The impact of chromosomal rearrangements on regulation of gene expression

Hum Mol Genet. 2014 Sep 15;23(R1):R76-82. doi: 10.1093/hmg/ddu278. Epub 2014 Jun 6.


The effects that coding region single-nucleotide polymorphisms or mutations have on gene expression have been well documented, predominantly owing to their association with disease. The effects of structural chromosomal rearrangements are also receiving increasing attention with the development of new techniques that allow accurate, high-resolution data, whether genomic interaction or transcriptome data, to be generated right down to the single-cell level. Over the past 18 months, these advances in experimental techniques have been used to further confirm and delineate the substantial effects that chromosome rearrangements can have on the regulation of gene expression and provide evidence of direct links between the two.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Chromosome Aberrations*
  • Gene Expression
  • Gene Expression Regulation*
  • Gene Rearrangement*
  • Humans
  • Mutation
  • Polymorphism, Single Nucleotide