Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene
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Summary
It is shown that five unrelated ICF patients have mutations in both alleles of the gene that encodes DNA methyltransferase 3B (refs 5, 6), which is the only genetic disorder known to involve constitutive abnormalities of genomic methylation patterns.
- Type
- article
- Published
- 1999-11-11
- Cited by
- 1,217
- References
- 26
- OpenAlex
- https://openalex.org/W1652583010
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:4338524
Keywords
Genetics, Biology, DNMT3B, Centromere, Genome instability
References
- Cytosine-specific type II DNA methyltransferases. A conserved enzyme core with variable target-recognizing domains.
- The host defence function of genomic methylation patterns.
- Maintenance of genomic methylation requires a SWI2/SNF2-like protein
- DNA hypomethylation leads to elevated mutation rates
- Cloning and characterization of a family of novel mammalian DNA (cytosine-5) methyltransferases
- Dependence of transcriptional repression on CpG methylation density
- A FISH study of chromosome fusion in the ICF syndrome: involvement of paracentric heterochromatin but not of the centromeres themselves.
- Localization of the ICF syndrome to chromosome 20 by homozygosity mapping.
- Association of transcriptionally silent genes with Ikaros complexes at centromeric heterochromatin.
- Pieces of the puzzle: expressed sequence tags and the catalog of human genes
- Monitoring of urinary excretion of modified nucleosides in cancer patients using a set of six monoclonal antibodies.
- Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome.
- Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).
- Cytosine methylation and the ecology of intragenomic parasites.
- Abnormal methylation does not prevent X inactivation in ICF patients
- The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors.
- Predictive motifs derived from cytosine methyltransferases.
- Hhal methyltransferase flips its target base out of the DNA helix
- DNA modification mechanisms and gene activity during development
- Localization of 5-methylcytosine in human metaphase chromosomes by immunoelectron microscopy.
Cited by
- Epigenetic deregulation in rheumatoid arthritis.
- Beyond Watson and Crick: DNA Methylation and Molecular Enzymology of DNA Methyltransferases
- DNA Methyltransferase Deficiency Modifies Cancer Susceptibility in Mice Lacking DNA Mismatch Repair
- Overexpression of a splice variant of DNA methyltransferase 3b, DNMT3b4, associated with DNA hypomethylation on pericentromeric satellite regions during human hepatocarcinogenesis
- Stage- and cell-specific expression of Dnmt3a and Dnmt3b during embryogenesis.
- DNA methylation in the immune system.
- DNA methylation and human diseases.
- Molecular logic underlying chromosomal translocations, random or non-random?
- Centromeres in cell division, evolution, nuclear organization and disease
- Generation of tetracycline-inducible conditional gene knockout cells in a human Nalm-6 cell line.
- HapMap methylation-associated SNPs, markers of germline DNA methylation, positively correlate with regional levels of human meiotic recombination.
- HOXB13, a Target of DNMT3B, Is Methylated at an Upstream CpG Island, and Functions as a Tumor Suppressor in Primary Colorectal Tumors
- Reversible disruption of pericentric heterochromatin and centromere function by inhibiting deacetylases
- Epigenetic Drug Discovery
- Interactions between MTHFR C677T-A1298C variants and folic acid deficiency affect breast cancer risk in a Chinese population.
- Altered LINE-1 Methylation in Mothers of Children with Down Syndrome
- Evolutionary impacts of DNA methylation on vertebrate genomes
- Epigenetics: role of germ cell imprinting.
- Sumoylation in Craniofacial Disorders.
- DNA Methylation: An Epigenetic mechanism in oral squamous cell carcinoma
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