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High levels of intra-strain structural variation in Drosophila simulans X pericentric heterochromatin.

Cécile CourretAmanda M Larracuente
Published in: Genetics (2023)
Large genome structural variations can impact genome regulation and integrity. Repeat-rich regions like pericentric heterochromatin are vulnerable to structural rearrangements although we know little about how often these rearrangements occur over evolutionary time. Repetitive genome regions are particularly difficult to study with genomic approaches, as they are missing from most genome assemblies. However cytogenetic approaches offer a direct way to detect large rearrangements involving pericentric heterochromatin. Here we use a cytogenetic approach to reveal large structural rearrangements associated with the X pericentromeric region of Drosophila simulans. These rearrangements involve large blocks of satellite DNA-the 500-bp and Rsp-like satellites-which colocalize in the X pericentromeric heterochromatin. We find that this region is polymorphic not only among different strains, but between isolates of the same strain from different labs, and even within individual isolates. On one hand, our observation raises questions regarding the potential impact of such variation at the phenotypic level and our ability to control for such genetic variability. On the other hand, this highlights the very rapid turnover of the pericentric heterochromatin most likely associated with genomic instability of the X pericentromere. It represents a unique opportunity to study the dynamics of pericentric heterochromatin, the evolution of associated satellites at a very short time scale, and to better understand how structural variation arises.
Keyphrases
  • genome wide
  • copy number
  • dna methylation
  • high frequency
  • gene expression
  • body composition
  • bone mineral density