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AKT3 rSNPs, Transcriptional Factor Binding Sites and Human Disease

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DOI: 10.4236/ojbd.2013.34023    3,385 Downloads   6,571 Views   Citations


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.

Conflicts of Interest

The authors declare no conflicts of interest.

Cite this paper

N. E. Buroker, "AKT3 rSNPs, Transcriptional Factor Binding Sites and Human Disease," Open Journal of Blood Diseases, Vol. 3 No. 4, 2013, pp. 116-129. doi: 10.4236/ojbd.2013.34023.


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