Department of Animal Genetics and Breeding, College of Animal Science and Technology, Key Laboratory of Animal Genetics, Breeding and Reproduction of Ministry of Agriculture and Rural Affairs, National Engineering Laboratory for Animal Breeding, China Agricultural University, No. 2 Yuanmingyuan West Road, Haidian District, Beijing, 100193, China.
Beijing Dairy Cattle Center, Beijing, 100192, China.
BMC Genom Data. 2021 Nov 3;22(1):47. doi: 10.1186/s12863-021-01002-0.
Our preliminary work confirmed that, SLC22A7 (solute carrier family 22 member 7), NGFR (nerve growth factor receptor), ARNTL (aryl hydrocarbon receptor nuclear translocator like) and PPP2R2B (protein phosphatase 2 regulatory subunit Bβ) genes were differentially expressed in dairy cows during different stages of lactation, and involved in the lipid metabolism through insulin, PI3K-Akt, MAPK, AMPK, mTOR, and PPAR signaling pathways, so we considered these four genes as the candidates affecting milk production traits. In this study, we detected polymorphisms of the four genes and verified their genetic effects on milk yield and composition traits in a Chinese Holstein cow population.
By resequencing the whole coding region and part of the flanking region of SLC22A7, NGFR, ARNTL and PPP2R2B, we totally found 20 SNPs, of which five were located in SLC22A7, eight in NGFR, three in ARNTL, and four in PPP2R2B. Using Haploview4.2, we found three haplotype blocks including five SNPs in SLC22A7, eight in NGFR and three in ARNTL. Single-SNP association analysis showed that 19 out of 20 SNPs were significantly associated with at least one of milk yield, fat yield, fat percentage, protein yield or protein percentage in the first and second lactations (P < 0.05). Haplotype-based association analysis showed that the three haplotypes were significantly associated with at least one of milk yield, fat yield, fat percentage, protein yield or protein percentage (P < 0.05). Further, we used SOPMA software to predict a SNP, 19:g.37095131C > T in NGFR, changed the structure of NGFR protein. In addition, we used Jaspar software to found that four SNPs, 19:g.37113872C > G,19:g.37113157C > T, and 19:g.37112276C > T in NGFR and 15:g.39320936A > G in ARNTL, could change the transcription factor binding sites and might affect the expression of the corresponding genes. These five SNPs might be the potential functional mutations for milk production traits in dairy cattle.
In summary, we proved that SLC22A7, NGFR, ARNTL and PPP2R2B have significant genetic effects on milk production traits. The valuable SNPs can be used as candidate genetic markers for genomic selection of dairy cattle, and the effects of these SNPs on other traits need to be further verified.
我们的初步工作证实,SLC22A7(溶质载体家族 22 成员 7)、NGFR(神经生长因子受体)、ARNTL(芳烃受体核转位蛋白样)和 PPP2R2B(蛋白磷酸酶 2 调节亚基 Bβ)基因在奶牛泌乳的不同阶段表达差异,并通过胰岛素、PI3K-Akt、MAPK、AMPK、mTOR 和 PPAR 信号通路参与脂质代谢,因此我们认为这四个基因是影响产奶量性状的候选基因。在本研究中,我们检测了这四个基因的多态性,并验证了它们在中国荷斯坦奶牛群体中产奶量和组成性状的遗传效应。
通过对 SLC22A7、NGFR、ARNTL 和 PPP2R2B 的全编码区和部分侧翼区进行重测序,我们总共发现了 20 个 SNP,其中 5 个位于 SLC22A7 中,8 个位于 NGFR 中,3 个位于 ARNTL 中,4 个位于 PPP2R2B 中。使用 Haploview4.2,我们在 SLC22A7 中发现了三个包含 5 个 SNP 的单倍型块,在 NGFR 中发现了 8 个,在 ARNTL 中发现了 3 个。单 SNP 关联分析显示,20 个 SNP 中有 19 个与一、二胎产奶量、乳脂产量、乳脂率、乳蛋白产量或乳蛋白率至少有一个显著相关(P < 0.05)。基于单倍型的关联分析显示,三个单倍型与一、二胎产奶量、乳脂产量、乳脂率、乳蛋白产量或乳蛋白率至少有一个显著相关(P < 0.05)。此外,我们使用 SOPMA 软件预测了 NGFR 中的一个 SNP,19:g.37095131C > T,该 SNP 改变了 NGFR 蛋白的结构。另外,我们使用 Jaspar 软件发现,NGFR 中的四个 SNP,19:g.37113872C > G、19:g.37113157C > T 和 19:g.37112276C > T 以及 ARNTL 中的 15:g.39320936A > G,可能改变了转录因子结合位点,并可能影响相应基因的表达。这五个 SNP 可能是奶牛产奶量性状的潜在功能突变。
综上所述,我们证明了 SLC22A7、NGFR、ARNTL 和 PPP2R2B 对产奶量性状有显著的遗传效应。有价值的 SNP 可作为奶牛基因组选择的候选遗传标记,这些 SNP 对其他性状的影响需要进一步验证。