Format

Send to

Choose Destination
Bioessays. 2014 Aug;36(8):798-806. doi: 10.1002/bies.201400036. Epub 2014 May 30.

Spurious transcription factor binding: non-functional or genetically redundant?

Author information

1
Babraham Institute, Cambridge, UK.

Abstract

Transcription factor binding sites (TFBSs) on the DNA are generally accepted as the key nodes of gene control. However, the multitudes of TFBSs identified in genome-wide studies, some of them seemingly unconstrained in evolution, have prompted the view that in many cases TF binding may serve no biological function. Yet, insights from transcriptional biochemistry, population genetics and functional genomics suggest that rather than segregating into 'functional' or 'non-functional', TFBS inputs to their target genes may be generally cumulative, with varying degrees of potency and redundancy. As TFBS redundancy can be diminished by mutations and environmental stress, some of the apparently 'spurious' sites may turn out to be important for maintaining adequate transcriptional regulation under these conditions. This has significant implications for interpreting the phenotypic effects of TFBS mutations, particularly in the context of genome-wide association studies for complex traits.

KEYWORDS:

functional genomics; genetic redundancy; regulatory variation; transcription factors; transcriptional regulation

PMID:
24888900
PMCID:
PMC4230394
DOI:
10.1002/bies.201400036
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Wiley Icon for PubMed Central
Loading ...
Support Center