Identification of putative transciption regulating elements within human intron 1

<p><b>Copyright information:</b></p><p>Taken from "Resequencing in European hypertensive and normotensive individuals: no common susceptibilily variants for hypertension and purifying selection on intron 1"</p><p>http://www.biomedcentral.com/1471-2350/8/47</p><p>BMC Medical Genetics 2007;8():47-47.</p><p>Published online 23 Jul 2007</p><p>PMCID:PMC1947951.</p><p></p> Putative transcription factors binding sites (TFBS) predicted by MatInspector 2.2 software and regulatory elements identified by manual inspection are depicted upon the sequence of intron 1 (951 bp). The Glucocorticoid Responsive Element (GRE; consensus GGTACAnnnTGTTCT), a core for a potential Glucocorticoid Responsive Unit (GRU), is given in bold. The human-specific element is underlined. The two-directional arrows indicate the predicted binding sites for regulatory factors: IRE – Insulin Responsive Element (consensus T(G/A)TTT(T/G)(G/T)); ERE – Estrogen Responsive Element (consensus GGTCAnnnTGACC); NFκB – Nuclear Factor kappa B; Sp1/2 – Specificity protein 1/2; Egr1 – Early Growth Response 1; MAZ – Myc-Associated Zinc finger protein; ZBP-89 – Zinc finger Binding Protein 148, ZNF148; HMGI/Y – High Mobility Group protein isoform I and Y, HMGA1; RORA (RORα) – Retinoic acid receptor-related Orphan Receptor α; E4BP4 – mammalian transcription factor E4 Binding Protein 4

Upper white bar depicts the positions of identified SNPs (Table 2) relative to the location of gene ATG (A denoted as 1)

Singleton polymorphisms were excluded from calculations.<p><b>Copyright information:</b></p><p>Taken from ", a positional candidate for blood pressure and renal regulation: resequencing, association and study"</p><p>http://www.biomedcentral.com/1471-2350/9/25</p><p>BMC Medical Genetics 2008;9():25-25.</p><p>Published online 10 Apr 2008</p><p>PMCID:PMC2330028.</p><p></p

Arrows pointing at polymorphic amino acid positions (14 Arg-His, 73 Ala-Val, 121 Met-Thr, 130 Pro-Pro, 143 Phe-Ser)

<p><b>Copyright information:</b></p><p>Taken from ", a positional candidate for blood pressure and renal regulation: resequencing, association and study"</p><p>http://www.biomedcentral.com/1471-2350/9/25</p><p>BMC Medical Genetics 2008;9():25-25.</p><p>Published online 10 Apr 2008</p><p>PMCID:PMC2330028.</p><p></p