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短讯:在蒙贝利亚尔牛的牛奶成分和干酪制作特性上候选因果变异的确认。

Short communication: Confirmation of candidate causative variants on milk composition and cheesemaking properties in Montbéliarde cows.

机构信息

GABI, INRA, AgroParisTech, Université Paris Saclay, F-78350 Jouy-en-Josas, France.

Conseil Elevage 25-90, F-25640 Roulans, France.

出版信息

J Dairy Sci. 2018 Nov;101(11):10076-10081. doi: 10.3168/jds.2018-14986. Epub 2018 Sep 13.

DOI:10.3168/jds.2018-14986
PMID:30219425
Abstract

In a previous study, we identified candidate causative variants located in 24 functional candidate genes for milk protein and fatty acid composition in Montbéliarde, Normande, and Holstein cows. We designed these variants on the custom part of the EuroG10K BeadChip (Illumina Inc., San Diego, CA), which is routinely used for genomic selection analyses in French dairy cattle. To validate the effects of these candidate variants on milk composition and to estimate their effects on cheesemaking properties, a genome-wide association study was performed on milk protein, fatty acid and mineral composition, as well as on 9 cheesemaking traits (3 laboratory cheese yields, 5 coagulation traits, and milk pH). All the traits were predicted from midinfrared spectra in the Montbéliarde cow population of the Franche-Comté region. A total of 194 candidate variants located in 24 genes and 17 genomic regions were imputed on 19,862 cows with phenotypes and genotyped with either the BovineSNP50 (Illumina Inc.) or the EuroG10K BeadChip. We then tested the effect of each SNP in a mixed linear model including random polygenic effects estimated with a genomic relationship matrix. We confirm here the effects of candidate causative variants located in 17 functional candidate genes on both cheesemaking properties and milk composition traits. In each candidate gene, we identified the most plausible causative variant: 4 are missense in the ALPL, SLC26A4, CSN3, and SCD genes, 7 are located in 5'UTR (AGPAT6), 3' untranslated region (GPT), or upstream (CSN1S1, CSN1S2, PAEP, DGAT1, and PICALM) regions, and 6 are located in introns of the SLC37A1, MGST1, CSN2, BRI3BP, FASN, and ANKH genes.

摘要

在之前的一项研究中,我们在蒙贝利亚德牛、诺曼底牛和荷斯坦牛的 24 个功能候选基因中鉴定出候选因果变异,这些基因与乳蛋白和脂肪酸组成有关。我们在 EuroG10K BeadChip(Illumina Inc.,圣地亚哥,CA)的定制部分设计了这些变体,该部分通常用于法国奶牛的基因组选择分析。为了验证这些候选变异对乳成分的影响,并估计它们对奶酪制作特性的影响,我们对乳蛋白、脂肪酸和矿物质组成以及 9 个奶酪制作特性(3 个实验室奶酪产量、5 个凝固特性和乳 pH 值)进行了全基因组关联研究。所有性状都是根据弗朗什-孔泰地区蒙贝利亚德牛群体的中红外光谱预测的。在 19862 头具有表型的奶牛中,共鉴定出 24 个基因和 17 个基因组区域的 194 个候选变异,并使用 BovineSNP50(Illumina Inc.)或 EuroG10K BeadChip 对其进行基因分型。然后,我们在一个混合线性模型中测试了每个 SNP 的效应,该模型包括使用基因组关系矩阵估计的随机多基因效应。我们在这里再次确认了位于 17 个功能候选基因中的候选因果变异对奶酪制作特性和乳成分性状的影响。在每个候选基因中,我们确定了最合理的因果变异:4 个是 ALPL、SLC26A4、CSN3 和 SCD 基因中的错义变异,7 个位于 5'UTR(AGPAT6)、3'非翻译区(GPT)或上游(CSN1S1、CSN1S2、PAEP、DGAT1 和 PICALM)区域,6 个位于 SLC37A1、MGST1、CSN2、BRI3BP、FASN 和 ANKH 基因的内含子中。

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