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Title: Non-allelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations
Authors: Robberecht, Caroline
Voet, Thierry
Zamani Esteki, Masoud
Nowakowska, Beata
Vermeesch, Joris # ×
Issue Date: Mar-2013
Publisher: Cold Spring Harbor Laboratory Press
Series Title: Genome research vol:23 issue:3 pages:411-418
Abstract: Large scale analysis of balanced chromosomal translocation breakpoints has shown nonhomologous end joining and microhomology-mediated repair to be the main drivers of interchromosomal structural aberrations. Breakpoint sequences of de novo unbalanced translocations have not yet been investigated systematically. We analyzed 12 de novo unbalanced translocations and mapped the breakpoints in 9. Surprisingly, in contrast to balanced translocations, we identify non-allelic homologous recombination (NAHR) between (retro)transposable elements and especially long interspersed elements (LINEs) as the main mutational mechanism. This finding shows yet another involvement of (retro)transposons in genomic rearrangements and exposes a profoundly different mutational mechanism compared to balanced chromosomal translocations. Furthermore, we show the existence of compound maternal/paternal derivative chromosomes, reinforcing the hypothesis that human cleavage stage embryogenesis is a cradle of chromosomal rearrangements.
ISSN: 1088-9051
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory for Cytogenetics and Genome Research
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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