Detection of new biallelic polymorphisms in the human MxA gene.

Detection of new biallelic polymorphisms in the human MxA gene.
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DOI:
10.1007/s11033-012-1708-7
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发表时间:
2012-08
影响因子:
2.8
通讯作者:
Cornet A
Cornet A
中科院分区:
生物学4区
文献类型:
--
作者:
Duc TT;Farnir F;Michaux C;Desmecht D;Cornet A

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干扰素诱导的人MxA蛋白在对一系列病毒的先天防御中起重要作用。人们可能期望MxA位点的等位基因多样性会影响其表达的时间和幅度,甚至影响其生物周期被编码产物抑制的病毒的范围。在这里,我们从三个不同的人群(欧洲、亚洲和非洲)收集了267个基因组DNA样本,并对MxA基因的启动子及其17个外显子进行了系统测序,以确定其等位基因变异。检测到18个单核苷酸多态性,其中4个以前从未发现过。其中两个位于启动子(分别位于- 309和- 101位置),可能会影响MxA的表达模式。另外两种基因在蛋白质的n端区域产生替换(Gly255Glu和Val268Met),这可能直接影响其抗病毒功能。本文的在线版本(doi:10.1007/s11033-012-1708-7)包含补充内容,仅供授权用户使用。
The interferon-inducible human MxA protein plays an important role in innate defense against an array of viruses. One might expect allelic diversity at the MxA locus to influence the timing and magnitude of its expression or even the range of viruses whose biological cycle is inhibited by the encoded product. Here we have collected 267 samples of genomic DNA from three distinct populations (European, Asian, and African) and have systematically sequenced the promoter of the MxA gene and its 17 exons in order to inventory its allelic variants. Eighteen single-nucleotide polymorphisms were detected, four of which had never been identified before. Two of these, located in the promoter (at positions −309 and −101 respectively), might affect the MxA expression pattern. The other two result in substitutions (Gly255Glu and Val268Met) in the protein’s N-terminal region that might directly affect its antiviral function. The online version of this article (doi:10.1007/s11033-012-1708-7) contains supplementary material, which is available to authorized users.
DOI: 10.1073/pnas.89.22.10915
发表时间: 1992-11-15
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