Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model
Open accessAbstract
Down syndrome (DS), the genetic condition caused by trisomy 21, is characterized by variable cognitive impairment, immune dysregulation, dysmorphogenesis and increased prevalence of diverse co-occurring conditions. The mechanisms by which trisomy 21 causes these effects remain largely unknown. We demonstrate that triplication of the interferon receptor (IFNR) gene cluster on chromosome 21 is necessary for multiple phenotypes in a mouse model of DS. Whole-blood transcriptome analysis demonstrated that IFNR overexpression associates with chronic interferon hyperactivity and inflammation in people with DS. To define the contribution of this locus to DS phenotypes, we used genome editing to correct its copy number in a mouse model of DS, which normalized antiviral responses, prevented heart malformations, ameliorated developmental delays, improved cognition and attenuated craniofacial anomalies. Triplication of the Ifnr locus modulates hallmarks of DS in mice, suggesting that trisomy 21 elicits an interferonopathy potentially amenable to therapeutic intervention.
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The partial rescue of 5xFAD behavioral phenotypes in 5xFAD-Dp16 mice could be explained in part by Dp16 mice having impairment in motor coordination and associative learning and memory, ameliorating the cognitive profile observed in AD mice.
“this could be explained in part by the fact that Dp16 mice present an impairment in motor coordination, and associative learning and memory ameliorating the cognitive profile observed in AD mice.”
From Interferon signaling modulates Down syndrome-associated Alzheimer’s disease pathology in a mouse model (2025) · cites this paper as [38]
Split into 2 atoms — 1 confirmed, 1 partially supported, 0 disputed, 0 misattributed, 0 unverifiable. Expand the claim to see per-atom verdicts.
Experimental — accuracy not yet measuredThe raised levels of APOE are consistent with a growing body of data indicating that the neuroimmune system differs in people with DS.
“The raised levels of APOE are consistent with a growing body of data indicating that the neuroimmune system differs in people with DS [15, 34, 46, 51, 53, 66, 67].”
From Apolipoprotein E abundance is elevated in the brains of individuals with Down syndrome–Alzheimer’s disease (2025) · cites this paper as [66]
The Results section (‘Inflammatory markers correlate with IFNR expression’; page unavailable) reports altered inflammatory and interferon signatures in blood from people with Down syndrome. The Discussion also describes microglial activation and cognitive effects in a Down syndrome mouse model, but these passages do not establish a neuroimmune difference in people with Down syndrome specifically. The raised APOE levels are the citing authors’ observation, not a finding attributed to this source. (LLM, conf=0.81)
Experimental — accuracy not yet measuredDp16 mice exhibit impaired motor coordination at 3 and 5 months of age relative to WT littermates, with a trend toward poorer performance at 7 and 9 months of age.
“We next tested motor coordination using the accelerating rotarod test DS-AD mice (Data S4), and consistent with previous reports,38,40 we found that Dp16 mice exhibit impaired motor coordination at 3 and 5 months of age relative to WT littermates, with a trend toward poorer performance at 7 and 9 months of age (Figure 2A).”
From Interferon signaling modulates Down syndrome-associated Alzheimer’s disease pathology in a mouse model (2025) · cites this paper as [38]
Dp16 mice exhibit hyperactive IFN signaling and recapitulate many phenotypes of DS including developmental delays, cranial malformations, and cognitive deficits.
“Notably, Dp16 mice exhibit hyperactive IFN signaling and recapitulate many phenotypes of DS including developmental delays, cranial malformations, and cognitive deficits.38,40,42,43,44,45”
From Interferon signaling modulates Down syndrome-associated Alzheimer’s disease pathology in a mouse model (2025) · cites this paper as [38]
Dp16 mice showed less freezing behavior compared to WT mice after the second shock on day 1 in contextual fear conditioning.
“As previously reported,38,40 Dp16 mice showed less freezing behavior compared to WT mice after the second shock on day 1 (Figure 2B).”
From Interferon signaling modulates Down syndrome-associated Alzheimer’s disease pathology in a mouse model (2025) · cites this paper as [38]
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 [38]
Normalization of Ifnr copy number can rescue gene expression changes and hallmarks of DS in Dp16 mice.
“we demonstrated that normalization of Ifnr copy number can rescue gene expression changes and hallmarks of DS in Dp16 mice”
From Interferon signaling modulates Down syndrome-associated Alzheimer’s disease pathology in a mouse model (2025) · cites this paper as [38]
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 [75]
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Self-citationAccelerated Tempo of Cortical Neurogenesis in Down SyndromePreprint
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Yu, H., Liu, Y., Xu, F., Fu, Y., Yang, M., Ding, L., Wu, Y., Tang, F., Qiao, J., & Wen, L. (2024) · Cell Reports · doi:10.1016/j.celrep.2024.114586 · Cited by 1 · see citing works
Using Zebrafish to Study the Mechanisms That Underlie Down Syndrome
Moyer, A. J., & Thyme, S. B. (2025) · Springer eBooks · doi:10.1007/978-3-031-78611-2_6 · Cited by 1 · see citing works
Sadeghi, G., & Farjoo, M. H. (2025) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2025.111317 · Cited by 2 · see citing works
X-linked severe combined immunodeficiency with Down syndrome identified by newborn screening
Imanaka, Y., Asano, T., Noma, K., Sakura, F., Nishioka, N., Mizoguchi, Y., Kamiya, T., Kanegane, H., & Okada, S. (2025) · Journal of Human Immunity · doi:10.70962/jhi.20250057 · Cited by 1 · see citing works
Perspectives on the origin and therapeutic opportunities in Down syndrome-associated leukemia
Panchal, K., Armitage, J. D., Cheung, L. C., Kotecha, R. S., & Malinge, S. (2025) · Cancer and Metastasis Reviews · doi:10.1007/s10555-025-10291-1 · Cited by 1 · see citing works
Gene dosage imbalance disrupts systemic metabolism in the Dp16 Down syndrome mouse model
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.110476.3 · Cited by 1 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
Self-citationIshihara, K., Yasui, H., Harada, K., Amano, K., Saito, M., Kaneda, K., Katsuda, M., Kawashita, E., Hata, T., Annoura, R., et al. (2026) · Journal of Alzheimer s Disease · doi:10.1177/13872877261469121 · Cited by 1 · see citing works
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
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 · see citing works
Self-citationHuman genetic variation shapes the response of neurons to interferonsPreprint
Andzelm, M. M., Bolshakova, S., Pettinari, N. L., Tegtmeyer, M., Meyer, D., Johnson, A., Mello, C. J., Yu, C., Mazureac, I., Genovese, G., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.05.28.653507 · Cited by 1 · see citing works
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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 · see citing works
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
Recent Progress in Basic Research on Cardiovascular Diseases Associated with Down Syndrome
Ishida, H. (2023) · Japanese Society of Pediatric Cardiology and Cardiac Surgery · doi:10.9794/jspccs.39.200
Neurological Impact of Type I Interferon Dysregulation
Mylonas, A. (2024) · IntechOpen eBooks · doi:10.5772/intechopen.1006023
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
Author response: JAK inhibition decreases the autoimmune burden in Down syndrome
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.99323.1.sa0
Self-citationReviewer #3 (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.sa1
eLife Assessment: JAK inhibition decreases the autoimmune burden in Down syndrome
O’Shea, J. J. (2024) · eLife · doi:10.7554/elife.99323.1.sa4
Reviewer #2 (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.sa2
Mediator kinase inhibition suppresses hyperactive interferon signaling in Down syndromePreprint
Cozzolino, K., Sanford, L., Hunter, S., Molison, K., Erickson, B., Jones, T., Courvan, M. C., Ajit, D., Galbraith, M. D., Espinosa, J. M., et al. (2024) · eLife · doi:10.7554/elife.100197.1
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Li, M., Wang, S., Zhang, H., Meng, B., & Wu, Y. (2024) · Molecular Syndromology · doi:10.1159/000541266
Mediator kinase inhibition suppresses hyperactive interferon signaling in Down syndromePreprint
Cozzolino, K., Sanford, L., Hunter, S., Molison, K., Erickson, B., Courvan, M. C., Jones, T., Ajit, D., Galbraith, M. D., Espinosa, J. M., et al. (2025) · eLife · doi:10.7554/elife.100197.2
Self-citationHumanized Rodent Models of Down Syndrome
Reeves, R. H. (2025) · Springer eBooks · doi:10.1007/978-3-031-78611-2_3
Impact of Cre/LoxP-Mediated Chromosome Engineering Technology on Down Syndrome Research
Xing, Z., Douglas, A., Pao, A., Glass, T. J., Connor, N. P., & Yu, Y. E. (2025) · Springer eBooks · doi:10.1007/978-3-031-78611-2_2
NF-κB signaling directs a program of transient amplifications at innate immune response genesPreprint
Ludwig, M. P., Wilson, J. R., Galbraith, M. D., Bhandari, N., Dunn, L. N., Black, J. C., & Sullivan, K. D. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.03.11.641929
Self-citationMechanistic insights into Down syndrome comorbidities via convergent RNA-seq and TWAS signalsPreprint
Subirana-Granés, M., Zhang, H., Gupta, P., & Pividori, M. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.06.05.658129
Bartesaghi, R., Chen, X., Johnstone, A. D., Das, U., & Mobley, W. C. (2025) · Springer eBooks · doi:10.1007/978-3-031-89307-0_19
Pomi, F. L., Vaccaro, M., Vitale, M., Alaimo, R., & Borgia, F. (2025) · Acta Dermato Venereologica · doi:10.2340/actadv.v105.44081
Alterations in Resident Immune Cells in Prenatal Trisomy 21 Lungs
Frauenpreis, A., Bhattacharya, S., Belgacemi, R., Sokolskiy, P., Deutsch, G. H., Jendzjowsky, N. G., Glass, I. A., Mariani, T. J., Alam, D. A., & Danopoulos, S. (2025) · Cells · doi:10.3390/cells14231866
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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.110476.1
Restoring RCAN1 dosage mitigates sleep and EEG abnormalities in a Down syndrome model
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ORION: An agentic reasoning construct for the analysis of complex human immune profilingPreprint
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Precision medicine for Alzheimer's disease in Down syndrome
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RegRegSEA: a web server for regulatory region set enrichment analysis of epigenomic data
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- Authors
- Waugh, K. A., Minter, R., Baxter, J., Chi, C., Galbraith, M. D., Tuttle, K. D., Eduthan, N. P., Kinning, K. T., Andrysik, Z., Araya, P., Dougherty, H., Dunn, L. N., Ludwig, M., Schade, K. A., Tracy, D., Smith, K. P., Granrath, R. E., Busquet, N., Khanal, S., Anderson, R. D., Cox, L. L., Estrada, B. E., Rachubinski, A. L., Lyford, H. R., Britton, E. C., Fantauzzo, K. A., Orlicky, D. J., Matsuda, J. L., Song, K., Cox, T. C., Sullivan, K. D., & Espinosa, J. M.
- Affiliations
- University of Colorado Anschutz (US)
- University of Missouri–Kansas City (US)
- National Jewish Health (US)
- Corresponding author
- Sullivan, Kelly D.
- Espinosa, Joaquin M.
- ORCID
- Waugh, Katherine A.
- Minter, Ross
- Chi, Congwu
- Galbraith, Matthew D.
- Tuttle, Kathryn D.
- Eduthan, Neetha P.
- Kinning, Kohl T.
- Andrysik, Zdenek
- Araya, Paula
- Dunn, Lauren N.
- Ludwig, Michael
- Tracy, Dayna
- Smith, Keith P.
- Granrath, Ross E.
- Busquet, Nicolas
- Khanal, Santosh
- Cox, Liza L.
- Rachubinski, Angela L.
- Lyford, Hannah R.
- Fantauzzo, Katherine A.
- Orlicky, David J.
- Matsuda, Jennifer L.
- Song, Kunhua
- Cox, Timothy C.
- Sullivan, Kelly D.
- Espinosa, Joaquin M.
- Venue
- Nature Genetics
- Published
- 2023-06
- Volume
- 55
- Issue
- 6
- Pages
- 1034-1047
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC10260402
- OpenAlex
- W4379471068
- Cited by
- 117
- References
- 113
- Citations by year
- 2026: 40 · 2025: 38 · 2024: 32 · 2023: 7
- FWCI
- 30.46
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Nature Genetics (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- U.S. Department of Health & Human Services | NIH | National Institute of Allergy and Infectious Diseases (R01AI150305, R01AI145988)
- U.S. Department of Health & Human Services | NIH | National Cancer Institute (P30CA046934, T32CA190216)
- Global Down Syndrome Foundation (N/A)
- Human Immunology and Immunotherapy Initiative, GI & Liver Innate Immune Program
- U.S. Department of Health & Human Services | NIH | National Institute of Arthritis and Musculoskeletal and Skin Diseases (2T32AR007411)
- U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (R01HL133230)
- University of Colorado Department of Medicine Outstanding Early Career Scholar Program; The Gates Frontiers Fund.
- Stowers Family Endowed Chair in Dental and Mineralized Tissue Research
- Boettcher Foundation (N/A)
- U.S. Department of Health & Human Services | NIH | National Institute of Dental and Craniofacial Research (K02DE028572, R01DE030864)
- 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 › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Keywords
- Down syndrome, interferon receptor, triplication, interferonopathies, inflammation, antiviral response, cardiac anomalies, developmental delay, cognitive impairment, craniofacial anomalies, mouse model
- MeSH terms
- Animals, Disease Models, Animal, Down Syndrome, Heart Defects, Congenital, Interferons, Phenotype, Receptors, Interferon, Mice
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