ArticleBlood2012
Methylation of AR locus does not always reflect X chromosome inactivation state.
Article in Blood, 2012. 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 25 papers.
What it found
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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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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
25 citing papers in PubMed, 54 citations in OpenAlex.
- RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases.BMC medical genomics · 2025Article
- X-inactive specific transcript (XIST) can determine sex differences in cardiovascular drug responses: focus on RNA therapeutics.Frontiers in pharmacology · 2025Article
- Review
- X chromosome inactivation skewing is common in advanced carotid atherosclerotic lesions in females and predicts secondary peripheral artery events.Biology of sex differences · 2023Article
- A View on Uterine Leiomyoma Genesis through the Prism of Genetic, Epigenetic and Cellular Heterogeneity.International journal of molecular sciences · 2023Review
- Single-cell sequencing reveals novel cellular heterogeneity in uterine leiomyomas.Human reproduction (Oxford, England) · 2022Article
- Not Just Loss-of-Function Variations: Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution.Neurology. Genetics · 2022Article
- Use of theGenes · 2022Article
- Dosage Compensation in Females with X-Linked Metabolic Disorders.International journal of molecular sciences · 2021Review
- Random X chromosome inactivation in patients with Klinefelter syndrome.Molecular and cellular pediatrics · 2020Article
- Article
- X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.Scientific reports · 2019Article
- Aberrant X chromosome skewing and acquired clonal hematopoiesis in adult-onset common variable immunodeficiency.JCI insight · 2019Article
- Skewed X-inactivation is common in the general female population.European journal of human genetics : EJHG · 2019Article
- Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent disease.Journal of human genetics · 2018Article
- Familial MPN Predisposition.Current hematologic malignancy reports · 2017Review
- Microsatellites within the feline androgen receptor are suitable for X chromosome-linked clonality testing in archival material.Journal of feline medicine and surgery · 2017Article
- Presence of polyclonal hematopoiesis in females with Ph-negative myeloproliferative neoplasms.Leukemia · 2015Article
- Buccal swab as a reliable predictor for X inactivation ratio in inaccessible tissues.Journal of medical genetics · 2015Article
- X Chromosome Inactivation in Opioid Addicted Women.Basic and clinical neuroscience · 2015Article
Corrections and comments
- Erratum issuedCairns, Bradley [corrected to Cairns, Bradley R]
Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
Abstract
Clonality can be established by a lack of mosaicism in a female because of random inactivation of either the maternal or paternal X chromosome early in embryogenesis. The methylation status of CpG sites close to the trinucleotide repeats in exon 1 of the human androgen receptor (AR) X chromosome gene assay (HUMARA) has been used to determine clonality. This HUMARA at times indicated clonal hematopoiesis in healthy elderly women, thus precluding its applicability. We used a clonality assay based on quantitative expression of polymorphic X chromosome genes (qTCA) and found no evidence of clonal hematopoiesis in healthy nonanemic elderly persons. We found instances of discordance between HUMARA results and those obtained by pyrosequencing and qTCA methods, as well as by directly quantifying AR gene expression. To determine the basis of this discrepancy we examined the methylation pattern of the AR locus subject to HUMARA. Notably, we found the extent of DNA methylation to be highly variable at the AR gene in granulocytes of persons with discordant results and also in erythroid burst-forming unit colonies but not in those with clonal hematopoiesis. These data provide the molecular basis of incomplete correlation with the pattern of DNA methylation of this X chromosome AR gene locus.
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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.