ArticleFrontiers in genetics2015
Epigenetics and autoimmune diseases: the X chromosome-nucleolus nexus.
Article in Frontiers in genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 2 of them syntheses that pooled it.
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Who cites it
40 citing papers in PubMed, 2 syntheses or guidelines pooled it, 71 citations in OpenAlex.
- Global prevalence of autoimmune diseases in turner syndrome: a systematic review and meta-analysis.Annals of medicine · 2025Pooled it
- The impact of FMR1 gene mutations on human reproduction and development: a systematic review.Journal of assisted reproduction and genetics · 2016Pooled it
- The endurance effort on a mechanical treadmill does not activate the complement system among trained young women.PloS one · 2026Article
- Beyond the optic disc: Investigating gender-based differences in optic neuritis.World journal of clinical cases · 2025Review
- Understanding Sex Differences in Autoimmune Diseases: Immunologic Mechanisms.International journal of molecular sciences · 2025Review
- Synergistic Effects of Extra X Chromosome on Development of Systemic Lupus Erythematosus and Sjögren Disease in Klinefelter and Triple X Syndrome: A Retrospective Cohort Study.ACR open rheumatology · 2025Article
- Sex as a predictor of clinical phenotype and determinant of immune response in IgG4-related disease: a retrospective study of patients fulfilling the American College of Rheumatology-European League Against Rheumatism classification criteria.The Lancet. Rheumatology · 2024Article
- Polyamine Dysregulation and Nucleolar Disruption in Alzheimer's Disease.Journal of Alzheimer's disease : JAD · 2024Article
- Minding the Gap: Exploring Neuroinflammatory and Microglial Sex Differences in Alzheimer's Disease.International journal of molecular sciences · 2023Review
- Replication stress in mammalian embryo development, differentiation, and reprogramming.Trends in cell biology · 2023Review
- The Pathological Activation of Microglia Is Modulated by Sexually Dimorphic Pathways.International journal of molecular sciences · 2023Review
- Article
- Cardiac and vascular complications in lupus: Is there a role for sex?Frontiers in immunology · 2023Review
- Novel role of long non-coding RNAs in autoimmune cutaneous disease.Journal of cell communication and signaling · 2022Review
- X-linked genes exhibit miR6891-5p-regulated skewing in Sjögren's syndrome.Journal of molecular medicine (Berlin, Germany) · 2022Article
- Nucleosome destabilization by polyamines.Archives of biochemistry and biophysics · 2022Article
- Impact of linker histone in the formation of ambochlorin-calf thymus DNA complex: Multi-spectroscopic, stopped-flow, and molecular modeling approaches.Iranian journal of basic medical sciences · 2021Article
- Uncovering sex differences of rodent microglia.Journal of neuroinflammation · 2021Review
- Article
- Sex differences in neuro(auto)immunity and chronic sciatic nerve pain.Biology of sex differences · 2020Review
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autoimmune diseases occur more often in females, suggesting a key role for the X chromosome. X chromosome inactivation, a major epigenetic feature in female cells that provides dosage compensation of X-linked genes to avoid overexpression, presents special vulnerabilities that can contribute to the disease process. Disruption of X inactivation can result in loss of dosage compensation with expression from previously sequestered genes, imbalance of gene products, and altered endogenous material out of normal epigenetic context. In addition, the human X has significant differences compared to other species and these differences can contribute to the frequency and intensity of the autoimmune disease in humans as well as the types of autoantigens encountered. Here a link is demonstrated between autoimmune diseases, such as systemic lupus erythematosus, and the X chromosome by discussing cases in which typically non-autoimmune disorders complicated with X chromosome abnormalities also present lupus-like symptoms. The discussion is then extended to the reported spatial and temporal associations of the inactive X chromosome with the nucleolus. When frequent episodes of cellular stress occur, the inactive X chromosome may be disrupted and inadvertently become involved in the nucleolar stress response. Development of autoantigens, many of which are at least transiently components of the nucleolus, is then described. Polyamines, which aid in nucleoprotein complex assembly in the nucleolus, increase further during cell stress, and appear to have an important role in the autoimmune disease process. Autoantigenic endogenous material can potentially be stabilized by polyamines. This presents a new paradigm for autoimmune diseases: that many are antigen-driven and the autoantigens originate from altered endogenous material due to episodes of cellular stress that disrupt epigenetic control. This suggests that epigenetics and the X chromosome are important aspects of autoimmune diseases.
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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.