ArticleProceedings of the National Academy of Sciences of the United States of America2007
Chromosome territory reorganization in a human disease with altered DNA methylation.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 70 citations in OpenAlex.
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- Effects of methotrexate on the quality of oocyte maturation in vitro.European biophysics journal : EBJ · 2018Article
- Super-resolution structure of DNA significantly differs in buccal cells of controls and Alzheimer's patients.Journal of cellular physiology · 2017Article
- ICF-specific DNMT3B dysfunction interferes with intragenic regulation of mRNA transcription and alternative splicing.Nucleic acids research · 2017Article
- A single day of 5-azacytidine exposure during development induces neurodegeneration in neonatal mice and neurobehavioral deficits in adult mice.Physiology & behavior · 2016Article
- Spatial Genome Organization and Its Emerging Role as a Potential Diagnosis Tool.Frontiers in genetics · 2016Review
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- Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology.Orphanet journal of rare diseases · 2014Article
- Nuclear architecture as an epigenetic regulator of neural development and function.Neuroscience · 2014Review
- Epigenetic control of hypoxia inducible factor-1α-dependent expression of placental growth factor in hypoxic conditions.Epigenetics · 2014Article
- 3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome.Molecular cytogenetics · 2014Article
- DNA looping facilitates targeting of a chromatin remodeling enzyme.Molecular cell · 2013Article
- The changes in chromosome 6 spatial organization during chromatin polytenization in the Calliphora erythrocephala Mg. (Diptera: Calliphoridae) nurse cells.Protoplasma · 2013Article
- Increased expression of P-glycoprotein and doxorubicin chemoresistance of metastatic breast cancer is regulated by miR-298.The American journal of pathology · 2012Article
- MeCP2 as a genome-wide modulator: the renewal of an old story.Frontiers in genetics · 2012Article
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Authors and funding
4 authors at 4 institutions in 2 countries.
Funding
Abstract
Chromosome territory (CT) organization and chromatin condensation have been linked to gene expression. Although individual genes can be transcribed from inside CTs, some regions that have constitutively high expression or are coordinately activated loop out from CTs and decondense. The relationship between epigenetic marks, such as DNA methylation, and higher-order chromatin structures is largely unexplored. DNMT3B mutations in immunodeficiency centromeric instability facial anomalies (ICF) syndrome result in loss of DNA methylation at particular sites, including CpG islands on the inactive X chromosome (Xi). This allows the specific effects of DNA methylation on CTs to be examined. Using fluorescence in situ hybridization, we reveal a differential organization of the human pseudoautosomal region (PAR)2 between the CTs of the X and Y in normal males and the active X (Xa) and the Xi in females. There is also a more condensed chromatin structure on Xi compared with Xa in this region. PAR2 genes are relocalized toward the outside of the Y and Xi CTs in ICF, and on the Xi, we show that this can extend to genes distant from the site of DNA hypomethylation itself. This reorganization is not simply a reflection of the transcriptional activation of the relocalized genes. This report of altered CT organization in a human genetic disease illustrates that DNA hypomethylation at restricted sites in the genome can lead to more extensive changes in nuclear organization away from the original site of epigenetic change.
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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.