Chromatin remodeling in replication-uncoupled maintenance DNA methylation and chromosome stability: Insights from ICF syndrome studies.
DNA methylation
DNA repair
DNA replication
ICF syndrome
chromatin remodeling
chromosome stability
homologous recombination
multiradial chromosome
nonhomologous end joining
pericentromere
Journal
Genes to cells : devoted to molecular & cellular mechanisms
ISSN: 1365-2443
Titre abrégé: Genes Cells
Pays: England
ID NLM: 9607379
Informations de publication
Date de publication:
Jun 2021
Jun 2021
Historique:
revised:
06
04
2021
received:
19
03
2021
accepted:
06
04
2021
pubmed:
8
5
2021
medline:
16
7
2021
entrez:
7
5
2021
Statut:
ppublish
Résumé
Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is characterized by frequent appearance of multiradial chromosomes, which are distinctive chromosome fusions that occur at hypomethylated pericentromeric regions comprising repetitive sequences, in activated lymphocytes. The syndrome is caused by mutations in DNMT3B, ZBTB24, CDCA7, or HELLS. De novo DNA methylation is likely defective in patients with ICF syndrome harboring mutations in DNMT3B, whereas accumulating evidence suggests that replication-uncoupled maintenance DNA methylation of late-replicating regions is impaired in patients with ICF syndrome harboring mutations in ZBTB24, CDCA7, or HELLS. ZBTB24 is a transcriptional activator of CDCA7, and CDCA7 and HELLS compose a chromatin remodeling complex and are involved in the maintenance DNA methylation through an interaction with UHRF1 in a feed-forward manner. Furthermore, our recent studies possibly provided the missing link between DNA hypomethylation and the formation of the abnormal chromosomes; it could occur via aberrant transcription from the hypomethylated regions, followed by pathological R-loop formation. The homologous-recombination dominant condition caused by a defect in nonhomologous end joining observed in several types of ICF syndrome could facilitate the formation of multiradial chromosomes. Here, the latest knowledge regarding maintenance DNA methylation and chromosome stability provided by those studies is reviewed.
Identifiants
pubmed: 33960584
doi: 10.1111/gtc.12850
pmc: PMC9292322
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
349-359Subventions
Organisme : Kyushu University
Organisme : Naito Foundation
Organisme : Takeda Science Foundation
Organisme : Japan Society for the Promotion of Science
ID : JP15K06803
Organisme : Japan Society for the Promotion of Science
ID : JP18K06961
Organisme : Japan Society for the Promotion of Science
ID : JP19H05740
Organisme : Japan Society for the Promotion of Science
ID : JP22700867
Organisme : Japan Society for the Promotion of Science
ID : JP24613005
Organisme : Yamada science foundation
Informations de copyright
© 2021 The Authors. Genes to Cells published by Molecular Biology Society of Japan and John Wiley & Sons Australia, Ltd.
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