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

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. Fisher () and Victor L. J. Tybulewicz ()
Additional contact information
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

Nature Communications, 2019, vol. 10, issue 1, 1-12

Abstract: 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.

Date: 2019
References: Add references at CitEc
Citations:

Downloads: (external link)
https://www.nature.com/articles/s41467-019-10129-9 Abstract (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:10:y:2019:i:1:d:10.1038_s41467-019-10129-9

Ordering information: This journal article can be ordered from
https://www.nature.com/ncomms/

DOI: 10.1038/s41467-019-10129-9

Access Statistics for this article

Nature Communications is currently edited by Nathalie Le Bot, Enda Bergin and Fiona Gillespie

More articles in Nature Communications from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().