Non-allelic homologous recombination between retrotransposable elements is a major driver of de novo unbalanced translocations.

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 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 implicates (retro)transposons to be a major driver of genomic rearrangements and exposes a profoundly different mutational mechanism compared to balanced chromosomal transl

ORGANISM(S): Homo sapiens

SUBMITTER: Caroline Robberecht 

PROVIDER: E-GEOD-39303 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress