An extra copy of a chromosome region that includes four genes encoding interferon receptors contributes to immune dysregulation, heart malformations, developmental delays, cognitive deficits and craniofacial abnormalities in a mouse model of Down syndrome.
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Antonarakis, S. E. et al. Down syndrome. Nat. Rev. Dis. Primers 6, 9 (2020). A review article summarizing the current state of Down syndrome research.
Li, Z. et al. Duplication of the entire 22.9 Mb human chromosome 21 syntenic region on mouse chromosome 16 causes cardiovascular and gastrointestinal abnormalities. Hum. Mol. Genet. 16, 1359–1366 (2007). A paper describing the Dp16 mouse model of Down syndrome.
Tan, Y. H. et al. Human chromosome 21 dosage: effect on the expression of the interferon induced antiviral state. Science 186, 61–63 (1974). A pioneering paper demonstrating that cells with trisomy 21 are hypersensitive to interferon stimulation.
Maroun, L. E. Interferon action and chromosome 21 trisomy. J. Theor. Biol. 86, 603–606 (1980). An early review article on the potential role of interferon signaling in Down syndrome.
Sullivan, K. D. et al. Trisomy 21 consistently activates the interferon response. eLife 5, e162020 (2016). A paper describing consistent upregulation of interferon signaling in multiple immune and non-immune cell types with trisomy 21.
Waugh, K. B. et al. Mass cytometry reveals global immune remodelling with multilineage hypersensitivity to type I interferon in Down syndrome. Cell Rep. 29, 1893–1908 (2019). A paper demonstrating differences in major immune cell lineages, along with global hypersensitivity to interferon stimulation, in Down syndrome.
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This is a summary of: Waugh, K. A. et al. Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model. Nat. Genet. https://doi.org/10.1038/s41588-023-01399-7 (2023).
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Genes with immune functions modulate key traits associated with Down syndrome in mice. Nat Genet 55, 910–911 (2023). https://doi.org/10.1038/s41588-023-01400-3