Lie B A, Akselsen H E, Bowlus C L, Gruen J R, Thorsby E, Undlien D E
Institute of Immunology, Rikshospitalet University Hospital, N-0027 Oslo, Norway.
Genes Immun. 2002 Aug;3(5):306-12. doi: 10.1038/sj.gene.6363858.
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.
阳性选择与阴性选择一起在预防自身免疫中发挥作用。胸腺特异性丝氨酸蛋白酶在胸腺中高度表达，被认为参与T细胞的阳性选择。编码胸腺特异性丝氨酸蛋白酶（PRSS16）的基因定位于扩展的HLA复合体，该复合体包含几个与自身免疫性疾病易感性相关的基因。在此，我们报告了对包含PRSS16的基因区域进行多态性扫描的结果。共鉴定出22种多态性，包括1种错义多态性、1种导致5个氨基酸缺失的缺失，以及启动子区域的几个单核苷酸多态性。
