Biomolecules 2012, 2(4), 483-504; doi:10.3390/biom2040483
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Break-Induced Replication and Genome Stability

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Received: 10 August 2012; in revised form: 5 October 2012 / Accepted: 8 October 2012 / Published: 16 October 2012
(This article belongs to the Special Issue DNA Damage Response)
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract: Genetic instabilities, including mutations and chromosomal rearrangements, lead to cancer and other diseases in humans and play an important role in evolution. A frequent cause of genetic instabilities is double-strand DNA breaks (DSBs), which may arise from a wide range of exogeneous and endogeneous cellular factors. Although the repair of DSBs is required, some repair pathways are dangerous because they may destabilize the genome. One such pathway, break-induced replication (BIR), is the mechanism for repairing DSBs that possesses only one repairable end. This situation commonly arises as a result of eroded telomeres or collapsed replication forks. Although BIR plays a positive role in repairing DSBs, it can alternatively be a dangerous source of several types of genetic instabilities, including loss of heterozygosity, telomere maintenance in the absence of telomerase, and non-reciprocal translocations. Also, mutation rates in BIR are about 1000 times higher as compared to normal DNA replication. In addition, micro-homology-mediated BIR (MMBIR), which is a mechanism related to BIR, can generate copy-number variations (CNVs) as well as various complex chromosomal rearrangements. Overall, activation of BIR may contribute to genomic destabilization resulting in substantial biological consequences including those affecting human health.
Keywords: double-strand break (DSB); DNA repair; break-induced replication (BIR); recombination
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MDPI and ACS Style

Sakofsky, C.J.; Ayyar, S.; Malkova, A. Break-Induced Replication and Genome Stability. Biomolecules 2012, 2, 483-504.

AMA Style

Sakofsky CJ, Ayyar S, Malkova A. Break-Induced Replication and Genome Stability. Biomolecules. 2012; 2(4):483-504.

Chicago/Turabian Style

Sakofsky, Cynthia J.; Ayyar, Sandeep; Malkova, Anna. 2012. "Break-Induced Replication and Genome Stability." Biomolecules 2, no. 4: 483-504.

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