Novel transcriptional regulatory element in the phenylalanine hydroxylase gene intron 8.
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.
Stojiljkovic
Maja
M
Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444a, Belgrade, Serbia. maja.stojiljkovic@imgge.bg.ac.rs
Zukic
Branka
B
Tosic
Natasa
N
Karan-Djurasevic
Teodora
T
Spasovski
Vesna
V
Nikcevic
Gordana
G
Pavlovic
Sonja
S
D002478:Cells, Cultured; D050982:GATA1 Transcription Factor / Q000235:genetics; D007438:Introns / Q000235:genetics*; D010651:Phenylalanine Hydroxylase / Q000235:genetics* / Q000378:metabolism; D012045:Regulatory Sequences, Nucleic Acid / Q000235:genetics*; D014158:Transcription, Genetic; D014162:Transfection
D050982:GATA1 Transcription Factor; D010651:Phenylalanine Hydroxylase