DNA methylation: An epigenetic mark of cellular memory
Open accessAbstract
DNA methylation is a stable epigenetic mark that can be inherited through multiple cell divisions. During development and cell differentiation, DNA methylation is dynamic, but some DNA methylation patterns may be retained as a form of epigenetic memory. DNA methylation profiles can be useful for the lineage classification and quality control of stem cells such as embryonic stem cells, induced pluripotent cells and mesenchymal stem cells. During cancer initiation and progression, genome-wide and gene-specific DNA methylation changes occur as a consequence of mutated or deregulated chromatin regulators. Early aberrant DNA methylation states occurring during transformation appear to be retained during tumor evolution. Similarly, DNA methylation differences among different regions of a tumor reflect the history of cancer cells and their response to the tumor microenvironment. Therefore, DNA methylation can be a useful molecular marker for cancer diagnosis and drug treatment. Profiling changes to DNA modification in cells over time may help scientists create personalised cancer treatments. Gene expression can be controlled by the addition of methyl groups to DNA without any change in DNA sequence. This process is vital to healthy cell development, but scientists now know that abnormal DNA methylation plays a role in the progression of diseases like cancer. Joseph Costello at the University of California and Mirang Kim at the Korea Research Institute of Bioscience and Biotechnology reviewed understanding of DNA methylation and showed how cells retain some DNA methylation patterns as a form of memory. This means that the origins of faulty methylation states can be traced in individual tumor cells. Tracking these methylation patterns may help researchers unravel the history of individual tumors, and could inform personalised therapies.
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70% of the promoters of total protein-coding genes are associated with CpG islands, and most of these sequences are demethylated.
“On the other hand, 70% of the promoters of the total protein-coding genes are associated with CpG islands, and most of these sequences are demethylated [54].”
From Revisiting Epigenetics Fundamentals and Its Biomedical Implications (2024) · cites this paper as [54]
The DNA methylation section says approximately 70% of annotated gene promoters are associated with CpG islands and that these islands are largely resistant to DNA methylation. It does not specify protein-coding genes as the denominator for the 70% figure. (LLM, conf=0.83)
Experimental — accuracy not yet measuredIn the human genome, between 60% and 80% of the total CpG dinucleotide content (29 million sites) is methylated.
“Interestingly, in the human genome, between 60% and 80% of the total CpG dinucleotide content (29 million sites) is methylated, and these sites are associated with repetitive sequences, transposable elements, and tissue-specific gene promoters.”
From Revisiting Epigenetics Fundamentals and Its Biomedical Implications (2024) · cites this paper as [54]
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- Authors
- Kim, M., & Costello, J.
- Affiliations
- Korea Research Institute of Bioscience and Biotechnology (KR)
- University of California, San Francisco (US)
- Corresponding author
- Costello, Joseph
- Venue
- Experimental & Molecular Medicine
- Published
- 2017-04-28
- Volume
- 49
- Issue
- 4
- Pages
- e322-e322
- ISSN
- 1226-3613 (ISSN-L)
- 2092-6413
- PMC
- PMC6130213
- OpenAlex
- W2609789137
- Cited by
- 450
- References
- 139
- Citations by year
- 2026: 44 · 2025: 62 · 2024: 71 · 2023: 63 · 2022: 49 · 2021: 58 · 2020: 50 · 2019: 33 · 2018: 14 · 2017: 6
- FWCI
- 2.64
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Experimental & Molecular Medicine (publishedVersion, cc-by-nc-nd)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- eScholarship (California Digital Library) (submittedVersion, cc-by-nc-nd)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- National Research Foundation
- Korea Research Institute of Bioscience and Biotechnology
- National Research Foundation of Korea
- National Institutes of Health
- National Cancer Institute (R01CA169316, P50CA097257)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Keywords
- DNA methylation, epigenetic memory, embryonic stem cells, induced pluripotent stem cells, mesenchymal stem cells, cancer epigenetics, tumor heterogeneity, tumor microenvironment, cancer diagnosis, precision oncology, chromatin regulators, cell differentiation
- MeSH terms
- Animals, Humans, Stem Cells, DNA Methylation, Epigenesis, Genetic, Cellular Reprogramming
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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