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Questioned validity of Gene Expression Dysregulated Domains in Down's Syndrome

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 et al., ( )reported the presence of a defined pattern of dysregulation within specific genomic domai...

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Detalles Bibliográficos
Autores principales: Do, Long H., Mobley, William C., Singhal, Nishant
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000Research 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4654439/
https://www.ncbi.nlm.nih.gov/pubmed/26664707
http://dx.doi.org/10.12688/f1000research.6735.1
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author Do, Long H.
Mobley, William C.
Singhal, Nishant
author_facet Do, Long H.
Mobley, William C.
Singhal, Nishant
author_sort Do, Long H.
collection PubMed
description 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 et al., ( )reported the presence of a defined pattern of dysregulation within specific genomic domains they referred to as Gene Expression Dysregulated Domains (GEDDs). GEDDs were 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 et al., and data from this same research group 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.
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spelling pubmed-46544392015-12-09 Questioned validity of Gene Expression Dysregulated Domains in Down's Syndrome Do, Long H. Mobley, William C. Singhal, Nishant F1000Res Research Note 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 et al., ( )reported the presence of a defined pattern of dysregulation within specific genomic domains they referred to as Gene Expression Dysregulated Domains (GEDDs). GEDDs were 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 et al., and data from this same research group 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. F1000Research 2015-07-17 /pmc/articles/PMC4654439/ /pubmed/26664707 http://dx.doi.org/10.12688/f1000research.6735.1 Text en Copyright: © 2015 Do LH et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Note
Do, Long H.
Mobley, William C.
Singhal, Nishant
Questioned validity of Gene Expression Dysregulated Domains in Down's Syndrome
title Questioned validity of Gene Expression Dysregulated Domains in Down's Syndrome
title_full Questioned validity of Gene Expression Dysregulated Domains in Down's Syndrome
title_fullStr Questioned validity of Gene Expression Dysregulated Domains in Down's Syndrome
title_full_unstemmed Questioned validity of Gene Expression Dysregulated Domains in Down's Syndrome
title_short Questioned validity of Gene Expression Dysregulated Domains in Down's Syndrome
title_sort questioned validity of gene expression dysregulated domains in down's syndrome
topic Research Note
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4654439/
https://www.ncbi.nlm.nih.gov/pubmed/26664707
http://dx.doi.org/10.12688/f1000research.6735.1
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