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Toward Universal Forward Genetics: Using a Draft Genome Sequence of the Nematode Oscheius tipulae To Identify Mutations Affecting Vulva Development

机译:迈向通用正向遗传学:使用线虫Oscheius tipulae的草稿基因组序列来识别影响外阴发育的突变。

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摘要

Mapping-by-sequencing has become a standard method to map and identify phenotype-causing mutations in model species. Here, we show that a fragmented draft assembly is sufficient to perform mapping-by-sequencing in nonmodel species. We generated a draft assembly and annotation of the genome of the free-living nematode Oscheius tipulae, a distant relative of the model Caenorhabditis elegans. We used this draft to identify the likely causative mutations at the O. tipulae cov-3 locus, which affect vulval development. The cov-3 locus encodes the O. tipulae ortholog of C. elegans , and we further show that mutants also have an unsuspected vulval-development phenotype. In a virtuous circle, we were able to use the linkage information collected during mutant mapping to improve the genome assembly. These results showcase the promise of genome-enabled forward genetics in nonmodel species.
机译:通过测序作图已成为在模型物种中作图和鉴定引起表型突变的标准方法。在这里,我们显示了零散的草稿集足以在非模型物种中执行按序列映射。我们生成了一个自由活动的线虫Oscheius tipulae(一种秀丽隐杆线虫的远亲)的基因组的装配图和注释。我们使用该草案确定了在尖叶o。cov-3基因座上可能影响外阴发育的致病突变。 cov-3位点编码秀丽隐杆线虫的O. tipulae直系同源物,并且我们进一步表明,突变体也具有未怀疑的外阴发育表型。在一个良性循环中,我们能够使用在突变作图过程中收集的连锁信息来改善基因组装配。这些结果证明了非模型物种中具有基因组功能的正向遗传学的前景。

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