A role for retrotransposons in chromothripsis

Research output: Chapter in Book/Report/Conference proceedingChapter

9 Scopus citations


Chromothripsis is a mutational event driven by tens to hundreds of double-stranded DNA breaks which occur in a single event between a limited number of chromosomes. Following chromosomal shattering, DNA fragments are stitched together in a seemingly random manner resulting in complex genomic rearrangements including sequence shuffling, deletions, and inversions of varying size. This genomic catastrophe has been observed in cancer genomes and the genomes of patients harboring developmental and congenital defects. The mechanisms catalyzing DNA breakage and coordinating the “random” assembly of genomic fragments are actively being investigated. Recently, retrotransposons—a type of “jumping gene”—have been implicated as one means to generate double-stranded DNA breaks during chromothripsis and as sequences which can contribute to the final configuration of the derived chromosomes. In this methods chapter, I discuss how to apply available bioinformatic tools and the hallmarks of retrotransposon mobilization to breakpoint junctions to assess the role for active and inactive retrotransposon sequences in chromothriptic events.

Original languageEnglish (US)
Title of host publicationMethods in Molecular Biology
PublisherHumana Press Inc.
Number of pages13
StatePublished - 2018

Publication series

NameMethods in Molecular Biology
ISSN (Print)1064-3745


  • Alu
  • Chromothripsis
  • Deletion
  • Inversion
  • L1
  • LINE-1
  • Nonallelic homologous recombination
  • Retrotransposon
  • SVA

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics


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