Molecular characterization of regulatory polymorphisms in the promoter region of the STAT6 gene in a Gabonese population
Autor: | Silke Bechlars, Peter G. Kremsner, Thirumalaisamy P. Velavan, Jürgen F. J. Kun, Jürgen Tomiuk |
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Jazyk: | angličtina |
Rok vydání: | 2011 |
Předmět: |
Microbiology (medical)
lcsh:Arctic medicine. Tropical medicine Genotype lcsh:RC955-962 Population lcsh:QR1-502 Single-nucleotide polymorphism Biology Marker gene Polymorphism Single Nucleotide T-Lymphocytes Regulatory lcsh:Microbiology regulatory T cells polymorphism STAT6 Gene Parasitic Diseases Gene family Humans Gabon education Promoter Regions Genetic Gene Alleles STAT6 Genetics education.field_of_study Promoter Gene Expression Regulation transfection STAT6 Transcription Factor |
Zdroj: | Memórias do Instituto Oswaldo Cruz, Volume: 106, Issue: 1, Pages: 65-69, Published: FEB 2011 Memórias do Instituto Oswaldo Cruz., Vol 106, Iss 1, Pp 65-69 (2011) |
Popis: | Parasites remain competent invaders of host immunity. Their invasion strategies have proven to impact immunorelevant genes leading to diversity among gene families. We focussed on signal transducer and activator of transcription (STAT6) factor that plays a fundamental role in signal transduction and activation of transcription. Recent studies have highlighted the role of STAT6 variants in control of infection levels. We identified and investigated regulatory single nucleotide polymorphisms (SNPs) in the promoter regions of the STAT6 gene in a group of Gabonese individuals exposed to a variety of parasitic infections. Three promoter variants were identified in 40 individual subjects. We further validated these promoter variants for their allelic gene expression using transient transfection assays. One promoter variant, rs3024944 (G/C), revealed an altered expression of the marker gene. The identification of function-altering SNPs in the promoter may facilitate studying parasite susceptibility in association studies. |
Databáze: | OpenAIRE |
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