Germline unbalanced translocations arise from diverse mutational mechanisms including chromothripsis

ABSTRACT: Unbalanced translocations are a relatively common type of copy number variation and are a major contributor to neurodevelopmental disorders. We analyzed the breakpoints of 57 unique unbalanced translocations to investigate the mechanisms of how they form. 51 are simple unbalanced translocations between two different chromosome ends, and six rearrangements have more than three breakpoints involving two to five chromosomes. Sequencing 37 breakpoint junctions revealed that simple translocations have between zero and four basepairs (bp) of microhomology (n=26), short inserted sequences (n=8), or paralogous repeats (n=3) at the junctions, indicating that translocations do not arise primarily from non-allelic homologous recombination, but instead form most often via non-homologous end joining or

ORGANISM(S): Homo sapiens

SUBMITTER: M. Katharine Rudd 

PROVIDER: E-GEOD-68019 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress