ArticleNature genetics2023
Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model.
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Article in Nature genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers, 1 of them a synthesis that pooled it.
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73citing papers in PubMed, 1 pooled it
28.4field-weighted citation impact, top 1% of its field
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Who cites it
73 citing papers in PubMed, 1 synthesis or guideline pooled it, 98 citations in OpenAlex.
- Revisiting down syndrome through the lens of interferonopathy and innate immune dysregulation.Frontiers in immunology · 2026Pooled it
- Trial
- Spatially resolved multiomics of human meningeal development reveal lineage and disease dynamics.Nature cell biology · 2026Article
- Fasudil induces anti-inflammatory transcriptomic changes and increased proliferation in human trisomy 21 neural progenitor cells.Biology open · 2026Article
- Clinical considerations for immune dysregulation and immunodeficiency in Down syndrome.Journal of human immunity · 2026Review
- Immune dysregulation in children with Down syndrome: clinical implications and emerging therapies.Current opinion in rheumatology · 2026Review
- Progressive deterioration of adaptive immune repertoires in Down syndrome linked to interferon hyperactivity and lymphoid tissue disorganization.bioRxiv : the preprint server for biology · 2026Article
- Gene dosage imbalance disrupts systemic metabolism in the Dp16 Down syndrome mouse model.eLife · 2026Article
- Type I Interferon Signature is Associated With Lung Disease, Drug-Associated Immune Reactions, and Genetic Variation in Interferon-Linked Pathways in Still Disease.Arthritis & rheumatology (Hoboken, N.J.) · 2026Article
- Dysregulated calcium signaling underlies hyposalivation and microbial dysbiosis in Down syndrome.Cell reports · 2026Article
- RegRegSEA: a web server for regulatory region set enrichment analysis of epigenomic data.Nucleic acids research · 2026Article
- How I Treat: Immune dysregulation in Down syndrome.Journal of human immunity · 2026Review
- Promoting Research Excellence in Down Syndrome: Proceedings of the 5th International Conference of the Trisomy 21 Research Society.Neuromolecular medicine · 2026Article
- Altered Tonsillar Microbiome in Children with Down Syndrome and Obstructive Sleep Apnea.bioRxiv : the preprint server for biology · 2026Article
- Restoring RCAN1 dosage mitigates sleep and EEG abnormalities in a Down syndrome model.Neurobiology of disease · 2026Article
- Cancer Prevalence Among Large Cohort of Individuals With Down Syndrome: Implications for Screening Guidelines.Cancer medicine · 2026Article
- Systematic multi-omic deconvolution of the clinical heterogeneity of Down syndrome.Nature communications · 2026Article
- Molecular and cellular processes disrupted in the early postnatal Down syndrome prefrontal cortex.Science (New York, N.Y.) · 2026Article
- Loss of Proteostasis and Early-Onset Neurodegeneration in Down Syndrome: From Mechanisms to Interventions.Antioxidants (Basel, Switzerland) · 2026Review
- Precision medicine for Alzheimer's disease in Down syndrome.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
13 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
32 authors at 3 institutions in 1 country.
Katherine A WaughLinda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Ross MinterLinda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.ORCID 0000-0002-5437-5911
Jessica BaxterLinda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Congwu ChiDivision of Cardiology, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Matthew D GalbraithLinda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Kathryn D TuttleLinda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Neetha P EduthanLinda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Kohl T KinningLinda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.ORCID 0000-0002-4861-930X
Zdenek Andrysik *Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.ORCID 0000-0002-6723-6849
Paula Araya *Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Hannah Dougherty *Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Lauren N Dunn *Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.ORCID 0000-0001-5520-1561
Michael Ludwig *Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Kyndal A Schade *Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Dayna Tracy *Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Keith P SmithLinda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Ross E GranrathLinda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Nicolas BusquetAnimal Behavior Core, NeuroTechnology Center, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Santosh KhanalLinda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Ryan D AndersonDepartment of Oral and Craniofacial Sciences, University of Missouri-Kansas City, Kansas City, MO, USA.
Liza L CoxDepartment of Oral and Craniofacial Sciences, University of Missouri-Kansas City, Kansas City, MO, USA.
Belinda Enriquez EstradaLinda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Angela L RachubinskiLinda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.ORCID 0000-0003-1150-3976
Hannah R LyfordLinda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Eleanor C BrittonLinda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Katherine A FantauzzoDepartment of Craniofacial Biology, School of Dental Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.ORCID 0000-0003-0365-4168
David J OrlickyDepartment of Pathology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Jennifer L MatsudaDepartment of Immunology and Genomic Medicine, National Jewish Health, Denver, CO, USA.
Kunhua SongLinda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Timothy C CoxDepartment of Oral and Craniofacial Sciences, University of Missouri-Kansas City, Kansas City, MO, USA.ORCID 0000-0001-8015-5528
Kelly D SullivanLinda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. kelly.d.sullivan@cuanschutz.edu.ORCID 0000-0003-2725-0205
Joaquin M EspinosaLinda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. joaquin.espinosa@cuanschutz.edu.ORCID 0000-0001-9048-1941
University of Colorado Anschutz Medical Campus · USUniversity of Missouri–Kansas City · USNational Jewish Health · US
Funding
University of Colorado Cancer Center Support Grant - Lung Cancer Patient-Derived Xenografts with Autologous Human Immune SystemsP30CA046934 · NCI · UNIVERSITY OF COLORADO DENVER · PI James V Degregori · 1988 to 2026
$117.0MNIH Prior Approval Process ProfessionalUL1TR002535 · NCATS · UNIVERSITY OF COLORADO DENVER · PI SOKOL, RONALD J. · 2018 to 2022
$51.1MUniversity of Colorado Anschutz Medical Campus DRCP30DK116073 · NIDDK · UNIVERSITY OF COLORADO DENVER · PI LORI SUSSEL · 2020 to 2026
$10.8MTraining in Translational Research of Skin DiseasesT32AR007411 · NIAMS · UNIVERSITY OF COLORADO DENVER · PI ASGARI, MARYAM MANDANA, ROOP, DENNIS · 1986 to 2025
$4.8MMechanisms for cell signaling in the control of cardiomyogenesisR01HL133230 · NHLBI · UNIVERSITY OF SOUTH FLORIDA · PI Kunhua Song · 2016 to 2026
$4.2MTraining Program in Cancer BiologyT32CA190216 · NCI · UNIVERSITY OF COLORADO DENVER · PI Craig T. Jordan · 2016 to 2026
$3.5MUnderstanding Down Syndrome as an InterferonopathyR01AI150305 · NIAID · UNIVERSITY OF COLORADO DENVER · PI ESPINOSA, JOAQUIN M. · 2019 to 2020
$3.5MPre-clinical assessment of JAK inhibitors to ameliorate cytokine storms in Down syndromeR01AI145988 · NIAID · UNIVERSITY OF COLORADO DENVER · PI SULLIVAN, KELLY D. · 2019 to 2023
$2.2MRegulation of gene transcription and alternative splicing by a long non-coding RNAR01HL159086 · NHLBI · UNIVERSITY OF SOUTH FLORIDA · PI SONG, KUNHUA, VONDRISKA, THOMAS M. · 2022 to 2025
$2.1MCharacterization of PDGFR dimer-specific dynamics in the craniofacial mesenchymeR01DE027689 · NIDCR · UNIVERSITY OF COLORADO DENVER · PI FANTAUZZO, KATHERINE ANN · 2018 to 2022
$2.0MSrsf3-mediated alternative RNA splicing in craniofacial developmentR01DE030864 · NIDCR · UNIVERSITY OF COLORADO DENVER · PI Katherine Ann Fantauzzo · 2022 to 2026
$1.9MCharacterization of PDGFR dimer-specific dynamics in the craniofacial mesenchymeK02DE028572 · NIDCR · UNIVERSITY OF COLORADO DENVER · PI FANTAUZZO, KATHERINE ANN · 2019 to 2023
$627kNCATS NIH HHS UL1 TR002535NCI NIH HHS P30 CA046934NCI NIH HHS T32 CA190216NHLBI NIH HHS R01 HL133230NHLBI NIH HHS R01 HL159086NIAID NIH HHS R01 AI145988NIAID NIH HHS R01 AI150305NIAMS NIH HHS T32 AR007411NIDCR NIH HHS K02 DE028572NIDCR NIH HHS R01 DE027689NIDCR NIH HHS R01 DE030864NIDDK NIH HHS P30 DK116073
Abstract
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.
Indexed as
Down SyndromeHeart Defects, CongenitalAnimalsDisease Models, AnimalInterferonsMicePhenotypeReceptors, InterferonInterferonsReceptors, Interferon
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