Gene Regulatory Network Perturbation by Genetic and Epigenetic Variation

Trends Biochem Sci. 2018 Aug;43(8):576-592. doi: 10.1016/j.tibs.2018.05.002. Epub 2018 Jun 22.

Abstract

Gene regulatory networks underlie biological function and cellular physiology. Alternative splicing (AS) is a fundamental step in gene regulatory networks and plays a key role in development and disease. In addition to the identification of aberrant AS events, an increasing number of studies are focusing on molecular determinants of AS, including genetic and epigenetic regulators. We review here recent efforts to identify various deregulated AS events as well as their molecular determinants that alter biological functions, and discuss clinical features of AS and their druggable potential.

Keywords: alternative splicing; computational and experimental methods; gene regulatory networks; genetic and epigenetic; molecular regulators.

Publication types

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

MeSH terms

  • Alternative Splicing
  • Epigenesis, Genetic*
  • Gene Regulatory Networks*
  • Genetic Variation*
  • High-Throughput Nucleotide Sequencing / methods
  • Humans