ArticleGenome research2015
The inactive X chromosome is epigenetically unstable and transcriptionally labile in breast cancer.
Article in Genome research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers.
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Who cites it
78 citing papers in PubMed, 146 citations in OpenAlex.
- Chromosome X dosage modulates development of aneuploidy in genetically diverse mouse embryonic stem cells.Stem cell reports · 2026Article
- Exploring the functional role of XIST in breast cancer from mechanisms to clinical implications.Discover oncology · 2026Review
- Nicotinamide N-methyltransferase gene silencing is associated with upregulation of X-inactive specific transcript and downregulation of stemness-related transcription factors in ovarian cancer.Molecular biology reports · 2026Article
- Genomic Instability and Clonal Hematopoiesis in the Deep-Space Environment: The Role of Sex-Chromosome Asymmetry and High-LET Radiation.Current stem cell reports · 2026Article
- Lyonization of X-chromosome: New insights.Journal of genetics · 2026Review
- Nuclear destabilisation - a possible genesis of cancer?Biological reviews of the Cambridge Philosophical Society · 2025Review
- The Somatic Aneuploidy Landscape of Adult Glia Reveals 16p as a Hotspot and Differentiates Mosaicism in Normal Glia from Chromosomal Instability in Glioblastoma.Research square · 2025Article
- XIST Loss Induces Variable Transcriptional Responses Dependent on Cell States.Non-coding RNA · 2025Article
- Epigenetic deprogramming by disruption of CIZ1-RNA nuclear assemblies in early-stage breast cancers.The Journal of cell biology · 2025Article
- X-inactive-specific transcript: a long noncoding RNA with a complex role in sex differences in human disease.Biology of sex differences · 2024Review
- Loss of XIST lncRNA unlocks stemness and cellular plasticity in ovarian cancer.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Article
- Multifaceted role of CTCF in X-chromosome inactivation.Chromosoma · 2024Review
- Inferring replication timing and proliferation dynamics from single-cell DNA sequencing data.Nature communications · 2024Article
- An emerging link between lncRNAs and cancer sex dimorphism.Human genetics · 2024Review
- Review
- KDM5 family as therapeutic targets in breast cancer: Pathogenesis and therapeutic opportunities and challenges.Molecular cancer · 2024Review
- XIST and MUC1-C form an auto-regulatory pathway in driving cancer progression.Cell death & disease · 2024Article
- DNA methylation differences between the female and male X chromosomes in human brain.bioRxiv : the preprint server for biology · 2024Article
- Article
18 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Disappearance of the Barr body is considered a hallmark of cancer, although whether this corresponds to genetic loss or to epigenetic instability and transcriptional reactivation is unclear. Here we show that breast tumors and cell lines frequently display major epigenetic instability of the inactive X chromosome, with highly abnormal 3D nuclear organization and global perturbations of heterochromatin, including gain of euchromatic marks and aberrant distributions of repressive marks such as H3K27me3 and promoter DNA methylation. Genome-wide profiling of chromatin and transcription reveal modified epigenomic landscapes in cancer cells and a significant degree of aberrant gene activity from the inactive X chromosome, including several genes involved in cancer promotion. We demonstrate that many of these genes are aberrantly reactivated in primary breast tumors, and we further demonstrate that epigenetic instability of the inactive X can lead to perturbed dosage of X-linked factors. Taken together, our study provides the first integrated analysis of the inactive X chromosome in the context of breast cancer and establishes that epigenetic erosion of the inactive X can lead to the disappearance of the Barr body in breast cancer cells. This work offers new insights and opens up the possibility of exploiting the inactive X chromosome as an epigenetic biomarker at the molecular and cytological levels in cancer.
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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.