The DOI matches its Crossref record; 173 of the 173 references it cites were found in a registry or an index.
Heterochromatin: Guardian of the Genome
Open accessAbstract
Constitutive heterochromatin is a major component of the eukaryotic nucleus and is essential for the maintenance of genome stability. Highly concentrated at pericentromeric and telomeric domains, heterochromatin is riddled with repetitive sequences and has evolved specific ways to compartmentalize, silence, and repair repeats. The delicate balance between heterochromatin epigenetic maintenance and cellular processes such as mitosis and DNA repair and replication reveals a highly dynamic and plastic chromatin domain that can be perturbed by multiple mechanisms, with far-reaching consequences for genome integrity. Indeed, heterochromatin dysfunction provokes genetic turmoil by inducing aberrant repeat repair, chromosome segregation errors, transposon activation, and replication stress and is strongly implicated in aging and tumorigenesis. Here, we summarize the general principles of heterochromatin structure and function, discuss the importance of its maintenance for genome integrity, and propose that more comprehensive analyses of heterochromatin roles in tumorigenesis will be integral to future innovations in cancer treatment.
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“Mammalian species utilize a variety of mechanisms to keep retrotransposon activation in check”
From The Role of Retrotransposons and Endogenous Retroviruses in Age-Dependent Neurodegenerative Disorders (2024) · cites this paper as Janssen et al. 2018
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Metadata
- Authors
- Janssen, A., Colmenares, S. U., & Karpen, G. H.
- Affiliations
- Lawrence Berkeley National Laboratory (US)
- Corresponding author
- Karpen, Gary H.
- Venue
- Annual Review of Cell and Developmental Biology
- Publisher
- Annual Reviews
- Published
- 2018-10-06
- Volume
- 34
- Issue
- 1
- Pages
- 265-288
- ISSN
- 1081-0706 (ISSN-L)
- 1530-8995
- OpenAlex
- W2883831719
- Cited by
- 500
- References
- 173
- Citations by year
- 2026: 59 · 2025: 64 · 2024: 63 · 2023: 64 · 2022: 64 · 2021: 85 · 2020: 63 · 2019: 34 · 2018: 4
- FWCI
- 4.56
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Annual Review of Cell and Developmental Biology (publishedVersion)
- PubMed (publishedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- National Institutes of Health
- National Institute of General Medical Sciences (R01GM117420)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Chromosomal and Genetic Variations
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nuclear Structure and Function
- Keywords
- constitutive heterochromatin, genome stability, pericentromeric heterochromatin, telomeric heterochromatin, repetitive DNA, epigenetic silencing, chromosome segregation errors, transposon activation, replication stress, aging, carcinogenesis, cancer therapy
- MeSH terms
- Centromere, DNA Repair, Heterochromatin, Histones, Humans, Mitosis, Repetitive Sequences, Nucleic Acid, Telomere, Genome, Chromosome Segregation, Genomic Instability
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