Human subtelomeric DNA methylation: regulation and roles in telomere function.
Author: Toubiana S1, Selig S2
Affiliation:
1Molecular Medicine Laboratory, Rambam Health Care Campus and Rappaport Faculty of Medicine, Technion, Haifa 31096, Israel.
2Molecular Medicine Laboratory, Rambam Health Care Campus and Rappaport Faculty of Medicine, Technion, Haifa 31096, Israel. Electronic address: seligs@technion.ac.il.
Conference/Journal: Curr Opin Genet Dev.
Date published: 2020 Feb 25
Other:
Volume ID: 60 , Pages: 9-16 , Special Notes: doi: 10.1016/j.gde.2020.02.004. [Epub ahead of print] , Word Count: 121
Subtelomeres are the regions at chromosome ends, immediately adjacent to the terminal telomeric repeats. The majority of human subtelomeres are CpG-rich in their distal two kilobases, and are methylated during early embryonic development by the de novo DNA methyltransferase DNMT3B. The biological relevance of subtelomeric DNA methylation is highlighted by the presence of promoters for the long non-coding TERRA transcripts in these CpG-rich regions. Indeed, deviant subtelomeric methylation has been linked with abnormal telomeric phenotypes, as most strikingly found in ICF syndrome. Here we review recent studies that explore new aspects of subtelomeric methylation regulation and demonstrate the significance of maintaining proper DNA methylation at the extreme distal human subtelomeric regions.
Copyright © 2020. Published by Elsevier Ltd.
PMID: 32109830 DOI: 10.1016/j.gde.2020.02.004
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