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Comment
. 2016 Sep 6:5:e20196.
doi: 10.7554/eLife.20196.

Signaling a link between interferon and the traits of Down syndrome

Gina Kirsammer  1 , John D Crispino  1
Affiliations
Comment

Signaling a link between interferon and the traits of Down syndrome

Gina Kirsammer et al. Elife. .

Abstract

Elevated interferon signaling is a hallmark of Down syndrome.

Keywords: JAK inhibitors; chromosomes; down syndrome; genes; human; human biology; interferon; medicine; mouse; ruxolitinib; trisomy 21.

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Conflict of interest statement

The authors declare that no competing interests exist.

Figures

Figure 1.
Figure 1.. Interferon signaling is amplified by trisomy 21.
(A) Chromosome 21 encodes four types of interferon receptors. In cells with two copies of this chromosome (disomy 21), the binding of interferons to the receptors activates two kinases, JAK1and TYK2. These kinases activate the transcription factor STAT1, which then transcribes a set of genes known as interferon stimulated genes (ISGs). (B) In cells with three copies of chromosome 21 (trisomy 21), as in Down syndrome, the increased abundance of interferon receptors increases the transcription of ISGs, including the genes that encode interferons themselves. This ultimately leads to increased positive feedback and hyperactivated interferon signaling, which can damage the cell.
See this image and copyright information in PMC

Comment on

  • Trisomy 21 consistently activates the interferon response.
    Sullivan KD, Lewis HC, Hill AA, Pandey A, Jackson LP, Cabral JM, Smith KP, Liggett LA, Gomez EB, Galbraith MD, DeGregori J, Espinosa JM. Sullivan KD, et al. Elife. 2016 Jul 29;5:e16220. doi: 10.7554/eLife.16220. Elife. 2016. PMID: 27472900 Free PMC article.

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