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Mechanisms underlying structural variant formation in genomic disorders
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Mechanisms underlying structural variant formation in genomic disorders
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Journal Article
Mechanisms underlying structural variant formation in genomic disorders
2016
Overview
Key Points
Genomic disorders can be caused by diverse types of structural variants that are generated by different molecular mechanisms.
Genomic architectural features can stimulate the formation of 'simple' or 'complex' structural variants.
Nonrecurrent rearrangements are frequently associated with complex structural variants.
Repeated and repetitive genomic segments may be used in DNA repair, which can increase genomic instability through replication-based mechanisms (RBMs).
Iterative template switching during DNA synthesis can generate complex genomic rearrangements (CGRs). CGRs can be mistaken for simple rearrangements owing to technical challenges and the limited resolution capabilities of structural variant detection methods.
Recent studies have revealed a ubiquitous role for genome architecture in the formation of structural variants at a given locus, both in DNA recombination-based and in DNA replication-based processes. These reports showcase the influence of repeat sequences on genomic stability and structural variant complexity and the tremendous plasticity and dynamic nature of our genome.
With the recent burst of technological developments in genomics, and the clinical implementation of genome-wide assays, our understanding of the molecular basis of genomic disorders, specifically the contribution of structural variation to disease burden, is evolving quickly. Ongoing studies have revealed a ubiquitous role for genome architecture in the formation of structural variants at a given locus, both in DNA recombination-based processes and in replication-based processes. These reports showcase the influence of repeat sequences on genomic stability and structural variant complexity and also highlight the tremendous plasticity and dynamic nature of our genome in evolution, health and disease susceptibility.
Publisher
Nature Publishing Group UK,Nature Publishing Group
