Selected heterozygosity at cis-regulatory sequences increases the expression homogeneity of a cell population in humans.

ABSTRACT:

Background

Examples of heterozygote advantage in humans are scarce and limited to protein-coding sequences. Here, we attempt a genome-wide functional inference of advantageous heterozygosity at cis-regulatory regions.

Results

The single-nucleotide polymorphisms bearing the signatures of balancing selection are enriched in active cis-regulatory regions of immune cells and epithelial cells, the latter of which provide barrier function and innate immunity. Examples associated with ancient trans-specific balancing selection are also discovered. Allelic imbalance in chromatin accessibility and divergence in transcription factor motif sequences indicate that these balanced polymorphisms cause distinct regulatory variation. However, a majority of these variants show no association

SUBMITTER: Sung MK 

PROVIDER: S-EPMC4964047 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature