Hi-C profiling in tissues reveals 3D chromatin-regulated breast tumor heterogeneity informing a looping-mediated therapeutic avenue

Summary: The limitations of Hi-C (high-throughput chromosome conformation capture) profiling in in vitro cell culture include failing to recapitulate disease-specific physiological properties and lacking a clinically relevant disease microenvironment. In this study, we conduct Hi-C profiling in a pi...

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Main Authors: Lavanya Choppavarapu, Kun Fang, Tianxiang Liu, Aigbe G. Ohihoin, Victor X. Jin
Format: Article
Language:English
Published: Elsevier 2025-04-01
Series:Cell Reports
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Online Access:http://www.sciencedirect.com/science/article/pii/S2211124725002219
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author Lavanya Choppavarapu
Kun Fang
Tianxiang Liu
Aigbe G. Ohihoin
Victor X. Jin
author_facet Lavanya Choppavarapu
Kun Fang
Tianxiang Liu
Aigbe G. Ohihoin
Victor X. Jin
author_sort Lavanya Choppavarapu
collection DOAJ
description Summary: The limitations of Hi-C (high-throughput chromosome conformation capture) profiling in in vitro cell culture include failing to recapitulate disease-specific physiological properties and lacking a clinically relevant disease microenvironment. In this study, we conduct Hi-C profiling in a pilot cohort of 12 breast tissues comprising two normal tissues, five ER+ breast primary tumors, and five tamoxifen-treated recurrent tumors. We demonstrate 3D chromatin-regulated breast tumor heterogeneity and identify a looping-mediated target gene, CA2, which might play a role in driving tamoxifen resistance. The inhibition of CA2 impedes tumor growth both in vitro and in vivo and reverses chromatin looping. The disruption of CA2 looping reduces tamoxifen-resistant cancer cell proliferation, decreases CA2 mRNA and protein expression, and weakens the looping interaction. Our study thus provides mechanistic and functional insights into the role of 3D chromatin architecture in regulating breast tumor heterogeneity and informs a new looping-mediated therapeutic avenue for treating breast cancer.
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spelling doaj-art-e025fc9eb0b9461fb6c379b7b4ca37cf2025-08-20T02:50:45ZengElsevierCell Reports2211-12472025-04-0144411545010.1016/j.celrep.2025.115450Hi-C profiling in tissues reveals 3D chromatin-regulated breast tumor heterogeneity informing a looping-mediated therapeutic avenueLavanya Choppavarapu0Kun Fang1Tianxiang Liu2Aigbe G. Ohihoin3Victor X. Jin4Divison of Biostatistics, Data Science Institute, Medical College of Wisconsin, Milwaukee, WI 53226, USA; MCW Cancer Center, Medical College of Wisconsin, Milwaukee, WI 53226, USA; Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI 53226, USADivison of Biostatistics, Data Science Institute, Medical College of Wisconsin, Milwaukee, WI 53226, USA; MCW Cancer Center, Medical College of Wisconsin, Milwaukee, WI 53226, USA; Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI 53226, USADivison of Biostatistics, Data Science Institute, Medical College of Wisconsin, Milwaukee, WI 53226, USA; MCW Cancer Center, Medical College of Wisconsin, Milwaukee, WI 53226, USA; Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI 53226, USACell and Developmental Biology PhD program, Medical College of Wisconsin, Milwaukee, WI 53226, USADivison of Biostatistics, Data Science Institute, Medical College of Wisconsin, Milwaukee, WI 53226, USA; MCW Cancer Center, Medical College of Wisconsin, Milwaukee, WI 53226, USA; Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI 53226, USA; Corresponding authorSummary: The limitations of Hi-C (high-throughput chromosome conformation capture) profiling in in vitro cell culture include failing to recapitulate disease-specific physiological properties and lacking a clinically relevant disease microenvironment. In this study, we conduct Hi-C profiling in a pilot cohort of 12 breast tissues comprising two normal tissues, five ER+ breast primary tumors, and five tamoxifen-treated recurrent tumors. We demonstrate 3D chromatin-regulated breast tumor heterogeneity and identify a looping-mediated target gene, CA2, which might play a role in driving tamoxifen resistance. The inhibition of CA2 impedes tumor growth both in vitro and in vivo and reverses chromatin looping. The disruption of CA2 looping reduces tamoxifen-resistant cancer cell proliferation, decreases CA2 mRNA and protein expression, and weakens the looping interaction. Our study thus provides mechanistic and functional insights into the role of 3D chromatin architecture in regulating breast tumor heterogeneity and informs a new looping-mediated therapeutic avenue for treating breast cancer.http://www.sciencedirect.com/science/article/pii/S2211124725002219CP: Cancer
spellingShingle Lavanya Choppavarapu
Kun Fang
Tianxiang Liu
Aigbe G. Ohihoin
Victor X. Jin
Hi-C profiling in tissues reveals 3D chromatin-regulated breast tumor heterogeneity informing a looping-mediated therapeutic avenue
Cell Reports
CP: Cancer
title Hi-C profiling in tissues reveals 3D chromatin-regulated breast tumor heterogeneity informing a looping-mediated therapeutic avenue
title_full Hi-C profiling in tissues reveals 3D chromatin-regulated breast tumor heterogeneity informing a looping-mediated therapeutic avenue
title_fullStr Hi-C profiling in tissues reveals 3D chromatin-regulated breast tumor heterogeneity informing a looping-mediated therapeutic avenue
title_full_unstemmed Hi-C profiling in tissues reveals 3D chromatin-regulated breast tumor heterogeneity informing a looping-mediated therapeutic avenue
title_short Hi-C profiling in tissues reveals 3D chromatin-regulated breast tumor heterogeneity informing a looping-mediated therapeutic avenue
title_sort hi c profiling in tissues reveals 3d chromatin regulated breast tumor heterogeneity informing a looping mediated therapeutic avenue
topic CP: Cancer
url http://www.sciencedirect.com/science/article/pii/S2211124725002219
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