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

B. A. Lie, H. E. Akselsen, Christopher Bowlus, J. R. Gruen, E. Thorsby, D. E. Undlien

Research output: Contribution to journalArticle

16 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)306-312
Number of pages7
JournalGenes and Immunity
Volume3
Issue number5
DOIs
StatePublished - Aug 2002

Keywords

  • Extended HLA complex
  • Polymorphisms
  • PRSS16
  • Serine protease
  • Thymus

ASJC Scopus subject areas

  • Genetics(clinical)
  • Immunology
  • Genetics

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