Trisomy 21 consistently activates the interferon response
Open accessAbstract
Although it is clear that trisomy 21 causes Down syndrome, the molecular events acting downstream of the trisomy remain ill defined. Using complementary genomics analyses, we identified the interferon pathway as the major signaling cascade consistently activated by trisomy 21 in human cells. Transcriptome analysis revealed that trisomy 21 activates the interferon transcriptional response in fibroblast and lymphoblastoid cell lines, as well as circulating monocytes and T cells. Trisomy 21 cells show increased induction of interferon-stimulated genes and decreased expression of ribosomal proteins and translation factors. An shRNA screen determined that the interferon-activated kinases JAK1 and TYK2 suppress proliferation of trisomy 21 fibroblasts, and this defect is rescued by pharmacological JAK inhibition. Therefore, we propose that interferon activation, likely via increased gene dosage of the four interferon receptors encoded on chromosome 21, contributes to many of the clinical impacts of trisomy 21, and that interferon antagonists could have therapeutic benefits.
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Both individuals with DS and mouse models of DS experience constitutive hyperactivation of interferon (IFN) signaling with signs of chronic inflammation and immune dysregulation, which could exacerbate the neuroinflammatory response.
“Notably, both individuals with DS and mouse models of DS experience constitutive hyperactivation of interferon (IFN) signaling with signs of chronic inflammation and immune dysregulation,30,31,32,33,34,35,36,37,38,39,40 that could exacerbate the neuroinflammatory response.”
From Interferon signaling modulates Down syndrome-associated Alzheimer’s disease pathology in a mouse model (2025) · cites this paper as [36]
The Results report IFN-response gene activation in a DS mouse model, and the Discussion describes widespread IFN-pathway activation in human trisomy 21 cells and relevance to mouse models with triplicated IFN receptors. The Discussion also links DS to inflammatory and autoimmune conditions, but does not establish signs of chronic inflammation and immune dysregulation in both individuals and mouse models. It proposes, rather than demonstrates, a neurological effect through microglial activation. (LLM, conf=0.83)
Experimental — accuracy not yet measuredTrisomy 21 causes widespread alterations in gene expression across the genome in multiple human cell types.
“we reported the results of transcriptome analyses of four different cell types obtained from people with and without T21, which demonstrated that T21 causes widespread alterations in gene expression across the genome”
From Trisomy 21 causes changes in the circulating proteome indicative of chronic autoinflammation (2017) · cites this paper as [17]
Trisomy 21 causes consistent activation of the interferon transcriptional response in human cells.
“including, most prominently, consistent activation of the interferon transcriptional response17”
From Trisomy 21 causes changes in the circulating proteome indicative of chronic autoinflammation (2017) · cites this paper as [17]
T21 impacts gene expression across the genome.
“However, unbiased analyses using omics technology have recently revealed that T21 impacts gene expression across the genome39,74,143,156–159.”
From Consequences of trisomy 21 for brain development in Down syndrome (2024) · cites this paper as [159]
People with DS present increased IFN signaling likely driven by triplication of four of the six IFN receptors encoded on HSA21, rather than by massive elevation of IFN ligands, and this has been associated with chronic immune dysregulation.
“people with DS present an increased IFN signaling likely driven by triplication of four of the six IFN receptors encoded on HSA21,36 rather than by massive elevation of the IFN ligands themselves as seen in interferonopathies,80 and this has been associated with chronic immune dysregulation.”
From Interferon signaling modulates Down syndrome-associated Alzheimer’s disease pathology in a mouse model (2025) · cites this paper as [36]
Accumulating evidence supports the classification of DS as a multisystem interferonopathy.
“Accumulating evidence supports the classification of DS as a multisystem interferonopathy (62, 63, 75).”
From Molecular and cellular processes disrupted in the early postnatal Down syndrome prefrontal cortex (2026) · cites this paper as [62]
Dysregulated interferon signaling is observed across multiple Ts21 organ systems.
“Given the dysregulated interferon signaling observed across multiple Ts21 organ systems (62, 63), we characterized the expression of interferon receptors, along with downstream interferon response genes.”
From Molecular and cellular processes disrupted in the early postnatal Down syndrome prefrontal cortex (2026) · cites this paper as [62]
Transcript levels for the analyzed acid hydrolases are comparable in 2N and DS fibroblasts.
“our RNA-Seq analyses, combined with previously published RNA-Seq data (Letourneau et al., 2014;Sullivan et al., 2016), showed transcript levels for the analyzed acid hydrolases to be comparable in 2N and DS fibroblasts”
From Lysosomal Dysfunction in Down Syndrome Is APP-Dependent and Mediated by APP-βCTF (C99) (2019) · cites this paper as Sullivan et al., 2016
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Self-citationAstrocytes in Down Syndrome Across the Lifespan
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Down syndrome is an oxidative phosphorylation disorder
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Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation
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JAK inhibition for treatment of psoriatic arthritis in Down syndrome
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Self-citationGlial interference: impact of type I interferon in neurodegenerative diseases
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FDA-Approved Kinase Inhibitors in Preclinical and Clinical Trials for Neurological Disorders
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JAK inhibition decreases the autoimmune burden in Down syndrome
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Self-citationDown Syndrome and Autoimmune Disease
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- Authors
- Sullivan, K. D., Lewis, H. C., Hill, A. A., Pandey, A., Jackson, L. P., Cabral, J. M., Smith, K. P., Liggett, L. A., Gomez, E. B., Galbraith, M. D., DeGregori, J., & Espinosa, J. M.
- Affiliations
- Howard Hughes Medical Institute (US)
- University of Colorado Anschutz (US)
- Linda Crnic Institute for Down Syndrome, University of Colorado School of Medicine, Aurora, United States
- Corresponding author
- Sullivan, Kelly D
- ORCID
- Venue
- eLife
- Publisher
- eLife Sciences Publications, Ltd
- Published
- 2016-07-29
- Volume
- 5
- ISSN
- 2050-084X (ISSN-L)
- PMC
- PMC5012864
- OpenAlex
- W2487528628
- Cited by
- 362
- References
- 88
- Citations by year
- 2026: 50 · 2025: 41 · 2024: 58 · 2023: 40 · 2022: 40 · 2021: 42 · 2020: 36 · 2019: 21 · 2018: 14 · 2017: 16 · 2016: 3 · 2015: 1
- FWCI
- 17.85
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- eLife (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- University of Colorado (Linda Crnic Institute for Down Syndrome)
- Howard Hughes Medical Institute
- National Institutes of Health (R01CA117907, P30CA046934-27)
- National Science Foundation (MCB-1243522)
- Anna and John J. Sie Foundation
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Life Sciences › Immunology and Microbiology › Immunology › interferon and immune responses
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Keywords
- Down syndrome, interferon signaling, interferon-stimulated genes, gene dosage, interferon receptor, JAK1, TYK2, ribosomal proteins, translation (biology), cell proliferation, shRNA screen, JAK inhibition, transcriptome
- MeSH terms
- Cells, Cultured, Down Syndrome, Fibroblasts, Humans, Immunity, Innate, Interferons, Monocytes, T-Lymphocytes, Gene Expression Profiling
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