COP1 Deficiency in BRAF<sup>V600E</sup> Melanomas Confers Resistance to Inhibitors of the MAPK Pathway

Aberrant activation of the mitogen-activated protein kinase (MAPK) cascade promotes oncogenic transcriptomes. Despite efforts to inhibit oncogenic kinases, such as BRAFV600E, tumor responses in patients can be heterogeneous and limited by drug resistance mechanisms. Here, we describe patient tumors...

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Main Authors: Ada Ndoja, Christopher M. Rose, Eva Lin, Rohit Reja, Jelena Petrovic, Sarah Kummerfeld, Andrew Blair, Helen Rizos, Zora Modrusan, Scott Martin, Donald S. Kirkpatrick, Amy Heidersbach, Tao Sun, Benjamin Haley, Ozge Karayel, Kim Newton, Vishva M. Dixit
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Language:English
Published: MDPI AG 2025-06-01
Series:Cells
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Online Access:https://www.mdpi.com/2073-4409/14/13/975
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author Ada Ndoja
Christopher M. Rose
Eva Lin
Rohit Reja
Jelena Petrovic
Sarah Kummerfeld
Andrew Blair
Helen Rizos
Zora Modrusan
Scott Martin
Donald S. Kirkpatrick
Amy Heidersbach
Tao Sun
Benjamin Haley
Ozge Karayel
Kim Newton
Vishva M. Dixit
author_facet Ada Ndoja
Christopher M. Rose
Eva Lin
Rohit Reja
Jelena Petrovic
Sarah Kummerfeld
Andrew Blair
Helen Rizos
Zora Modrusan
Scott Martin
Donald S. Kirkpatrick
Amy Heidersbach
Tao Sun
Benjamin Haley
Ozge Karayel
Kim Newton
Vishva M. Dixit
author_sort Ada Ndoja
collection DOAJ
description Aberrant activation of the mitogen-activated protein kinase (MAPK) cascade promotes oncogenic transcriptomes. Despite efforts to inhibit oncogenic kinases, such as BRAFV600E, tumor responses in patients can be heterogeneous and limited by drug resistance mechanisms. Here, we describe patient tumors that acquired COP1 or DET1 mutations after treatment with the BRAF<sup>V600E</sup> inhibitor vemurafenib. COP1 and DET1 constitute the substrate adaptor of the E3 ubiquitin ligase CRL4<sup>COP1/DET1</sup>, which targets transcription factors, including ETV1, ETV4, and ETV5, for proteasomal degradation. MAPK-MEK-ERK signaling prevents CRL4<sup>COP1/DET1</sup> from ubiquitinating ETV1, ETV4, and ETV5, but the mechanistic details are still being elucidated. We found that patient mutations in COP1 or DET1 inactivated CRL4<sup>COP1/DET1</sup> in melanoma cells, stabilized ETV1, ETV4, and ETV5, and conferred resistance to inhibitors of the MAPK pathway. ETV5, in particular, enhanced cell survival and was found to promote the expression of the pro-survival gene BCL2A1. Indeed, the deletion of pro-survival BCL2A1 re-sensitized COP1 mutant cells to vemurafenib treatment. These observations indicate that the post-translational regulation of ETV5 by CRL4<sup>COP1/DET1</sup> modulates transcriptional outputs in ERK-dependent cancers, and its inactivation contributes to therapeutic resistance.
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spelling doaj-art-533fc503862e4dbcb9aaa79eca9d5a8c2025-08-20T03:28:25ZengMDPI AGCells2073-44092025-06-01141397510.3390/cells14130975COP1 Deficiency in BRAF<sup>V600E</sup> Melanomas Confers Resistance to Inhibitors of the MAPK PathwayAda Ndoja0Christopher M. Rose1Eva Lin2Rohit Reja3Jelena Petrovic4Sarah Kummerfeld5Andrew Blair6Helen Rizos7Zora Modrusan8Scott Martin9Donald S. Kirkpatrick10Amy Heidersbach11Tao Sun12Benjamin Haley13Ozge Karayel14Kim Newton15Vishva M. Dixit16Department of Physiological Chemistry, Genentech, South San Francisco, CA 94080, USADepartment of Proteomics and Genomics Technologies, Genentech, South San Francisco, CA 94080, USADepartment of Molecular Oncology, Genentech, South San Francisco, CA 94080, USADepartment of Computational Sciences, Genentech, South San Francisco, CA 94080, USADepartment of Proteomics and Genomics Technologies, Genentech, South San Francisco, CA 94080, USADepartment of Computational Sciences, Genentech, South San Francisco, CA 94080, USADepartment of Computational Sciences, Genentech, South San Francisco, CA 94080, USAMelanoma Institute Australia, Wollstonecraft, NSW 2065, AustraliaDepartment of Proteomics and Genomics Technologies, Genentech, South San Francisco, CA 94080, USADepartment of Molecular Oncology, Genentech, South San Francisco, CA 94080, USADepartment of Proteomics and Genomics Technologies, Genentech, South San Francisco, CA 94080, USADepartment of Molecular Biology, Genentech, South San Francisco, CA 94080, USADepartment of Molecular Biology, Genentech, South San Francisco, CA 94080, USADepartment of Molecular Biology, Genentech, South San Francisco, CA 94080, USADepartment of Physiological Chemistry, Genentech, South San Francisco, CA 94080, USADepartment of Physiological Chemistry, Genentech, South San Francisco, CA 94080, USADepartment of Physiological Chemistry, Genentech, South San Francisco, CA 94080, USAAberrant activation of the mitogen-activated protein kinase (MAPK) cascade promotes oncogenic transcriptomes. Despite efforts to inhibit oncogenic kinases, such as BRAFV600E, tumor responses in patients can be heterogeneous and limited by drug resistance mechanisms. Here, we describe patient tumors that acquired COP1 or DET1 mutations after treatment with the BRAF<sup>V600E</sup> inhibitor vemurafenib. COP1 and DET1 constitute the substrate adaptor of the E3 ubiquitin ligase CRL4<sup>COP1/DET1</sup>, which targets transcription factors, including ETV1, ETV4, and ETV5, for proteasomal degradation. MAPK-MEK-ERK signaling prevents CRL4<sup>COP1/DET1</sup> from ubiquitinating ETV1, ETV4, and ETV5, but the mechanistic details are still being elucidated. We found that patient mutations in COP1 or DET1 inactivated CRL4<sup>COP1/DET1</sup> in melanoma cells, stabilized ETV1, ETV4, and ETV5, and conferred resistance to inhibitors of the MAPK pathway. ETV5, in particular, enhanced cell survival and was found to promote the expression of the pro-survival gene BCL2A1. Indeed, the deletion of pro-survival BCL2A1 re-sensitized COP1 mutant cells to vemurafenib treatment. These observations indicate that the post-translational regulation of ETV5 by CRL4<sup>COP1/DET1</sup> modulates transcriptional outputs in ERK-dependent cancers, and its inactivation contributes to therapeutic resistance.https://www.mdpi.com/2073-4409/14/13/975COP1DET1BRAFmelanomavemurafenib
spellingShingle Ada Ndoja
Christopher M. Rose
Eva Lin
Rohit Reja
Jelena Petrovic
Sarah Kummerfeld
Andrew Blair
Helen Rizos
Zora Modrusan
Scott Martin
Donald S. Kirkpatrick
Amy Heidersbach
Tao Sun
Benjamin Haley
Ozge Karayel
Kim Newton
Vishva M. Dixit
COP1 Deficiency in BRAF<sup>V600E</sup> Melanomas Confers Resistance to Inhibitors of the MAPK Pathway
Cells
COP1
DET1
BRAF
melanoma
vemurafenib
title COP1 Deficiency in BRAF<sup>V600E</sup> Melanomas Confers Resistance to Inhibitors of the MAPK Pathway
title_full COP1 Deficiency in BRAF<sup>V600E</sup> Melanomas Confers Resistance to Inhibitors of the MAPK Pathway
title_fullStr COP1 Deficiency in BRAF<sup>V600E</sup> Melanomas Confers Resistance to Inhibitors of the MAPK Pathway
title_full_unstemmed COP1 Deficiency in BRAF<sup>V600E</sup> Melanomas Confers Resistance to Inhibitors of the MAPK Pathway
title_short COP1 Deficiency in BRAF<sup>V600E</sup> Melanomas Confers Resistance to Inhibitors of the MAPK Pathway
title_sort cop1 deficiency in braf sup v600e sup melanomas confers resistance to inhibitors of the mapk pathway
topic COP1
DET1
BRAF
melanoma
vemurafenib
url https://www.mdpi.com/2073-4409/14/13/975
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