Analysis of Polymorphisms in the Mediator Complex Subunit 13-like (Med13L) Gene in the Context of Immune Function and Development of Experimental Arthritis
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The Mediator complex subunit 13-like (MED13L) protein is part of the multi-protein mediator complex and plays an important role in gene transcription. Polymorphisms in the MED13L gene have been linked to congenital heart anomalies and intellectual disabilities. Despite recent evidence of indirect links of MED13L to cytokine release and inflammation, impact of genetic variations in MED13L on immune cells remains unexplored. The B10.RIII and RIIIS/J mouse strains vary in susceptibility to induced experimental autoimmune disease models. From sequencing data of the two mouse strains, we identified six polymorphisms in the coding regions of Med13L. Using congenic mice, we studied the effect of these polymorphisms on immune cell development and function along with susceptibility to collagen-induced arthritis, an animal model for rheumatoid arthritis. Combining in vivo disease data, in vitro functional data, and computational analysis of the reported non-synonymous polymorphisms, we report that genetic polymorphisms in Med13L do not affect the immune phenotype in these mice and are predicted to be non-disease associated.
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B10.RIIIS/J-Eae39r1 sub-congenic mice (with only Med13l in the sub-congenic fragment) develop arthritis to the same extent as wild-type B10.RIII mice.
“We have previously shown that B10.RIIIS/J-Eae39r1 sub-congenic mice (with only Med13l in the sub-congenic fragment) develop arthritis to the same extent as the wild-type B10.RIII mice [46].”
From The oncoprotein TBX3 is controlling severity in experimental arthritis (2019) · cites this paper as [46]
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The oncoprotein TBX3 is controlling severity in experimental arthritis
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- Authors
- Sardar, S., Kanne, K., & Andersson, Å.
- Affiliations
- University of Copenhagen (DK)
- Corresponding author
- Andersson, Åsa
- Venue
- Archivum Immunologiae et Therapiae Experimentalis
- Publisher
- Walter de Gruyter GmbH
- Published
- 2018-06-27
- Volume
- 66
- Issue
- 5
- Pages
- 365-377
- ISSN
- 0004-069X (ISSN-L)
- 1661-4917
- PMC
- PMC6154033
- OpenAlex
- W2804522148
- Cited by
- 3
- References
- 64
- Citations by year
- 2025: 1 · 2019: 2
- FWCI
- 0.43
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Archivum Immunologiae et Therapiae Experimentalis (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, cc-by)
- Diva portal (Dalarna University Library) (submittedVersion, other-oa)
- Funders
- Gigtforeningen
- Oticon Fonden
- Topics
- Health Sciences › Medicine › Rheumatology › Rheumatoid Arthritis Research and Therapies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Complementary and alternative medicine › Natural Compounds in Disease Treatment
- Keywords
- MED13L, Mediator complex, genetic polymorphism, non-synonymous variants, collagen-induced arthritis, rheumatoid arthritis, congenic mice, immune cell development, immune function, genetic susceptibility, transcriptional regulation
- MeSH terms
- Genetic Background, Animals, Arthritis, Experimental, Arthritis, Rheumatoid, Autoantibodies, Disease Models, Animal, Disease Susceptibility, Genotype, Humans, Polymorphism, Genetic, Genetic Predisposition to Disease, Mice, Congenic, Mice, Genetic Association Studies, Mediator Complex
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