Genomic Structural Variations Within Five Continental Populations of Drosophila melanogaster

G3 (Bethesda). 2018 Oct 3;8(10):3247-3253. doi: 10.1534/g3.118.200631.


Chromosomal structural variations (SV) including insertions, deletions, inversions, and translocations occur within the genome and can have a significant effect on organismal phenotype. Some of these effects are caused by structural variations containing genes. Large structural variations represent a significant amount of the genetic diversity within a population. We used a global sampling of Drosophila melanogaster (Ithaca, Zimbabwe, Beijing, Tasmania, and Netherlands) to represent diverse populations within the species. We used long-read sequencing and optical mapping technologies to identify SVs in these genomes. Among the five lines examined, we found an average of 2,928 structural variants within these genomes. These structural variations varied greatly in size and location, included many exonic regions, and could impact adaptation and genomic evolution.

Keywords: Long-read sequencing; Optical mapping; Structural Variation (SV).

MeSH terms

  • Animals
  • Chromosome Mapping
  • Computational Biology / methods
  • Drosophila melanogaster / genetics*
  • Evolution, Molecular
  • Genetics, Population*
  • Genome, Insect*
  • Genomic Structural Variation*
  • Genomics / methods
  • High-Throughput Nucleotide Sequencing
  • Molecular Sequence Annotation
  • Sequence Analysis, DNA

Associated data

  • figshare/10.25387/g3.6203300