Centre for Genetic Improvement of Livestock, Animal & Poultry Science, University of Guelph, Guelph, Ontario, N1G 2W1, Canada.
Mol Cells. 2013 Sep;36(3):203-11. doi: 10.1007/s10059-013-2347-0. Epub 2013 Aug 1.
Since the completion of the bovine sequencing projects, a substantial number of genetic variations such as single nucleotide polymorphisms have become available across the cattle genome. Recently, cataloguing such genetic variations has been accelerated using massively parallel sequencing technology. However, most of the recent studies have been concentrated on European Bos taurus cattle breeds, resulting in a severe lack of knowledge for valuable native cattle genetic resources worldwide. Here, we present the first whole-genome sequencing results for an endangered Korean native cattle breed, Chikso, using the Illumina HiSeq 2,000 sequencing platform. The genome of a Chikso bull was sequenced to approximately 25.3-fold coverage with 98.8% of the bovine reference genome sequence (UMD 3.1) covered. In total, 5,874,026 single nucleotide polymorphisms and 551,363 insertion/deletions were identified across all 29 autosomes and the X-chromosome, of which 45% and 75% were previously unknown, respectively. Most of the variations (92.7% of single nucleotide polymorphisms and 92.9% of insertion/deletions) were located in intergenic and intron regions. A total of 16,273 single nucleotide polymorphisms causing missense mutations were detected in 7,111 genes throughout the genome, which could potentially contribute to variation in economically important traits in Chikso. This study provides a valuable resource for further investigations of the genetic mechanisms underlying traits of interest in cattle, and for the development of improved genomics-based breeding tools.
自牛测序项目完成以来,大量的遗传变异,如单核苷酸多态性,已经在牛基因组中得到了广泛的应用。最近,使用大规模平行测序技术加速了对这些遗传变异的编目。然而,大多数最近的研究都集中在欧洲的牛品种上,导致全球有价值的本地牛遗传资源的知识严重缺乏。在这里,我们使用 Illumina HiSeq 2000 测序平台,展示了濒危的韩国本地牛品种赤肖的第一个全基因组测序结果。一头赤肖公牛的基因组被测序到大约 25.3 倍的覆盖率,98.8%的牛参考基因组序列(UMD 3.1)被覆盖。总共在所有 29 条常染色体和 X 染色体上发现了 5874026 个单核苷酸多态性和 551363 个插入/缺失,其中分别有 45%和 75%是以前未知的。大多数变异(92.7%的单核苷酸多态性和 92.9%的插入/缺失)位于基因间和内含子区域。在整个基因组的 7111 个基因中,共检测到 16273 个导致错义突变的单核苷酸多态性,这可能有助于赤肖在经济上重要的性状的变异。这项研究为进一步研究牛的遗传机制提供了有价值的资源,对基于基因组的改良育种工具的开发也有帮助。