Investigation of ABO Gene Variants across More Than 60 Pig Breeds and Populations and Other Suidae Species Using Whole-Genome Sequencing Datasets.

Simple Summary: The ABO gene is the major blood classification system, which, in humans, is present in three main forms: A; B; and O. Under the umbrella of these main forms, other variants modulate the activity of the gene for functions that go beyond the determination of the blood type. However, in other animals, this gene is still poorly studied. The pig is a species of economic relevance, an animal model, and one of the most promising species for the development of xenotransplants. For all these reasons, it is important to investigate the ABO gene in pigs. In this study, we explored the main alleles present in different pig species (A and O) and other variants besides these two major forms to investigate the evolution of ABO and its possible association with several production and blood-related traits. We reported that the ABO gene has multiple variants that helped to define the evolution of the gene across the Suinae species. In an explorative analysis, we also reported that ABO gene polymorphisms were suggestively associated with the level of magnesium in plasma. Further studies are needed to dissect the effect of ABO gene polymorphisms in different pig breeds and populations. Polymorphisms in the human ABO gene determine the major blood classification system based on the three well-known forms: A; B; and O. In pigs that carry only two main alleles in this gene (A and O), we still need to obtain a more comprehensive distribution of variants, which could also impact its function. In this study, we mined more than 500 whole-genome sequencing datasets to obtain information on the ABO gene in different Suidae species, pig breeds, and populations and provide (i) a comprehensive distribution of the A and O alleles, (ii) evolutionary relationships of ABO gene sequences across Suidae species, and (iii) an exploratory evaluation of the effect of the different ABO gene variants on production traits and blood-related parameters in Italian Large White pigs. We confirmed that allele O is likely under balancing selection, present in all Sus species investigated, without being fixed in any of them. We reported a novel structural variant in perfect linkage disequilibrium with allele O that made it possible to estimate the evolutionary time window of occurrence of this functional allele. We also identified two single nucleotide polymorphisms that were suggestively associated with plasma magnesium levels in pigs. Other studies can also be constructed over our results to further evaluate the effect of this gene on economically relevant traits and basic biological functions. [ABSTRACT FROM AUTHOR]