Article

The rescue of epigenomic abnormalities in ICF1 patient iPSCs following <i>DNMT3B</i> correction is incomplete at a residual fraction of H3K4me3-enriched regions

2022-05-07

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Bi-allelic hypomorphic mutations in DNMT3B disrupt DNA methyltransferase activity and lead to Immunodeficiency, Centromeric instability, Facial anomalies syndrome, type 1 (ICF1). While several ICF1 phenotypes have been linked to abnormally hypomethylated repetitive regions, the unique genomic regions responsible for the remaining disease phenotypes remain largely uncharacte...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: b86714a9-7450-5e71-a27d-3bcef7373b04
DOI: 10.1101/2022.05.07.491011

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The rescue of epigenomic abnormalities in ICF1 patient iPSCs following <i>DNMT3B</i> correction is incomplete at a residual fraction of H3K4me3-enriched regionsDOI 10.1101/2022.05.07.491011Read

Selective demethylation and altered gene expression are associated with ICF syndrome in human-induced pluripotent stem cells and mesenchymal stem cellsSemantic proximity Read

Persistent epigenetic memory impedes rescue of the telomeric phenotype in human ICF iPSCs following DNMT3B correction.Semantic proximity Read

ICF1-Syndrome-Associated DNMT3B Mutations Prevent De Novo Methylation at a Subset of Imprinted Loci during iPSC Reprogramming.Semantic proximity Read

Comparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state.Semantic proximity Read

ICF-specific DNMT3B dysfunction interferes with intragenic regulation of mRNA transcription and alternative splicing.Semantic proximity Read

Induced pluripotent stem cells as a model for telomeric abnormalities in ICF type I syndromeSemantic proximity Read

DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function.Semantic proximity Read

Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient.Semantic proximity Read

Genome-Wide DNA Methylation Analysis Identifies Novel Hypomethylated Non-Pericentromeric Genes with Potential Clinical Implications in ICF Syndrome.Semantic proximity Read

Subtelomeric methylation distinguishes between subtypes of Immunodeficiency, Centromeric instability and Facial anomalies syndrome.Semantic proximity Read

Dnmt3b Prefers Germ Line Genes and Centromeric Regions: Lessons from the ICF Syndrome and Cancer and Implications for DiseasesSemantic proximity Read

DNA methylation in disease: Immunodeficiency, Centromeric instability, Facial anomalies syndrome.Semantic proximity Read