| |  Online-Ressource |
|---|
| Verfasst von: | Haas, Jan [VerfasserIn]  |
|---|
| | Mester, Stefan [VerfasserIn] |
|---|
| | Lai, Chung Lun Alan [VerfasserIn] |
|---|
| | Frese, Karen S. [VerfasserIn] |
|---|
| | Sedaghat-Hamedani, Farbod [VerfasserIn] |
|---|
| | Kayvanpour, Elham [VerfasserIn] |
|---|
| | Rausch, Tobias [VerfasserIn] |
|---|
| | Nietsch, Rouven [VerfasserIn] |
|---|
| | Boeckel, Jes-Niels [VerfasserIn] |
|---|
| | Carstensen, Avisha [VerfasserIn] |
|---|
| | Völkers, Mirko [VerfasserIn] |
|---|
| | Amr, Ali [VerfasserIn] |
|---|
| | Holzer, Daniel Benjamin [VerfasserIn] |
|---|
| | Martins Bordalo, Diana [VerfasserIn] |
|---|
| | Oehler, Daniel [VerfasserIn] |
|---|
| | Weis, Tanja [VerfasserIn] |
|---|
| | Mereles, Derliz [VerfasserIn] |
|---|
| | Buß, Sebastian Johannes [VerfasserIn] |
|---|
| | Riechert, Eva [VerfasserIn] |
|---|
| | Korbel, Jan Oliver [VerfasserIn] |
|---|
| | Katus, Hugo [VerfasserIn] |
|---|
| | Meder, Benjamin [VerfasserIn] |
|---|
| Titel: | Genomic structural variations lead to dysregulation of important coding and non-coding RNA species in dilated cardiomyopathy |
|---|
| Verf.angabe: | Jan Haas, Stefan Mester, Alan Lai, Karen S Frese, Farbod Sedaghat-Hamedani, Elham Kayvanpour, Tobias Rausch, Rouven Nietsch, Jes-Niels Boeckel, Avisha Carstensen, Mirko Völkers, Carsten Dietrich, Dietmar Pils, Ali Amr, Daniel B Holzer, Diana Martins Bordalo, Daniel Oehler, Tanja Weis, Derliz Mereles, Sebastian Buss, Eva Riechert, Emil Wirsz, Maximilian Wuerstle, Jan O Korbel, Andreas Keller, Hugo A Katus, Andreas E Posch, Benjamin Meder |
|---|
| Jahr: | 2018 |
|---|
| Jahr des Originals: | 2017 |
|---|
| Umfang: | 14 S. |
|---|
| Fussnoten: | Published online14 November 2017 ; Gesehen am 15.08.2019 |
|---|
| Titel Quelle: | Enthalten in: European Molecular Biology OrganizationEMBO molecular medicine |
|---|
| Ort Quelle: | [London] : Nature Publishing Group UK, 2009 |
|---|
| Jahr Quelle: | 2018 |
|---|
| Band/Heft Quelle: | 10(2018), 1, Seite 107-120 |
|---|
| ISSN Quelle: | 1757-4684 |
|---|
| Abstract: | Abstract The transcriptome needs to be tightly regulated by mechanisms that include transcription factors, enhancers, and repressors as well as non-coding RNAs. Besides this dynamic regulation, a large part of phenotypic variability of eukaryotes is expressed through changes in gene transcription caused by genetic variation. In this study, we evaluate genome-wide structural genomic variants (SVs) and their association with gene expression in the human heart. We detected 3,898 individual SVs affecting all classes of gene transcripts (e.g., mRNA, miRNA, lncRNA) and regulatory genomic regions (e.g., enhancer or TFBS). In a cohort of patients (n = 50) with dilated cardiomyopathy (DCM), 80,635 non-protein-coding elements of the genome are deleted or duplicated by SVs, containing 3,758 long non-coding RNAs and 1,756 protein-coding transcripts. 65.3% of the SV-eQTLs do not harbor a significant SNV-eQTL, and for the regions with both classes of association, we find similar effect sizes. In case of deleted protein-coding exons, we find downregulation of the associated transcripts, duplication events, however, do not show significant changes over all events. In summary, we are first to describe the genomic variability associated with SVs in heart failure due to DCM and dissect their impact on the transcriptome. Overall, SVs explain up to 7.5% of the variation of cardiac gene expression, underlining the importance to study human myocardial gene expression in the context of the individual genome. This has immediate implications for studies on basic mechanisms of cardiac maladaptation, biomarkers, and (gene) therapeutic studies alike. |
|---|
| DOI: | doi:10.15252/emmm.201707838 |
|---|
| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext: https://doi.org/10.15252/emmm.201707838 |
|---|
| | Volltext: https://www.embopress.org/doi/full/10.15252/emmm.201707838 |
|---|
| | DOI: https://doi.org/10.15252/emmm.201707838 |
|---|
| Datenträger: | Online-Ressource |
|---|
| Sprache: | eng |
|---|
| Sach-SW: | cardiac transcriptome |
|---|
| | dilated cardiomyopathy |
|---|
| | expression quantitative trait locus |
|---|
| | genomic structural variation |
|---|
| | heart failure |
|---|
| K10plus-PPN: | 1671457455 |
|---|
| Verknüpfungen: | → Zeitschrift |
|---|
Genomic structural variations lead to dysregulation of important coding and non-coding RNA species in dilated cardiomyopathy / Haas, Jan [VerfasserIn]; 2018 (Online-Ressource)
