Genetic and epigenetic regulation of Treg cell fitness by autism-related chromatin remodeler CHD8

Abstract Background Chromatin remodeler chromodomain helicase DNA-binding protein 8 (CHD8) defines a subtype of autism that is associated with immune disorders. It remains unknown whether CHD8 plays a cell-intrinsic role in immune cells such as regulatory T cells (Tregs) that maintain immune toleran...

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Main Authors: Jun-Qi Yang, Chen Wang, Ramesh C. Nayak, Manohar Kolla, Mingjun Cai, Mario Pujato, Yi Zheng, Q. Richard Lu, Fukun Guo
Format: Article
Language:English
Published: BMC 2025-03-01
Series:Cellular & Molecular Biology Letters
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Online Access:https://doi.org/10.1186/s11658-025-00711-z
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author Jun-Qi Yang
Chen Wang
Ramesh C. Nayak
Manohar Kolla
Mingjun Cai
Mario Pujato
Yi Zheng
Q. Richard Lu
Fukun Guo
author_facet Jun-Qi Yang
Chen Wang
Ramesh C. Nayak
Manohar Kolla
Mingjun Cai
Mario Pujato
Yi Zheng
Q. Richard Lu
Fukun Guo
author_sort Jun-Qi Yang
collection DOAJ
description Abstract Background Chromatin remodeler chromodomain helicase DNA-binding protein 8 (CHD8) defines a subtype of autism that is associated with immune disorders. It remains unknown whether CHD8 plays a cell-intrinsic role in immune cells such as regulatory T cells (Tregs) that maintain immune tolerance through suppressing CD4+ and CD8+ effector T cells. Methods Treg-specific conditional CHD8-deficient mice were generated by crossing Chd8Flox/Flox mice with Foxp3YFP−cre transgenic mice. Effects of CHD8 deficiency were investigated using hematoxylin and eosin (H&E) staining, flow cytometry, and multi-omics, including RNA-sequencing (RNA-seq), assay for transposase-accessible chromatin sequencing (ATAC-seq), and chromatin immunoprecipitation sequencing (CHIP-seq). Results We found that Treg-specific CHD8 deletion led to early, fatal inflammation owing to increased CD4+ and CD8+ effector T cells. CHD8 deletion did not alter Treg homeostasis but increased their functional plasticity with elevated expression of effector T cell cytokines. CHIP-seq of Tregs uncovered that CHD8 binding genes were enriched in phosphatidylinositol-3 kinase (PI3K)–protein kinase B (Akt)–mammalian target of rapamycin (mTOR) signaling and several other pathways. RNA-seq and ATAC-seq revealed that CHD8 deletion upregulated a number of pathways, notably mammalian target of rapamycin complex 1 (mTORC1) signaling and its mediated glycolysis that have been reported to promote Treg plasticity. Integrating RNA-seq data with CHIP-seq and ATAC-seq data identified a number of CHD8 target genes whose expression depends on CHD8 direct binding-mediated chromatin remodeling. Conclusions Our findings suggest that CHD8 plays an important role in maintaining Treg fitness through genetic and epigenetic mechanisms to control autoimmunity, which may have important implications in immune changes in autism.
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spelling doaj-art-9f3448b5ac114c8c85adde59404dbde12025-08-20T02:49:35ZengBMCCellular & Molecular Biology Letters1689-13922025-03-0130112110.1186/s11658-025-00711-zGenetic and epigenetic regulation of Treg cell fitness by autism-related chromatin remodeler CHD8Jun-Qi Yang0Chen Wang1Ramesh C. Nayak2Manohar Kolla3Mingjun Cai4Mario Pujato5Yi Zheng6Q. Richard Lu7Fukun Guo8Division of Experimental Hematology and Cancer Biology, Children’s Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of MedicineDivision of Experimental Hematology and Cancer Biology, Children’s Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of MedicineDivision of Experimental Hematology and Cancer Biology, Children’s Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of MedicineDivision of Experimental Hematology and Cancer Biology, Children’s Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of MedicineDivision of Experimental Hematology and Cancer Biology, Children’s Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of MedicineLife Sciences Computational Services LLCDivision of Experimental Hematology and Cancer Biology, Children’s Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of MedicineDivision of Experimental Hematology and Cancer Biology, Children’s Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of MedicineDivision of Experimental Hematology and Cancer Biology, Children’s Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of MedicineAbstract Background Chromatin remodeler chromodomain helicase DNA-binding protein 8 (CHD8) defines a subtype of autism that is associated with immune disorders. It remains unknown whether CHD8 plays a cell-intrinsic role in immune cells such as regulatory T cells (Tregs) that maintain immune tolerance through suppressing CD4+ and CD8+ effector T cells. Methods Treg-specific conditional CHD8-deficient mice were generated by crossing Chd8Flox/Flox mice with Foxp3YFP−cre transgenic mice. Effects of CHD8 deficiency were investigated using hematoxylin and eosin (H&E) staining, flow cytometry, and multi-omics, including RNA-sequencing (RNA-seq), assay for transposase-accessible chromatin sequencing (ATAC-seq), and chromatin immunoprecipitation sequencing (CHIP-seq). Results We found that Treg-specific CHD8 deletion led to early, fatal inflammation owing to increased CD4+ and CD8+ effector T cells. CHD8 deletion did not alter Treg homeostasis but increased their functional plasticity with elevated expression of effector T cell cytokines. CHIP-seq of Tregs uncovered that CHD8 binding genes were enriched in phosphatidylinositol-3 kinase (PI3K)–protein kinase B (Akt)–mammalian target of rapamycin (mTOR) signaling and several other pathways. RNA-seq and ATAC-seq revealed that CHD8 deletion upregulated a number of pathways, notably mammalian target of rapamycin complex 1 (mTORC1) signaling and its mediated glycolysis that have been reported to promote Treg plasticity. Integrating RNA-seq data with CHIP-seq and ATAC-seq data identified a number of CHD8 target genes whose expression depends on CHD8 direct binding-mediated chromatin remodeling. Conclusions Our findings suggest that CHD8 plays an important role in maintaining Treg fitness through genetic and epigenetic mechanisms to control autoimmunity, which may have important implications in immune changes in autism.https://doi.org/10.1186/s11658-025-00711-zCHD8TregTreg plasticityChromatin remodelingGene expression
spellingShingle Jun-Qi Yang
Chen Wang
Ramesh C. Nayak
Manohar Kolla
Mingjun Cai
Mario Pujato
Yi Zheng
Q. Richard Lu
Fukun Guo
Genetic and epigenetic regulation of Treg cell fitness by autism-related chromatin remodeler CHD8
Cellular & Molecular Biology Letters
CHD8
Treg
Treg plasticity
Chromatin remodeling
Gene expression
title Genetic and epigenetic regulation of Treg cell fitness by autism-related chromatin remodeler CHD8
title_full Genetic and epigenetic regulation of Treg cell fitness by autism-related chromatin remodeler CHD8
title_fullStr Genetic and epigenetic regulation of Treg cell fitness by autism-related chromatin remodeler CHD8
title_full_unstemmed Genetic and epigenetic regulation of Treg cell fitness by autism-related chromatin remodeler CHD8
title_short Genetic and epigenetic regulation of Treg cell fitness by autism-related chromatin remodeler CHD8
title_sort genetic and epigenetic regulation of treg cell fitness by autism related chromatin remodeler chd8
topic CHD8
Treg
Treg plasticity
Chromatin remodeling
Gene expression
url https://doi.org/10.1186/s11658-025-00711-z
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