TITLE:
AKT3 rSNPs, Transcriptional Factor Binding Sites and Human Disease
AUTHORS:
Norman E. Buroker
KEYWORDS:
AKT3; rSNPs; TFBS; Human Disease
JOURNAL NAME:
Open Journal of Blood Diseases,
Vol.3 No.4,
December
13,
2013
ABSTRACT: Seven rSNPs (rs10157763, rs10927067, rs12031994, rs2125230,
rs2345994, rs4132509 and rs4590646) in intron one of thev-akt murine thymoma
viral oncogene homolog 3 (AKT3) gene have been significantly associated with either
Chronic Mountain Sickness, Renal Cell Carcinoma risk or Aggressive Prostate
Cancer. These rSNP alleles alter the DNA landscape for potential
transcriptional factors (TFs)to attach, resulting in changes in transcriptional factor binding
sites (TFBS). The alleles of each rSNP were found to produce unique TFBS resulting in
potential changes in TF AKT3
regulation. These regulatory changes are discussed with respect to the three
diseases.