Group of Molecular Genetics and Systems Biology, Department of Genetics and Biotechnology, Faculty of Agricultural Sciences, Aarhus University, Blichers Allé 20, DK-8830 Tjele, Denmark.
BMC Genomics. 2010 May 6;11:284. doi: 10.1186/1471-2164-11-284.
Copy number variations (CNVs), which represent a significant source of genetic diversity in mammals, have been shown to be associated with phenotypes of clinical relevance and to be causative of disease. Notwithstanding, little is known about the extent to which CNV contributes to genetic variation in cattle.
We designed and used a set of NimbleGen CGH arrays that tile across the assayable portion of the cattle genome with approximately 6.3 million probes, at a median probe spacing of 301 bp. This study reports the highest resolution map of copy number variation in the cattle genome, with 304 CNV regions (CNVRs) being identified among the genomes of 20 bovine samples from 4 dairy and beef breeds. The CNVRs identified covered 0.68% (22 Mb) of the genome, and ranged in size from 1.7 to 2,031 kb (median size 16.7 kb). About 20% of the CNVs co-localized with segmental duplications, while 30% encompass genes, of which the majority is involved in environmental response. About 10% of the human orthologous of these genes are associated with human disease susceptibility and, hence, may have important phenotypic consequences.
Together, this analysis provides a useful resource for assessment of the impact of CNVs regarding variation in bovine health and production traits.
拷贝数变异（CNVs）是哺乳动物遗传多样性的重要来源，已被证明与具有临床相关性的表型相关，并可导致疾病。尽管如此，对于 CNV 在牛中的遗传变异程度知之甚少。
我们设计并使用了一组 NimbleGen CGH 阵列，这些阵列在大约 630 万个探针的牛基因组可检测部分进行平铺，平均探针间距为 301 bp。本研究报告了牛基因组中拷贝数变异的最高分辨率图谱，在来自 4 个奶牛和肉牛品种的 20 个牛基因组中鉴定出 304 个拷贝数变异区（CNVR）。鉴定出的 CNVR 覆盖了基因组的 0.68%（22 Mb），大小从 1.7 到 2031 kb（中位数大小为 16.7 kb）。大约 20%的 CNV 与片段重复共定位，而 30%包含基因，其中大多数与环境反应有关。这些基因的约 10%的人类同源物与人类疾病易感性相关，因此可能具有重要的表型后果。
总的来说，这项分析为评估 CNV 对牛健康和生产性状变异的影响提供了有用的资源。
