ArticleHuman genetics1995
DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor.
Article in Human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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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.
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Who cites it
18 citing papers in PubMed, 57 citations in OpenAlex.
- DNA methylation in disease: Immunodeficiency, Centromeric instability, Facial anomalies syndrome.Essays in biochemistry · 2019Review
- Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey.Journal of clinical immunology · 2016Article
- Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.European journal of human genetics : EJHG · 2013Article
- Peripheral nerve injury is associated with chronic, reversible changes in global DNA methylation in the mouse prefrontal cortex.PloS one · 2013Article
- Prenatal synthetic glucocorticoid treatment changes DNA methylation states in male organ systems: multigenerational effects.Endocrinology · 2012Article
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- Gene clusters, molecular evolution and disease: a speculation.Current genomics · 2009Article
- ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulation.Autoimmunity · 2008Review
- Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF).Orphanet journal of rare diseases · 2006Review
- DNA methylation and chromatin - unraveling the tangled web.Oncogene · 2002Review
- Novel methylation at GpC dinucleotide in the fish Sparus aurata genome.Molecular biology reports · 2000Article
- DNA methylation and histone deacetylation in the control of gene expression: basic biochemistry to human development and disease.Gene expression · 2000Review
- The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome.Proceedings of the National Academy of Sciences of the United States of America · 1999Article
- Hypomethylation of an expanded FMR1 allele is not associated with a global DNA methylation defect.American journal of human genetics · 1999Article
- Cytosine methylation and mammalian development.Genes & development · 1999Article
- A FISH study of chromosome fusion in the ICF syndrome: involvement of paracentric heterochromatin but not of the centromeres themselves.Journal of medical genetics · 1998Article
- Noncomplementation of radiation-induced chromosome aberrations in ataxia-telangiectasia/ataxia-telangiectasia-variant heterodikaryons.American journal of human genetics · 1997Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
ICF syndrome (ICFS) is a rare immunodeficiency disorder characterized by instability of the pericentromeric heterochromatin predominantly of chromosomes 1 and 16. DNA methylation studies in two unrelated ICFS patients provide further evidence for a marked hypomethylation of satellite 2 DNA. The ICFS-specific disturbances of chromatin structure take place within the satellite 2 DNA regions, as demonstrated by fluorescence in situ hybridization analysis. Moreover, methylation studies of genomic imprinted loci D15S63, D15S9, and H19 have revealed hypomethylation to different degrees in both patients; this provides evidence for hypomethylation at autosomal single copy loci in ICFS. Cell fusion experiments have revealed a distinct reduction of chromosomal abnormalities in ICFS cells after fusion with normal cells, suggesting that the abnormalities are caused by the loss of function of an as yet unknown trans acting factor. Although it is now clear that wide-spread DNA hypomethylation is a characteristic feature of ICFS, neither the cause and mechanism of hypomethylation nor their relationship to the clinical symptoms is known. We speculate that a phenotypic effect might result from tissue-dependent abnormal gene expression and/or from a possible structural disturbance of DNA domains, which, with respect to the immunodeficiency, partially prevents the normal somatic recombinations in immunologically active cells.
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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.