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Polymorphisms in the gene encoding thymus-specific serine protease in the extended HLA complex: a potential candidate gene for autoimmune and HLA-associated diseases

Genes & Immunity volume 3, pages 306–312 (2002)Cite this article

Abstract

Positive selection plays a role, together with negative selection, in the prevention of autoimmunity. Thymus-specific serine protease is highly expressed in the thymus and is believed to be involved in positive selection of T cells. The gene encoding thymus-specific serine protease (PRSS16) maps to the extended HLA complex, which harbours several genes predisposing for autoimmune diseases. Here we report the results of scanning the genetic region containing PRSS16 for polymorphisms. Twenty-two polymorphisms were identified, including one missense polymorphism, one deletion leading to elimination of five amino acids, as well as several SNPs in the promoter region.

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Acknowledgements

We thank Sophie Birkelund for excellent technical assistance.

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Authors and Affiliations

  1. Institute of Immunology, Rikshospitalet University Hospital, Oslo, N-0027, Norway

    B A Lie, H E Akselsen, E Thorsby & D E Undlien

  2. Department of Internal Medicine, University of California Davis Medical Center, Sacramento, 95817, CA, USA

    C L Bowlus

  3. Department of Pediatrics, Yale Child Health Research Center, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06520–8081, USA

    J R Gruen

Authors
  1. B A Lie
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  2. H E Akselsen
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  3. C L Bowlus
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  4. J R Gruen
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  5. E Thorsby
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  6. D E Undlien
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Corresponding author

Correspondence to B A Lie.

Additional information

The Juvenile Diabetes Foundation (1–2000–514 and 3–2000–515), the Norwegian Diabetes Association, the Norwegian Research Council, the University of Oslo and the Novo Nordisk Foundation supported this work. Support for JRG is from the Charles H Hood Foundation. The Norwegian Study Group for Childhood Diabetes, the Norwegian Cancer Society and the Norwegian Bone Marrow Donor Registry are greatly acknowledged for the collection of samples.

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Lie, B., Akselsen, H., Bowlus, C. et al. Polymorphisms in the gene encoding thymus-specific serine protease in the extended HLA complex: a potential candidate gene for autoimmune and HLA-associated diseases. Genes Immun 3, 306–312 (2002). https://doi.org/10.1038/sj.gene.6363858

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  • DOI: https://doi.org/10.1038/sj.gene.6363858

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