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Transcriptome Profiling Uncovers Potential Common Mechanisms in Fetal Trisomies 18 and 21
Human trisomies have recently been investigated using transcriptomics approaches to identify the gene expression (GE) signatures characteristic of each of these specific aneuploidy conditions. We hypothesized that the viability of cells with gross genomic imbalances might be associated with the acti...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Mary Ann Liebert, Inc.
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655413/ https://www.ncbi.nlm.nih.gov/pubmed/29049012 http://dx.doi.org/10.1089/omi.2017.0123 |
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author | Volk, Marija Maver, Aleš Hodžić, Alenka Lovrečić, Luca Peterlin, Borut |
author_facet | Volk, Marija Maver, Aleš Hodžić, Alenka Lovrečić, Luca Peterlin, Borut |
author_sort | Volk, Marija |
collection | PubMed |
description | Human trisomies have recently been investigated using transcriptomics approaches to identify the gene expression (GE) signatures characteristic of each of these specific aneuploidy conditions. We hypothesized that the viability of cells with gross genomic imbalances might be associated with the activation of resilience mechanisms that are common to different trisomies and that are reflected by specific shared GE patterns. We report in this article our microarray GE analyses of amniocytes from fetuses with viable trisomy conditions, trisomy 21 or trisomy 18, to detect such common expression signatures. Comparative analysis of significantly differentially expressed genes in trisomies 18 and 21 revealed six dysregulated genes common to both: OTUD5, ADAMTSL1, TADA2A, PPID, PIAS2, and MAPRE2. These genes are involved in ubiquitination, protein folding, cell proliferation, and apoptosis. Pathway-based enrichment analyses demonstrated that both trisomies showed dysregulation of the PI3K/AKT pathway, cell cycle G2/M DNA damage checkpoint regulation, and cell death and survival, as well as inhibition of the upstream regulator TP53. Our data collectively suggest that trisomies 18 and 21 share common functional GE signatures, implying that common mechanisms of resilience might be activated in aneuploid cells to resist large genomic imbalances. To the best of our knowledge, this is the first study to use global GE profiling data to identify potential common mechanisms in fetal trisomies. Studies of other trisomies using transcriptomics and multiomics approaches might further clarify mechanisms activated in trisomy syndromes. |
format | Online Article Text |
id | pubmed-5655413 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Mary Ann Liebert, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-56554132017-11-02 Transcriptome Profiling Uncovers Potential Common Mechanisms in Fetal Trisomies 18 and 21 Volk, Marija Maver, Aleš Hodžić, Alenka Lovrečić, Luca Peterlin, Borut OMICS Research Articles Human trisomies have recently been investigated using transcriptomics approaches to identify the gene expression (GE) signatures characteristic of each of these specific aneuploidy conditions. We hypothesized that the viability of cells with gross genomic imbalances might be associated with the activation of resilience mechanisms that are common to different trisomies and that are reflected by specific shared GE patterns. We report in this article our microarray GE analyses of amniocytes from fetuses with viable trisomy conditions, trisomy 21 or trisomy 18, to detect such common expression signatures. Comparative analysis of significantly differentially expressed genes in trisomies 18 and 21 revealed six dysregulated genes common to both: OTUD5, ADAMTSL1, TADA2A, PPID, PIAS2, and MAPRE2. These genes are involved in ubiquitination, protein folding, cell proliferation, and apoptosis. Pathway-based enrichment analyses demonstrated that both trisomies showed dysregulation of the PI3K/AKT pathway, cell cycle G2/M DNA damage checkpoint regulation, and cell death and survival, as well as inhibition of the upstream regulator TP53. Our data collectively suggest that trisomies 18 and 21 share common functional GE signatures, implying that common mechanisms of resilience might be activated in aneuploid cells to resist large genomic imbalances. To the best of our knowledge, this is the first study to use global GE profiling data to identify potential common mechanisms in fetal trisomies. Studies of other trisomies using transcriptomics and multiomics approaches might further clarify mechanisms activated in trisomy syndromes. Mary Ann Liebert, Inc. 2017-10-01 2017-10-01 /pmc/articles/PMC5655413/ /pubmed/29049012 http://dx.doi.org/10.1089/omi.2017.0123 Text en © Marija Volk, et al., 2017. Published by Mary Ann Liebert, Inc. This Open Access article is distributed under the terms of the Creative Commons Attribution Noncommercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited. |
spellingShingle | Research Articles Volk, Marija Maver, Aleš Hodžić, Alenka Lovrečić, Luca Peterlin, Borut Transcriptome Profiling Uncovers Potential Common Mechanisms in Fetal Trisomies 18 and 21 |
title | Transcriptome Profiling Uncovers Potential Common Mechanisms in Fetal Trisomies 18 and 21 |
title_full | Transcriptome Profiling Uncovers Potential Common Mechanisms in Fetal Trisomies 18 and 21 |
title_fullStr | Transcriptome Profiling Uncovers Potential Common Mechanisms in Fetal Trisomies 18 and 21 |
title_full_unstemmed | Transcriptome Profiling Uncovers Potential Common Mechanisms in Fetal Trisomies 18 and 21 |
title_short | Transcriptome Profiling Uncovers Potential Common Mechanisms in Fetal Trisomies 18 and 21 |
title_sort | transcriptome profiling uncovers potential common mechanisms in fetal trisomies 18 and 21 |
topic | Research Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655413/ https://www.ncbi.nlm.nih.gov/pubmed/29049012 http://dx.doi.org/10.1089/omi.2017.0123 |
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