Detection of new biallelic polymorphisms in the human MxA gene

Duc, Tam Tran Thi; Farnir, Frédéric; Michaux, Charles; Desmecht, Daniel; Cornet, Anne

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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s11033-012-1708-7) contains supplementary material, which is available to authorized users.