Analysis of polymorphic sites in the promoter of the nitric oxide synthase 2 gene

Valentina Coia, Simone Jüliger, Benjamin Mordmüller, Andrea Kreidenweis, Anna Lena Stroh, Claudia Ortega, Alessandro Vindigni, Jörn Dengjel, Dmitry V. Lukyanov, Giovanni Destro-Bisol, Anton Fedorov, Olga I. Podgornaya, Jürgen F.J. Kun

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Abstract

A point mutation (G → C) in the gene promoter for the human nitric oxide synthase (NOS) 2 at position -954 is associated with protection against severe Plasmodium falciparum malaria in Gabon. Carriers of this mutation show higher basal levels of nitric oxide production than wild type individuals. To obtain information about the possible binding transcription factors, nucleic proteins from the lung carcinoma cell line were enriched by affinity chromatography using DEAE-Sepharose and immobilized oligonucleotides derived from the promoter sequence. A mutational analysis was performed on 30 samples to detect polymorphisms in the NOS2 promoter region that contains important NF-κB sites. Three point mutations were identified in this region. In vitro studies with promoter constructs showed an altered expression of the marker gene depending on the promoter variant used.

Original languageEnglish
Pages (from-to)1123-1131
Number of pages9
JournalBiochemical and Biophysical Research Communications
Volume335
Issue number4
DOIs
StatePublished - Oct 7 2005

Keywords

  • Ku70/86
  • Mass spectrometric sequencing
  • Nitric oxide synthases
  • α-Actinin-4

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    Coia, V., Jüliger, S., Mordmüller, B., Kreidenweis, A., Stroh, A. L., Ortega, C., Vindigni, A., Dengjel, J., Lukyanov, D. V., Destro-Bisol, G., Fedorov, A., Podgornaya, O. I., & Kun, J. F. J. (2005). Analysis of polymorphic sites in the promoter of the nitric oxide synthase 2 gene. Biochemical and Biophysical Research Communications, 335(4), 1123-1131. https://doi.org/10.1016/j.bbrc.2005.07.178