Preliminary characterisation of the promoter of the human p22phox gene: identification of a new polymorphism associated with hypertension
Palabras clave : 
Hypertension
NAD(P)H oxidase
Polymorphism
Promoter
Fecha de publicación: 
2003
Editorial : 
Elsevier Science B.V
ISSN: 
1873-3468
Cita: 
Moreno MU, San José G, Orbe J, Páramo JA, Beloqui O, Díez J, et al. Preliminary characterisation of the promoter of the human p(22phox) gene: identification of a new polymorphism associated with hypertension. FEBS Lett 2003 MAY 8;542(1-3):27-31.
Resumen
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, gamma-interferon and nuclear factor kappaB 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.

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2003 Moreno et al FEBS 2003.pdf
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