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(5): 306-12, 2002 Aug.
Article
in En
| MEDLINE
| ID: mdl-12140752
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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Database:
MEDLINE
Main subject:
Polymorphism, Genetic
/
Autoimmune Diseases
/
Serine Endopeptidases
/
HLA Antigens
Type of study:
Risk_factors_studies
Limits:
Humans
Language:
En
Year:
2002
Type:
Article