1. Population-scale long-read sequencing uncovers transposable elements associated with gene expression variation and adaptive signatures in Drosophila
- Author
-
Gabriel E. Rech, Santiago Radío, Sara Guirao-Rico, Laura Aguilera, Vivien Horvath, Llewellyn Green, Hannah Lindstadt, Véronique Jamilloux, Hadi Quesneville, Josefa González, Jamilloux, Veronique, European Research Council, Ministerio de Ciencia e Innovación (España), Agencia Estatal de Investigación (España), and Generalitat de Catalunya
- Subjects
Multidisciplinary ,[SDV.BIBS] Life Sciences [q-bio]/Quantitative Methods [q-bio.QM] ,Gene Expression ,General Physics and Astronomy ,Sequence Analysis, DNA ,General Chemistry ,Expressió gènica ,General Biochemistry, Genetics and Molecular Biology ,Evolution, Molecular ,Drosophila melanogaster ,Drosòfila ,DNA Transposable Elements ,[SDV.BID.EVO] Life Sciences [q-bio]/Biodiversity/Populations and Evolution [q-bio.PE] ,Animals ,[SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN] ,Drosophila ,Gene expression - Abstract
High quality reference genomes are crucial to understanding genome function, structure and evolution. The availability of reference genomes has allowed us to start inferring the role of genetic variation in biology, disease, and biodiversity conservation. However, analyses across organisms demonstrate that a single reference genome is not enough to capture the global genetic diversity present in populations. In this work, we generate 32 high-quality reference genomes for the well-known model species D. melanogaster and focus on the identification and analysis of transposable element variation as they are the most common type of structural variant. We show that integrating the genetic variation across natural populations from five climatic regions increases the number of detected insertions by 58%. Moreover, 26% to 57% of the insertions identified using long-reads were missed by short-reads methods. We also identify hundreds of transposable elements associated with gene expression variation and new TE variants likely to contribute to adaptive evolution in this species. Our results highlight the importance of incorporating the genetic variation present in natural populations to genomic studies, which is essential if we are to understand how genomes function and evolve., This project has received funding from the European Research Council (ERC) under the European Union’s Horizon 2020 research and innovation programme (H2020-ERC-2014-CoG-647900). S.R. was funded by the MICINN/FSE/AEI (PRE2018-084755) and VH was funded by the Generalitat de Catalunya (FI2017_B00468). DrosEU is funded by an ESEB Special Topic Network award.
- Published
- 2022