Queensland Alliance for Agriculture and Food Innovation, The University of Queensland, St Lucia, Queensland 4067, Australia; email:
Agriculture Victoria Research, AgriBio, Bundoora, Victoria 3083, Australia.
Annu Rev Anim Biosci. 2019 Feb 15;7:89-102. doi: 10.1146/annurev-animal-020518-115024. Epub 2019 Dec 3.
The 1000 Bull Genomes Project is a collection of whole-genome sequences from 2,703 individuals capturing a significant proportion of the world's cattle diversity. So far, 84 million single-nucleotide polymorphisms (SNPs) and 2.5 million small insertion deletions have been identified in the collection, a very high level of genetic diversity. The project has greatly accelerated the identification of deleterious mutations for a range of genetic diseases, as well as for embryonic lethals. The rate of identification of causal mutations for complex traits has been slower, reflecting the typically small effect size of these mutations and the fact that many are likely in as-yet-unannotated regulatory regions. Both the deleterious mutations that have been identified and the mutations associated with complex trait variation have been included in low-cost SNP array designs, and these arrays are being genotyped in tens of thousands of dairy and beef cattle, enabling management of deleterious mutations in these populations as well as genomic selection.
1000 头公牛基因组计划是一个由 2703 个人的全基因组序列组成的集合,涵盖了世界上很大一部分牛的多样性。到目前为止,该集合中已经鉴定出了 8400 万个单核苷酸多态性(SNP)和 250 万个小插入缺失,这显示出了非常高的遗传多样性。该计划极大地加速了对一系列遗传疾病以及胚胎致死突变的有害突变的鉴定。对于复杂性状的因果突变的鉴定速度较慢,这反映了这些突变的典型效应量较小,而且许多突变可能位于尚未注释的调控区域。已鉴定出的有害突变以及与复杂性状变异相关的突变已被包含在低成本 SNP 芯片设计中,并且这些芯片正在对成千上万的奶牛和肉牛进行基因分型,从而能够在这些群体中管理有害突变以及基因组选择。