Questioned validity of Gene Expression Dysregulated Domains

Recently, in studies examining fibroblasts obtained from the tissues of one set of monozygotic twins (i.e. fetuses derived from the same egg) discordant for trisomy 21 (Down syndrome; DS), Letourneau reported the presence of a et al., defined pattern of dysregulation within specific genomic domains they referred to as ene xpression ysregulated omains (GEDDs). GEDDs were G E D D described as alternating segments of increased or decreased gene expression affecting all chromosomes. Strikingly, GEDDs in fibroblasts were largely conserved in induced pluripotent cells (iPSCs) generated from the twin’s fibroblasts as well as in fibroblasts from the Ts65Dn mouse model of DS. Our recent analysis failed to find GEDDs. We reexamined the human iPSCs RNAseq data from Letourneau , and data from this same research group et al. published earlier examining iPSCs from the same monozygotic twins. An independent analysis of RNAseq data from Ts65Dn fibroblasts also failed to confirm presence of GEDDs. Our analysis questions the validity of GEDDs in DS. This article is included in the Preclinical gateway. Reproducibility and Robustness Associated Editorial » Do L and Mobley W Single Figure Publications: Towards a novel alternative format for scholarly communication, 2015, :268 F1000Research 4 (doi: 10.12688/f1000research.6742.1) Nishant Singhal ( ) Corresponding author: [email protected] The authors declare no competing financial interests. Competing interests: Do LH, Mobley WC and Singhal N. How to cite this article: Questioned validity of Gene Expression Dysregulated Domains in Down's 2015, :269 (doi: ) Syndrome [version 1; referees: 2 approved] F1000Research 4 10.12688/f1000research.6735.1 © 2015 Do LH . This is an open access article distributed under the terms of the , which Copyright: et al Creative Commons Attribution Licence permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. NIH grants NS055371 and NS24054, Larry L. Hillblom Foundation, Lumind Foundation (formerly Down Syndrome Research Grant information: and Treatment Foundation), Research Down Syndrome, Thrasher Research Fund, Adler Foundation, and Alzheimer Association. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 17 Jul 2015, :269 (doi: ) First published: 4 10.12688/f1000research.6735.1 Referee Status: