Folic acid prevents exencephaly in Cited2 deficient mice

Hum Mol Genet. 2002 Feb 1;11(3):283-93. doi: 10.1093/hmg/11.3.283.

Abstract

Cited2 (also Mrg1/p35srj) is a member of a new conserved gene family that is expressed during mouse development and in adult tissues. In order to investigate the function of Cited2 during mouse embryogenesis, we introduced a null mutation into the Cited2 locus. Cited2(-/-) mutants died at late gestation and exhibited heart defects and exencephaly, arising from defective closure of the midbrain (MB) and hindbrain. Initiation of neural tube closure at the forebrain-midbrain (FB-MB) boundary, an essential step for closure of the cranial neural tube, was impaired in the Cited2(-/-) mutants. Gene marker analysis using in situ hybridization revealed that the patterning of the anterior neural plate and head mesenchyme was little affected or normal in the Cited2(-/-) embryos. However, Cited2 was required for the survival of neuroepithelial cells and its absence led to massive apoptosis in dorsal neuroectoderm around the FB-MB boundary and in a restricted transverse domain in the hindbrain. Treatment with folic acid significantly reduced the exencephalic phenotype in the Cited2(-/-) embryos both in vivo and in vitro. However, assessment of folate metabolism revealed no defect in the Cited2(-/-) mutants, and the elevated apoptosis observed in the neuroepithelium of the Cited2(-/-) mutants was apparently not decreased by folic acid supplementation. To our knowledge, the Cited2 mouse represents the first genetic model in which folic acid can prevent a defect in neural tube closure by a mechanism other than the neutralization of a defect in folate homeostasis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Apoptosis / physiology
  • DNA-Binding Proteins*
  • Disease Models, Animal
  • Ectoderm / physiology
  • Fetal Death
  • Folic Acid / pharmacology*
  • Genetic Vectors
  • Genotype
  • Mesoderm / physiology
  • Mice
  • Mice, Inbred C57BL
  • Morphogenesis / genetics
  • Morphogenesis / physiology*
  • Mutation
  • Neural Tube Defects / genetics*
  • Neural Tube Defects / prevention & control
  • Repressor Proteins*
  • Trans-Activators / genetics
  • Trans-Activators / physiology*

Substances

  • Cited2 protein, mouse
  • DNA-Binding Proteins
  • Repressor Proteins
  • Trans-Activators
  • Folic Acid