Human Diseases from Gain-of-Function Mutations in Disordered Protein Regions

Cell. 2018 Sep 20;175(1):40-42. doi: 10.1016/j.cell.2018.08.059.

Abstract

Although there is much focus on the impact of mutations on structured protein domains, less is known about their impact on unstructured regions. In this issue, Meyer et al. demonstrate that mutations resulting in the emergence of new short linear peptide motifs within intrinsically disordered protein regions can cause human genetic diseases by gain of function.

Publication types

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

MeSH terms

  • Gain of Function Mutation*
  • Humans
  • Mutation
  • Peptides*

Substances

  • Peptides