Gain-of-function Shh mutants activate Smo cell-autonomously independent of Ptch1/2 function

Mech Dev. 2018 Oct:153:30-41. doi: 10.1016/j.mod.2018.08.009. Epub 2018 Aug 23.

Abstract

Sonic Hedgehog (Shh) signaling is characterized by non-cell autonomy; cells expressing Shh do not respond to the ligand. Here, we identify several Shh mutations that can activate the Hedgehog (Hh) pathway cell-autonomously. Cell-autonomous pathway activation requires the extracellular cysteine rich domain of Smoothened, but is otherwise independent of the Shh receptors Patched1 and -2. Many of the Shh mutants that gain activity fail to undergo auto processing resulting in the perdurance of the Shh pro-peptide, a form of Shh that is sufficient to activate the Hh response cell-autonomously. Our results demonstrate that Shh is capable of activating the Hh pathway via Smoothened, independently of Patched1/2, and that it harbors an intrinsic mechanism that prevents cell-autonomous activation of the Shh response.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Chickens
  • Gain of Function Mutation / genetics*
  • Hedgehog Proteins / genetics*
  • Holoprosencephaly / genetics
  • Holoprosencephaly / pathology
  • Luciferases / metabolism
  • Mice
  • Models, Biological
  • Neural Tube / embryology
  • Neural Tube / metabolism
  • Patched-1 Receptor / metabolism*
  • Patched-2 Receptor / metabolism*
  • Protein Domains
  • Smoothened Receptor / chemistry
  • Smoothened Receptor / metabolism*
  • Zinc Finger Protein GLI1 / metabolism

Substances

  • Hedgehog Proteins
  • Patched-1 Receptor
  • Patched-2 Receptor
  • Ptch1 protein, mouse
  • Ptch2 protein, mouse
  • Shh protein, mouse
  • Smo protein, mouse
  • Smoothened Receptor
  • Zinc Finger Protein GLI1
  • Luciferases