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Gene expression dysregulation domains are not a specific feature of Down syndrome

Author

Listed:
  • Helena Ahlfors

    (GOSH NHS Foundation Trust)

  • Nneka Anyanwu

    (The Francis Crick Institute)

  • Edvinas Pakanavicius

    (The Francis Crick Institute)

  • Natalia Dinischiotu

    (The Francis Crick Institute)

  • Eva Lana-Elola

    (The Francis Crick Institute)

  • Sheona Watson-Scales

    (The Francis Crick Institute)

  • Justin Tosh

    (UCL Institute of Neurology)

  • Frances Wiseman

    (UCL Institute of Neurology)

  • James Briscoe

    (The Francis Crick Institute)

  • Karen Page

    (University College London)

  • Elizabeth M. C. Fisher

    (UCL Institute of Neurology)

  • Victor L. J. Tybulewicz

    (The Francis Crick Institute
    Imperial College)

Abstract

Down syndrome (DS), trisomy of human chromosome 21 (Hsa21), results in a broad range of phenotypes. A recent study reported that DS cells show genome-wide transcriptional changes in which up- or down-regulated genes are clustered in gene expression dysregulation domains (GEDDs). GEDDs were also reported in fibroblasts derived from a DS mouse model duplicated for some Hsa21-orthologous genes, indicating cross-species conservation of this phenomenon. Here we investigate GEDDs using the Dp1Tyb mouse model of DS, which is duplicated for the entire Hsa21-orthologous region of mouse chromosome 16. Our statistical analysis shows that GEDDs are present both in DS cells and in Dp1Tyb mouse fibroblasts and hippocampus. However, we find that GEDDs do not depend on the DS genotype but occur whenever gene expression changes. We conclude that GEDDs are not a specific feature of DS but instead result from the clustering of co-regulated genes, a function of mammalian genome organisation.

Suggested Citation

  • Helena Ahlfors & Nneka Anyanwu & Edvinas Pakanavicius & Natalia Dinischiotu & Eva Lana-Elola & Sheona Watson-Scales & Justin Tosh & Frances Wiseman & James Briscoe & Karen Page & Elizabeth M. C. Fishe, 2019. "Gene expression dysregulation domains are not a specific feature of Down syndrome," Nature Communications, Nature, vol. 10(1), pages 1-12, December.
    • Handle: RePEc:nat:natcom:v:10:y:2019:i:1:d:10.1038_s41467-019-10129-9
    DOI: 10.1038/s41467-019-10129-9
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