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Systematic genetic mapping of necroptosis identifies SLC39A7 as modulator of death receptor trafficking

Regulation of cell and tissue homeostasis by programmed cell death is a fundamental process with wide physiological and pathological implications. The advent of scalable somatic cell genetic technologies creates the opportunity to functionally map such essential pathways, thereby identifying potenti...

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Autores principales: Fauster, Astrid, Rebsamen, Manuele, Willmann, Katharina L., César-Razquin, Adrian, Girardi, Enrico, Bigenzahn, Johannes W., Schischlik, Fiorella, Scorzoni, Stefania, Bruckner, Manuela, Konecka, Justyna, Hörmann, Katrin, Heinz, Leonhard X., Boztug, Kaan, Superti-Furga, Giulio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6748104/
https://www.ncbi.nlm.nih.gov/pubmed/30237509
http://dx.doi.org/10.1038/s41418-018-0192-6
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author Fauster, Astrid
Rebsamen, Manuele
Willmann, Katharina L.
César-Razquin, Adrian
Girardi, Enrico
Bigenzahn, Johannes W.
Schischlik, Fiorella
Scorzoni, Stefania
Bruckner, Manuela
Konecka, Justyna
Hörmann, Katrin
Heinz, Leonhard X.
Boztug, Kaan
Superti-Furga, Giulio
author_facet Fauster, Astrid
Rebsamen, Manuele
Willmann, Katharina L.
César-Razquin, Adrian
Girardi, Enrico
Bigenzahn, Johannes W.
Schischlik, Fiorella
Scorzoni, Stefania
Bruckner, Manuela
Konecka, Justyna
Hörmann, Katrin
Heinz, Leonhard X.
Boztug, Kaan
Superti-Furga, Giulio
author_sort Fauster, Astrid
collection PubMed
description Regulation of cell and tissue homeostasis by programmed cell death is a fundamental process with wide physiological and pathological implications. The advent of scalable somatic cell genetic technologies creates the opportunity to functionally map such essential pathways, thereby identifying potential disease-relevant components. We investigated the genetic basis underlying necroptotic cell death by performing a complementary set of loss-of-function and gain-of-function genetic screens. To this end, we established FADD-deficient haploid human KBM7 cells, which specifically and efficiently undergo necroptosis after a single treatment with either TNFα or the SMAC mimetic compound birinapant. A series of unbiased gene-trap screens identified key signaling mediators, such as TNFR1, RIPK1, RIPK3, and MLKL. Among the novel components, we focused on the zinc transporter SLC39A7, whose knock-out led to necroptosis resistance by affecting TNF receptor surface levels. Orthogonal, solute carrier (SLC)-focused CRISPR/Cas9-based genetic screens revealed the exquisite specificity of SLC39A7, among ~400 SLC genes, for TNFR1-mediated and FAS-mediated but not TRAIL-R1-mediated responses. Mechanistically, we demonstrate that loss of SLC39A7 resulted in augmented ER stress and impaired receptor trafficking, thereby globally affecting downstream signaling. The newly established cellular model also allowed genome-wide gain-of-function screening for genes conferring resistance to necroptosis via the CRISPR/Cas9-based synergistic activation mediator approach. Among these, we found cIAP1 and cIAP2, and characterized the role of TNIP1, which prevented pathway activation in a ubiquitin-binding dependent manner. Altogether, the gain-of-function and loss-of-function screens described here provide a global genetic chart of the molecular factors involved in necroptosis and death receptor signaling, prompting further investigation of their individual contribution and potential role in pathological conditions.
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spelling pubmed-67481042019-10-18 Systematic genetic mapping of necroptosis identifies SLC39A7 as modulator of death receptor trafficking Fauster, Astrid Rebsamen, Manuele Willmann, Katharina L. César-Razquin, Adrian Girardi, Enrico Bigenzahn, Johannes W. Schischlik, Fiorella Scorzoni, Stefania Bruckner, Manuela Konecka, Justyna Hörmann, Katrin Heinz, Leonhard X. Boztug, Kaan Superti-Furga, Giulio Cell Death Differ Article Regulation of cell and tissue homeostasis by programmed cell death is a fundamental process with wide physiological and pathological implications. The advent of scalable somatic cell genetic technologies creates the opportunity to functionally map such essential pathways, thereby identifying potential disease-relevant components. We investigated the genetic basis underlying necroptotic cell death by performing a complementary set of loss-of-function and gain-of-function genetic screens. To this end, we established FADD-deficient haploid human KBM7 cells, which specifically and efficiently undergo necroptosis after a single treatment with either TNFα or the SMAC mimetic compound birinapant. A series of unbiased gene-trap screens identified key signaling mediators, such as TNFR1, RIPK1, RIPK3, and MLKL. Among the novel components, we focused on the zinc transporter SLC39A7, whose knock-out led to necroptosis resistance by affecting TNF receptor surface levels. Orthogonal, solute carrier (SLC)-focused CRISPR/Cas9-based genetic screens revealed the exquisite specificity of SLC39A7, among ~400 SLC genes, for TNFR1-mediated and FAS-mediated but not TRAIL-R1-mediated responses. Mechanistically, we demonstrate that loss of SLC39A7 resulted in augmented ER stress and impaired receptor trafficking, thereby globally affecting downstream signaling. The newly established cellular model also allowed genome-wide gain-of-function screening for genes conferring resistance to necroptosis via the CRISPR/Cas9-based synergistic activation mediator approach. Among these, we found cIAP1 and cIAP2, and characterized the role of TNIP1, which prevented pathway activation in a ubiquitin-binding dependent manner. Altogether, the gain-of-function and loss-of-function screens described here provide a global genetic chart of the molecular factors involved in necroptosis and death receptor signaling, prompting further investigation of their individual contribution and potential role in pathological conditions. Nature Publishing Group UK 2018-09-20 2019-06 /pmc/articles/PMC6748104/ /pubmed/30237509 http://dx.doi.org/10.1038/s41418-018-0192-6 Text en © The Author(s) 2018 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Article
Fauster, Astrid
Rebsamen, Manuele
Willmann, Katharina L.
César-Razquin, Adrian
Girardi, Enrico
Bigenzahn, Johannes W.
Schischlik, Fiorella
Scorzoni, Stefania
Bruckner, Manuela
Konecka, Justyna
Hörmann, Katrin
Heinz, Leonhard X.
Boztug, Kaan
Superti-Furga, Giulio
Systematic genetic mapping of necroptosis identifies SLC39A7 as modulator of death receptor trafficking
title Systematic genetic mapping of necroptosis identifies SLC39A7 as modulator of death receptor trafficking
title_full Systematic genetic mapping of necroptosis identifies SLC39A7 as modulator of death receptor trafficking
title_fullStr Systematic genetic mapping of necroptosis identifies SLC39A7 as modulator of death receptor trafficking
title_full_unstemmed Systematic genetic mapping of necroptosis identifies SLC39A7 as modulator of death receptor trafficking
title_short Systematic genetic mapping of necroptosis identifies SLC39A7 as modulator of death receptor trafficking
title_sort systematic genetic mapping of necroptosis identifies slc39a7 as modulator of death receptor trafficking
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6748104/
https://www.ncbi.nlm.nih.gov/pubmed/30237509
http://dx.doi.org/10.1038/s41418-018-0192-6
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