Journal
NATURE GENETICS
Volume 45, Issue 11, Pages 1319-+Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.2768
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Funding
- NHGRI NIH HHS [U54 HG006542, 5U54HG006542, U54 HG003273] Funding Source: Medline
- NINDS NIH HHS [K08 NS062711, R01 NS058529, 5K08NS062711] Funding Source: Medline
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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.
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