Identification of three new single nucleotide polymorphisms in the human tumor necrosis factor-α gene promoter
| Autor: | Edmond J. Yunis, Julio C. Delgado, Daniel L. Hartl, Andanne E. Goldfeld, F. E. McKenzie, Patricia A. Pesavento, Adele M. Uglialoro, John G. Gribben, David Turbay |
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| Rok vydání: | 1998 |
| Předmět: |
Molecular Sequence Data
Immunology Single-nucleotide polymorphism Human leukocyte antigen Major histocompatibility complex Biochemistry Linkage Disequilibrium White People Article Cell Line Major Histocompatibility Complex Mice Gene expression Tumor Cells Cultured Genetics Animals Humans Immunology and Allergy Genetic Predisposition to Disease Promoter Regions Genetic Gene Messenger RNA Polymorphism Genetic Base Sequence biology Tumor Necrosis Factor-alpha Haplotype Promoter General Medicine Molecular biology Haplotypes biology.protein Cambodia |
| Zdroj: | Tissue Antigens. 52:359-367 |
| ISSN: | 1399-0039 0001-2815 |
| DOI: | 10.1111/j.1399-0039.1998.tb03056.x |
| Popis: | We have identified three new human tumor necrosis factor-alpha (TNF-alpha) promoter polymorphisms with single nucleotide (nt) substitutions at -862, -856, and -574 nt relative to the TNF-alpha transcription start site. The -862 and -856 nt TNF-alpha promoter polymorphisms occur with high frequency in Caucasian and Cambodian individuals and are each non-randomly associated with three extended HLA haplotypes. This study, in which 61 independent TNF-alpha promoters were analyzed spanning from -977 to +93 nt relative to the TNF-alpha mRNA cap site, establishes a new canonical TNF-alpha promoter sequence. Furthermore, we show that none of the three novel polymorphisms at -862, -856 and -574 nt or polymorphisms previously described at positions -238, -308 and +70 have an effect upon TNF-alpha gene expression in activated lymphocytes. Thus, these TNF-alpha promoter polymorphisms likely serve as markers for neighboring genes encoding HLA or other undefined molecules in the MHC that may influence disease susceptibility. |
| Databáze: | OpenAIRE |
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