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Transcriptomic diversity across human populations reflects differential regulatory mechanisms. Allelic-imbalanced gene expression is a genetic regulatory mechanism that contributes to human phenotypic variation. To systematically investigate genome-wide allele-specific expression (ASE), we analyzed RNA-Seq data from European and African populations provided by the Geuvadis project. We identified 11 sites in 8 genes showing ASE in both Europeans and Africans, and 9 sites in 9 genes showing population-specific ASE, including both novel and known ASE signals. Notably, the top signal of differentiated ASE between inter-continental populations was observed in DNAJC15, of which the derived allele of rs12015, a single nucleotide polymorphism (SNP), showed significantly higher expression than did the ancestral allele specifically in European individuals. We identified a unique haplotype of DNAJC15, where a few SNPs highly differentiated between European and African populations were strongly linked to sites with high ASE. Among these, SNP rs17553284 affected the binding of several transcription factors as well as the genotype-dependent expression of DNAJC15. Therefore, we speculated that rs17553284 could be a regulatory causal variant that mediates the ASE of rs12015. We found several variations in ASE between intercontinental populations. The highly differentiated ASE genes identified here may implicate in the phenotypic variations among populations that are both evolutionarily and medically important.

Genome-wide comparison of allele-specific gene expression between African and European populations