Molecular characterization of regulatory polymorphisms in the promoter region of the STAT6 gene in a Gabonese population
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...
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Language: | English |
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Fundação Oswaldo Cruz (FIOCRUZ)
2011-02-01
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Series: | Memorias do Instituto Oswaldo Cruz |
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Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0074-02762011000100011&lng=en&tlng=en |
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author | Thirumalaisamy Palanichamy Velavan Silke Bechlars Jürgen Tomiuk Peter G Kremsner Jürgen FJ Kun |
author_facet | Thirumalaisamy Palanichamy Velavan Silke Bechlars Jürgen Tomiuk Peter G Kremsner Jürgen FJ Kun |
author_sort | Thirumalaisamy Palanichamy Velavan |
collection | DOAJ |
description | 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. |
first_indexed | 2024-03-12T08:49:59Z |
format | Article |
id | doaj.art-7e16a744273d44588db9b213c92b6eeb |
institution | Directory Open Access Journal |
issn | 1678-8060 |
language | English |
last_indexed | 2024-03-12T08:49:59Z |
publishDate | 2011-02-01 |
publisher | Fundação Oswaldo Cruz (FIOCRUZ) |
record_format | Article |
series | Memorias do Instituto Oswaldo Cruz |
spelling | doaj.art-7e16a744273d44588db9b213c92b6eeb2023-09-02T16:22:02ZengFundação Oswaldo Cruz (FIOCRUZ)Memorias do Instituto Oswaldo Cruz1678-80602011-02-011061656910.1590/S0074-02762011000100011S0074-02762011000100011Molecular characterization of regulatory polymorphisms in the promoter region of the STAT6 gene in a Gabonese populationThirumalaisamy Palanichamy Velavan0Silke Bechlars1Jürgen Tomiuk2Peter G Kremsner3Jürgen FJ Kun4Institute for Tropical MedicineInstitute for Tropical MedicineEberhard Karls Universität TübingenInstitute for Tropical MedicineInstitute for Tropical MedicineParasites 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0074-02762011000100011&lng=en&tlng=enSTAT6polymorphismtransfectionregulatory T cells |
spellingShingle | Thirumalaisamy Palanichamy Velavan Silke Bechlars Jürgen Tomiuk Peter G Kremsner Jürgen FJ Kun Molecular characterization of regulatory polymorphisms in the promoter region of the STAT6 gene in a Gabonese population Memorias do Instituto Oswaldo Cruz STAT6 polymorphism transfection regulatory T cells |
title | Molecular characterization of regulatory polymorphisms in the promoter region of the STAT6 gene in a Gabonese population |
title_full | Molecular characterization of regulatory polymorphisms in the promoter region of the STAT6 gene in a Gabonese population |
title_fullStr | Molecular characterization of regulatory polymorphisms in the promoter region of the STAT6 gene in a Gabonese population |
title_full_unstemmed | Molecular characterization of regulatory polymorphisms in the promoter region of the STAT6 gene in a Gabonese population |
title_short | Molecular characterization of regulatory polymorphisms in the promoter region of the STAT6 gene in a Gabonese population |
title_sort | molecular characterization of regulatory polymorphisms in the promoter region of the stat6 gene in a gabonese population |
topic | STAT6 polymorphism transfection regulatory T cells |
url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0074-02762011000100011&lng=en&tlng=en |
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