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短篇通讯:对德国荷斯坦奶牛全基因组关联研究中鉴定的与体细胞评分相关的基因座进行验证。

Short communication: validation of somatic cell score-associated loci identified in a genome-wide association study in German Holstein cattle.

机构信息

Breeding Biology and Molecular Genetics, Department for Crop and Animal Sciences, Humboldt-Universität zu Berlin, Invalidenstraße 42, 10115 Berlin, Germany.

Breeding Biology and Molecular Genetics, Department for Crop and Animal Sciences, Humboldt-Universität zu Berlin, Invalidenstraße 42, 10115 Berlin, Germany.

出版信息

J Dairy Sci. 2014;97(4):2481-6. doi: 10.3168/jds.2013-7149. Epub 2014 Jan 31.

DOI:10.3168/jds.2013-7149
PMID:24485673
Abstract

Recently, we identified 6 genomic loci affecting daughter yield deviations (DYD) for somatic cell score (SCS) in a genome-wide association study (GWAS) performed with German Holstein bulls. In the current study, we tested if these loci were associated with SCS in cows using their own performance data. The study was performed with 1,412 German Holstein cows, of which 483 were daughters of 71 bulls that had been used in the GWAS. We tested 10 single nucleotide polymorphisms (SNP) representing 6 genomic regions that were associated with DYD for SCS in bulls. All tested SNP were significant in cows. Seven of them, located on Bos taurus autosomes (BTA) 6, 13, and 19, had the same direction of effect as those previously reported in the bull population. The most significant associations were detected on BTA6 and BTA19, accounting for 1.8% of the total genetic variance. The major allele of the 2 SNP on BTA6 and the minor allele of the 2 SNP on BTA19 were favorable for lower SCS. The differences between the homozygous genotype classes were up to 15,000 cells/mL. The verification of SNP associated with SCS in this study provides further evidence for the functional role of the linked genomic regions for immune response and contributes to identification of causative mutations. In particular, SNP with minor frequency of the favorable allele possess high potential to reduce SCS in German Holstein cattle by selection.

摘要

最近,我们在一项全基因组关联研究(GWAS)中鉴定出了影响体细胞评分(SCS)母犊产量偏差(DYD)的 6 个基因组座,该研究使用的是德国荷斯坦公牛。在当前的研究中,我们使用其自身的性能数据测试了这些座是否与奶牛的 SCS 有关。该研究使用了 1412 头德国荷斯坦奶牛,其中 483 头是 71 头曾用于 GWAS 的公牛的女儿。我们测试了 10 个代表与公牛 SCS 的 DYD 相关的 6 个基因组区域的单核苷酸多态性(SNP)。在奶牛中,所有测试的 SNP 都是显著的。其中 7 个 SNP 位于牛的常染色体(BTA)6、13 和 19 上,与先前在公牛群体中报道的效应方向相同。在 BTA6 和 BTA19 上检测到的最显著关联占总遗传方差的 1.8%。BTA6 上的 2 个 SNP 的主要等位基因和 BTA19 上的 2 个 SNP 的次要等位基因有利于较低的 SCS。同型基因型之间的差异高达 15000 个细胞/ml。本研究中与 SCS 相关的 SNP 的验证为与免疫反应相关的连锁基因组区域的功能作用提供了进一步的证据,并有助于鉴定致病突变。特别是,有利等位基因的 SNP 频率较低,具有通过选择降低德国荷斯坦奶牛 SCS 的巨大潜力。

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