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Preliminary characterisation of the promoter of the human p22 phox gene: identification of a new polymorphism associated with hypertension
Author(s) -
Moreno Marı́a U,
San José Gorka,
Orbe Josune,
Páramo José A,
Beloqui Oscar,
Dı́ez Javier,
Zalba Guillermo
Publication year - 2003
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/s0014-5793(03)00331-4
Subject(s) - promoter , microbiology and biotechnology , gene , start codon , allele , biology , genetics , tata box , exon , gene expression , messenger rna
The p22 phox subunit is an essential protein in the activation of NAD(P)H oxidase. Here we report the preliminary characterisation of the human p22 phox gene promoter. The p22 phox promoter contains TATA and CCAC boxes and Sp1, γ‐interferon and nuclear factor κB sites. We screened for mutations in the p22 phox promoter and identified a new polymorphism, localised at position −930 from the ATG codon, which was associated with hypertension. Mutagenesis experiments showed that the G allele had higher promoter activity than the A allele. These results suggest that the −930 A/G polymorphism in the p22 phox promoter may be a novel genetic marker associated with hypertension.