Molecular characterization of regulatory polymorphisms in the promoter region of the STAT6 gene in a Gabonese population
Mem. Inst. Oswaldo Cruz
; 106(1): 65-69, Feb. 2011. ilus, graf, tab
Artigo
em Inglês
| LILACS
| ID: lil-578819
Biblioteca responsável:
BR1.1
ABSTRACT
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.
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Assunto principal:
Doenças Parasitárias
/
Regiões Promotoras Genéticas
/
Polimorfismo de Nucleotídeo Único
Tipo de estudo:
Estudo prognóstico
Limite:
Humanos
País/Região como assunto:
África
Idioma:
Inglês
Revista:
Mem. Inst. Oswaldo Cruz
Assunto da revista:
Medicina Tropical
/
Parasitologia
Ano de publicação:
2011
Tipo de documento:
Artigo
País de afiliação:
Brasil
/
Alemanha
Instituição/País de afiliação:
University of Tübingen/DE