Functional studies

SNPs in the promoter region may affect the expression of a gene either by creating or removing regulatory elements such as transcription factors binding sites, enhancer and response elements. Several of the variants in the 5’flanking regions in our present studies such as the Sp1 site of CYP17 or a pentanucleotide repeat of GSTP1 are currently investigated functionally. Assays such as EMSA, CHIP and luciferase reporter systems are used. In addition to genetic regulatory element epigenetic changes may also be influenced by SNPs. Extensive methylation of the promoter area of GSTP1 and exon 1 are observed in vivinity to the studied pentanucleotide repeat. GSTP1 plays a key role in regulating the Map kinase pathway via protein-protein interactions. GSTP1 is an inhibitor of c-Jun N-terminal kinase 1 (JNK1), a kinase involved in stress response, apoptosis and cellular proliferation (X).
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Key members: Jo Anders Rønneberg og Grethe I. Grenaker Alnæs

 
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