole genomic DNA hypermethylation and active chromatin accessibility.Frontiers in molecular biosciences · 2023Article
- Article
- Placental sex-dependent spermine synthesis regulates trophoblast gene expression through acetyl-coA metabolism and histone acetylation.Communications biology · 2022Article
- Case Report:Frontiers in genetics · 2022Article
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- Testing and estimation of X-chromosome SNP effects: Impact of model assumptions.Genetic epidemiology · 2021Article
- Is subretinal AAV gene replacement still the only viable treatment option for choroideremia?Expert opinion on orphan drugs · 2021Article
- Escape from X chromosome inactivation and female bias of autoimmune diseases.Molecular medicine (Cambridge, Mass.) · 2020Review
- Characterization of chromatin at structurally abnormal inactive X chromosomes reveals potential evidence of a rare hybrid active and inactive isodicentric X chromosome.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2020Article
- Modeling Klinefelter Syndrome Using Induced Pluripotent Stem Cells Reveals Impaired Germ Cell Differentiation.Frontiers in cell and developmental biology · 2020Article
- Statistical methods for testing X chromosome variant associations: application to sex-specific characteristics of bipolar disorder.Biology of sex differences · 2019Article
- No imprinted XIST expression in pigs: biallelic XIST expression in early embryos and random X inactivation in placentas.Cellular and molecular life sciences : CMLS · 2019Article
- When the balance is broken: X-linked gene dosage from two X chromosomes and female-biased autoimmunity.Journal of leukocyte biology · 2019Review
- Tissue-specific sex differences in human gene expression.Human molecular genetics · 2019Article
5 more citing papers are in PubMed but not listed here.
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
In mammalian females, most genes on one X chromosome are transcriptionally silenced as a result of X chromosome inactivation. Whereas it is well established that some X-linked genes "escape" X inactivation and are expressed from both active (Xa) and inactive (Xi) X chromosomes, most models for the chromosomal control of X-linked gene expression assume that the X inactivation status of a given gene is constant among different females within a population. In this report, we test the expression of human X-linked genes in primary cell lines from females with complete nonrandom X inactivation, by using transcribed polymorphisms to distinguish Xa and Xi expression. Six X-linked genes used to document this assay system showed monoallelic expression in all informative cell lines, consistent with X inactivation. However, a novel pattern of expression was observed for another gene, REP1; monoallelic expression, indicating inactivation, was detected in some lines, whereas biallelic expression, indicating escape from inactivation, was detected in others. Furthermore, levels of Xi expression varied among cell lines that expressed REP1. The cellular basis of Xi expression was examined by expression assays in single cells. These data indicate that REP1 is expressed from the Xi in all cells, but that the level of expression relative to Xa levels is reduced. These findings suggest that Xi gene expression is under a previously unsuspected level of genetic or epigenetic control, likely involving local or regional changes in chromatin organization that determine whether a gene escapes or is subject to X inactivation.
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Registered trials
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.