College of Animal Science and Technology, Northwest A&F University, Yangling 712100, China.
Yi Chuan. 2021 Nov 20;43(11):1023-1037. doi: 10.16288/j.yczz.21-214.
With the release of high-quality reference genomes assembled by long reads from the third-generation sequencing technology, as well as extensive re-sequencing and population genetic analysis, researchers found that a single reference genome does not represent the diversity within a species. The missing sequences on the reference genome result in an incomplete population genetic polymorphism map. The emergence of pan-genome can well repair the deficiency of single reference genome, which include core genome (responsible for basic biological functions and the main phenotypic characteristics within a species) and the variable genome (related to the genetic diversity or biological characteristics). According to the core and variable genome proportion, the types of pan-genomes can be either open or closed. Here, we review the current exploring of pan-genome for a range of species, to discuss the characteristics of pan-genome in various biological groups. The pan-genome of mammals are more likely closed, while the pan-genomes of microbes, angiosperms, and some invertebrates are likely non-closed. It is possible to complete the reference genome and obtain complete variation information through the pan-genomic study, which will contribute to the study of molecular mechanism for genetic diversity and phenotypic evolution.
随着第三代测序技术高质量长读长参考基因组的发布，以及广泛的重测序和群体遗传分析，研究人员发现，单个参考基因组不能代表物种内的多样性。参考基因组上缺失的序列导致了不完全的群体遗传多态性图谱。泛基因组的出现很好地弥补了单参考基因组的不足，它包括核心基因组（负责物种内的基本生物学功能和主要表型特征）和可变基因组（与遗传多样性或生物学特征有关）。根据核心和可变基因组的比例，泛基因组的类型可以是开放的，也可以是封闭的。在这里，我们综述了一系列物种的泛基因组研究，讨论了泛基因组在不同生物群中的特征。哺乳动物的泛基因组更可能是封闭的，而微生物、被子植物和一些无脊椎动物的泛基因组则更可能是非封闭的。通过泛基因组研究有可能完成参考基因组并获得完整的变异信息，这将有助于研究遗传多样性和表型进化的分子机制。
