Replicative mechanisms for CNV formation are error prone View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2013-11

AUTHORS

Claudia M B Carvalho, Davut Pehlivan, Melissa B Ramocki, Ping Fang, Benjamin Alleva, Luis M Franco, John W Belmont, P J Hastings, James R Lupski

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. More... »

PAGES

1319-1326

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng.2768

DOI

http://dx.doi.org/10.1038/ng.2768

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1006233396

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/24056715


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