Exp Mol Med.
2004 Jun;36(3):274-278.
Molecular variations in Th1-specific cell surface gene Tim-3
- Affiliations
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- 1Genome Research Center for Immune Disorders, Wonkwang University School of Medicine, Iksan, Chonbuk 570-749, Korea. htchung@wonkwang.ac.kr
- 2Department of Otolaryngology, Wonkwang University School of Medicine, Iksan, Chonbuk 570-749, Korea.
- 3Department of Anatomy, Wonkwang University School of Medicine, Iksan, Chonbuk 570-749, Korea.
- 4Department of Internal Medicine, Research Center for Allergic Immune Diseases, Chonbuk National University Medical School, Chonju, Chonbuk 560-180, Korea.
- 5Department of Microbiology and Immunology, Wonkwang University School of Medicine, Iksan, Chonbuk 570-749, Korea.
Abstract
- 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.
Keyword
MeSH Terms
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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
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