Mitotic microhomology-mediated break-induced replication promotes chromoanasynthesis - PubMed
11 hours ago
- #chromoanasynthesis
- #genomic-rearrangement
- #MM-BIR
- Chromoanasynthesis is a complex chromosomal rearrangement (CCR) found in cancers and congenital disorders.
- A single-molecule long-read DNA sequencing approach was developed to study chromoanasynthesis at telomeres and sub-telomeric DNA breaks.
- Chromoanasynthesis is driven by microhomology-mediated break-induced replication (MM-BIR) during mitosis.
- The process involves collaboration between microhomology-mediated end-joining (MMEJ) and BIR, regulated by PIF1, POLD3, and PCNA.
- Mitotic MM-BIR is highly prone to template switching, leading to genomic amplification in a single event.
- This pathway explains the extreme mutagenic nature of chromoanasynthesis and its role in CCRs.