title: Identification of novel single nucleotide substitutions in the NKp30 gene expressed in human natural killer cells.
abstract: Cytotoxicity of natural killer (NK) cells is regulated by a balance of signals from two kinds of NK receptors, activating receptors and inhibitory receptors. Natural cytotoxicity receptors (NCR) family, which consists of NKp30, NKp44 and NKp46, is a major human activating NK receptor. NKp30 has been mapped to the HLA class III region near tumor necrosis factor (TNF) family loci. We have analyzed the NKp30 gene of healthy Japanese and found two synonymous substitutions in the coding region, c.111G>A and c.156C>T, and also identified two single-nucleotide polymorphisms (SNPs) in the promotor region, -201G>A and -163G>C. Furthermore, it was confirmed that these polymorphisms of the NKp30 gene show strong linkage disequilibria with each other and with HLA-DRB1 or TNFA polymorphisms. Since susceptibilities to certain diseases were mapped near this region, the NKp30 polymorphisms could be useful genetic markers.
authors.affiliation: Department of Research, Japanese Red Cross Central Blood Center, Shibuya-ku, Tokyo, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Sato
authors.forename: J
authors.initials: J
authors.lastname: Ohashi
authors.forename: N
authors.initials: N
authors.lastname: Tsuchiya
authors.forename: K
authors.initials: K
authors.lastname: Tadokoro
authors.forename: T
authors.initials: T
authors.lastname: Juji
authors.forename: K
authors.initials: K
authors.lastname: Hanaoka
authors.forename: K
authors.initials: K
authors.lastname: Tokunaga
authors.forename: T
authors.initials: T
authors.lastname: Yabe
mesh_terms: D000483:Alleles; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007694:Killer Cells, Natural / Q000737:chemistry*; D008969:Molecular Sequence Data; D055628:Natural Cytotoxicity Triggering Receptor 3; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide; D011971:Receptors, Immunologic / Q000235:genetics*; D014409:Tumor Necrosis Factor-alpha
chemical_list: C431710:NCR3 protein, human; D055628:Natural Cytotoxicity Triggering Receptor 3; D011971:Receptors, Immunologic; D014409:Tumor Necrosis Factor-alpha