33 Young Scholar Presentation: Expression quantitative trait loci and allele-specific expression exhibiting joint association with polygenic trait phenotypes in pigs

Abstract Advancements in sequencing technology, improvements in genome annotation, and development of quantitative genetic models have been instrumental to the significant genetic gains achieved in pork production. Several quantitative trait loci (QTL) have been identified for growth, meat quality and carcass composition (GMC) phenotypes, however, the biological mechanisms underlying most QTL remain unknown. Functional genomic analysis can reveal insights on the genetic architecture of complex traits, and transcriptomic profiling of skeletal muscle during the conversion of muscle to meat can identify critical regulators of GMC phenotypes. Gene transcripts obtained with RNA-seq of longissimus muscle from 168 pigs were used to estimate gene expression variation subject to genetic control by mapping expression QTL (eQTL) and allele-specific expression (ASE). A total of 334 eQTL were mapped (FDR≤0.01) and joint association of eQTL with phenotypic QTL (pQTL) segregating in our population revealed 16 genes significantly associated with 21 pQTL for GMC phenotypes. ASE analysis facilitates the identification of cis-acting regulation of transcript abundance. We tested for ASE in 69,502 coding SNP (cSNP) and a total of 18,234 cSNP with significant ASE were identified (FDR≤0.01). A gene-wise conditional analysis fitting all ASE cSNP per gene for each phenotype identified 60 genes associated with GMC phenotypes. A comparison of eQTL with ASE cSNP showed an overlap of 136 genes. Pearson correlations of peak eQTL SNP with ASE cSNP was significant for 51% of these genes. The ASE analysis showed more precision in the identification of cis-acting effects than the genome-wide eQTL analysis; however, both approaches provide valuable information on the regulation of transcript abundance. For instance, we observed 24 genes associated with distant eQTL (trans effects) and exhibiting ASE. This study provides new information on the complex regulation of the pig longissimus muscle transcriptome and associations with measurable differences in economically important phenotypic traits.