title: The role of microhomology in genomic structural variation.
abstract: 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.
authors: Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, E1 2AT, UK.
authors: Diego
authors: D
authors: Ottaviani
authors: Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, E1 2AT, UK.
authors: Magdalena
authors: M
authors: LeCain
authors: Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, E1 2AT, UK. Electronic address: d.sheer@qmul.ac.uk.
authors: Denise
authors: D
authors: Sheer
mesh_terms: D000818:Animals; D001483:Base Sequence; D059766:DNA End-Joining Repair / Q000235:genetics; D015321:Gene Rearrangement / Q000235:genetics; D056914:Genomic Structural Variation; D005854:Germ Cells / Q000378:metabolism; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D012689:Sequence Homology, Nucleic Acid
keywords: double-strand breaks; genomic disorders; microhomology; microhomology-mediated break-induced replication; microhomology-mediated end joining; structural variation