Multi-omics and machine learning reveal context-specific gene regulatory activities of PML::RARA in acute promyelocytic leukemia

<p dir="ltr">The PML::RARA fusion protein is the hallmark driver of Acute Promyelocytic Leukemia (APL) and disrupts retinoic acid signaling, leading to wide-scale gene expression changes and uncontrolled proliferation of myeloid precursor cells. While known to be recruited to binding...

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Main Author: William Villiers (19482292) (author)
Other Authors: Audrey Kelly (7671395) (author), Xiaohan He (9204173) (author), James Kaufman-Cook (19482295) (author), Abdurrahman Elbasir (9977355) (author), Halima Bensmail (10400) (author), Paul Lavender (7671401) (author), Richard Dillon (9149324) (author), Borbála Mifsud (19482298) (author), Cameron S. Osborne (7244990) (author)
Published: 2023
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author William Villiers (19482292)
author2 Audrey Kelly (7671395)
Xiaohan He (9204173)
James Kaufman-Cook (19482295)
Abdurrahman Elbasir (9977355)
Halima Bensmail (10400)
Paul Lavender (7671401)
Richard Dillon (9149324)
Borbála Mifsud (19482298)
Cameron S. Osborne (7244990)
author2_role author
author
author
author
author
author
author
author
author
author_facet William Villiers (19482292)
Audrey Kelly (7671395)
Xiaohan He (9204173)
James Kaufman-Cook (19482295)
Abdurrahman Elbasir (9977355)
Halima Bensmail (10400)
Paul Lavender (7671401)
Richard Dillon (9149324)
Borbála Mifsud (19482298)
Cameron S. Osborne (7244990)
author_role author
dc.creator.none.fl_str_mv William Villiers (19482292)
Audrey Kelly (7671395)
Xiaohan He (9204173)
James Kaufman-Cook (19482295)
Abdurrahman Elbasir (9977355)
Halima Bensmail (10400)
Paul Lavender (7671401)
Richard Dillon (9149324)
Borbála Mifsud (19482298)
Cameron S. Osborne (7244990)
dc.date.none.fl_str_mv 2023-02-09T03:00:00Z
dc.identifier.none.fl_str_mv 10.1038/s41467-023-36262-0
dc.relation.none.fl_str_mv https://figshare.com/articles/journal_contribution/Multi-omics_and_machine_learning_reveal_context-specific_gene_regulatory_activities_of_PML_RARA_in_acute_promyelocytic_leukemia/26830123
dc.rights.none.fl_str_mv CC BY 4.0
info:eu-repo/semantics/openAccess
dc.subject.none.fl_str_mv Biomedical and clinical sciences
Oncology and carcinogenesis
Health sciences
Health services and systems
Information and computing sciences
Machine learning
PML::RARA Fusion Protein
Acute Promyelocytic Leukemia (APL)
Retinoic Acid Signaling
Gene Expression
Myeloid Precursor Cells
Multi-Omics Datasets
Machine Learning
dc.title.none.fl_str_mv Multi-omics and machine learning reveal context-specific gene regulatory activities of PML::RARA in acute promyelocytic leukemia
dc.type.none.fl_str_mv Text
Journal contribution
info:eu-repo/semantics/publishedVersion
text
contribution to journal
description <p dir="ltr">The PML::RARA fusion protein is the hallmark driver of Acute Promyelocytic Leukemia (APL) and disrupts retinoic acid signaling, leading to wide-scale gene expression changes and uncontrolled proliferation of myeloid precursor cells. While known to be recruited to binding sites across the genome, its impact on gene regulation and expression is under-explored. Using integrated multi-omics datasets, we characterize the influence of PML::RARA binding on gene expression and regulation in an inducible PML::RARA cell line model and APL patient ex vivo samples. We find that genes whose regulatory elements recruit PML::RARA are not uniformly transcriptionally repressed, as commonly suggested, but also may be upregulated or remain unchanged. We develop a computational machine learning implementation called Regulatory Element Behavior Extraction Learning to deconvolute the complex, local transcription factor binding site environment at PML::RARA bound positions to reveal distinct signatures that modulate how PML::RARA directs the transcriptional response.</p><h2>Other Information</h2><p dir="ltr">Published in: Nature Communications<br>License: <a href="https://creativecommons.org/licenses/by/4.0" target="_blank">https://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1038/s41467-023-36262-0" target="_blank">https://dx.doi.org/10.1038/s41467-023-36262-0</a></p>
eu_rights_str_mv openAccess
id Manara2_ef10c044df96820e883d2eb8a4a0d5fb
identifier_str_mv 10.1038/s41467-023-36262-0
network_acronym_str Manara2
network_name_str Manara2
oai_identifier_str oai:figshare.com:article/26830123
publishDate 2023
repository.mail.fl_str_mv
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rights_invalid_str_mv CC BY 4.0
spelling Multi-omics and machine learning reveal context-specific gene regulatory activities of PML::RARA in acute promyelocytic leukemiaWilliam Villiers (19482292)Audrey Kelly (7671395)Xiaohan He (9204173)James Kaufman-Cook (19482295)Abdurrahman Elbasir (9977355)Halima Bensmail (10400)Paul Lavender (7671401)Richard Dillon (9149324)Borbála Mifsud (19482298)Cameron S. Osborne (7244990)Biomedical and clinical sciencesOncology and carcinogenesisHealth sciencesHealth services and systemsInformation and computing sciencesMachine learningPML::RARA Fusion ProteinAcute Promyelocytic Leukemia (APL)Retinoic Acid SignalingGene ExpressionMyeloid Precursor CellsMulti-Omics DatasetsMachine Learning<p dir="ltr">The PML::RARA fusion protein is the hallmark driver of Acute Promyelocytic Leukemia (APL) and disrupts retinoic acid signaling, leading to wide-scale gene expression changes and uncontrolled proliferation of myeloid precursor cells. While known to be recruited to binding sites across the genome, its impact on gene regulation and expression is under-explored. Using integrated multi-omics datasets, we characterize the influence of PML::RARA binding on gene expression and regulation in an inducible PML::RARA cell line model and APL patient ex vivo samples. We find that genes whose regulatory elements recruit PML::RARA are not uniformly transcriptionally repressed, as commonly suggested, but also may be upregulated or remain unchanged. We develop a computational machine learning implementation called Regulatory Element Behavior Extraction Learning to deconvolute the complex, local transcription factor binding site environment at PML::RARA bound positions to reveal distinct signatures that modulate how PML::RARA directs the transcriptional response.</p><h2>Other Information</h2><p dir="ltr">Published in: Nature Communications<br>License: <a href="https://creativecommons.org/licenses/by/4.0" target="_blank">https://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1038/s41467-023-36262-0" target="_blank">https://dx.doi.org/10.1038/s41467-023-36262-0</a></p>2023-02-09T03:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1038/s41467-023-36262-0https://figshare.com/articles/journal_contribution/Multi-omics_and_machine_learning_reveal_context-specific_gene_regulatory_activities_of_PML_RARA_in_acute_promyelocytic_leukemia/26830123CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/268301232023-02-09T03:00:00Z
spellingShingle Multi-omics and machine learning reveal context-specific gene regulatory activities of PML::RARA in acute promyelocytic leukemia
William Villiers (19482292)
Biomedical and clinical sciences
Oncology and carcinogenesis
Health sciences
Health services and systems
Information and computing sciences
Machine learning
PML::RARA Fusion Protein
Acute Promyelocytic Leukemia (APL)
Retinoic Acid Signaling
Gene Expression
Myeloid Precursor Cells
Multi-Omics Datasets
Machine Learning
status_str publishedVersion
title Multi-omics and machine learning reveal context-specific gene regulatory activities of PML::RARA in acute promyelocytic leukemia
title_full Multi-omics and machine learning reveal context-specific gene regulatory activities of PML::RARA in acute promyelocytic leukemia
title_fullStr Multi-omics and machine learning reveal context-specific gene regulatory activities of PML::RARA in acute promyelocytic leukemia
title_full_unstemmed Multi-omics and machine learning reveal context-specific gene regulatory activities of PML::RARA in acute promyelocytic leukemia
title_short Multi-omics and machine learning reveal context-specific gene regulatory activities of PML::RARA in acute promyelocytic leukemia
title_sort Multi-omics and machine learning reveal context-specific gene regulatory activities of PML::RARA in acute promyelocytic leukemia
topic Biomedical and clinical sciences
Oncology and carcinogenesis
Health sciences
Health services and systems
Information and computing sciences
Machine learning
PML::RARA Fusion Protein
Acute Promyelocytic Leukemia (APL)
Retinoic Acid Signaling
Gene Expression
Myeloid Precursor Cells
Multi-Omics Datasets
Machine Learning