TY - JOUR
T1 - Analysis of polymorphic sites in the promoter of the nitric oxide synthase 2 gene
AU - Coia, Valentina
AU - Jüliger, Simone
AU - Mordmüller, Benjamin
AU - Kreidenweis, Andrea
AU - Stroh, Anna Lena
AU - Ortega, Claudia
AU - Vindigni, Alessandro
AU - Dengjel, Jörn
AU - Lukyanov, Dmitry V.
AU - Destro-Bisol, Giovanni
AU - Fedorov, Anton
AU - Podgornaya, Olga I.
AU - Kun, Jürgen F.J.
N1 - Funding Information:
We thank Andrea Weierich and Silvelia Grummes for running the DNA sequencer. This project obtained financial support from the fortüne programme of the Medical Faculty of the University of Tübingen, the European Commission (QLK2-CT-2001-60035), and the National Genome Network (01GS0114).
PY - 2005/10/7
Y1 - 2005/10/7
N2 - 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.
AB - 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.
KW - Ku70/86
KW - Mass spectrometric sequencing
KW - Nitric oxide synthases
KW - α-Actinin-4
UR - http://www.scopus.com/inward/record.url?scp=24044440956&partnerID=8YFLogxK
U2 - 10.1016/j.bbrc.2005.07.178
DO - 10.1016/j.bbrc.2005.07.178
M3 - Article
C2 - 16105645
AN - SCOPUS:24044440956
SN - 0006-291X
VL - 335
SP - 1123
EP - 1131
JO - Biochemical and Biophysical Research Communications
JF - Biochemical and Biophysical Research Communications
IS - 4
ER -