Key message

Development of Mitsucal.

Abstract

Recent advances in DNA sequencing technology have facilitated whole-genome sequencing of mutants and variants. However, the analyses of large sequence datasets using a computer remain more difficult than operating a sequencer. Forward genetic approach is powerful even in sexual reproduction to identify key genes. Therefore, we developed the Mitsucal computer system for identifying causal genes of mutants, using whole-genome sequence data. Mitsucal includes a user-friendly web interface to configure analysis variables, such as background and crossed strains. Other than configuration, users are only required to upload short reads. All results are presented through a web interface where users can easily obtain a short list of candidate mutations. In the present study, we present three examples of Arabidopsis mutants defective in sexual reproduction in which Mitsucal is used to identify causal mutation. One mutant was screened from seeds of a transgenic line with a reporter gene to elucidate the mechanisms involved in the regulation of seed oil storage. The identified gene codes for a protein may be involved in mRNA splicing. Other two mutants had defects in the surface walls on pollen termed exine. Both causal genes were identified, and mutants were found to be allele of known mutants. These results show that Mitsucal could facilitate identification of causal genes.

中文翻译：

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开发Mitsucal计算机系统，以通过高通量测序仪鉴定因果突变。

关键信息

Mitsucal的发展。

抽象的

DNA测序技术的最新进展促进了突变体和变体的全基因组测序。但是，使用计算机分析大型序列数据集仍然比操作定序器更加困难。向前遗传方法即使在有性生殖中也可用来鉴定关键基因。因此，我们使用全基因组序列数据开发了Mitsucal计算机系统，用于识别突变体的致病基因。Mitsucal包括一个用户友好的Web界面，用于配置分析变量，例如背景和交叉应变。除了配置外，用户仅需要上传简短的阅读内容。所有结果均通过网络界面显示，用户可以在其中轻松获得候选突变的简短列表。在本研究中，我们提出了拟南芥的三个例子有性生殖缺陷的突变体，其中Mitsucal用于鉴定因果突变。从具有报告基因的转基因品系的种子中筛选出一个突变体，以阐明参与调节种子油贮藏的机制。鉴定出的蛋白质基因编码可能与mRNA剪接有关。另外两个突变体的花粉表面壁上有缺陷，称为外壁。确定了两个因果基因，发现突变体是已知突变体的等位基因。这些结果表明，Mitsucal可以促进因果基因的鉴定。