Journal
ENVIRONMENTAL AND MOLECULAR MUTAGENESIS
Volume 56, Issue 5, Pages 419-436Publisher
WILEY
DOI: 10.1002/em.21943
Keywords
structural variant; copy number variant; recombination; DNA replication; chromosome biology
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Funding
- NINDS [R01NS058529]
- NHGRI [U54HG006542]
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Watson-Crick base-pair changes, or single-nucleotide variants (SNV), have long been known as a source of mutations. However, the extent to which DNA structural variation, including duplication and deletion copy number variants (CNV) and copy number neutral inversions and translocations, contribute to human genome variation and disease has been appreciated only recently. Moreover, the potential complexity of structural variants (SV) was not envisioned; thus, the frequency of complex genomic rearrangements and how such events form remained a mystery. The concept of genomic disorders, diseases due to genomic rearrangements and not sequence-based changes for which genomic architecture incite genomic instability, delineated a new category of conditions distinct from chromosomal syndromes and single-gene Mendelian diseases. Nevertheless, it is the mechanistic understanding of CNV/SV formation that has promoted further understanding of human biology and disease and provided insights into human genome and gene evolution. Environ. Mol. Mutagen. 56:419-436, 2015. (c) 2015 Wiley Periodicals, Inc.
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