The Hectd1 ubiquitin ligase is required for development of the head mesenchyme and neural tube closure

Dev Biol. 2007 Jun 1;306(1):208-21. doi: 10.1016/j.ydbio.2007.03.018. Epub 2007 Mar 20.

Abstract

Closure of the cranial neural tube depends on normal development of the head mesenchyme. Homozygous-mutant embryos for the ENU-induced open mind (opm) mutation exhibit exencephaly associated with defects in head mesenchyme development and dorsal-lateral hinge point formation. The head mesenchyme in opm mutant embryos is denser than in wildtype embryos and displays an abnormal cellular organization. Since cells that originate from both the cephalic paraxial mesoderm and the neural crest populate the head mesenchyme, we explored the origin of the abnormal head mesenchyme. opm mutant embryos show apparently normal development of neural crest-derived structures. Furthermore, the abnormal head mesenchyme in opm mutant embryos is not derived from the neural crest, but instead expresses molecular markers of cephalic mesoderm. We also report the identification of the opm mutation in the ubiquitously expressed Hectd1 E3 ubiquitin ligase. Two different Hectd1 alleles cause incompletely penetrant neural tube defects in heterozygous animals, indicating that Hectd1 function is required at a critical threshold for neural tube closure. This low penetrance of neural tube defects in embryos heterozygous for Hectd1 mutations suggests that Hectd1 should be considered as candidate susceptibility gene in human neural tube defects.

Publication types

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

MeSH terms

  • Alleles
  • Animals
  • Biomarkers / analysis
  • Biomarkers / metabolism
  • Central Nervous System / embryology*
  • Central Nervous System / enzymology
  • Embryo, Mammalian / enzymology
  • Embryonic Development / genetics*
  • Gene Expression
  • Mesoderm / enzymology*
  • Mice
  • Mice, Mutant Strains
  • Mutation
  • Neural Tube Defects / enzymology
  • Neural Tube Defects / genetics*
  • Protein Structure, Tertiary
  • Skull / abnormalities
  • Skull / embryology*
  • Ubiquitin-Protein Ligases / analysis
  • Ubiquitin-Protein Ligases / genetics
  • Ubiquitin-Protein Ligases / physiology*

Substances

  • Biomarkers
  • Hectd1 protein, mouse
  • Ubiquitin-Protein Ligases