TITLE:
ATF3 rSNPs, transcriptional factor binding sites and human etiology
AUTHORS:
Norman E. Buroker
KEYWORDS:
ATF3; rSNPs; TFBS; Human Etiology
JOURNAL NAME:
Open Journal of Genetics,
Vol.3 No.4,
December
12,
2013
ABSTRACT:
Three rSNPs (rs3125289, rs1877474 and rs11119982) in
one intron of the activating transcription factor 3 (ATF3) gene have been significantly associated with the human etiology
of hypospadias and may be associated with human disease. These rSNP alleles
alter the DNA landscape for potential transcriptional factors (TFs) to attach
resulting in changes in transcriptional factor binding sites (TFBS). These TFBS
changes are examined with respect to the human etiology of hypospadias which
has been found to be significantly associated with the rSNPs.