A naturally occurring variant in human TLR9, P99L, is associated with loss of CpG oligonucleotide responsiveness.

ABSTRACT: The innate immune system employs Toll-like receptors (TLRs) for the detection of invading microorganisms based on distinct molecular patterns. For example, TLR9 is activated by microbial DNA and also by short therapeutic CpG-containing oligonucleotides (CpG-ODN). TLR9 activation leads to the production of interferons and the priming of humoral adaptive immune responses. Unfortunately, the principles of ligand recognition by TLR9 are poorly understood, and genetic variants of TLR9, which may affect its function, have not been characterized systematically on the molecular level. We therefore sought to functionally characterize reported single nucleotide polymorphisms of TLR9 in the HEK293 model system. We discovered that two variants, P99L and M400I, are associated with altered receptor func

SUBMITTER: Kubarenko AV 

PROVIDER: S-EPMC2978577 | biostudies-literature | 2010 Nov

REPOSITORIES: biostudies-literature