Department of Animal Genetics, Breeding and Reproduction, 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, Beijing 100193, China.
Beijing Dairy Cattle Center, Qinghe'nanzhen Deshengmenwai Street, Chaoyang District, Beijing 100192, China.
Genes (Basel). 2019 Apr 2;10(4):265. doi: 10.3390/genes10040265.
Our initial RNA sequencing work identified that lipin 1 () was differentially expressed during dry period, early lactation, and peak of lactation in dairy cows, and it was enriched into the fat metabolic Gene Ontology (GO) terms and pathways, thus we considered as the candidate gene for milk production traits. In this study, we detected the polymorphisms of and verified their genetic effects on milk yield and composition in a Chinese Holstein cow population. We found seven SNPs by re-sequencing the entire coding region and partial flanking region of , including one in 5' flanking region, four in exons, and two in 3' flanking region. Of these, four SNPs, c.637T > C, c.708A > G, c.1521C > T, and c.1555A > C, in the exons were predicted to result in the amino acid replacements. With the Haploview 4.2, we found that seven SNPs in formed two haplotype blocks (D' = 0.98-1.00). Single-SNP association analyses showed that SNPs were significantly associated with milk yield, fat yield, fat percentage, or protein yield in the first or second lactation ( = < 0.0001-0.0457), and only g.86049389C > T was strongly associated with protein percentage in both lactations ( = 0.0144 and 0.0237). The haplotype-based association analyses showed that the two haplotype blocks were significantly associated with milk yield, fat yield, protein yield, or protein percentage ( = < 0.0001-0.0383). By quantitative real-time PCR (qRT-PCR), we found that had relatively high expression in mammary gland and liver tissues. Furthermore, we predicted three SNPs, c.637T > C, c.708A > G, and c.1521C > T, using SOPMA software, changing the LPIN1 protein structure that might be potential functional mutations. In summary, we demonstrated the significant genetic effects of on milk production traits, and the identified SNPs could serve as genetic markers for dairy breeding.
我们最初的 RNA 测序工作表明，脂肪酶 1()在奶牛干奶期、泌乳早期和泌乳高峰期的表达存在差异，并且它富集到脂肪代谢基因本体论 (GO)术语和途径中，因此我们认为是产奶性状的候选基因。在这项研究中，我们检测了的多态性，并验证了它们在中国荷斯坦奶牛群体中对产奶量和组成的遗传效应。我们通过重新测序整个编码区和部分侧翼区发现了七个 SNPs，包括 5'侧翼区的一个，外显子中的四个，和 3'侧翼区的两个。其中，外显子中的四个 SNP，c.637T > C、c.708A > G、c.1521C > T 和 c.1555A > C，预测会导致氨基酸替换。利用 Haploview 4.2，我们发现 中的七个 SNP 形成了两个单倍型块(D'=0.98-1.00)。单 SNP 关联分析表明，这些 SNP 与第一或第二泌乳期的产奶量、乳脂产量、乳脂率或乳蛋白产量显著相关（= < 0.0001-0.0457），只有 g.86049389C > T 与两个泌乳期的乳蛋白率显著相关（= 0.0144 和 0.0237）。基于单倍型的关联分析表明，这两个单倍型块与产奶量、乳脂产量、乳蛋白产量或乳蛋白率显著相关（= < 0.0001-0.0383）。通过实时定量 PCR(qRT-PCR)，我们发现在乳腺和肝脏组织中表达较高。此外，我们使用 SOPMA 软件预测了三个 SNP，c.637T > C、c.708A > G 和 c.1521C > T，这些 SNP 改变了 LPIN1 蛋白结构，可能是潜在的功能突变。综上所述，我们证明了对产奶性状的显著遗传效应，鉴定出的 SNP 可以作为奶牛育种的遗传标记。
