Human tyrosine hydroxylase natural genetic variation: Delineation of functional transcriptional control motifs disrupted in the promoter proximal Academic Article uri icon


MeSH Major

  • Polymorphism, Single Nucleotide
  • Promoter Regions, Genetic
  • Tyrosine 3-Monooxygenase


  • We conclude that common genetic variants in the proximal TH promoter, especially at C-824T and A-581G, are functional in cella and alter transcription so as to explain promoter marker-on-trait associations in vivo. MEF2, FOXD1, and SRY contribute to functional differences in C-824T expression, whereas SP1, AP2, and EGR1 mediate those of A-581G. The SRY effect on TH transcription suggests a mechanism whereby male and female sex may differ in sympathetic activity and hence blood pressure. These results point to new strategies for diagnostic and therapeutic intervention into disorders of human autonomic function and their cardiovascular consequences.

publication date

  • April 2010



  • Academic Article



  • eng

PubMed Central ID

  • PMC3064953

Digital Object Identifier (DOI)

  • 10.1161/CIRCGENETICS.109.904813

PubMed ID

  • 20124442

Additional Document Info

start page

  • 187

end page

  • 98


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