SLA-1 Genetic Diversity in Pigs: Extensive Analysis of Copy Number Variation, Heterozygosity, Expression, and Breed Specificity
SLA-1 Genetic Diversity in Pigs: Extensive Analysis of Copy Number Variation, Heterozygosity, Expression, and Breed Specificity
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DOI：
10.1038/s41598-020-57712-5
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发表时间：
2020-01-20
影响因子：
4.6
通讯作者：
Park, Chankyu
中科院分区：
文献类型：
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作者：
Minh Thong Le;Choi, Hojun;Park, Chankyu
猪白细胞抗原通过识别大量的外源抗原在免疫应答中起着不可或缺的作用，因此，其遗传多样性对其功能起着至关重要的作用。在本研究中，我们开发了一种新的高分辨率的猪SLA-1基因分型方法，并成功地分型307个不同遗传背景的个体，包括11个纯种，1个杂交种，和12个细胞系。共鉴定出52个等位基因，其中18个为新等位基因，9个为SLA-1重复单倍型，其中4个为新单倍型。我们观察到SLA-1等位基因在不同猪种之间的分布存在显著差异，包括品种特异性等位基因。SLA-1重复在33%的染色体中观察到，并且在生物医学模型品种如SNU（100%）和NIH（76%）小型猪中特别高。我们的分析表明，SLA-1重复与SLA-1 mRNA在猪细胞中的表达水平的增加相比，单拷贝单倍型。因此，我们在此提供了对猪SLA-1最广泛的遗传分析结果。
Swine leukocyte antigens play indispensable roles in immune responses by recognizing a large number of foreign antigens and thus, their genetic diversity plays a critical role in their functions. In this study, we developed a new high-resolution typing method for pig SLA-1 and successfully typed 307 individuals from diverse genetic backgrounds including 11 pure breeds, 1 cross bred, and 12 cell lines. We identified a total of 52 alleles including 18 novel alleles and 9 SLA-1 duplication haplotypes, including 4 new haplotypes. We observed significant differences in the distribution of SLA-1 alleles among the different pig breeds, including the breed specific alleles. SLA-1 duplication was observed in 33% of the chromosomes and was especially high in the biomedical model breeds such as SNU (100%) and NIH (76%) miniature pigs. Our analysis showed that SLA-1 duplication is associated with the increased level of SLA-1 mRNA expression in porcine cells compared to that of the single copy haplotype. Therefore, we provide here the results of the most extensive genetic analysis on pig SLA-1.