Robust Yet Fragile: Expression Noise, Protein Misfolding, and Gene Dosage in the Evolution of Genomes

Annu Rev Genet. 2016 Nov 23:50:113-131. doi: 10.1146/annurev-genet-120215-035400. Epub 2016 Sep 12.

Abstract

The complex manner in which organisms respond to changes in their gene dosage has long fascinated geneticists. Oddly, although the existence of dominance implies that dosage reductions often have mild phenotypes, extra copies of whole chromosomes (aneuploidy) are generally strongly deleterious. Even more paradoxically, an extra copy of the genome is better tolerated than is aneuploidy. We review the resolution of this paradox, highlighting the roles of biochemistry, protein aggregation, and disruption of cellular microstructure in that explanation. Returning to life's curious combination of robustness and sensitivity to dosage changes, we argue that understanding how biological robustness evolved makes these observations less inexplicable. We propose that noise in gene expression and evolutionary strategies for its suppression play a role in generating dosage phenotypes. Finally, we outline an unappreciated mechanism for the preservation of duplicate genes, namely preservation to limit expression noise, arguing that it is particularly relevant in polyploid organisms.

Keywords: aneuploidy; dosage balance; gene duplication; gene expression noise; polyploidy; robustness.

Publication types

  • Review

MeSH terms

  • Aneuploidy
  • Animals
  • Biological Evolution*
  • Gene Dosage*
  • Gene Duplication
  • Gene Expression*
  • Genome*
  • Phenotype
  • Protein Folding*