Molecular variations in Th1-specific cell surface gene Tim-3.
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.
Chae
Soo-Cheon
SC
Genome Research Center for Immune Disorders, Wonkwang University School of Medicine, Iksan Chonbuk 570-749, Korea.
Song
Ju-Hee
JH
Pounsambath
Pann
P
Yuan
Hai-Ying
HY
Lee
Jae-Hoon
JH
Kim
Jeong-Joong
JJ
Lee
Yong-Chul
YC
Chung
Hun-Taeg
HT
D001249:Asthma / Q000235:genetics; D005091:Exons / Q000235:genetics; D005787:Gene Frequency / Q000235:genetics; D000072597:Hepatitis A Virus Cellular Receptor 2; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics; D011991:Receptors, Virus; D012130:Respiratory Hypersensitivity / Q000235:genetics*; D012221:Rhinitis, Allergic, Perennial / Q000235:genetics; D018417:Th1 Cells / Q000378:metabolism
C448908:HAVCR2 protein, human; D000072597:Hepatitis A Virus Cellular Receptor 2; D008565:Membrane Proteins; D011991:Receptors, Virus