Analysis of polymorphic sites in the promoter of the nitric oxide synthase 2 gene

Mechanisms of genetically-based resistance to malaria

“…The NOS2 encoding gene is localized in chromosome 17 and consists of 26 exons, its transcription site beginning in exon 2 and its stop codon in exon 26 (Chartrain et al, 1994;Coia et al, 2005).…”

Genetic polymorphisms in vitamin D receptor, vitamin D-binding protein, Toll-like receptor 2, nitric oxide synthase 2, and interferon-γ genes and its association with susceptibility to tuberculosis

“…The SNPs in the promoter region of the encoding gene (-954G→C, -1173C→T, -1659 A→T) have been shown to increase NO synthesis (40). This region in the human gene is situated from -0.7 to -2.6 kb upstream of the transcription start and contains important DNA motifs for binding of NF-κB, activator protein 1, signal transducer and activator of transcription protein 1, and NF-κB repressing factor (41). Another important region lies between -2.5 and -950 kb upstream, and is characterized by a number of polymorphic elements like SNPs and repeat regions.…”

Malaria severity and human nitric oxide synthase type 2 (NOS2) promoter haplotypes

“…Prior studies using luciferase reporter construct assays that included the proximal 7.2 kb region of the NOS2 promoter indicated that the G-954C SNP does not alter NOS2 promoter function (Coia et al 2005). To test the functional relevance of NOS2 promoter SNPs, we cloned the proximal 7.3 kb region of the NOS2 promoter into a pGL4 luciferase construct and introduced the G-954C, C-1173T, G-1459A and T-5091C SNPs using site-directed mutagenesis.…”