Overexpression of ptc1 inhibits induction of Shh target genes and prevents normal patterning in the neural tube

Dev Biol. 1999 Jul 15;211(2):323-34. doi: 10.1006/dbio.1999.9311.

Abstract

Patched (Ptc) is a human tumor suppressor protein and a candidate receptor for Hedgehog (Hh) proteins, which regulate growth and patterning in embryos. Ptc represses expression of Hh target genes such as Gli1 and ptc1 itself. Localized secretion of Hh appears to induce transcription of target genes in specific patterns by binding to Ptc and preventing it from functioning in recipient cells. People who are heterozygous for PTC1 exhibit a range of developmental defects, suggesting that some genes are inappropriately expressed when there is not enough Ptc protein. To test the idea that a balance between Hh and Ptc activities is essential for normal development, we overexpressed Ptc in the neural tube. We find that excess Ptc is sufficient to inhibit expression of Gli1 and ptc1, suggesting that Sonic hedgehog (Shh) cannot signal effectively. This leads to partial dorsalization of the neural tube and a wide spectrum of neural defects, ranging from embryonic lethality to hydrocephaly.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Embryonic Induction / genetics
  • Gene Expression Regulation, Developmental*
  • Gene Targeting
  • Hedgehog Proteins
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins / genetics*
  • Mice
  • Mice, Transgenic
  • Nervous System / embryology*
  • Nervous System Physiological Phenomena
  • Patched Receptors
  • Patched-1 Receptor
  • Proteins / genetics*
  • Receptors, Cell Surface
  • Trans-Activators*

Substances

  • Hedgehog Proteins
  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins
  • Patched Receptors
  • Patched-1 Receptor
  • Proteins
  • Ptch1 protein, mouse
  • Receptors, Cell Surface
  • SHH protein, human
  • Trans-Activators