Identification of single nucleotide polymorphisms of PIK3R1 and DUSP1 genes and their genetic associations with milk production traits in dairy cows

作     者：Bo Han Yuwei Yuan Lijun Shi Yanhua Li Lin Liu Dongxiao Sun Bo Han;Yuwei Yuan;Lijun Shi;Yanhua Li;Lin Liu;Dongxiao Sun

作者机构：Department of Animal GeneticsBreeding and ReproductionCollege of Animal Science and TechnologyKey Laboratory of Animal GeneticsBreeding and Reproduction of Ministry of Agriculture and Rural AffairsNational Engineering Laboratory for Animal BreedingChina Agricultural UniversityNo.2 Yuanmingyuan West RoadHaidian DistrictBeijing 100193China Beijing Dairy Cattle CenterBeijing 100192China. 

出 版 物：《Journal of Animal Science and Biotechnology》 (畜牧与生物技术杂志（英文版）)

年 卷 期：2020年第11卷第1期

页      面：9-19页

核心收录：

学科分类：0905[农学-畜牧学] 09[农学] 090501[农学-动物遗传育种与繁殖] 

基　　金：financially supported by the National Natural Science Foundation of China(31872330,31802041) Beijing Dairy Industry Innovation Team(BAIC06–2018/2019) Beijing Science and Technology Program(D171100002417001) National Science and Technology Programs of China(2013AA102504) earmarked fund for Modern Agro-industry Technology Research System(CARS-36) the Program for Changjiang Scholar and Innovation Research Team in University(IRT_15R62) 

主　　题：Chinese Holstein DUSP1 Genetic association Milk production PIK3R1 SNP 

摘      要：Background:Previously,phosphoinositide-3-kinase regulatory subunit 1(PIK3R1)and dual specificity phosphatase 1(DUSP1)were identified as promising candidate genes for milk production traits due to their being differentially expressed between the dry period and the peak of lactation in livers of dairy ***,in this study,the single nucleotide polymorphisms(SNPs)of PIK3R1 and DUSP1 genes were identified and their genetic associations with milk yield,fat yield,fat percentage,protein yield,and protein percentage,were investigated using 1067 Chinese Holstein cows from 40 sire ***:By re-sequencing the entire coding region and 2000 bp of the 5′and 3′flanking regions of the two genes,one SNP in the 5′untranslated region(UTR),three in the 3′UTR,and two in the 3′flanking region of PIK3R1 were identified,and one in the 5′flanking region,one in the 3′UTR,and two in the 3′flanking region of DUSP1 were *** single-locus association analyses showed that five SNPs in PIK3 R1,rs42590258,rs210389799,rs208819656,rs41255622,rs133655926,and rs211408208,and four SNPs in DUSP1,rs207593520,rs208460068,rs209154772,and rs210000760,were significantly associated with milk,fat and protein yields in the first or second lactation(P values≤0.0001 and 0.0461).In addition,by the Haploview 4.2 software,the six and four SNPs in PIK3R1 and DUSP1 respectively formed one haplotype block,and the haplotype-based association analyses showed significant associations between their haplotype combinations and the milk traits in both two lactations(P values≤0.0001 and 0.0364).One SNP,rs207593520(T/G),was predicted to alter the transcription factor binding sites(TFBSs)in the 5′flanking region of ***,the dual-luciferase assay showed that the transcription activity of allele T in rs207593520 was significantly higher than that of allele G,suggesting the activation of transcriptional activity of DUSP1 gene by allele T of ***,the rs207593520 SNP was highlighted as a