Department of Agricultural Biotechnology, Animal Biotechnology Major, and Research Institute for Agriculture and Life Sciences, Seoul National University, Seoul 151-921, Korea.
BMC Genomics. 2014 Mar 27;15:240. doi: 10.1186/1471-2164-15-240.
Copy number variation (CNV), a source of genetic diversity in mammals, has been shown to underlie biological functions related to production traits. Notwithstanding, there have been few studies conducted on CNVs using next generation sequencing at the population level.
Illumina NGS data was obtained for ten Holsteins, a dairy cattle, and 22 Hanwoo, a beef cattle. The sequence data for each of the 32 animals varied from 13.58-fold to almost 20-fold coverage. We detected a total of 6,811 deleted CNVs across the analyzed individuals (average length = 2732.2 bp) corresponding to 0.74% of the cattle genome (18.6 Mbp of variable sequence). By examining the overlap between CNV deletion regions and genes, we selected 30 genes with the highest deletion scores. These genes were found to be related to the nervous system, more specifically with nervous transmission, neuron motion, and neurogenesis. We regarded these genes as having been effected by the domestication process. Further analysis of the CNV genotyping information revealed 94 putative selected CNVs and 954 breed-specific CNVs.
This study provides useful information for assessing the impact of CNVs on cattle traits using NGS at the population level.
拷贝数变异(CNV)是哺乳动物遗传多样性的来源,已被证明与生产性状相关的生物学功能有关。尽管如此,在群体水平上使用下一代测序对 CNV 进行的研究很少。
我们为 10 头荷斯坦奶牛和 22 头韩牛(一种肉牛)获得了 Illumina NGS 数据。这 32 只动物的每个序列数据的覆盖范围从 13.58 倍到近 20 倍不等。我们总共在分析的个体中检测到 6811 个缺失的 CNV(平均长度为 2732.2 bp),占牛基因组的 0.74%(1860 万 bp 的可变序列)。通过检查 CNV 删除区域和基因之间的重叠,我们选择了 30 个具有最高删除分数的基因。这些基因与神经系统有关,更具体地说,与神经传递、神经元运动和神经发生有关。我们认为这些基因受到了驯化过程的影响。对 CNV 基因分型信息的进一步分析揭示了 94 个推定的选择 CNV 和 954 个品种特异性 CNV。
本研究为使用 NGS 在群体水平上评估 CNV 对牛性状的影响提供了有用的信息。