Single-Nucleus Chromatin Accessibility and Epigenetic Study Uncover Cell States and Transcriptional Regulation of Epidermis in Hidradenitis Suppurativa

<b>Background/Objectives:</b> Hidradenitis suppurativa (HS) is a complicated chronic inflammatory skin disorder characterized by recurrent and painful deep-seated nodules, abscesses, fistulae, scarring, and sinus tracts. HS most commonly affects high-density hair follicles and apocrine g...

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Main Authors: Safiya Haque, Suha Mohiuddin, Jasim Khan, Suhail Muzaffar, Sudeepthi Vejendla, Yanfeng Zhang, Masakazu Kamata, Lin Jin
Format: Article
Language:English
Published: MDPI AG 2025-06-01
Series:Biomedicines
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Online Access:https://www.mdpi.com/2227-9059/13/7/1599
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author Safiya Haque
Suha Mohiuddin
Jasim Khan
Suhail Muzaffar
Sudeepthi Vejendla
Yanfeng Zhang
Masakazu Kamata
Lin Jin
author_facet Safiya Haque
Suha Mohiuddin
Jasim Khan
Suhail Muzaffar
Sudeepthi Vejendla
Yanfeng Zhang
Masakazu Kamata
Lin Jin
author_sort Safiya Haque
collection DOAJ
description <b>Background/Objectives:</b> Hidradenitis suppurativa (HS) is a complicated chronic inflammatory skin disorder characterized by recurrent and painful deep-seated nodules, abscesses, fistulae, scarring, and sinus tracts. HS most commonly affects high-density hair follicles and apocrine gland-rich regions of the body, including the axillae, inguinal folds, breasts, and perianal areas. Although genetic predisposition and environmental factors are known to contribute to the development and the severity of HS, the molecular mechanisms of HS are largely unknown. <b>Methods:</b> In this study, we employed global epigenetic and genomic data analysis and single-nucleus ATAC-seq (snATAC-seq) to profile the heterogeneity of HS-associated chromatin accessibility and define the underlying disease drivers. We additionally performed high-resolution immunofluorescence staining to confirm a novel candidate regulator. <b>Results:</b> We found that multiple skin development modules and molecular signal pathways were epigenetically dysregulated in HS basal CD49f<sup>high</sup> cells. Importantly, our snATAC-seq revealed a previously unraveled role for a transcription factor, ATF3, in transcriptionally regulating HS-associated genes. We also delineated the specific ATF3 expression pattern across the HS lesional skin. <b>Conclusions:</b> We characterize HS-specific epigenetic plasticity and chromatin state at the single-nucleus level and further underscore a possible mechanism for HS pathogenesis.
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spelling doaj-art-a45be6bdc67b45be80ce657994d04d5a2025-08-20T03:02:48ZengMDPI AGBiomedicines2227-90592025-06-01137159910.3390/biomedicines13071599Single-Nucleus Chromatin Accessibility and Epigenetic Study Uncover Cell States and Transcriptional Regulation of Epidermis in Hidradenitis SuppurativaSafiya Haque0Suha Mohiuddin1Jasim Khan2Suhail Muzaffar3Sudeepthi Vejendla4Yanfeng Zhang5Masakazu Kamata6Lin Jin7Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USADepartment of Dermatology, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USADepartment of Dermatology, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USADepartment of Dermatology, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USADepartment of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USADepartment of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USADepartment of Microbiology, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USADepartment of Dermatology, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA<b>Background/Objectives:</b> Hidradenitis suppurativa (HS) is a complicated chronic inflammatory skin disorder characterized by recurrent and painful deep-seated nodules, abscesses, fistulae, scarring, and sinus tracts. HS most commonly affects high-density hair follicles and apocrine gland-rich regions of the body, including the axillae, inguinal folds, breasts, and perianal areas. Although genetic predisposition and environmental factors are known to contribute to the development and the severity of HS, the molecular mechanisms of HS are largely unknown. <b>Methods:</b> In this study, we employed global epigenetic and genomic data analysis and single-nucleus ATAC-seq (snATAC-seq) to profile the heterogeneity of HS-associated chromatin accessibility and define the underlying disease drivers. We additionally performed high-resolution immunofluorescence staining to confirm a novel candidate regulator. <b>Results:</b> We found that multiple skin development modules and molecular signal pathways were epigenetically dysregulated in HS basal CD49f<sup>high</sup> cells. Importantly, our snATAC-seq revealed a previously unraveled role for a transcription factor, ATF3, in transcriptionally regulating HS-associated genes. We also delineated the specific ATF3 expression pattern across the HS lesional skin. <b>Conclusions:</b> We characterize HS-specific epigenetic plasticity and chromatin state at the single-nucleus level and further underscore a possible mechanism for HS pathogenesis.https://www.mdpi.com/2227-9059/13/7/1599hidradenitis suppurativaepigenetic regulationsingle-nucleus chromatin accessibilityATF3
spellingShingle Safiya Haque
Suha Mohiuddin
Jasim Khan
Suhail Muzaffar
Sudeepthi Vejendla
Yanfeng Zhang
Masakazu Kamata
Lin Jin
Single-Nucleus Chromatin Accessibility and Epigenetic Study Uncover Cell States and Transcriptional Regulation of Epidermis in Hidradenitis Suppurativa
Biomedicines
hidradenitis suppurativa
epigenetic regulation
single-nucleus chromatin accessibility
ATF3
title Single-Nucleus Chromatin Accessibility and Epigenetic Study Uncover Cell States and Transcriptional Regulation of Epidermis in Hidradenitis Suppurativa
title_full Single-Nucleus Chromatin Accessibility and Epigenetic Study Uncover Cell States and Transcriptional Regulation of Epidermis in Hidradenitis Suppurativa
title_fullStr Single-Nucleus Chromatin Accessibility and Epigenetic Study Uncover Cell States and Transcriptional Regulation of Epidermis in Hidradenitis Suppurativa
title_full_unstemmed Single-Nucleus Chromatin Accessibility and Epigenetic Study Uncover Cell States and Transcriptional Regulation of Epidermis in Hidradenitis Suppurativa
title_short Single-Nucleus Chromatin Accessibility and Epigenetic Study Uncover Cell States and Transcriptional Regulation of Epidermis in Hidradenitis Suppurativa
title_sort single nucleus chromatin accessibility and epigenetic study uncover cell states and transcriptional regulation of epidermis in hidradenitis suppurativa
topic hidradenitis suppurativa
epigenetic regulation
single-nucleus chromatin accessibility
ATF3
url https://www.mdpi.com/2227-9059/13/7/1599
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