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Environ Mol Mutagen. 2015 Jun;56(5):419-36. doi: 10.1002/em.21943. Epub 2015 Apr 17.

Structural variation mutagenesis of the human genome: Impact on disease and evolution.

Author information

1
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza Room 604B, Houston, Texas.

Abstract

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.

KEYWORDS:

DNA replication; chromosome biology; copy number variant; recombination; structural variant

PMID:
25892534
PMCID:
PMC4609214
DOI:
10.1002/em.21943
[Indexed for MEDLINE]
Free PMC Article

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