摘要
体细胞数性状是奶牛生产及育种中的重要经济性状之一,筛选该性状相关的重要功能基因、挖掘关键分子标记,对奶牛体细胞数性状的遗传改良具有重要意义。本研究通过全基因组关联分析(GWAS)和代谢组学联合分析筛选影响体细胞数性状的重要基因及关键代谢物。首先,使用Illumina Bovine 50K SNP芯片鉴定2709头荷斯坦奶牛的基因型,利用奶牛体细胞数性状的基因组估计育种值(genomic estimated breeding value,GEBV)进行GWAS,筛选到NPFFR2、ZNF831、SLC4A4、SLMO2、SKAP1和CBX1六个候选基因;KEGG通路分析发现,候选基因主要富集在神经活性配体与受体的相互作用、胰腺分泌、胆汁分泌、近端小管碳酸氢盐再生和Rap1信号通路等生物过程。其次,选择高体细胞数(Hscc)和低体细胞数(Lscc)两种极端表型的奶牛,基于液相色谱串联质谱(LC-MS/MS)进行血浆代谢组学分析,筛选出71种血浆显著差异代谢物;相较于Hscc组,Lscc组有皮质醇、醛固酮和桂皮酸乙酯等57种差异代谢物表达量上调,牛磺脱氧胆酸、相酸等14种差异代谢物表达量下调;KEGG富集分析发现显著差异代谢物主要在醛固酮调节的钠重吸收、胆汁分泌、乙醛酸盐和二羧酸盐代谢、酮体的合成与降解等通路显著富集。GWAS与代谢组学联合分析表明,胆汁分泌是调控体细胞数性状的重要通路,影响胆汁分泌过程的SLC4A4基因与胆汁分泌代谢物皮质醇可作为影响奶牛体细胞数性状的关键基因和代谢物。本研究结果可为奶牛体细胞数性状的遗传改良提供重要候选基因和分子标记。
Somatic cell count trait is one of the important economical traits in dairy cow production and breeding.Screening important functional genes related to this trait and mining key molecular markers are of great significance to genetic improvement of the somatic cell count trait in dairy cow.In this study,the important genes and key metabolites affecting somatic cell count trait were screened by genome-wide association study(GWAS)combined with metabolomics analysis.Firstly,2709 Holstein cows were genotyped using Illumina Bovine 50K SNP microarrays,and GWAS was performed using the genomic estimated breeding value(GEBV)for somatic cell count trait in dairy cow,and then six candidate genes including NPFFR2,ZNF831,SLC4A4,SLMO2,SKAP1 and CBX1 were screened out.KEGG pathway analysis revealed that the candidate genes were mainly enriched in the biological processes such as neuroactive ligand-receptor interactions,pancreatic secretion,bile secretion,proximal tubule bicarbonate regeneration and Rap1 signaling pathway.Secondly,the cows with extreme phenotype of high somatic cell count(Hscc)or low somatic cell count(Lscc)were selected for plasma metabolomics analysis based on liquid chromatography tandem mass spectrometry(LC-MS/MS),and 71 plasma significantly differential metabolites were screened out.Compared to the Hscc group,57 differentially expressed metabolites such as cortisol,aldosterone and cinnamic acid ethyl ester were up-regulated in the Lscc group,while 14 differentially expressed metabolites such as taurodeoxycholic acid and phasic acid were down-regulated.KEGG enrichment analysis revealed that the significantly differential metabolites were mainly enriched in the pathways of aldosterone-regulated sodium reabsorption,bile secretion,glyoxylate and dicarboxylate metabolisms,and ketone body synthesis and degradation.The joint analysis of GWAS and metabolomics indicated that bile secretion was an important pathway in the regulation of somatic cell count trait,and the SLC4A4 gene affecting bile secretion process and bile secretion metabolite cortisol was the key gene and metabolite affecting the somatic cell count trait in dairy cows.The results of this study might provide important candidate genes and molecular markers for the genetic improvement of the somatic cell count trait in dairy cow.
作者
罗忠泽
张宁玥
李瑞瑞
马云
李新海
Luo Zhongze;Zhang Ningyue;Li Ruirui;Ma Yun;Li Xinhai(College of Animal Science and Technology,Ningxia University,Yinchuan 750021,China)
出处
《山东农业科学》
2025年第3期158-165,共8页
Shandong Agricultural Sciences
基金
中央引导地方科技发展专项(YDZX2022153)
现代农业(奶牛)产业技术体系建设项目(CARS-36)
宁夏回族自治区重点研发计划项目(2021BEF01001,2022BBF02017)。
