Hidden genetic variation shapes the structure of functional elements in Drosophila.
Hidden genetic variation shapes the structure of functional elements in Drosophila.
复制标题
DOI：
10.1038/s41588-017-0010-y
复制
发表时间：
2018-01
期刊：
影响因子：
30.8
通讯作者：
Emerson JJ
中科院分区：
文献类型：
--
作者：
Chakraborty M;VanKuren NW;Zhao R;Zhang X;Kalsow S;Emerson JJ
增加、减少、重排或以其他方式重塑基因组结构的突变经常影响表型，尽管大多数当代组合的碎片化性质使它们变得模糊。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参考质量的果蝇基因组。通过将这一新的基因组与现有的D. melanogaster组合进行比较，我们创建了一个前所未有的分辨率的结构变异图，并确定了迄今为止仍然隐藏的广泛的遗传变异。许多这些变异构成了潜在的表型变异，包括串联重复和转座元件插入，放大与尼古丁抗性相关的解毒相关基因的表达。大量仍未被发现的重要遗传变异凸显了高质量参考基因组对破译表型的重要性。一个黑腹果蝇菌株的参考质量基因组组装允许通过与现有果蝇基因组的比较分析来精确定位结构变异。先前隐藏的结构变异比snp改变了更大的基因组部分，并且经常影响潜在复杂性状的候选基因。
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. A reference-quality genome assembly of a Drosophila melanogaster strain allows for accurate mapping of structural variants through comparative analysis with the existing Drosophila genome. Previously hidden structural variation alters a larger fraction of the genome than SNPs and often affects candidate genes underlying complex traits.
登录
查看更多内容
影响因子：
3.3
作者：
Cridland JM;Thornton KR;Long AD
通讯作者：
Long AD
影响因子：
14.9
作者：
Chakraborty, Mahul;Baldwin-Brown, James G.;Emerson, J. J.
通讯作者：
Emerson, J. J.
影响因子：
3.3
作者：
Huddleston, John;Eichler, Evan E.
通讯作者：
Eichler, Evan E.
影响因子：
10.7
作者：
Cridland JM;Macdonald SJ;Long AD;Thornton KR
通讯作者：
Thornton KR
影响因子：
4.5
作者：
Gamazon ER;Nicolae DL;Cox NJ
通讯作者：
Cox NJ