A common FADS2 promoter polymorphism increases promoter activity and facilitates binding of transcription factor ELK1

Lattka, E., Eggers, S., Moeller, G., Heim, K., Weber, M., Mehta, D., Prokisch, H., Illig, T. and Adamski, J. (2010) A common FADS2 promoter polymorphism increases promoter activity and facilitates binding of transcription factor ELK1. Journal of Lipid Research, 51 1: 182-191. doi:10.1194/jlr.M900289-JLR200

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Author Lattka, E.
Eggers, S.
Moeller, G.
Heim, K.
Weber, M.
Mehta, D.
Prokisch, H.
Illig, T.
Adamski, J.
Title A common FADS2 promoter polymorphism increases promoter activity and facilitates binding of transcription factor ELK1
Journal name Journal of Lipid Research   Check publisher's open access policy
ISSN 0022-2275
1539-7262
Publication date 2010
Year available 2010
Sub-type Article (original research)
DOI 10.1194/jlr.M900289-JLR200
Open Access Status File (Publisher version)
Volume 51
Issue 1
Start page 182
End page 191
Total pages 10
Place of publication Bethesda, MD United States
Publisher American Society for Biochemistry and Molecular Biology, Inc.
Collection year 2010
Language eng
Subject 1303 Specialist Studies in Education
1307 Cell Biology
1310 Endocrinology
Abstract Fatty acid desaturases (FADS) play an important role in the formation of omega-6 and omega-3 highly unsaturated fatty acids (HUFAs). The composition of HUFAs in the human metabolome is important for membrane fluidity and for the modulation of essential physiological functions such as inflammation processes and brain development. Several recent studies reported significant associations of single nucleotide polymorphisms (SNPs) in the human FADS gene cluster with HUFA levels and composition. The presence of the minor allele correlated with a decrease of desaturase reaction products and an accumulation of substrates. We performed functional studies with two of the associated polymorphisms (rs3834458 and rs968567) and showed an influence of polymorphism rs968567 on FADS2 promoter activity by luciferase reporter gene assays. Electrophoretic mobility shift assays proved allele-dependent DNA-binding ability of at least two protein complexes to the region containing SNP rs968567. One of the proteins binding to this region in an allele-specific manner was shown to be the transcription factor ELK1 (a member of ETS domain transcription factor family). These results indicate that rs968567 influences FADS2 transcription and offer first insights into the modulation of complex regulation mechanisms of FADS2 gene transcription by SNPs. Copyright
Keyword Delta 6 desaturase
Desaturation
Fatty acid metabolism
Single nucleotide polymorphism
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: Queensland Brain Institute Publications
 
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Created: Fri, 24 Oct 2014, 17:10:28 EST by Sylvie Pichelin on behalf of Queensland Brain Institute