Populational landscape of INDELs affecting transcription factor-binding sites in humans.

ABSTRACT:

Background

Differences in gene expression have a significant role in the diversity of phenotypes in humans. Here we integrated human public data from ENCODE, 1000 Genomes and Geuvadis to explore the populational landscape of INDELs affecting transcription factor-binding sites (TFBS). A significant fraction of TFBS close to the transcription start site of known genes is affected by INDELs with a consequent effect at the expression of the associated gene.

Results

Hundreds of TFBS-affecting INDELs (TFBS-ID) show a differential frequency between human populations, suggesting a role of natural selection in the spread of such variant INDELs. A comparison with a dataset of known human genomic regions under natural selection allowed us to identify several cases of TFBS-ID likely inv

SUBMITTER: Ribeiro-dos-Santos AM 

PROVIDER: S-EPMC4509691 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature