Construction of the porcine genome mobile element variations and investigation of its role in population diversity and gene expression

Abstract

Background Mobile element variants (MEVs) have a significant and complex impact on genomic diversity and phenotypic traits. However, the quantity, distribution, and relationship with gene expression and complex traits of MEVs in the pig genome remain poorly understood. Results We constructed the most comprehensive porcine MEV library based on high-depth whole genome sequencing (WGS) data from 747 pigs across 59 breeds worldwide. This database identified a total of 147,993 polymorphic MEVs, including 121,099 short interspersed nuclear elements (SINEs), 26,053 long interspersed nuclear elements (LINEs), 802 long terminal repeats (LTRs), and 39 other transposons, among which 54% are newly discovered. We found that MEVs are unevenly distributed across the genome and are strongly influenced by negative selection effects. Importantly, we identified 514, 530, and 584 candidate MEVs associated with population differentiation, domestication, and breed formation, respectively. For example, a significantly differentiated MEV is located in the ATRX intron between Asian and European pigs, whereas ATRX is also differentially expressed between Asian and European pigs in muscle tissue. In addition, we identified 4,169 expressed MEVs (eMEVs) significantly associated with gene expression and 6,914 splicing MEVs (sMEVs) associated with gene splicing based on RNA-seq data from 266 porcine liver tissues. These eMEVs and sMEVs explain 6.24% and 9.47%, respectively, of the observed cis-heritability and highlight the important role of MEVs in the regulation of gene expression. Finally, we provide a high-quality SNP–MEV reference haplotype panel to impute MEV genotypes from genome-wide SNPs. Notably, we identified a candidate MEV significantly associated with total teat number, demonstrating the functionality of this reference panel. Conclusions The present investigation demonstrated the importance of MEVs in pigs in terms of population diversity, gene expression and phenotypic traits, which may provide useful resources and theoretical support for pig genetics and breeding.