ArticleThe Journal of investigative dermatology2015
The Tsk2/+ mouse fibrotic phenotype is due to a gain-of-function mutation in the PIIINP segment of the Col3a1 gene.
Article in The Journal of investigative dermatology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- Mesenchymal stem cell therapy in hypertrophic and keloid scars.Cell and tissue research · 2021Pooled it
- Pathogenesis of interstitial lung disease in systemic sclerosis.Rheumatology and immunology research · 2024Article
- Animal Models of Systemic Sclerosis: Using Nailfold Capillaroscopy as a Potential Tool to Evaluate Microcirculation and Microangiopathy: A Narrative Review.Life (Basel, Switzerland) · 2022Review
- Cysteine-rich domain of type III collagen N-propeptide inhibits fibroblast activation by attenuating TGFβ signaling.Matrix biology : journal of the International Society for Matrix Biology · 2022Article
- Four decades in the making: Collagen III and mechanisms of vascular Ehlers Danlos Syndrome.Matrix biology plus · 2021Review
- Engineering Advanced In Vitro Models of Systemic Sclerosis for Drug Discovery and Development.Advanced biology · 2021Review
- Mouse Models of Skin Fibrosis.Methods in molecular biology (Clifton, N.J.) · 2021Article
- Molecular "omic" signatures in systemic sclerosis.European journal of rheumatology · 2020Review
- CDDO-Me Alters the Tumor Microenvironment in Estrogen Receptor Negative Breast Cancer.Scientific reports · 2020Article
- Review
- Fell Muir Lecture: Collagen fibril formation in vitro and in vivo.International journal of experimental pathology · 2017Review
- Identification of Optimal Mouse Models of Systemic Sclerosis by Interspecies Comparative Genomics.Arthritis & rheumatology (Hoboken, N.J.) · 2016Article
- Keloids: Animal models and pathologic equivalents to study tissue fibrosis.Matrix biology : journal of the International Society for Matrix Biology · 2016Review
- Differences between Mice and Humans in Regulation and the Molecular Network of Collagen, Type III, Alpha-1 at the Gene Expression Level: Obstacles that Translational Research Must Overcome.International journal of molecular sciences · 2015Article
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
Abstract
Systemic sclerosis (SSc) is a polygenic, autoimmune disorder of unknown etiology, characterized by the excessive accumulation of extracellular matrix (ECM) proteins, vascular alterations, and autoantibodies. The tight skin (Tsk)2/+ mouse model of SSc demonstrates signs similar to SSc including tight skin and excessive deposition of dermal ECM proteins. By linkage analysis, we mapped the Tsk2 gene mutation to <3 megabases on chromosome 1. We performed both RNA sequencing of skin transcripts and genome capture DNA sequencing of the region spanning this interval in Tsk2/+ and wild-type littermates. A missense point mutation in the procollagen III amino terminal propeptide segment (PIIINP) of collagen, type III, alpha 1 (Col3a1) was found to be the best candidate for Tsk2; hence, both in vivo and in vitro genetic complementation tests were used to prove that this Col3a1 mutation is the Tsk2 gene. All previously documented mutations in the human Col3a1 gene are associated with the Ehlers-Danlos syndrome, a connective tissue disorder that leads to a defect in type III collagen synthesis. To our knowledge, the Tsk2 point mutation is the first documented gain-of-function mutation associated with Col3a1, which leads instead to fibrosis. This discovery provides insight into the mechanism of skin fibrosis manifested by Tsk2/+ mice.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.