title: Gene structure and promoter variation of expressed and nonexpressed variants of the KIR2DL5 gene.
abstract: Two variants of the novel KIR2DL5 gene (KIR2DL5.1 and.2) were identified in genomic DNA of a single donor. However, only the KIR2DL5.1 variant was transcribed in PBMC. In this study, analysis of seven additional donors reveals two new variants of the KIR2DL5 gene and indicates that transcription, or its lack, are consistently associated with particular variants of this gene. Comparison of the complete nucleotide sequences of the exons and introns of KIR2DL5.1 and KIR2DL5.2 reveals no structural abnormalities, but similar open reading frames for both variants. In contrast, the promoter region of KIR2DL5 shows a high degree of sequence polymorphism that is likely relevant for expression. Substitution within a putative binding site for the transcription factor acute myeloid leukemia gene 1 could determine the lack of expression for some KIR2DL5 variants.
authors.affiliation: Departments of Structural Biology and Microbiology and Immunology, Stanford University School of Medicine, Stanford, CA 94305, USA.
authors.forename: C
authors.initials: C
authors.lastname: Vilches
authors.forename: C M
authors.initials: CM
authors.lastname: Gardiner
authors.forename: P
authors.initials: P
authors.lastname: Parham
mesh_terms: D001483:Base Sequence; D003001:Cloning, Molecular; D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins / Q000235:genetics; D005786:Gene Expression Regulation / Q000276:immunology*; D015972:Gene Expression Regulation, Neoplastic / Q000276:immunology; D005803:Genes, Immunoglobulin; D014644:Genetic Variation / Q000276:immunology*; D006801:Humans; D007694:Killer Cells, Natural / Q000378:metabolism*; D015470:Leukemia, Myeloid, Acute / Q000235:genetics / Q000276:immunology; D008969:Molecular Sequence Data; D009154:Mutation; D009363:Neoplasm Proteins / Q000096:biosynthesis / Q000235:genetics; D016366:Open Reading Frames / Q000276:immunology; D011401:Promoter Regions, Genetic / Q000276:immunology*; D011518:Proto-Oncogene Proteins; D011544:Pseudogenes / Q000276:immunology; D011971:Receptors, Immunologic / Q000096:biosynthesis* / Q000737:chemistry / Q000235:genetics* / Q000302:isolation & purification; D054340:Receptors, KIR; D012689:Sequence Homology, Nucleic Acid; D014157:Transcription Factors / Q000235:genetics; D014158:Transcription, Genetic / Q000276:immunology
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins; D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins; D011971:Receptors, Immunologic; D054340:Receptors, KIR; D014157:Transcription Factors