ArticleChromosoma2005
Interphase chromosomal abnormalities and mitotic missegregation of hypomethylated sequences in ICF syndrome cells.
Article in Chromosoma, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. 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.
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
25 citing papers in PubMed, 54 citations in OpenAlex.
- A novel iPSC-based model of ICF syndrome subtype 2 recapitulates the molecular phenotype of ZBTB24 deficiency.Frontiers in immunology · 2024Article
- The aberrant epigenome ofGenome research · 2023Article
- DNMT3b protects centromere integrity by restricting R-loop-mediated DNA damage.Cell death & disease · 2022Article
- Losing DNA methylation at repetitive elements and breaking bad.Epigenetics & chromatin · 2021Review
- Review
- Review
- On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update.Frontiers in genetics · 2019Review
- ICF-specific DNMT3B dysfunction interferes with intragenic regulation of mRNA transcription and alternative splicing.Nucleic acids research · 2017Article
- Article
- Characterization and rescue of telomeric abnormalities in ICF syndrome type I fibroblasts.Frontiers in oncology · 2013Article
- DNA methylation program during development.Frontiers in biology · 2012Article
- Epigenetic mechanisms and genome stability.Clinical epigenetics · 2011Article
- Article
- Suberoylanilide hydroxyamic acid modification of chromatin architecture affects DNA break formation and repair.International journal of radiation oncology, biology, physics · 2010Article
- DNA hypomethylation in cancer cells.Epigenomics · 2009Review
- Epigenetic mechanisms in mammals.Cellular and molecular life sciences : CMLS · 2009Review
- ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulation.Autoimmunity · 2008Review
- The epigenetic origin of aneuploidy.Current genomics · 2008Article
- Chromosome territory reorganization in a human disease with altered DNA methylation.Proceedings of the National Academy of Sciences of the United States of America · 2007Article
- DNA methylation affects nuclear organization, histone modifications, and linker histone binding but not chromatin compaction.The Journal of cell biology · 2007Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 4 institutions in 3 countries.
Funding
Abstract
The immunodeficiency, centromeric region instability, facial anomalies (ICF) syndrome is a rare autosomal recessive disease. Usually, it is caused by mutations in the DNA methyltransferase 3B gene, which result in decreased methylation of satellite DNA in the juxtacentromeric heterochromatin at 1qh, 16qh, and 9qh. Satellite II-rich 1qh and 16qh display high frequencies of abnormalities in mitogen-stimulated ICF lymphocytes without these cells being prone to aneuploidy. Here we show that in lymphoblastoid cell lines from four ICF patients, there was increased colocalization of the hypomethylated 1qh and 16qh sequences in interphase, abnormal looping of pericentromeric DNA sequences at metaphase, formation of bridges at anaphase, chromosome 1 and 16 fragmentation at the telophase-interphase transition, and, in apoptotic cells, micronuclei with overrepresentation of chromosome 1 and 16 material. Another source of anaphase bridging in the ICF cells was random telomeric associations between chromosomes. Our results elucidate the mechanism of formation of ICF chromosome anomalies and suggest that 1qh-16qh associations in interphase can lead to disturbances of mitotic segregation, resulting in micronucleus formation and sometimes apoptosis. This can help explain why specific types of 1qh and 16qh rearrangements are not present at high frequencies in ICF lymphoid cells despite diverse 1qh and 16qh aberrations continuously being generated.
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What OpenQuestion holds
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.