Integrative analysis of epigenetics data identifies gene-specific regulatory elements.


Journal

Nucleic acids research
ISSN: 1362-4962
Titre abrégé: Nucleic Acids Res
Pays: England
ID NLM: 0411011

Informations de publication

Date de publication:
11 10 2021
Historique:
accepted: 07 09 2021
revised: 01 08 2021
received: 11 10 2020
pubmed: 12 9 2021
medline: 28 12 2021
entrez: 11 9 2021
Statut: ppublish

Résumé

Understanding how epigenetic variation in non-coding regions is involved in distal gene-expression regulation is an important problem. Regulatory regions can be associated to genes using large-scale datasets of epigenetic and expression data. However, for regions of complex epigenomic signals and enhancers that regulate many genes, it is difficult to understand these associations. We present StitchIt, an approach to dissect epigenetic variation in a gene-specific manner for the detection of regulatory elements (REMs) without relying on peak calls in individual samples. StitchIt segments epigenetic signal tracks over many samples to generate the location and the target genes of a REM simultaneously. We show that this approach leads to a more accurate and refined REM detection compared to standard methods even on heterogeneous datasets, which are challenging to model. Also, StitchIt REMs are highly enriched in experimentally determined chromatin interactions and expression quantitative trait loci. We validated several newly predicted REMs using CRISPR-Cas9 experiments, thereby demonstrating the reliability of StitchIt. StitchIt is able to dissect regulation in superenhancers and predicts thousands of putative REMs that go unnoticed using peak-based approaches suggesting that a large part of the regulome might be uncharted water.

Identifiants

pubmed: 34508352
pii: 6368526
doi: 10.1093/nar/gkab798
pmc: PMC8501997
doi:

Substances chimiques

Chromatin 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

10397-10418

Informations de copyright

© The Author(s) 2021. Published by Oxford University Press on behalf of Nucleic Acids Research.

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Auteurs

Florian Schmidt (F)

Cluster of Excellence for Multimodal Computing and Interaction, Saarland University, Saarland Informatics Campus, 66123 Saarbrücken, Germany.
Max Planck Institute for Informatics, Saarland Informatics Campus, 66123 Saarbrücken, Germany.
Graduate School of Computer Science, Saarland Informatics Campus, 66123 Saarbrücken, Germany.
Laboratory of Systems Biology and Data Analytics, Genome Institute of Singapore, 60 Biopolis Street, 138672 Singapore, Singapore.

Alexander Marx (A)

Cluster of Excellence for Multimodal Computing and Interaction, Saarland University, Saarland Informatics Campus, 66123 Saarbrücken, Germany.
Max Planck Institute for Informatics, Saarland Informatics Campus, 66123 Saarbrücken, Germany.
Graduate School of Computer Science, Saarland Informatics Campus, 66123 Saarbrücken, Germany.
International Max Planck Research School for Computer Science, Saarland Informatics Campus, 66123 Saarbrücken, Germany.

Nina Baumgarten (N)

Institute for Cardiovascular Regeneration, Goethe University, 60590 Frankfurt am Main, Germany.
German Center for Cardiovascular Research (DZHK), Partner site RheinMain, 60590 Frankfurt am Main, Germany.

Marie Hebel (M)

Institute of Biochemistry II, Goethe University Frankfurt - Medical Faculty, University Hospital, 60590 Frankfurt am Main, Germany.

Martin Wegner (M)

Institute of Biochemistry II, Goethe University Frankfurt - Medical Faculty, University Hospital, 60590 Frankfurt am Main, Germany.

Manuel Kaulich (M)

Institute of Biochemistry II, Goethe University Frankfurt - Medical Faculty, University Hospital, 60590 Frankfurt am Main, Germany.
Frankfurt Cancer Institute, Goethe University, 60590 Frankfurt am Main, Germany.

Matthias S Leisegang (MS)

German Center for Cardiovascular Research (DZHK), Partner site RheinMain, 60590 Frankfurt am Main, Germany.
Institute for Cardiovascular Physiology, Goethe University, 60590 Frankfurt am Main, Germany.

Ralf P Brandes (RP)

German Center for Cardiovascular Research (DZHK), Partner site RheinMain, 60590 Frankfurt am Main, Germany.
Institute for Cardiovascular Physiology, Goethe University, 60590 Frankfurt am Main, Germany.

Jonathan Göke (J)

Laboratory of Computational Transcriptomics, Genome Institute of Singapore, 60 Biopolis Street, 138672 Singapore, Singapore.

Jilles Vreeken (J)

CISPA Helmholtz Center for Information Security, Saarland Informatics Campus, 66123 Saarbrücken, Germany.
Cluster of Excellence for Multimodal Computing and Interaction, Saarland University, Saarland Informatics Campus, 66123 Saarbrücken, Germany.
Max Planck Institute for Informatics, Saarland Informatics Campus, 66123 Saarbrücken, Germany.

Marcel H Schulz (MH)

Cluster of Excellence for Multimodal Computing and Interaction, Saarland University, Saarland Informatics Campus, 66123 Saarbrücken, Germany.
Max Planck Institute for Informatics, Saarland Informatics Campus, 66123 Saarbrücken, Germany.
Institute for Cardiovascular Regeneration, Goethe University, 60590 Frankfurt am Main, Germany.
German Center for Cardiovascular Research (DZHK), Partner site RheinMain, 60590 Frankfurt am Main, Germany.

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Classifications MeSH