Novel transcriptional regulatory element in the phenylalanine hydroxylase gene intron 8

Maja Stojiljkovic; Branka Zukic; Natasa Tosic; Teodora Karan-Djurasevic; Vesna Spasovski; Gordana Nikcevic; Sonja Pavlovic

doi:10.1016/j.ymgme.2010.05.014

Novel transcriptional regulatory element in the phenylalanine hydroxylase gene intron 8

Mol Genet Metab. 2010 Sep;101(1):81-3. doi: 10.1016/j.ymgme.2010.05.014. Epub 2010 Jun 9.

Authors

Maja Stojiljkovic¹, Branka Zukic, Natasa Tosic, Teodora Karan-Djurasevic, Vesna Spasovski, Gordana Nikcevic, Sonja Pavlovic

Affiliation

¹ Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444a, Belgrade, Serbia. [email protected]

PMID: 20599406
DOI: 10.1016/j.ymgme.2010.05.014

Abstract

We present the first transcriptional regulatory element found in a PAH gene intron. The element is located in the PAH gene intron 8, acts as an enhancer specifically in the hepatoma cell line, and binds GATA-1 transcription factor. Herein the presented data could unlock a new area for the analysis of PAH gene expression and could contribute to refining genotype-phenotype correlation.

Publication types

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

MeSH terms

Cells, Cultured
GATA1 Transcription Factor / genetics
Introns / genetics*
Phenylalanine Hydroxylase / genetics*
Phenylalanine Hydroxylase / metabolism
Regulatory Sequences, Nucleic Acid / genetics*
Transcription, Genetic*
Transfection

Substances

GATA1 Transcription Factor
Phenylalanine Hydroxylase