Human subtelomeric DNA methylation: regulation and roles in telomere function.
Curr Opin Genet Dev
; 60: 9-16, 2020 02.
Article
em En
| MEDLINE
| ID: mdl-32109830
ABSTRACT
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.
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Base de dados:
MEDLINE
Assunto principal:
Regulação Neoplásica da Expressão Gênica
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Telômero
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Metilação de DNA
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Homeostase do Telômero
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Neoplasias
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Israel