1.Molecular variations in Th1-specific cell surface gene Tim-3.
Soo Cheon CHAE ; Ju Hee SONG ; Pann POUNSAMBATH ; Hai Ying YUAN ; Jae Hoon LEE ; Jeong Joong KIM ; Yong Chul LEE ; Hun Taeg CHUNG
Experimental & Molecular Medicine 2004;36(3):274-278
The family of T-cell immunoglobulin domain and mucin domain (TIM) proteins is identified to be expressed on T cells. A member of Tim family, Tim-3 (T cell immunoglobulin mucin 3) is selectively expressed on the surface of differentiated Th1 cells. Tim-3 might have an important role in the induction of autoimmune diseases by regulating macrophage activation and interacts with Tim-3 ligand to regulate Th1 responses. To determine the variation sites in the coding and promoter region of human Tim-3 gene, we performed variation scanning by direct sequencing using the genomic DNA isolated from the patients with asthma or allergic rhinitis and healthy controls without asthma and allergic rhinitis. We identified four single nucleotide polymorphisms (SNPs) including one novel SNPs (-1541C>T) and two variation sites (-1292_-1289delTAAA and -1282_-1278dupTAAAA) in the coding and promoter region of human Tim-3 gene in both the patients and healthy groups.
Asthma/genetics
;
Exons/genetics
;
Gene Frequency/genetics
;
Humans
;
Membrane Proteins/*genetics/metabolism
;
Polymorphism, Single Nucleotide/*genetics
;
Promoter Regions (Genetics)/genetics
;
Research Support, Non-U.S. Gov't
;
Respiratory Hypersensitivity/*genetics
;
Rhinitis, Allergic, Perennial/genetics
;
Th1 Cells/metabolism