MHC2TA基因中的单核苷酸多态性，该基因编码MHC II类反式激活因子（CIITA）。
Single nucleotide polymorphisms in MHC2TA, the gene encoding the MHC class II transactivator (CIITA).
作者信息
Patarroyo J C, Stuve O, Piskurich J F, Hauser S L, Oksenberg J R, Zamvil S S
机构信息
Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA.
出版信息
Genes Immun. 2002 Feb;3(1):34-7. doi: 10.1038/sj.gene.6363808.
The MHC class II transactivator (CIITA) is the master regulator for HLA-D (DP, DQ, DR) gene expression. In this report the coding and promoter regions of the CIITA gene, MHC2TA, were evaluated for polymorphisms in 50 normal Caucasian individuals. Allele frequencies were obtained for four separate single nucleotide (nt) polymorphisms (SNPs) identified in the MHC2TA coding region: nt 1614 (C-->G), nt 2509 (G-->A), nt 2536 (T-->G), and nt 2791 (G-->A). MHC2TA sequence analysis of 100 chromosomes from these 50 individuals revealed a SNP in MHC2TA promoter (p) III at nt (-)155 (A-->G), but none in CIITA pI or pIV. In addition, we demonstrate the presence of splice variant at a previously undiscovered intron, accounting for a three nt (TAG) insertion at position 474 that was originally described in association with one of the disease-causing CIITA cDNA mutations in bare lymphocyte syndrome.
MHC II类反式激活因子（CIITA）是HLA-D（DP、DQ、DR）基因表达的主要调节因子。在本报告中，对50名正常白种人的CIITA基因（MHC2TA）的编码区和启动子区进行了多态性评估。获得了在MHC2TA编码区鉴定出的四个单独的单核苷酸（nt）多态性（SNP）的等位基因频率：nt 1614（C→G）、nt 2509（G→A）、nt 2536（T→G）和nt 2791（G→A）。对这50名个体的100条染色体进行的MHC2TA序列分析显示，MHC2TA启动子（p）III中在nt（-）155处存在一个SNP（A→G），但在CIITA pI或pIV中未发现。此外，我们证实在一个先前未发现的内含子处存在剪接变体，这导致在位置474处有一个三核苷酸（TAG）插入，该插入最初是在与裸淋巴细胞综合征中一种致病CIITA cDNA突变相关的情况下被描述的。
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