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.
Highlights
The activating transcription factor 3 (ATF3) gene is a member of the activating transcription factor/cAMP responsive element binding (CREB) protein family of transcription factors, which share the basic region-leucine zipper DNA binding motif (TGACGTCA)
Three regulatory SNPs (rSNPs) 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
Summary
The activating transcription factor 3 (ATF3) gene is a member of the activating transcription factor/cAMP responsive element binding (CREB) protein family of transcription factors, which share the basic region-leucine zipper (bZip) DNA binding motif (TGACGTCA). A rSNPs within a transcriptional factor binding site (TFBS) can change a transcriptional factor’s (TF) ability to bind its TFBS [11,12,13,14], in which case the TF would be unable to effectively regulate its target gene [15,16,17,18,19]. This concept is examined for the above ATF3 SNPs of intron one and their allelic association with TFBS. I discuss these SNP associations with changes in potential TFBS and their possible relationship to human etiology
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