1] Biosciences Research Division, Department of Environment and Primary Industries, Bundoora, Victoria, Australia. [2] School of Applied Systems Biology, La Trobe University, Bundoora, Victoria, Australia. [3] Dairy Futures Cooperative Research Centre, Bundoora, Victoria, Australia.
1] Institut National de la Recherche Agronomique (INRA), UMR 1313 Génétique Animale et Biologie Intégrative, Jouy-en-Josas, France. [2] Union Nationale des Coopératives d'Elevage et d'Insémination Animale, Paris, France.
Nat Genet. 2014 Aug;46(8):858-65. doi: 10.1038/ng.3034. Epub 2014 Jul 13.
The 1000 bull genomes project supports the goal of accelerating the rates of genetic gain in domestic cattle while at the same time considering animal health and welfare by providing the annotated sequence variants and genotypes of key ancestor bulls. In the first phase of the 1000 bull genomes project, we sequenced the whole genomes of 234 cattle to an average of 8.3-fold coverage. This sequencing includes data for 129 individuals from the global Holstein-Friesian population, 43 individuals from the Fleckvieh breed and 15 individuals from the Jersey breed. We identified a total of 28.3 million variants, with an average of 1.44 heterozygous sites per kilobase for each individual. We demonstrate the use of this database in identifying a recessive mutation underlying embryonic death and a dominant mutation underlying lethal chrondrodysplasia. We also performed genome-wide association studies for milk production and curly coat, using imputed sequence variants, and identified variants associated with these traits in cattle.
“1000 头公牛基因组计划”旨在通过提供关键祖先公牛的注释序列变异体和基因型来支持加速家牛遗传增益的目标，同时考虑动物健康和福利。在“1000 头公牛基因组计划”的第一阶段，我们对 234 头牛的全基因组进行了测序，平均覆盖度达到 8.3 倍。这些测序数据包括来自全球荷斯坦-弗里生牛群的 129 个个体、弗莱维赫牛种的 43 个个体和泽西牛种的 15 个个体。我们总共鉴定了 2830 万个变异体，每个个体的平均每个千碱基有 1.44 个杂合位点。我们展示了如何使用该数据库来鉴定导致胚胎死亡的隐性突变和导致致死性软骨发育不良的显性突变。我们还使用已推断的序列变异体对产奶量和卷曲被毛进行了全基因组关联研究，并鉴定出了与这些牛的性状相关的变异体。
