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Anthrax Susceptibility: Human Genetic Polymorphisms Modulating ANTXR2 Expression

Beijing Institute of Biotechnology, No. 20, Dongdajie str., Fengtai District, Beijing 100071, China
Authors to whom correspondence should be addressed.
Academic Editor: Shihui Liu
Received: 11 September 2015 / Revised: 29 November 2015 / Accepted: 9 December 2015 / Published: 22 December 2015
(This article belongs to the Collection Anthrax Toxins)
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Anthrax toxin causes anthrax pathogenesis and expression levels of ANTXR2 (anthrax toxin receptor 2) are strongly correlated with anthrax toxin susceptibility. Previous studies found that ANTXR2 transcript abundance varies considerably in individuals of different ethnic/geographical groups, but no eQTLs (expression quantitative trait loci) have been identified. By using 3C (chromatin conformation capture), CRISPR-mediated genomic deletion and dual-luciferase reporter assay, gene loci containing cis-regulatory elements of ANTXR2 were localized. Two SNPs (single nucleotide polymorphism) at the conserved CREB-binding motif, rs13140055 and rs80314910 in the promoter region of the gene, modulating ANTXR2 promoter activity were identified. Combining these two regulatory SNPs with a previously reported SNP, rs12647691, for the first time, a statistically significant correlation between human genetic variations and anthrax toxin sensitivity was observed. These findings further our understanding of human variability in ANTXR2 expression and anthrax toxin susceptibility. View Full-Text
Keywords: ANTXR2; anthrax toxin; gene transcription; genetic polymorphism; gene structure ANTXR2; anthrax toxin; gene transcription; genetic polymorphism; gene structure

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Zhang, Z.; Zhang, Y.; Shi, M.; Ye, B.; Shen, W.; Li, P.; Xing, L.; Zhang, X.; Hou, L.; Xu, J.; Zhao, Z.; Chen, W. Anthrax Susceptibility: Human Genetic Polymorphisms Modulating ANTXR2 Expression. Toxins 2016, 8, 1.

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