ArticlePloS one2013
Androgen receptor function links human sexual dimorphism to DNA methylation.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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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.
The trial behind it
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
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- The Lipocalin Apolipoprotein D Functional Portrait: A Systematic Review.Frontiers in physiology · 2021Pooled it
- Epigenetic Clocks Can Predict Age in the Largemouth Bass-Complex Despite Spatial and Sexual Variation.Evolutionary applications · 2026Article
- Epigenetic landscape of hormone-independent sexual dimorphism and characterization of canine XIST.Scientific reports · 2025Article
- Genome-wide methylation analysis in patients with proximal hypospadias - a pilot study and review of the literature.Epigenetics · 2024Review
- Epigenetic developmental mechanisms underlying sex differences in cancer.The Journal of clinical investigation · 2024Review
- Molecular genetics and general management of androgen insensitivity syndrome.Intractable & rare diseases research · 2023Review
- Castration delays epigenetic aging and feminizes DNA methylation at androgen-regulated loci.eLife · 2021Article
- Artificial Intelligence in Epigenetic Studies: Shedding Light on Rare Diseases.Frontiers in molecular biosciences · 2021Review
- DNA methylation in promoter regions of genes involved in the reproductive and metabolic function of children born to women with PCOS.Epigenetics · 2020Article
- Developmental Programming: Contribution of Epigenetic Enzymes to Antral Follicular Defects in the Sheep Model of PCOS.Endocrinology · 2019Article
- Tissue-specific sex differences in human gene expression.Human molecular genetics · 2019Article
- Our Environment Shapes Us: The Importance of Environment and Sex Differences in Regulation of Autoantibody Production.Frontiers in immunology · 2018Review
- Prostate Cancer: Is It a Battle Lost to Age?Geriatrics (Basel, Switzerland) · 2016Review
- Integrative analysis of methylome and transcriptome in human blood identifies extensive sex- and immune cell-specific differentially methylated regions.Epigenetics · 2015Article
- In vivo investigations of the effect of short- and long-term recombinant growth hormone treatment on DNA-methylation in humans.PloS one · 2015Article
- Management of disorders of sex development.Nature reviews. Endocrinology · 2014Review
- Early embryonic androgen exposure induces transgenerational epigenetic and metabolic changes.Molecular endocrinology (Baltimore, Md.) · 2014Article
- Article
Corrections and comments
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Authors and funding
15 authors at 8 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sex differences are well known to be determinants of development, health and disease. Epigenetic mechanisms are also known to differ between men and women through X-inactivation in females. We hypothesized that epigenetic sex differences may also result from sex hormone functions, in particular from long-lasting androgen programming. We aimed at investigating whether inactivation of the androgen receptor, the key regulator of normal male sex development, is associated with differences of the patterns of DNA methylation marks in genital tissues. To this end, we performed large scale array-based analysis of gene methylation profiles on genomic DNA from labioscrotal skin fibroblasts of 8 males and 26 individuals with androgen insensitivity syndrome (AIS) due to inactivating androgen receptor gene mutations. By this approach we identified differential methylation of 167 CpG loci representing 162 unique human genes. These were significantly enriched for androgen target genes and low CpG content promoter genes. Additional 75 genes showed a significant increase of heterogeneity of methylation in AIS compared to a high homogeneity in normal male controls. Our data show that normal and aberrant androgen receptor function is associated with distinct patterns of DNA-methylation marks in genital tissues. These findings support the concept that transcription factor binding to the DNA has an impact on the shape of the DNA methylome. These data which derived from a rare human model suggest that androgen programming of methylation marks contributes to sexual dimorphism in the human which might have considerable impact on the manifestation of sex-associated phenotypes and diseases.
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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.