Partial characterisation of the human GFAT promoter: effect of single nucleotide polymorphisms on promoter function

Davina Burt; Katrin Brodbeck; Hans U Häring; Erwin D Schleicher; Cora Weigert

doi:10.1016/j.bbadis.2005.01.007

Partial characterisation of the human GFAT promoter: effect of single nucleotide polymorphisms on promoter function

Biochim Biophys Acta. 2005 Apr 15;1740(1):85-90. doi: 10.1016/j.bbadis.2005.01.007. Epub 2005 Feb 12.

Authors

Davina Burt¹, Katrin Brodbeck, Hans U Häring, Erwin D Schleicher, Cora Weigert

Affiliation

¹ Department of Endocrinology, Metabolism and Clinical Chemistry, University of Tuebingen, Germany.

PMID: 15878746
DOI: 10.1016/j.bbadis.2005.01.007

Abstract

The 5'-flanking region of the human glutamine:fructose-6-phosphate amidotransferase (GFAT) gene was characterised as a functional active promoter and the GFAT gene contained multiple transcription start sites. A novel single nucleotide polymorphism identified at position -1412 (G to C) had a functional effect on promoter activity and EMSA revealed specific binding of nuclear proteins to this region.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

5' Flanking Region / genetics
Base Sequence
Cell Line
Genes, Reporter
Glutamine-Fructose-6-Phosphate Transaminase (Isomerizing) / genetics*
Humans
Luciferases / analysis
Luciferases / genetics
Molecular Sequence Data
Polymorphism, Single Nucleotide*
Promoter Regions, Genetic / genetics*
Transcription Initiation Site*

Substances

Luciferases
GFPT1 protein, human
Glutamine-Fructose-6-Phosphate Transaminase (Isomerizing)