Polymorphisms and genetic effects of PRLR, MOGAT1, MINPP1 and CHUK genes on milk fatty acid traits in Chinese Holstein
Polymorphisms and genetic effects of PRLR, MOGAT1, MINPP1 and CHUK genes on milk fatty acid traits in Chinese Holstein
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中国荷斯坦牛PRLR、MOGAT1、MINPP1和CHUK基因多态性及其对乳脂肪酸性状的遗传效应
DOI：
10.1186/s12863-019-0769-1
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发表时间：
2019-08-16
期刊：
影响因子：
2.9
通讯作者：
Han, Bo
中科院分区：
文献类型：
--
作者：
Shi, Lijun;Liu, Lin;Han, Bo
背景：我们的初步全基因组关联研究（GWAS）在中国荷斯坦人群中确定了20个有希望的乳脂肪酸（FA）性状候选基因，包括PRLR、MOGAT1、MINPP1和CHUK基因。在本研究中，我们研究了它们是否对中国荷斯坦奶牛的乳FA性状有显著的遗传效应。结果：我们对5′和3′侧翼区域的整个外显子和3000 bp进行了重新测序，鉴定出11个单核苷酸多态性（snp），其中PRLR 4个，MOGAT1 2个，MINPP1 2个，CHUK 3个。基于snp的关联分析表明，11个snp均与至少1个乳FA性状显著相关（P = 0.0456 ~ < 0.0001），且与C11:0、C13:0、C15:0和C16:0均无相关性（P < 0.05）。通过连锁不平衡（LD）分析，我们分别在PRLR、MOGAT1、MINPP1和CHUK中发现了2个、1个、1个和1个单倍型块，每个单倍型块与至少一个乳FA性状显著相关（P = 0.0456 ~ < 0.0001）。此外，PRLR中的G . 38949011g > A和G . 111599360a >g和G .111601747预测MOGAT1中的t>a会改变转录因子结合位点（TFBSs）。一个错义突变g.39115344G > A可能改变PRLR蛋白结构。CHUK的G . 20966385c > G改变了microrna的结合序列。因此，我们推断这5个snp是潜在的功能突变。结论：综上所述，我们首先检测了PRLR、MOGAT1、MINPP1和CHUK基因对牛奶FA性状的遗传影响，并研究了潜在的功能突变。这些数据为进一步研究这4个基因的功能验证奠定了基础。
Background:Our initial genome-wide association study (GWAS) identified 20 promising candidate genes for milk fatty acid (FA) traits in a Chinese Holstein population, including PRLR, MOGAT1, MINPP1 and CHUK genes. In this study, we performed whether they had significant genetic effects on milk FA traits in Chinese Holstein.Results:We re-sequenced the entire exons and 3000 bp of the 5' and 3' flanking regions, and identified 11 single nucleotide polymorphisms (SNPs), containing four in PRLR, two in MOGAT1, two in MINPP1, and three in CHUK. The SNP-based association analyses showed that all the 11 SNPs were significantly associated with at least one milk FA trait (P = 0.0456 ~ < 0.0001), and none of them had association with C11:0, C13:0, C15:0 and C16:0 (P > 0.05). By the linkage disequilibrium (LD) analyses, we found two, one, one, and one haplotype blocks in PRLR, MOGAT1, MINPP1, and CHUK, respectively, and each haplotype block was significantly associated with at least one milk FA trait (P = 0.0456 ~ < 0.0001). Further, g.38949011G > A in PRLR, and g.111599360A > G and g.111601747 T > A in MOGAT1 were predicted to alter the transcription factor binding sites (TFBSs). A missense mutation, g.39115344G > A, could change the PRLR protein structure. The g.20966385C > G of CHUK varied the binding sequences for microRNAs. Therefore, we deduced the five SNPs as the potential functional mutations.Conclusion:In summary, we first detected the genetic effects of PRLR, MOGAT1, MINPP1 and CHUK genes on milk FA traits, and researched the potential functional mutations. These data provided the basis for further investigation on function validation of the four genes in Chinese Holstein.