Sequence analysis of the DRB1 promoter reveals limited polymorphism with no influence on gene expression
Sequence analysis of the DRB1 promoter reveals limited polymorphism with no influence on gene expression
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DOI：
10.1038/sj.gene.6363769
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发表时间：
2001-06-01
影响因子：
5
通讯作者：
Höhler, T
中科院分区：
文献类型：
--
作者：
Kruger, A;Quack, P;Höhler, T
hla II类启动子包含一组保守的调控区域，这些区域是组成型和诱导型基因表达所必需的。对于HLA-DQB和DRB1启动子序列，已经报道了影响基因表达的多态性。与这些数据相反，我们可以表明HLA-DRB1启动子等位基因之间存在非常有限的等位基因特异性多态性。在长距离PCR中，我们扩增了包含启动子和DRB1基因第二外显子的DNA序列。启动子和第二外显子的巢式PCR产物通过DNA测序进行分析，以允许启动子与其DR等位基因的连锁。除了两个点突变外，大多数研究的DRB1等位基因表现出相同的启动子一致序列。A到T翻转（位置-70 bp）与DRB1*08密切相关，而c缺失（位置-30 bp）与DRB1*10最常见。在荧光素酶报告基因检测中，这两种多态性不影响启动子活性。
HLA-class II promoters contain a set of conserved regulatory regions necessary for constitutive and induced gene expression. For the HLA-DQB as well as for the DRB1 promoter sequence, polymorphisms with influence on gene expression have been reported. In contrast to these data we could show that there is very limited allele-specific polymorphism among the HLA-DRB1 promoter alleles. In a long range PCR we amplified a DNA sequence containing the promoter and the second exon of the DRB1 gene in one fragment. Nested PCR products of this PCR fragment for the promoter and for the second exon were analysed by DNA sequencing to allow the linkage of a promoter to ifs DR allele. Most investigated DRB1 alleles exhibited the same promoter consensus sequence except for two point mutations. An A to T transversion (position -70 bp) was closely associated with DRB1*08, whereas a C-deletion (position -30 bp) was most commonly observed together with DRB1*10. Both polymorphisms did not influence promoter activity in luciferase reporter gene assays.