水稻Kitaake的1504个突变体深度测序及数据库的建立

近日，Plant Cell在线发表题为“The Sequences of 1,504 Mutants in the Model Rice Variety Kitaake Facilitate Rapid Functional Genomic Studies”研究论文，对水稻品种Kitaake的1504个的突变系进行了深度测序并建立了突变体数据库。

快中子辐射诱变可以产生多样的突变类型，包括：碱基替换、片段的缺失或插入、染色体倒位或异位、随机复制等，与其他方法相比具有较明显优势。该论文研究人员以日本特早熟粳稻品种Kitaake作为受体材料，利用快中子辐射创建了一个突变体库，并对1504个突变株系进行45倍覆盖度的全基因组测序分析，共鉴定了91513个突变位点，这些位点影响了32307个基因（占全部基因的58%）。突变体信息整合到数据库KitBase中（http://kitbase.ucdavis.edu/），可以查询突变基因的序列及所存储的种子信息。该种突变体创建和鉴定方法对于植物功能基因组研究以及利用基因编辑技术进行品种改良具有重要的意义。

摘要：

The availability of a whole-genome sequenced mutant population and the cataloging of mutations of each line at a single-nucleotide resolution facilitate functional genomic analysis. To this end, we generated and sequenced a fast-neutron-induced mutant population in the model rice cultivar Kitaake (Oryza sativa L. ssp. japonica), which completes its life cycle in 9 weeks. We sequenced 1,504 mutant lines at 45-fold coverage and identified 91,513 mutations affecting 32,307 genes, i.e., 58% of all rice genes. We detected an average of 61 mutations per line. Mutation types include single base substitutions, deletions, insertions, inversions, translocations, and tandem duplications. We observed a high proportion of loss-of-function mutations. We identified an inversion affecting a single gene as the causative mutation for the short-grain phenotype in one mutant line. This result reveals the usefulness of the resource for efficient, cost-effective identification of genes conferring specific phenotypes. To facilitate public access to this genetic resource, we established an open access database called KitBase that provides access to sequence data and seed stocks. This population complements other available mutant collections and gene-editing technologies. This work demonstrates how inexpensive next-generation sequencing can be applied to generate a high-density catalog of mutations.

Guotian Li, Rashmi Jain, Mawsheng Chern, Nikki T Pham, Joel A Martin, Tong Wei, Wendy S Schackwitz, Anna M Lipzen, Phat Q Duong, Kyle C Jones, Liangrong Jiang, Deling Ruan, Diane Bauer, Yi Peng, Kerrie W Barry, Jeremy Schmutz, Pamela C Ronald,The Sequence of 1504 Mutants in the Model Rice Variety Kitaake Facilitates Rapid Functional Genomic Studies, Plant Cell June 2, 2017 tpc.00154.2017.