July 7, 2019  |  

Hidden genetic variation shapes the structure of functional elements in Drosophila.

Authors: Chakraborty, Mahul and VanKuren, Nicholas W and Zhao, Roy and Zhang, Xinwen and Kalsow, Shannon and Emerson, J J

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.

Journal: Nature genetics
DOI: 10.1038/s41588-017-0010-y
Year: 2017

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