Bolner Matteo, Bertolini Francesca, Bovo Samuele, Schiavo Giuseppina, Fontanesi Luca
Department of Agricultural and Food Sciences, Division of Animal Sciences, University of Bologna, Viale Giuseppe Fanin 46, 40127 Bologna, Italy.
Animals (Basel). 2023 Dec 19;14(1):5. doi: 10.3390/ani14010005.
Polymorphisms in the human gene determine the major blood classification system based on the three well-known forms: ; ; and . In pigs that carry only two main alleles in this gene ( and ), 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 gene in different species, pig breeds, and populations and provide (i) a comprehensive distribution of the and alleles, (ii) evolutionary relationships of gene sequences across species, and (iii) an exploratory evaluation of the effect of the different gene variants on production traits and blood-related parameters in Italian Large White pigs. We confirmed that allele is likely under balancing selection, present in all species investigated, without being fixed in any of them. We reported a novel structural variant in perfect linkage disequilibrium with allele 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.
A；B；以及O。在该基因中仅携带两个主要等位基因（A和B）的猪中，我们仍需要获得更全面的变体分布，这也可能影响其功能。在本研究中，我们挖掘了500多个全基因组测序数据集，以获取不同物种、猪品种和群体中该基因的信息，并提供（i）A和B等位基因的全面分布，（ii）跨物种的该基因序列的进化关系，以及（iii）对意大利大白猪中不同该基因变体对生产性状和血液相关参数影响的探索性评估。我们证实，等位基因A可能处于平衡选择之下，存在于所有调查的物种中，但在任何一个物种中都未固定。我们报告了一个与等位基因A处于完全连锁不平衡的新型结构变体，这使得估计该功能等位基因出现的进化时间窗口成为可能。我们还鉴定出两个与猪血浆镁水平有暗示性关联的单核苷酸多态性。其他研究也可以基于我们的结果构建，以进一步评估该基因对经济相关性状和基本生物学功能的影响。
