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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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“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]
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“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]
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“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]
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“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]
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“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]
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“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]
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“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]
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“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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Cites
Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2
Love, M. I., Huber, W., & Anders, S. (2014) · Genome Biology · doi:10.1186/s13059-014-0550-8 · Cited by 95,106
The Sequence Alignment/Map format and SAMtools
Li, H., Handsaker, B., Wysoker, A., Fennell, T., Ruan, J., Homer, N., Marth, G., Abecasis, G., Durbin, R., & 1000 Genome Project Data Processing Subgroup (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp352 · Cited by 62,041
HTSeq—a Python framework to work with high-throughput sequencing data
Anders, S., Pyl, P. T., & Huber, W. (2015) · Bioinformatics · doi:10.1093/bioinformatics/btu638 · Cited by 21,464
Kim, D., Pertea, G., Trapnell, C., Pimentel, H., Kelley, R., & Salzberg, S. L. (2013) · Genome Biology · doi:10.1186/gb-2013-14-4-r36 · Cited by 12,668
Causal analysis approaches in Ingenuity Pathway Analysis
Krämer, A., Green, J., Pollard, J., & Tugendreich, S. (2014) · Bioinformatics · doi:10.1093/bioinformatics/btt703 · Cited by 5,724
RSeQC: quality control of RNA-seq experiments
Wang, L., Wang, S., & Li, W. (2012) · Bioinformatics · doi:10.1093/bioinformatics/bts356 · Cited by 2,753
A diverse range of gene products are effectors of the type I interferon antiviral response
Schoggins, J. W., Wilson, S. J., Panis, M., Murphy, M. Y., Jones, C. T., Bieniasz, P. D., & Rice, C. M. (2011) · Nature · doi:10.1038/nature09907 · Cited by 2,412
WebGestalt: an integrated system for exploring gene sets in various biological contexts
Zhang, B., Kirov, S. A., & Snoddy, J. R. (2005) · Nucleic Acids Research · doi:10.1093/nar/gki475 · Cited by 1,803
WEB-based GEne SeT AnaLysis Toolkit (WebGestalt): update 2013
Wang, J., Duncan, D. T., Shi, Z., & Zhang, B. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt439 · Cited by 1,512
Type I interferons in anticancer immunity
Zitvogel, L., Galluzzi, L., Kepp, O., Smyth, M. J., & Kroemer, G. (2015) · Nature Reviews Immunology · doi:10.1038/nri3845 · Cited by 1,305
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Marentette, J., Anderson, C. C., Prutton, K. M., Jennings, E. Q., Rauniyar, A. K., Galligan, J. J., & Roede, J. R. (2021) · Prostaglandins & Other Lipid Mediators · doi:10.1016/j.prostaglandins.2020.106524 · Cited by 8
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Kirsammer, G. T., & Crispino, J. D. (2016) · eLife · doi:10.7554/elife.20196 · Cited by 6
McClure‐Begley, T. D., Ebmeier, C. C., Ball, K. A., Jacobsen, J. R., Kogut, I., Bilousova, G., Klymkowsky, M. W., & Old, W. M. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/315317 · Cited by 6
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Cheng, P., Singh, K., Reeves, R. H., & Davoli, T. (2025) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-111723-103557 · Cited by 6
Aliashrafzadeh, H., Liu, D., Alba, S. D., Akbar, I., Lui, A., Vanleuven, J., Martin, R. M., Wang, Z., & Liu, D. (2025) · Exploration of Drug Science · doi:10.37349/eds.2025.1008116 · Cited by 5
Eduthan, N. P., Donovan, M. G., Araya, P., Rachubinski, A. L., Sullivan, K. D., Galbraith, M. D., & Espinosa, J. M. (2025) · Nature Communications · doi:10.1038/s41467-025-63862-9 · Cited by 5
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Anderson, S., Jin, R. M., & Molofsky, A. V. (2025) · Biological Psychiatry · doi:10.1016/j.biopsych.2025.10.023 · Cited by 4
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Bhattacharya, S., Frauenpreis, A., Cherry, C. L., Deutsch, G. H., Glass, I. A., Mariani, T. J., Alam, D. A., & Danopoulos, S. (2025) · American Journal of Respiratory Cell and Molecular Biology · doi:10.1165/rcmb.2025-0217oc · Cited by 5
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Gally, F., Rao, D. M., Schmitz, C., Colvin, K. L., Yeager, M. E., & Perraud, A. (2017) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2017.09.025 · Cited by 5
Down syndrome, severe psoriasis, and increased risk for cardiovascular events
Sismour, B., & DʼAcunto, K. (2019) · JAAPA · doi:10.1097/01.jaa.0000604860.71819.c1 · Cited by 5
Ahmed, M. M., Wang, A. C.-J., Elos, M. T., Chial, H. J., Sillau, S. H., Solano, D., Coughlan, C. M., Aghili, L., Anton, P., Markham, N., et al. (2021) · bioRxiv · doi:10.1101/2021.07.04.451073 · Cited by 2
Vaiasicca, S., Melone, G., James, D. W., Quintela, M., Preziuso, A., Finnell, R. H., Conlan, R. S., Francis, L. W., & Corradetti, B. (2023) · Stem Cell Research & Therapy · doi:10.1186/s13287-023-03503-4 · Cited by 4
Guo, Z., Xiao, H., Yang, W., Li, T., Hao, B., & Liao, S. (2023) · Aging · doi:10.18632/aging.205291 · Cited by 5
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Su, D., Peters, M. A., Soltys, V., & Chan, Y. F. (2025) · BMC Genomics · doi:10.1186/s12864-025-11442-y · Cited by 5
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Kutasi, E., Chiş, A., Vințan, M. A., Alkhzouz, C., Văduva, D. A., Catana, A. M., & Vulturar, R. (2025) · Molecular Neurobiology · doi:10.1007/s12035-025-05245-1 · Cited by 5
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Silva, A. L. T. E., de Oliveira, P. H. P., Yokota-Moreno, B. Y., Fausto, J. D. S., Avila, J. P., Nakaya, H. I., Sertie, A. L., & Zampieri, B. L. (2025) · Acta Neuropathologica Communications · doi:10.1186/s40478-025-02090-0 · Cited by 5
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Hack, T., Bertram, S., Blair, H., Börger, V., Büsche, G., Denson, L., Fruth, E., Giebel, B., Heidenreich, O. T., Klein–Hitpass, L., et al. (2020) · Molecular Cancer Research · doi:10.1158/1541-7786.mcr-20-0091 · Cited by 3
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How I Treat: Immune dysregulation in Down syndrome
Gans, M. D., Wyke, M., Somay, K., Thorson, W. L., & Bogunovic, D. (2026) · Journal of Human Immunity · doi:10.70962/jhi.20250161 · Cited by 1
Posey, J. N., Jordan, M., Olsen-Dufour, A., Nguyen, T.-T. N., Farrell, C., Lewis, C., Archambault, J. L., Sul, C., Colon-Hidalgo, D., Nozik‐Grayck, E., et al. (2026) · Frontiers in Immunology · doi:10.3389/fimmu.2026.1832057 · Cited by 1
Self-citationClinical considerations for immune dysregulation and immunodeficiency in Down syndrome
Gans, M. D., Camacho, J. V., Wyke, M., Manothummetha, K., Lesmana, H. L., Squire, J. D., Lopes, J. P. M., Schmitt, E. G., Ale, H., Shin, J. J., et al. (2026) · Journal of Human Immunity · doi:10.70962/jhi.20260052 · Cited by 1
Self-citationKlemann, C., & Kordonouri, O. (2026) · Diabetes Care · doi:10.2337/dc26-0543 · Cited by 1
The pathophysiology and management of xerosis and mouth conditions in patients with trisomy 21
Piquero‐Casals, J., Baldrich, N. S., Rozas‐Muñoz, E., & de Monserrat, R. (2017) · International Medical Review on Down Syndrome · doi:10.1016/j.sdeng.2017.10.001 · Cited by 1
Fisiopatología y manejo de la xerosis y alteraciones orales en pacientes con trisomía 21
Piquero‐Casals, J., Baldrich, N. S., Rozas‐Muñoz, E., & de Monserrat, R. (2017) · Revista Médica Internacional sobre el Síndrome de Down · doi:10.1016/j.sd.2017.10.001 · Cited by 1
Patel, L., Esbensen, A. J., & Sannar, E. M. (2020) · International review of research in developmental disabilities · doi:10.1016/bs.irrdd.2020.07.004 · Cited by 1
Integrated Quantitative Neuro-Transcriptome Analysis of Several Brain Areas in Human Trisomy 21
Rodríguez-Ortiz, A., Montoya-Villegas, J. C., Sánchez, A., Soto, J. M. S., Mina-Paz, Y., & García‐Vallejo, F. (2022) · Genes · doi:10.3390/genes13040628 · Cited by 1
Genetic and Molecular Tools for the Clinical Diagnosis of Down Syndrome
Vela, M. P. M., Vela, D. R. M., Mancheno, A. C. F., & Chávez, M. V. P. (2024) · Salud Ciencia y Tecnología · doi:10.56294/saludcyt20251027 · Cited by 1
Salemi, M., Rappazzo, G., Ridolfo, F., Salluzzo, M. G., Cannarella, R., Castiglione, R., Caniglia, S., Tirolo, C., Calogero, A. E., & Romano, C. (2020) · All Life · doi:10.1080/26895293.2020.1832922 · Cited by 1
Colvin, K. L., Elliott, R. J., Goodman, D. M., Harral, J. W., Barrett, E. G., & Yeager, M. E. (2023) · FASEB BioAdvances · doi:10.1096/fba.2023-00091
Rossi, F. A., Steinberg, J. H. E., Calvo-Roitberg, E., Joshi, M. U., Pandey, A., Abba, M. C., Dufrusine, B., Buglioni, S., Laurenzi, V. D., Sala, G., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.07.01.181883 · Cited by 1
Self-citationJin, M., Xu, R., Wang, L., Alam, M. M., Ma, Z., Zhu, S., Martini, A. C., Jadali, A., Bernabucci, M., Xie, P., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.12.22.473858 · Cited by 1
Cardiello, J. F., Westfall, J., Dowell, R. D., & Allen, M. A. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.01.17.524431 · Cited by 1
JAK inhibition decreases the autoimmune burden in Down syndromePreprint
Rachubinski, A. L., Wallace, E. B., Gurnee, E., Estrada, B. A. E., Worek, K. R., Smith, K. P., Araya, P., Waugh, K. A., Granrath, R. E., Britton, E. C., et al. (2024) · eLife · doi:10.7554/elife.99323.2 · Cited by 1
Self-citationLee, S. N., Banda, E. C., Qiao, L., Thompson, S. L., Singh, K., Hagenson, R. A., Davoli, T., Pinter, S. F., & Sheltzer, J. M. (2026) · Genome Research · doi:10.1101/gr.280425.125 · Cited by 1
Gene dosage imbalance disrupts systemic metabolism in the Dp16 Down syndrome mouse modelPreprint
Chen, F., Saqib, M., Nguyen, C. M., Sarver, D. C., Yu, Y. E., Aja, S. M., Seldin, M. M., & Wong, G. W. (2026) · eLife · doi:10.7554/elife.110476 · Cited by 1
Fisiopatologia i tractament de la xerosi i les alteracions orals en pacients amb trisomia 21
Piquero‐Casals, J., Baldrich, N. S., Rozas‐Muñoz, E., & de Monserrat, R. (2017) · International Medical Review on Down Syndrome · doi:10.1016/j.sdcat.2017.11.001
Pooled functional genomic screens for intracellular calcium effectorsPreprint
Rao, A. N., & Kralj, J. M. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/434910
BDdb: a comprehensive platform for exploration and utilization of birth defect multi-omics dataPreprint
Zhang, D., Sun, H., Zhou, Z., Jiang, X., Chen, D., Zhou, S., Huang, J., Qu, S., Gu, Y., Zhang, X., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.07.20.211391
Rodríguez-Ortiz, A., Villegas, J. C. M., Sánchez, A., Soto, J. M. S., Mina-Paz, Y., & García‐Vallejo, F. (2021) · Research Square · doi:10.21203/rs.3.rs-176627/v1
Lambert, K., Moo, K. G., Arnett, A., Goel, G., Flynn, K. J., Speake, C., WIEDEMAN, A. E., Greenbaum, C. J., Long, S. A., Partridge, R., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.09.13.460115
Gene-dosage imbalance due to trisomic HSA21 and genotype–phenotype association in Down syndrome
Ganguly, B. B. (2022) · Elsevier eBooks · doi:10.1016/b978-0-323-90456-8.00005-3
Polymorphic rupioid psoriasis with chamomile‐like lesions: A case report
Aromolo, I. F., Riva, D., Cattaneo, A., Carrera, C. G., Spigariolo, C. B., & Marzano, A. V. (2023) · Journal of the European Academy of Dermatology and Venereology · doi:10.1111/jdv.18888
Congenital heart defects in Down syndrome are caused by increased dosage of DYRK1APreprint
Lana‐Elola, E., Aoidi, R., Llorian, M., Gibbins, D., Buechsenschuetz, C. L., Bussi, C., Flynn, H. R., Gilmore, T., Watson-Scales, S., Hansen, M. H., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.09.18.558244
Partial loss of Sorting Nexin 27 resembles age- and Down syndrome-associated T cell dysfunctions
Rodríguez‐Rodríguez, C., González-Mancha, N., Ochoa-Echeverría, A., Liébana, R., & Mérida, I. (2024) · Immunity & Ageing · doi:10.1186/s12979-023-00402-3
Vaiasicca, S., Melone, G., James, D. W., Quintela, M., Preziuso, A., Finnell, R. H., Conlan, R. S., Francis, L. W., & Corradetti, B. (2023) · Figshare · doi:10.6084/m9.figshare.24186068
Vaiasicca, S., Melone, G., James, D. W., Quintela, M., Preziuso, A., Finnell, R. H., Conlan, R. S., Francis, L. W., & Corradetti, B. (2023) · Figshare · doi:10.6084/m9.figshare.24186062
Vaiasicca, S., Melone, G., James, D. W., Quintela, M., Preziuso, A., Finnell, R. H., Conlan, R. S., Francis, L. W., & Corradetti, B. (2023) · Figshare · doi:10.6084/m9.figshare.24186065
Vaiasicca, S., Melone, G., James, D. W., Quintela, M., Preziuso, A., Finnell, R. H., Conlan, R. S., Francis, L. W., & Corradetti, B. (2023) · Figshare · doi:10.6084/m9.figshare.24186056
Reviewer #1 (Public Review): JAK inhibition decreases the autoimmune burden in Down syndrome
Rachubinski, A. L., Wallace, E., Gurnee, E., et al. (2024) · eLife · doi:10.7554/elife.99323.1.sa3
Metadata
- 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
- 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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