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Identification of Optimal Mouse Models of Systemic Sclerosis by Interspecies Comparative Genomics
Journal article   Open access

Identification of Optimal Mouse Models of Systemic Sclerosis by Interspecies Comparative Genomics

Jennifer L Sargent, Zhenghui Li, Antonios O Aliprantis, Matthew Greenblatt, Raphael Lemaire, Ming-Hua Wu, Jun Wei, Jaclyn Taroni, Adam Harris, Kristen B Long, …
Arthritis & rheumatology (Hoboken, N.J.), v 68(8), pp 2003-2015
Aug 2016
PMID: 26945694
url
https://doi.org/10.1002/art.39658View
Published, Version of Record (VoR)Maybe Open Access (Publisher Bronze) Open

Abstract

Animals Disease Models, Animal Female Genome-Wide Association Study Humans Male Mice Scleroderma, Systemic - genetics
Understanding the pathogenesis of systemic sclerosis (SSc) is confounded by considerable disease heterogeneity. Animal models of SSc that recapitulate distinct subsets of disease at the molecular level have not been delineated. We applied interspecies comparative analysis of genomic data from multiple mouse models of SSc and patients with SSc to determine which animal models best reflect the SSc intrinsic molecular subsets. Gene expression measured in skin from mice with sclerodermatous graft-versus-host disease (GVHD), bleomycin-induced fibrosis, Tsk1/+ or Tsk2/+ mice was mapped to human orthologs and compared to SSc skin biopsy-derived gene expression. Transforming growth factor β (TGFβ) activation was assessed using a responsive signature in mice, and tumor necrosis factor receptor superfamily member 12A (TNFRSF12A) expression was measured in SSc patient and mouse skin. Gene expression in skin from mice with sclerodermatous GVHD and bleomycin-induced fibrosis corresponded to that in SSc patients in the inflammatory molecular subset. In contrast, Tsk2/+ mice showed gene expression corresponding to the fibroproliferative SSc subset. Enrichment of a TGFβ-responsive signature was observed in both Tsk2/+ mice and mice with bleomycin-induced skin fibrosis. Expression of TNFRSF12A (the TWEAK receptor/fibroblast growth factor-inducible 14) was elevated in skin from patients with fibroproliferative SSc and the skin of Tsk2/+ mice. This study reveals similarities in cutaneous gene expression between distinct mouse models of SSc and specific molecular subsets of the disease. Different pathways underlie the intrinsic subsets including TGFβ, interleukin-13 (IL-13), and IL-4. We identify a novel target, Tnfrsf12a, with elevated expression in skin from patients with fibroproliferative SSc and Tsk2/+ mice. These findings will inform mechanistic and translational preclinical studies in SSc.

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Collaboration types
Domestic collaboration
Web of Science research areas
Rheumatology
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