Department of Ecology and Evolutionary Biology, University of California, Irvine, CA, USA.
Department of Ecology and Evolution, University of Chicago, Chicago, IL, USA.
Nat Genet. 2018 Jan;50(1):20-25. doi: 10.1038/s41588-017-0010-y. Epub 2017 Dec 18.
Mutations that add, subtract, rearrange, or otherwise refashion genome structure often affect phenotypes, although the fragmented nature of most contemporary assemblies obscures them. To discover such mutations, we assembled the first new reference-quality genome of Drosophila melanogaster since its initial sequencing. By comparing this new genome to the existing D. melanogaster assembly, we created a structural variant map of unprecedented resolution and identified extensive genetic variation that has remained hidden until now. Many of these variants constitute candidates underlying phenotypic variation, including tandem duplications and a transposable element insertion that amplifies the expression of detoxification-related genes associated with nicotine resistance. The abundance of important genetic variation that still evades discovery highlights how crucial high-quality reference genomes are to deciphering phenotypes.
添加、删除、重排或其他方式重塑基因组结构的突变通常会影响表型，尽管大多数当代组装的碎片化性质掩盖了这些突变。为了发现这些突变，我们组装了自最初测序以来第一个新的黑腹果蝇参考质量基因组。通过将这个新的基因组与现有的黑腹果蝇基因组组装进行比较，我们创建了一个前所未有的分辨率的结构变异图谱，并鉴定了大量迄今为止一直隐藏的遗传变异。这些变异中有许多是潜在表型变异的候选者，包括串联重复和一个转座元件插入，该插入扩增了与尼古丁抗性相关的解毒相关基因的表达。仍然难以发现的重要遗传变异的丰富程度突出表明，高质量参考基因组对于破解表型是多么关键。
