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泛基因组分析突出了栽培稻和野生稻基因组变异的程度。

Pan-genome analysis highlights the extent of genomic variation in cultivated and wild rice.

机构信息

National Center for Gene Research, CAS Center for Excellence in Molecular Plant Sciences, Institute of Plant Physiology and Ecology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China.

State Key Laboratory of Rice Biology, China National Rice Research Institute, Chinese Academy of Agricultural Sciences, Hangzhou, China.

出版信息

Nat Genet. 2018 Feb;50(2):278-284. doi: 10.1038/s41588-018-0041-z. Epub 2018 Jan 15.

Abstract

The rich genetic diversity in Oryza sativa and Oryza rufipogon serves as the main sources in rice breeding. Large-scale resequencing has been undertaken to discover allelic variants in rice, but much of the information for genetic variation is often lost by direct mapping of short sequence reads onto the O. sativa japonica Nipponbare reference genome. Here we constructed a pan-genome dataset of the O. sativa-O. rufipogon species complex through deep sequencing and de novo assembly of 66 divergent accessions. Intergenomic comparisons identified 23 million sequence variants in the rice genome. This catalog of sequence variations includes many known quantitative trait nucleotides and will be helpful in pinpointing new causal variants that underlie complex traits. In particular, we systemically investigated the whole set of coding genes using this pan-genome data, which revealed extensive presence and absence of variation among rice accessions. This pan-genome resource will further promote evolutionary and functional studies in rice.

摘要

水稻丰富的遗传多样性来源于栽培稻亚种稻(Oryza sativa)和普通野生稻(Oryza rufipogon),这为水稻的品种改良提供了主要的基因来源。为了在水稻中发现等位基因变异,已经进行了大规模的重测序,但是通过将短序列直接映射到粳稻日本晴参考基因组上,大量的遗传变异信息常常会丢失。在这里,我们通过对 66 个不同的水稻亚种进行深度测序和从头组装,构建了一个水稻(O. sativa-O. rufipogon)种间泛基因组数据集。基因组间的比较鉴定了水稻基因组中的 2300 万个序列变异。这个序列变异目录包括许多已知的数量性状核苷酸,这将有助于确定复杂性状的新的因果变异。特别是,我们使用这个泛基因组数据集系统地研究了整套编码基因,结果揭示了水稻品种中广泛存在的基因缺失和获得变异。这个泛基因组资源将进一步推动水稻的进化和功能研究。

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