Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm.

ABSTRACT: Constitutional complex chromosomal rearrangements (CCRs) are rare cytogenetic aberrations arising in the germline via an unknown mechanism. Here we analyzed the breakpoint junctions of microscopically three-way or more complex translocations using comprehensive genomic and epigenomic analyses. All of these translocation junctions showed submicroscopic genomic complexity reminiscent of chromothripsis. The breakpoints were clustered within small genomic domains with junctions showing microhomology or microinsertions. Notably, all of the de novo cases were of paternal origin. The breakpoint distributions corresponded specifically to the ATAC-seq (assay for transposase-accessible chromatin with sequencing) read data peak of mature sperm and not to other chromatin markers or tissues. We propose

SUBMITTER: Sugimoto T 

PROVIDER: S-EPMC10511381 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature