Pathway perturbations in signaling networks: Linking genotype to phenotype

Semin Cell Dev Biol. 2020 Mar;99:3-11. doi: 10.1016/j.semcdb.2018.05.001. Epub 2018 May 10.


Genes and gene products interact with each other to form signal transduction networks in the cell. The interactome networks are under intricate regulation in physiological conditions, but could go awry upon genome instability caused by genetic mutations. In the past decade with next-generation sequencing technologies, an increasing number of genomic mutations have been identified in a variety of disease patients and healthy individuals. As functional and systematic studies on these mutations leap forward, they begin to reveal insights into cellular homeostasis and disease mechanisms. In this review, we discuss recent advances in the field of network biology and signaling pathway perturbations upon genomic changes, and highlight the success of various omics datasets in unraveling genotype-to-phenotype relationships.

Keywords: Genetic mutations; Interactome and regulome; Network perturbations; Protein interactions; Signaling pathways.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Gene Regulatory Networks
  • Genotype*
  • Humans
  • Phenotype*
  • Signal Transduction / genetics*