@article {185,
	title = {Absence of heterozygosity due to template switching during replicative rearrangements.},
	journal = {Am J Hum Genet},
	volume = {96},
	year = {2015},
	month = {2015 Apr 02},
	pages = {555-64},
	abstract = {<p>We investigated complex genomic rearrangements (CGRs) consisting of triplication copy-number variants (CNVs) that were accompanied by extended regions of copy-number-neutral absence of heterozygosity (AOH) in subjects with multiple congenital abnormalities. Molecular analyses provided observational evidence that in humans, post-zygotically generated CGRs can lead to regional uniparental disomy (UPD) due to template switches between homologs versus sister chromatids by using microhomology to prime DNA replication-a prediction of the replicative repair model, MMBIR. Our findings suggest that replication-based mechanisms might underlie the formation of diverse types of genomic alterations (CGRs and AOH) implicated in constitutional disorders. </p>},
	keywords = {Base Sequence, DNA Copy Number Variations, DNA Repair, DNA Replication, Gene Rearrangement, Humans, In Situ Hybridization, Fluorescence, Loss of Heterozygosity, Models, Genetic, Molecular Sequence Data, Netherlands, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Sequence Analysis, DNA, Uniparental Disomy},
	issn = {1537-6605},
	doi = {10.1016/j.ajhg.2015.01.021},
	author = {Carvalho, Claudia M B and Pfundt, Rolph and King, Daniel A and Lindsay, Sarah J and Zuccherato, Luciana W and Macville, Merryn V E and Liu, Pengfei and Johnson, Diana and Stankiewicz, Pawel and Brown, Chester W and Shaw, Chad A and Hurles, Matthew E and Ira, Grzegorz and Hastings, P J and Brunner, Han G and Lupski, James R}
}
@article {288,
	title = {Replicative mechanisms for CNV formation are error prone.},
	journal = {Nat Genet},
	volume = {45},
	year = {2013},
	month = {2013 Nov},
	pages = {1319-26},
	abstract = {<p>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.</p>},
	keywords = {Base Sequence, DNA Breaks, DNA Copy Number Variations, DNA Repair, DNA Replication, Frameshift Mutation, Gene Rearrangement, Genetic Variation, Genotype, Humans, Sequence Analysis, DNA, Sequence Deletion},
	issn = {1546-1718},
	doi = {10.1038/ng.2768},
	author = {Carvalho, Claudia M B and Pehlivan, Davut and Ramocki, Melissa B and Fang, Ping and Alleva, Benjamin and Franco, Luis M and Belmont, John W and Hastings, P J and Lupski, James R}
}
