Article

DNMT3B PWWP mutations cause hypermethylation of heterochromatin

2022-12-19

Abstract excerpt

The correct establishment of DNA methylation patterns is vital for mammalian development and is achieved largely by the de novo DNA methyltransferases DNMT3A and DNMT3B. Mutations in DNMT3B can cause immunodeficiency-centromeric instability-facial anomalies type 1 (ICF1) syndrome which is characterised by hypomethylated heterochromatin. However, in the genome, DNMT3B primarily localises to actively transcribing g...

Topics

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

Identifiers and source

Literature Corpus work: f696cf8d-3c71-5350-b0b9-20431e7b97f4
DOI: 10.1101/2022.12.19.521050

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

DNMT3B PWWP mutations cause hypermethylation of heterochromatinDOI 10.1101/2022.12.19.521050Read

DNMT3B PWWP mutations cause hypermethylation of heterochromatin.Semantic proximity Read

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

The role of the PWWP domain in the DNA methyltransferase 3A targeting to the genomeSemantic proximity Read

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

Two competing mechanisms of DNMT3A recruitment regulate the dynamics of de novo DNA methylation at PRC1-targeted CpG islands.Semantic 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

Structure of DNMT3B homo-oligomer reveals vulnerability to impairment by ICF mutations.Semantic proximity Read

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

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

DNMT3b Dysfunction Promotes DNA cleavages at Centromeric R-loops to Increase Centromere InstabilitySemantic proximity Read

The N-terminal region of DNMT3A combines multiple chromatin reading motifs to guide recruitmentSemantic proximity Read

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