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Identification and characterization of a loss-of-function human MPYS variant.


ABSTRACT: MPYS, also known as STING and MITA, is an interferon (IFN)? stimulator essential for host defense against RNA, DNA viruses and intracellular bacteria. MPYS also facilitates the adjuvant activity of DNA vaccines. Here, we report identification of a distinct human MPYS haplotype that contains three non-synonymous single nucleotide polymorphisms (SNPs), R71H-G230A-R293Q (thus, named the HAQ haplotype). We estimate, in two cohorts (1,074 individuals), that ?3% of Americans are homozygous for this HAQ haplotype. HAQ MPYS exhibits a > 90% loss in the ability to stimulate IFN? production. Furthermore, fibroblasts and macrophage cells expressing HAQ are defective in Listeria monocytogenes infection-induced IFN? production. Lastly, we find that the loss of IFN? activity is due primarily to the R71H and R293Q SNPs in HAQ. We hypothesize that individuals carrying HAQ may exhibit heightened susceptibility to viral infection and respond poorly to DNA vaccines.

SUBMITTER: Jin L 

PROVIDER: S-EPMC3107388 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature

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Identification and characterization of a loss-of-function human MPYS variant.

Jin L L   Xu L-G LG   Yang I V IV   Davidson E J EJ   Schwartz D A DA   Wurfel M M MM   Cambier J C JC  

Genes and immunity 20110120 4


MPYS, also known as STING and MITA, is an interferon (IFN)β stimulator essential for host defense against RNA, DNA viruses and intracellular bacteria. MPYS also facilitates the adjuvant activity of DNA vaccines. Here, we report identification of a distinct human MPYS haplotype that contains three non-synonymous single nucleotide polymorphisms (SNPs), R71H-G230A-R293Q (thus, named the HAQ haplotype). We estimate, in two cohorts (1,074 individuals), that ∼3% of Americans are homozygous for this HA  ...[more]

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