The Role of Transposable Elements in Health and Diseases of the Central Nervous System
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First discovered in maize by Barbara McClintock in the 1940s, transposable elements (TEs) are DNA sequences that in some cases have the ability to move along chromosomes or “transpose” in the genome. This revolutionary finding was initially met with resistance by the scientific community and viewed by some as heretical. A large body of knowledge has accumulated over the last 60 years on the biology of TEs. Indeed, it is now known that TEs can generate genomic instability and reconfigure gene expression networks both in the germline and somatic cells. This review highlights recent findings on the role of TEs in health and diseases of the CNS, which were presented at the 2013 Society for Neuroscience meeting. The work of the speakers in this symposium shows that TEs are expressed and active in the brain, challenging the dogma that neuronal genomes are static and revealing that they are susceptible to somatic genomic alterations. These new findings on TE expression and function in the CNS have major implications for understanding the neuroplasticity of the brain, which could hypothetically have a role in shaping individual behavior and contribute to vulnerability to disease.
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L1 activity has been implicated in a variety of age-related disorders, including cancer and neurodegeneration.
“L1 activity has been implicated in a variety of age-related disorders12, including cancer7,13 and neurodegeneration14,15.”
From SIRT6 represses LINE1 retrotransposons by ribosylating KAP1 but this repression fails with stress and age (2014) · cites this paper as [14]
Several groups have independently detected elevated TE transcripts in human AD, adding to an intriguing phenomenon of TE dysregulation in neurodegenerative diseases.
“Several groups have independently detected elevated TE transcripts in human AD [122–124], adding to an intriguing phenomenon of TE dysregulation in neurodegenerative diseases [125–128].”
From What would it take to prove that a chronic infection is a causal agent in Alzheimer’s disease? (2025) · cites this paper as [128]
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- Authors
- Reilly, M. T., Faulkner, G. J., Dubnau, J., Ponomarev, I., & Gage, F. H.
- Affiliations
- Cold Spring Harbor Laboratory (US)
- The University of Texas at Austin (US)
- Salk Institute for Biological Studies (US)
- Venue
- The Journal of Neuroscience
- Publisher
- Society for Neuroscience
- Published
- 2013-11-06
- Volume
- 33
- Issue
- 45
- Pages
- 17577-17586
- ISSN
- 0270-6474 (ISSN-L)
- 1529-2401
- PMC
- PMC3818539
- OpenAlex
- W2170687235
- Cited by
- 175
- References
- 13
- Citations by year
- 2026: 8 · 2025: 12 · 2024: 8 · 2023: 5 · 2022: 11 · 2021: 17 · 2020: 13 · 2019: 17 · 2018: 21 · 2017: 17 · 2016: 15 · 2015: 16 · 2014: 14
- FWCI
- 1.61
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Journal of Neuroscience (publishedVersion, cc-by-nc-sa)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Cold Spring Harbor Laboratory Institutional Repository (Cold Spring Harbor Laboratory) (acceptedVersion)
- Funders
- National Institutes of Health (AA013517)
- Medical Research Council
- National Health and Medical Research Council (1045237, 1045991, 1042449)
- National Institute on Alcohol Abuse and Alcoholism (K01AA017234, AA013517, AA013476, U01AA013517, AA017234, U24AA013517, U01AA013476)
- National Institute of Mental Health (R01MH088485, R01MH095741)
- National Institute of Neurological Disorders and Stroke (R01NS067690)
- Telemedicine and Advanced Technology Research Center
- Topics
- Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- transposable elements, central nervous system, brain, gene expression networks, neuroplasticity, disease susceptibility
- MeSH terms
- Central Nervous System, Central Nervous System Diseases, DNA Transposable Elements, Humans, Genome
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