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Novel transcriptional regulatory element in the phenylalanine hydroxylase gene intron 8

Authors
Journal
Molecular Genetics and Metabolism
1096-7192
Publisher
Elsevier
Publication Date
Volume
101
Issue
1
Identifiers
DOI: 10.1016/j.ymgme.2010.05.014
Keywords
  • Gata-1
  • Enhancer
  • Intron
  • Phenylalanine Hydroxylase Gene
  • Phenylketonuria
  • Transcription
Disciplines
  • Biology

Abstract

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.

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