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Replicative mechanisms for CNV formation are error prone.
- Source :
-
Nature genetics [Nat Genet] 2013 Nov; Vol. 45 (11), pp. 1319-26. Date of Electronic Publication: 2013 Sep 22. - Publication Year :
- 2013
-
Abstract
- We investigated 67 breakpoint junctions of gene copy number gains in 31 unrelated subjects. We observed a strikingly high frequency of small deletions and insertions (29%) apparently originating from polymerase slippage events, in addition to frameshifts and point mutations in homonucleotide runs (13%), at or flanking the breakpoint junctions of complex copy number variants. These single-nucleotide variants were generated concomitantly with the de novo complex genomic rearrangement (CGR) event. Our findings implicate low-fidelity, error-prone DNA polymerase activity in synthesis associated with DNA repair mechanisms as the cause of local increase in point mutation burden associated with human CGR.
Details
- Language :
- English
- ISSN :
- 1546-1718
- Volume :
- 45
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- Nature genetics
- Publication Type :
- Academic Journal
- Accession number :
- 24056715
- Full Text :
- https://doi.org/10.1038/ng.2768