Molecular variations in the promoter and coding regions of human Tim-1 gene and their association in Koreans with asthma
Molecular variations in the promoter and coding regions of human Tim-1 gene and their association in Koreans with asthma
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DOI：
10.1016/j.humimm.2003.09.011
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发表时间：
2003-12-01
期刊：
影响因子：
2.7
通讯作者：
Chung, HT
中科院分区：
文献类型：
--
作者：
Chae, SC;Song, JH;Chung, HT
T细胞免疫球蛋白结构域和粘蛋白结构域（TIM）蛋白家族被鉴定为在T细胞上表达。TIM-1是Tim家族的成员之一，被认为是与辅助性T细胞（Th 2）偏向性免疫应答的发展相关的膜蛋白，并且可能选择性地在Th 2细胞上表达。在本研究中，我们进行了单核苷酸多态性（SNP）的人Tim-1基因的编码区和启动子区的扫描。我们共鉴定了10个SNPs，其中包括5个新的SNPs。（-1166 C>G，-416 G>C，-232 A>G，5365 C>T，5529 A>G），一个新的变异位点Tim-1基因启动子区有3个突变（-2278_-2276dupATT），外显子4有3个突变（5383_5397del、5387_5389insAAC和5509_5511delCAA）。提示Tim-1基因第4外显子变异位点与变态反应性疾病的易感性有关。Human Immunology 64，1177-1182（2003）. (C)美国组织相容性和免疫遗传学学会，2003年。爱思唯尔公司出版
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-1, was considered as a membrane protein that is associated with the development of helper T cell (Th2) biased immune responses, and may be selectively expressed on Th2 cells. In the present study we performed single nucleotide polymorphism (SNP) scanning of the coding and promoter regions of human Tim-1 gene. We identified a total of ten SNPs including five novel SNPs (-1166C>G, -416G>C, -232A>G, 5365C>T, and 5529A>G) in the coding and promoter regions, one novel variation site (-2278_-2276dupATT) in the promoter region and three variations (5383_5397del, 5387_5389insAAC, and 5509_5511delCAA) in exon 4 of human Tim-1 gene. Our results suggest that the exon 4 variation site in human Tim-1 gene is associated with the susceptibility of allergic disease. Human Immunology 64, 1177-1182 (2003). (C) American Society for Histocompatibility and Immunogenetics, 2003. Published by Elsevier Inc.