title: Two new polymorphisms in the human interferon gamma (IFN-gamma) promoter.
abstract: Two new single-nucleotide polymorphisms are described within the human interferon gamma (IFN-gamma) promoter in a Sudanese population. One is a G to T transition at position -183 from the transcription start. The other is a A to G transition at position -155. Allelic frequency analysis indicated frequencies of 0.927 (G) and 0.073 (T) at position -183 and 0.977 (A) and 0.023 (G) at position -155. These two polymorphisms have not been detected in the Centre d'Etude du Polymorphisme Humain (CEPH) reference population. The polymorphism -183(G-->T) may alter the AP-1 binding domain and the regulation of transcription. The polymorphism -155(A-->G) is located close to the nuclear factor-activated T-cell site (NFAT site) (-168 TAAAGGAAA-160) and may affect the stability of this region.
authors.affiliation: INSERM U399, Immunology and Genetics of Parasitic Diseases, Faculty of Medicine, 27 boulevard Jean Moulin, 13385 Marseille Cedex, France. christophe.chevillard@medecine.university-mrs.fr
authors.forename: C
authors.initials: C
authors.lastname: Chevillard
authors.forename: S
authors.initials: S
authors.lastname: Henri
authors.forename: F
authors.initials: F
authors.lastname: Stefani
authors.forename: D
authors.initials: D
authors.lastname: Parzy
authors.forename: A
authors.initials: A
authors.lastname: Dessein
mesh_terms: D018912:Arabs; D001483:Base Sequence; D004247:DNA; D005786:Gene Expression Regulation; D006801:Humans; D007371:Interferon-gamma / Q000235:genetics*; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D013397:Sudan
chemical_list: D007371:Interferon-gamma; D004247:DNA