Department of Veterinary and Animal Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Frederiksberg, Denmark.
Department of Applied Mathematics and Computer Science, Technical University of Denmark, Kgs. Lyngby, Denmark.
Physiol Genomics. 2019 Oct 1;51(10):488-499. doi: 10.1152/physiolgenomics.00125.2018. Epub 2019 Aug 2.
Characterization of genetic variants affecting genome-wide gene expression levels (expression quantitative trait loci or eQTLs) in pig testes may improve our understanding of genetic architecture of boar taint (an animal welfare trait) and helps in genome-assisted or genomic selection programs. The aims of this study were to identify eQTLs associated with androstenone, to find candidate eQTLs for low androstenone, and to validate the top eQTL by reverse transcriptase quantitative PCR (RT-qPCR). Gene expression profiles were obtained by RNA sequencing in testis from Danish cross-bred pigs and genotype data by 80K single nucleotide polymorphism panel. A total of 262 eQTLs [false discovery rate (FDR) < 0.05] were identified by using two software packages: Matrix eQTL and Krux eQTL. Of these, 149 -acting eQTLs were significantly associated with androstenone concentrations and gene expression (FDR < 0.05). The eQTLs were associated with several genes of boar taint relevance including and . One eQTL gene, , was differentially expressed (FDR < 0.05) and affected by chicory. Five candidate eQTLs associated with low androstenone concentrations were discovered, including the top eQTL associated with . RT-qPCR confirmed target gene expression to be significantly ( < 0.05) different based on eQTL genotypes. Furthermore, eQTLs were enriched as QTLs for 15 boar taint related traits from the PigQTLdb. This is the first study to report eQTLs in testes of commercial crossbred pigs used in pork production and to reveal genetic architecture of boar taint. Potential applications include development of a DNA test and in advanced genomic selection models for boar taint.
鉴定影响猪睾丸全基因组基因表达水平(表达数量性状基因座或 eQTL)的遗传变异,可提高我们对猪腥味(一种动物福利性状)遗传结构的理解,并有助于基因组辅助或基因组选择计划。本研究的目的是鉴定与雄烯酮相关的 eQTL,寻找低雄烯酮的候选 eQTL,并通过逆转录定量 PCR(RT-qPCR)验证顶级 eQTL。睾丸基因表达谱通过丹麦杂交猪的 RNA 测序获得,基因型数据通过 80K 单核苷酸多态性面板获得。使用 Matrix eQTL 和 Krux eQTL 两个软件包共鉴定了 262 个 eQTL[错误发现率(FDR)<0.05]。其中,149 个为主动作用 eQTL,与雄烯酮浓度和基因表达显著相关(FDR<0.05)。这些 eQTL 与几个与猪腥味相关的基因相关,包括 和 。一个 eQTL 基因 ,差异表达(FDR<0.05)并受菊苣影响。发现了 5 个与低雄烯酮浓度相关的候选 eQTL,包括与 相关的顶级 eQTL。RT-qPCR 证实基于 eQTL 基因型,靶基因表达显著不同(<0.05)。此外,eQTL 作为 PigQTLdb 中 15 个猪腥味相关性状的 QTL 被富集。这是首次报道用于猪肉生产的商业杂交猪睾丸中的 eQTL,并揭示了猪腥味的遗传结构。潜在应用包括开发 DNA 测试和用于猪腥味的高级基因组选择模型。