Human tyrosine hydroxylase natural genetic variation: delineation of functional transcriptional control motifs disrupted in the proximal promoter.

Circulation. Cardiovascular Genetics
Kuixing ZhangDaniel T O'Connor

Abstract

Tyrosine hydroxylase (TH) is the rate-limiting enzyme in catecholamine biosynthesis. Common genetic variation at the human TH promoter predicts alterations in autonomic activity and blood pressure, but how such variation influences human traits and, specifically, whether such variation affects transcription are not yet known. Pairwise linkage disequilibrium across the TH locus indicated that common promoter variants (C-824T, G-801C, A-581G, and G-494A) were located in a single 5' linkage disequilibrium block in white, black, Hispanic, and Asian populations. Polymorphisms C-824T and A-581G were located in highly conserved regions and were predicted to disrupt known transcriptional control motifs myocyte enhancer factor-2 (MEF2), sex-determining region Y (SRY), and forkhead box D1 (FOXD1) at C-824T and G/C-rich binding factors specificity protein 1 (SP1), activating enhancer-binding protein 2 (AP2)], early growth response protein 1 (EGR1) at A-581G. At C-824T and A-581G, promoter and luciferase reporter plasmids indicated differential allele strength (T>C at C-824T; G>A at A-581G) under both basal circumstances and secretory stimulation. C-824T and A-581G displayed the most pronounced effects on both transcription in cella and ca...Continue Reading

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Citations

Jun 24, 2010·Cellular and Molecular Neurobiology·Fangwen RaoDaniel T O'Connor
Nov 10, 2011·Current Hypertension Reports·Gemma CurrieAnna F Dominiczak
May 10, 2011·Circulation. Cardiovascular Genetics·Stéphane ChironDaniel T O'Connor
Mar 13, 2012·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·Joohyung Lee, Vincent R Harley
Jan 15, 2014·Psychiatry and Clinical Neurosciences·Mieko HoriguchiHiroshi Ichinose
Aug 14, 2010·American Journal of Hypertension·Søren J NielsenMogens Fenger
Mar 10, 2017·Electrolyte & Blood Pressure : E & BP·Yu Ho LeeSang Ho Lee
Jan 8, 2014·Circulation. Cardiovascular Genetics·Carlos Silvestre-RoigVicente Andrés
Nov 4, 2010·Current Opinion in Nephrology and Hypertension·Maple M FungDaniel T O'Connor
Jan 11, 2012·Molecular Biology Reports·Sue Rutherford SiegelLyn Griffiths
Jul 4, 2019·Social Cognitive and Affective Neuroscience·Caroline SchlüterErhan Genc
Jun 17, 2011·American Journal of Physiology. Regulatory, Integrative and Comparative Physiology·Monte E TurnerAmy Milsted

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