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Identification and functional characterization of polymorphisms in promoter sequences of porcine NOD1 and NOD2 genes

Domínguez, Miguel A., Landi, Vincenzo, Morera, Luis, Martínez, Amparo, Jiménez-Marín, Ángeles, Garrido, Juan J.
Research in veterinary science 2019 v.124 pp. 310-316
Toll-like receptors, alleles, bacteria, cytoplasm, genetic variation, innate immunity, intracellular signaling peptides and proteins, ligands, luciferase, monitoring, pathogens, promoter regions, reporter genes, single nucleotide polymorphism, swine
NOD-like receptors (NLRs) play a key role in the innate immune system, acting as a second line of surveillance against pathogens. NLRs detect particular bacteria that have gained access to the cytoplasm, evading recognition by other pattern recognition receptors, such as Toll-like receptors. It has been demonstrated that coding sequence-single nucleotide polymorphisms may alter the ligand recognition ability of NLRs, affecting their pathogen-sensing function. However, there have been no data relating to the identification and functional analysis of SNPs in porcine NLR promoters. We examined the promoter sequences of the porcine NOD1 and NOD2 genes with the aim to identify and to evaluate the effect of genetic variations on promoter activity. Six SNPs in NOD1 and three SNPs in NOD2 were identified. Luciferase reporter gene assays showed significant differences in promoter activity between allele variants of NOD1 -920G>A (NC_010460.4:g.42431413G>A) and NOD2 -1670G>A (NC_010448.4:g.34169122T>C) SNPs. The results suggest that promoter polymorphisms could modify the expression levels of porcine NOD1 and NOD2 genes.