Structural variation and its effect on expression

Methods Mol Biol. 2012:838:173-86. doi: 10.1007/978-1-61779-507-7_8.


Structural variation, whether it is caused by copy number variants or present in a balanced form, such as reciprocal translocations and inversions, can have a profound and dramatic effect on the expression of genes mapping within and close to the rearrangement, as well as affecting others genome wide. These effects can be caused by altering the copy number of one or more genes or regulatory elements (dosage effect) or from physical disruption of links between regulatory elements and their associated gene or genes, resulting in perturbation of expression. Similarly, large-scale structural variants can result in genome-wide expression changes by altering the positions that chromosomes occupy within the nucleus, potentially disrupting not only local cis interactions, but also trans interactions that occur throughout the genome. Structural variation is, therefore, a significant factor in the study of gene expression and is discussed here in more detail.

MeSH terms

  • Chromosome Mapping
  • DNA Copy Number Variations
  • Gene Deletion
  • Gene Dosage
  • Gene Duplication
  • Gene Expression*
  • Gene Rearrangement
  • Genetic Variation*
  • Genome, Human*
  • Humans
  • Phenotype
  • Quantitative Trait Loci
  • Regulatory Sequences, Nucleic Acid
  • Translocation, Genetic