Trends in Genetics
Volume 30, Issue 3, March 2014, Pages 85-94
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Review
The role of microhomology in genomic structural variation

https://doi.org/10.1016/j.tig.2014.01.001Get rights and content
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Highlights

  • DNA microhomology contributes to the generation of genomic structural variation.

  • Microhomology-mediated events are important in evolution and disease development.

  • We describe the organisation of microhomologous sequences at chromosomal breakpoints.

  • We explore the proposed molecular basis and regulation of microhomology-mediated events.

Genomic structural variation, which can be defined as differences in the copy number, orientation, or location of relatively large DNA segments, is not only crucial in evolution, but also gives rise to genomic disorders. Whereas the major mechanisms that generate structural variation have been well characterised, insights into additional mechanisms are emerging from the identification of short regions of DNA sequence homology, also known as microhomology, at chromosomal breakpoints. In addition, functional studies are elucidating the characteristics of microhomology-mediated pathways, which are mutagenic. Here, we describe the features and mechanistic models of microhomology-mediated events, discuss their physiological and pathological significance, and highlight recent advances in this rapidly evolving field of research.

Keywords

microhomology
double-strand breaks
structural variation
genomic disorders
microhomology-mediated end joining
microhomology-mediated break-induced replication

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These authors contributed equally to this article.