Hedgehog in the human: a possible explanation for the VATER association

J Paediatr Child Health. 2002 Apr;38(2):117-21. doi: 10.1046/j.1440-1754.2002.00813.x.

Abstract

Foregut malformations are relatively common anomalies, occurring in 1 in 2000-5000 live births. The adriamycin-induced rat model of the VATER association has provided a means of studying the morphogenesis of a variety of major congenital structural abnormalities similar to those seen in humans with VATER association. The secreted glycoprotein, Sonic hedgehog (Shh), may act as an endodermal signal that controls gut and lung patterning. Mice with targeted deletion of Shh have foregut defects that are consistent with those produced by administration of adriamycin. It is possible that mutations induced by adriamycin may result from the breakdown of the Shh signalling pathway.

Publication types

  • Review

MeSH terms

  • Abnormalities, Drug-Induced
  • Ampulla of Vater / abnormalities*
  • Animals
  • Doxorubicin / adverse effects
  • Gene Expression Regulation, Developmental / genetics*
  • Hedgehog Proteins
  • Humans
  • New Zealand
  • Notochord / cytology
  • Notochord / physiology
  • Oncogene Proteins / genetics
  • Rats
  • Signal Transduction
  • Trans-Activators / genetics*
  • Trans-Activators / metabolism
  • Transcription Factors / genetics
  • Zinc Finger Protein GLI1

Substances

  • Hedgehog Proteins
  • Oncogene Proteins
  • SHH protein, human
  • Trans-Activators
  • Transcription Factors
  • Zinc Finger Protein GLI1
  • Doxorubicin