{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Sung MK"],"funding":["KAIST Institute","KAIST","The Ministry of Science, ICT and Future Planning","Ulsan National Institute of Science and Technology"],"pagination":["164"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4964047"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["17(1)"],"pubmed_abstract":["<h4>Background</h4>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.<h4>Results</h4>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 "],"journal":["Genome biology"],"pubmed_title":["Selected heterozygosity at cis-regulatory sequences increases the expression homogeneity of a cell population in humans."],"pmcid":["PMC4964047"],"funding_grant_id":["N11160069","1.150087","2013M3A9C4078139","Future Systems Healthcare Project"],"pubmed_authors":["Lee KS","Choi JK","Ghim CM","Sung MK","Jang J"],"additional_accession":[]},"is_claimable":false,"name":"Selected heterozygosity at cis-regulatory sequences increases the expression homogeneity of a cell population in humans.","description":"<h4>Background</h4>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.<h4>Results</h4>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 ","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016 Jul","modification":"2026-06-17T06:02:59.879Z","creation":"2026-06-17T03:07:52.773Z"},"accession":"S-EPMC4964047","cross_references":{"pubmed":["27468897"],"doi":["10.1186/s13059-016-1027-8"]}}